Full text data of NBAS
NBAS
(NAG)
[Confidence: medium (present in either hRBCD or BSc_CH or PM22954596)]
Neuroblastoma-amplified sequence (Neuroblastoma-amplified gene protein)
Note: presumably soluble (membrane word is not in UniProt keywords or features)
Neuroblastoma-amplified sequence (Neuroblastoma-amplified gene protein)
Note: presumably soluble (membrane word is not in UniProt keywords or features)
UniProt
A2RRP1
ID NBAS_HUMAN Reviewed; 2371 AA.
AC A2RRP1; O95790; Q2VPJ7; Q53TK6; Q86V39; Q8NFY8; Q9Y3W5;
DT 26-JUN-2007, integrated into UniProtKB/Swiss-Prot.
read moreDT 03-MAR-2009, sequence version 2.
DT 22-JAN-2014, entry version 62.
DE RecName: Full=Neuroblastoma-amplified sequence;
DE AltName: Full=Neuroblastoma-amplified gene protein;
GN Name=NBAS; Synonyms=NAG;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC Catarrhini; Hominidae; Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT ARG-655, AND TISSUE
RP SPECIFICITY.
RC TISSUE=Neuroblastoma;
RX PubMed=12706883; DOI=10.1016/S0378-1119(03)00459-1;
RA Scott D.K., Board J.R., Lu X., Pearson A.D.J., Kenyon R.M., Lunec J.;
RT "The neuroblastoma amplified gene, NAG: genomic structure and
RT characterisation of the 7.3 kb transcript predominantly expressed in
RT neuroblastoma.";
RL Gene 307:1-11(2003).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], AND VARIANTS VAL-243
RP AND ARG-655.
RX PubMed=15815621; DOI=10.1038/nature03466;
RA Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H.,
RA Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M.,
RA Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E.,
RA Kremitzki C., Oddy L., Du H., Sun H., Bradshaw-Cordum H., Ali J.,
RA Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C.,
RA Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J.,
RA Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A.,
RA Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K.,
RA Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M.,
RA Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K.,
RA McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C.,
RA Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N.,
RA Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M.,
RA Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E.,
RA Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P.,
RA Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A.,
RA Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A.,
RA Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T.,
RA Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D.,
RA Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X.,
RA McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C.,
RA Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S.,
RA Miller W., Eichler E.E., Bork P., Suyama M., Torrents D.,
RA Waterston R.H., Wilson R.K.;
RT "Generation and annotation of the DNA sequences of human chromosomes 2
RT and 4.";
RL Nature 434:724-731(2005).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), NUCLEOTIDE
RP SEQUENCE [LARGE SCALE MRNA] OF 834-2371 (ISOFORM 2), AND VARIANT
RP THR-2074.
RC TISSUE=Eye, and PNS;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA
RT project: the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [4]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 993-2371 (ISOFORMS 1/2), AND TISSUE
RP SPECIFICITY.
RX PubMed=9926938; DOI=10.1038/sj.onc.1202287;
RA Wimmer K., Zhu X.X., Lamb B.J., Kuick R., Ambros P.F., Kovar H.,
RA Thoraval D., Motyka S., Alberts J.R., Hanash S.M.;
RT "Co-amplification of a novel gene, NAG, with the N-myc gene in
RT neuroblastoma.";
RL Oncogene 18:233-238(1999).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1068-2371 (ISOFORMS 1/2).
RC TISSUE=Uterus;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H.,
RA Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K.,
RA Ottenwaelder B., Poustka A., Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [6]
RP TISSUE SPECIFICITY.
RX PubMed=10882752; DOI=10.1136/jmg.37.7.501;
RA Fruehwald M.C., O'Dorisio M.S., Rush L.J., Reiter J.L.,
RA Smiraglia D.J., Wenger G., Costello J.F., White P.S., Krahe R.,
RA Brodeur G.M., Plass C.;
RT "Gene amplification in PNETs/medulloblastomas: mapping of a novel
RT amplified gene within the MYCN amplicon.";
RL J. Med. Genet. 37:501-509(2000).
RN [7]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-473 AND SER-475, AND
RP MASS SPECTROMETRY.
RC TISSUE=Cervix carcinoma;
RX PubMed=18669648; DOI=10.1073/pnas.0805139105;
RA Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E.,
RA Elledge S.J., Gygi S.P.;
RT "A quantitative atlas of mitotic phosphorylation.";
RL Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008).
RN [8]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Liver;
RX PubMed=18318008; DOI=10.1002/pmic.200700884;
RA Han G., Ye M., Zhou H., Jiang X., Feng S., Jiang X., Tian R., Wan D.,
RA Zou H., Gu J.;
RT "Large-scale phosphoproteome analysis of human liver tissue by
RT enrichment and fractionation of phosphopeptides with strong anion
RT exchange chromatography.";
RL Proteomics 8:1346-1361(2008).
RN [9]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=19413330; DOI=10.1021/ac9004309;
RA Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J.,
RA Mohammed S.;
RT "Lys-N and trypsin cover complementary parts of the phosphoproteome in
RT a refined SCX-based approach.";
RL Anal. Chem. 81:4493-4501(2009).
RN [10]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-473 AND SER-475, AND
RP MASS SPECTROMETRY.
RC TISSUE=Leukemic T-cell;
RX PubMed=19690332; DOI=10.1126/scisignal.2000007;
RA Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K.,
RA Rodionov V., Han D.K.;
RT "Quantitative phosphoproteomic analysis of T cell receptor signaling
RT reveals system-wide modulation of protein-protein interactions.";
RL Sci. Signal. 2:RA46-RA46(2009).
RN [11]
RP ACETYLATION [LARGE SCALE ANALYSIS] AT LYS-1057, AND MASS SPECTROMETRY.
RX PubMed=19608861; DOI=10.1126/science.1175371;
RA Choudhary C., Kumar C., Gnad F., Nielsen M.L., Rehman M.,
RA Walther T.C., Olsen J.V., Mann M.;
RT "Lysine acetylation targets protein complexes and co-regulates major
RT cellular functions.";
RL Science 325:834-840(2009).
RN [12]
RP SUBCELLULAR LOCATION, TISSUE SPECIFICITY, VARIANT SOPH HIS-1914, AND
RP VARIANTS GLU-44; LEU-949 AND SER-1009.
RX PubMed=20577004; DOI=10.1136/jmg.2009.074815;
RA Maksimova N., Hara K., Nikolaeva I., Chun-Feng T., Usui T., Takagi M.,
RA Nishihira Y., Miyashita A., Fujiwara H., Oyama T., Nogovicina A.,
RA Sukhomyasova A., Potapova S., Kuwano R., Takahashi H., Nishizawa M.,
RA Onodera O.;
RT "Neuroblastoma amplified sequence gene is associated with a novel
RT short stature syndrome characterised by optic nerve atrophy and
RT Pelger-Huet anomaly.";
RL J. Med. Genet. 47:538-548(2010).
RN [13]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21269460; DOI=10.1186/1752-0509-5-17;
RA Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P.,
RA Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.;
RT "Initial characterization of the human central proteome.";
RL BMC Syst. Biol. 5:17-17(2011).
RN [14]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-473 AND SER-475, AND
RP MASS SPECTROMETRY.
RX PubMed=21406692; DOI=10.1126/scisignal.2001570;
RA Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J.,
RA Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V.,
RA Blagoev B.;
RT "System-wide temporal characterization of the proteome and
RT phosphoproteome of human embryonic stem cell differentiation.";
RL Sci. Signal. 4:RS3-RS3(2011).
CC -!- SUBCELLULAR LOCATION: Cytoplasm.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=A2RRP1-1; Sequence=Displayed;
CC Name=2;
CC IsoId=A2RRP1-2; Sequence=VSP_026445;
CC Note=No experimental confirmation available;
CC -!- TISSUE SPECIFICITY: Broadly expressed, with highest levels in
CC heart and skeletal muscle, and lowest levels in liver, small
CC intestine and thymus. Well expressed in retinal ganglion cells,
CC epidermal skin cells, and leukocytes. Up-regulated together with
CC N-myc in some neuroblastoma cell lines.
CC -!- DISEASE: Short stature, optic nerve atrophy, and Pelger-Huet
CC anomaly (SOPH) [MIM:614800]: An autosomal recessive syndrome
CC characterized by severe postnatal growth retardation, facial
CC dysmorphism with senile face, small hands and feet, normal
CC intelligence, abnormal nuclear shape in neutrophil granulocytes
CC (Pelger-Huet anomaly), and optic atrophy with loss of visual
CC acuity and color vision. Note=The disease is caused by mutations
CC affecting the gene represented in this entry.
CC -!- SIMILARITY: Contains 2 WD repeats.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAD18133.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
CC Sequence=AAD18133.1; Type=Erroneous termination; Positions=2372; Note=Translated as stop;
CC Sequence=CAB43382.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
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DR EMBL; AF388385; AAM93544.1; -; mRNA.
DR EMBL; AC007738; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC074184; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC008278; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC008282; AAY24347.1; -; Genomic_DNA.
DR EMBL; BC051792; AAH51792.2; -; mRNA.
DR EMBL; BC108693; AAI08694.1; ALT_TERM; mRNA.
DR EMBL; BC131735; AAI31736.1; -; mRNA.
DR EMBL; AF056195; AAD18133.1; ALT_SEQ; mRNA.
DR EMBL; AL050281; CAB43382.1; ALT_INIT; mRNA.
DR PIR; T13150; T13150.
DR RefSeq; NP_056993.2; NM_015909.3.
DR UniGene; Hs.467759; -.
DR ProteinModelPortal; A2RRP1; -.
DR SMR; A2RRP1; 321-354.
DR DIP; DIP-56726N; -.
DR IntAct; A2RRP1; 3.
DR MINT; MINT-4838513; -.
DR STRING; 9606.ENSP00000281513; -.
DR PhosphoSite; A2RRP1; -.
DR PaxDb; A2RRP1; -.
DR PeptideAtlas; A2RRP1; -.
DR PRIDE; A2RRP1; -.
DR Ensembl; ENST00000281513; ENSP00000281513; ENSG00000151779.
DR Ensembl; ENST00000441750; ENSP00000413201; ENSG00000151779.
DR GeneID; 51594; -.
DR KEGG; hsa:51594; -.
DR UCSC; uc002rcc.2; human.
DR CTD; 51594; -.
DR GeneCards; GC02M015224; -.
DR H-InvDB; HIX0001840; -.
DR HGNC; HGNC:15625; NBAS.
DR HPA; HPA036817; -.
DR MIM; 608025; gene.
DR MIM; 614800; phenotype.
DR neXtProt; NX_A2RRP1; -.
DR PharmGKB; PA164723457; -.
DR eggNOG; NOG293605; -.
DR HOGENOM; HOG000113737; -.
DR InParanoid; A2RRP1; -.
DR OMA; IDVNWWA; -.
DR OrthoDB; EOG7C5M7C; -.
DR PhylomeDB; A2RRP1; -.
DR ChiTaRS; NBAS; human.
DR GenomeRNAi; 51594; -.
DR NextBio; 55444; -.
DR PRO; PR:A2RRP1; -.
DR ArrayExpress; A2RRP1; -.
DR Bgee; A2RRP1; -.
DR Genevestigator; A2RRP1; -.
DR GO; GO:0005737; C:cytoplasm; IEA:UniProtKB-SubCell.
DR Gene3D; 2.130.10.10; -; 3.
DR InterPro; IPR011044; Quino_amine_DH_bsu.
DR InterPro; IPR013244; Sec39.
DR InterPro; IPR015943; WD40/YVTN_repeat-like_dom.
DR Pfam; PF08314; Sec39; 1.
DR SUPFAM; SSF50969; SSF50969; 2.
DR PROSITE; PS00678; WD_REPEATS_1; FALSE_NEG.
DR PROSITE; PS50082; WD_REPEATS_2; FALSE_NEG.
DR PROSITE; PS50294; WD_REPEATS_REGION; FALSE_NEG.
PE 1: Evidence at protein level;
KW Acetylation; Alternative splicing; Complete proteome; Cytoplasm;
KW Disease mutation; Dwarfism; Phosphoprotein; Polymorphism;
KW Reference proteome; Repeat; WD repeat.
FT CHAIN 1 2371 Neuroblastoma-amplified sequence.
FT /FTId=PRO_0000292806.
FT REPEAT 130 169 WD 1.
FT REPEAT 316 355 WD 2.
FT COMPBIAS 1421 1425 Poly-Thr.
FT COMPBIAS 2242 2247 Poly-Leu.
FT MOD_RES 473 473 Phosphoserine.
FT MOD_RES 475 475 Phosphoserine.
FT MOD_RES 1057 1057 N6-acetyllysine.
FT VAR_SEQ 860 979 Missing (in isoform 2).
FT /FTId=VSP_026445.
FT VARIANT 44 44 Q -> E (in dbSNP:rs77081203).
FT /FTId=VAR_068954.
FT VARIANT 243 243 I -> V (in dbSNP:rs13029846).
FT /FTId=VAR_057611.
FT VARIANT 655 655 K -> R (in dbSNP:rs4668909).
FT /FTId=VAR_057612.
FT VARIANT 949 949 V -> L (in dbSNP:rs74727069).
FT /FTId=VAR_068955.
FT VARIANT 1004 1004 R -> Q (in dbSNP:rs16862653).
FT /FTId=VAR_057613.
FT VARIANT 1009 1009 C -> S (in dbSNP:rs74411619).
FT /FTId=VAR_068956.
FT VARIANT 1178 1178 S -> N (in dbSNP:rs35770368).
FT /FTId=VAR_057614.
FT VARIANT 1914 1914 R -> H (in SOPH).
FT /FTId=VAR_068957.
FT VARIANT 2074 2074 A -> T (in dbSNP:rs6710817).
FT /FTId=VAR_057615.
FT CONFLICT 22 22 I -> T (in Ref. 1; AAM93544).
FT CONFLICT 533 533 K -> E (in Ref. 1; AAM93544).
FT CONFLICT 745 745 F -> L (in Ref. 1; AAM93544).
FT CONFLICT 1102 1102 M -> T (in Ref. 1; AAM93544).
FT CONFLICT 1229 1229 K -> E (in Ref. 4; AAD18133).
FT CONFLICT 1277 1277 E -> G (in Ref. 1; AAM93544).
FT CONFLICT 1784 1784 H -> Y (in Ref. 1; AAM93544).
FT CONFLICT 1797 1797 G -> S (in Ref. 1; AAM93544).
FT CONFLICT 1854 1854 L -> S (in Ref. 1; AAM93544).
FT CONFLICT 1997 1997 E -> D (in Ref. 4; AAD18133).
FT CONFLICT 2028 2028 P -> L (in Ref. 4; AAD18133).
FT CONFLICT 2030 2030 D -> N (in Ref. 4; AAD18133).
FT CONFLICT 2033 2033 P -> T (in Ref. 4; AAD18133).
FT CONFLICT 2171 2171 A -> T (in Ref. 4; AAD18133).
SQ SEQUENCE 2371 AA; 268571 MW; 54500EFAA487FB94 CRC64;
MAAPESGPAL SPGTAEGEEE TILYDLLVNT EWPPETEVQP RGNQKHGASF IITKAIRDRL
LFLRQYIWYS PAPFLLPDGL VRLVNKQINW HLVLASNGKL LAAVQDQCVE IRSAKDDFTS
IIGKCQVPKD PKPQWRRVAW SYDCTLLAYA ESTGTVRVFD LMGSELFVIS PASSFIGDLS
YAIAGLIFLE YKASAQWSAE LLVINYRGEL RSYLVSVGTN QSYQESHCFS FSSHYPHGIN
TAIYHPGHRL LLVGGCETAE VGMSKASSCG LSAWRVLSGS PYYKQVTNGG DGVTAVPKTL
GLLRMLSVKF YSRQGQEQDG IFKMSLSPDG MLLAAIHFSG KLSIWAIPSL KQQGEWGQNE
QPGYDDLNPD WRLSTEKRKK IKDKESFYPL IDVNWWADSA VTLARCSGAL TVSSVKTLKN
LLGKSCEWFE PSPQVTATHD GGFLSLECEI KLAPKRSRLE TRAGEEDEGE EDSDSDYEIS
AKARYFGYIK QGLYLVTEME RFAPPRKRPR TITKNYRLVS LRSTTPEELY QRKIESEEYE
EALSLAHTYG LDTDLVYQRQ WRKSAVNVAS IQNYLSKIKK RSWVLHECLE RVPENVDAAK
ELLQYGLKGT DLEALLAIGK GADDGRFTLP GEIDIDSISY EELSPPDEEP AKNKKEKELK
KRQELLKLVN FSKLTLEQKE LCRCRRKLLT YLDRLATYEE ILGVPHASEQ RYDAEFFKKF
RNQNIVLSAR TYAQESNVQA LEILFTYHGS DLLPHRLAIL SNFPETTSPH EYSVLLPEAC
FNGDSLMIIP WHEHKHRAKD WCEELACRMV VEPNLQDESE FLYAAQPELL RFRMTQLTVE
KVMDWYQTRA EEIEHYARQV DCALSLIRLG MERNIPGLLV LCDNLVTLET LVYEARCDVT
LTLKELQQMK DIEKLRLLMN SCSEDKYVTS AYQWMVPFLH RCEKQSPGVA NELLKEYLVT
LAKGDLKFPL KIFQHSKPDL QQKIIPDQDQ LMAIALECIY TCERNDQLCL CYDLLECLPE
RGYGDKTEAT TKLHDMVDQL EQILSVSELL EKHGLEKPIS FVKNTQSSSE EARKLMVRLT
RHTGRKQPPV SESHWRTLLQ DMLTMQQNVY TCLDSDACYE IFTESLLCSS RLENIHLAGQ
MMHCSACSEN PPAGIAHKGK PHYRVSYEKS IDLVLAASRE YFNSSTNLTD SCMDLARCCL
QLITDRPPAI QEELDLIQAV GCLEEFGVKI LPLQVRLCPD RISLIKECIS QSPTCYKQST
KLLGLAELLR VAGENPEERR GQVLILLVEQ ALRFHDYKAA SMHCQELMAT GYPKSWDVCS
QLGQSEGYQD LATRQELMAF ALTHCPPSSI ELLLAASSSL QTEILYQRVN FQIHHEGGEN
ISASPLTSKA VQEDEVGVPG SNSADLLRWT TATTMKVLSN TTTTTKAVLQ AVSDGQWWKK
SLTYLRPLQG QKCGGAYQIG TTANEDLEKQ GCHPFYESVI SNPFVAESEG TYDTYQHVPV
ESFAEVLLRT GKLAEAKNKG EVFPTTEVLL QLASEALPND MTLALAYLLA LPQVLDANRC
FEKQSPSALS LQLAAYYYSL QIYARLAPCF RDKCHPLYRA DPKELIKMVT RHVTRHEHEA
WPEDLISLTK QLHCYNERLL DFTQAQILQG LRKGVDVQRF TADDQYKRET ILGLAETLEE
SVYSIAISLA QRYSVSRWEV FMTHLEFLFT DSGLSTLEIE NRAQDLHLFE TLKTDPEAFH
QHMVKYIYPT IGGFDHERLQ YYFTLLENCG CADLGNCAIK PETHIRLLKK FKVVASGLNY
KKLTDENMSP LEALEPVLSS QNILSISKLV PKIPEKDGQM LSPSSLYTIW LQKLFWTGDP
HLIKQVPGSS PEWLHAYDVC MKYFDRLHPG DLITVVDAVT FSPKAVTKLS VEARKEMTRK
AIKTVKHFIE KPRKRNSEDE AQEAKDSKVT YADTLNHLEK SLAHLETLSH SFILSLKNSE
QETLQKYSHL YDLSRSEKEK LHDEAVAICL DGQPLAMIQQ LLEVAVGPLD ISPKDIVQSA
IMKIISALSG GSADLGGPRD PLKVLEGVVA AVHASVDKGE ELVSPEDLLE WLRPFCADDA
WPVRPRIHVL QILGQSFHLT EEDSKLLVFF RTEAILKASW PQRQVDIADI ENEENRYCLF
MELLESSHHE AEFQHLVLLL QAWPPMKSEY VITNNPWVRL ATVMLTRCTM ENKEGLGNEV
LKMCRSLYNT KQMLPAEGVK ELCLLLLNQS LLLPSLKLLL ESRDEHLHEM ALEQITAVTT
VNDSNCDQEL LSLLLDAKLL VKCVSTPFYP RIVDHLLASL QQGRWDAEEL GRHLREAGHE
AEAGSLLLAV RGTHQAFRTF STALRAAQHW V
//
ID NBAS_HUMAN Reviewed; 2371 AA.
AC A2RRP1; O95790; Q2VPJ7; Q53TK6; Q86V39; Q8NFY8; Q9Y3W5;
DT 26-JUN-2007, integrated into UniProtKB/Swiss-Prot.
read moreDT 03-MAR-2009, sequence version 2.
DT 22-JAN-2014, entry version 62.
DE RecName: Full=Neuroblastoma-amplified sequence;
DE AltName: Full=Neuroblastoma-amplified gene protein;
GN Name=NBAS; Synonyms=NAG;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC Catarrhini; Hominidae; Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT ARG-655, AND TISSUE
RP SPECIFICITY.
RC TISSUE=Neuroblastoma;
RX PubMed=12706883; DOI=10.1016/S0378-1119(03)00459-1;
RA Scott D.K., Board J.R., Lu X., Pearson A.D.J., Kenyon R.M., Lunec J.;
RT "The neuroblastoma amplified gene, NAG: genomic structure and
RT characterisation of the 7.3 kb transcript predominantly expressed in
RT neuroblastoma.";
RL Gene 307:1-11(2003).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], AND VARIANTS VAL-243
RP AND ARG-655.
RX PubMed=15815621; DOI=10.1038/nature03466;
RA Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H.,
RA Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M.,
RA Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E.,
RA Kremitzki C., Oddy L., Du H., Sun H., Bradshaw-Cordum H., Ali J.,
RA Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C.,
RA Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J.,
RA Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A.,
RA Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K.,
RA Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M.,
RA Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K.,
RA McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C.,
RA Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N.,
RA Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M.,
RA Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E.,
RA Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P.,
RA Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A.,
RA Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A.,
RA Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T.,
RA Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D.,
RA Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X.,
RA McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C.,
RA Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S.,
RA Miller W., Eichler E.E., Bork P., Suyama M., Torrents D.,
RA Waterston R.H., Wilson R.K.;
RT "Generation and annotation of the DNA sequences of human chromosomes 2
RT and 4.";
RL Nature 434:724-731(2005).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), NUCLEOTIDE
RP SEQUENCE [LARGE SCALE MRNA] OF 834-2371 (ISOFORM 2), AND VARIANT
RP THR-2074.
RC TISSUE=Eye, and PNS;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA
RT project: the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [4]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 993-2371 (ISOFORMS 1/2), AND TISSUE
RP SPECIFICITY.
RX PubMed=9926938; DOI=10.1038/sj.onc.1202287;
RA Wimmer K., Zhu X.X., Lamb B.J., Kuick R., Ambros P.F., Kovar H.,
RA Thoraval D., Motyka S., Alberts J.R., Hanash S.M.;
RT "Co-amplification of a novel gene, NAG, with the N-myc gene in
RT neuroblastoma.";
RL Oncogene 18:233-238(1999).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1068-2371 (ISOFORMS 1/2).
RC TISSUE=Uterus;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H.,
RA Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K.,
RA Ottenwaelder B., Poustka A., Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [6]
RP TISSUE SPECIFICITY.
RX PubMed=10882752; DOI=10.1136/jmg.37.7.501;
RA Fruehwald M.C., O'Dorisio M.S., Rush L.J., Reiter J.L.,
RA Smiraglia D.J., Wenger G., Costello J.F., White P.S., Krahe R.,
RA Brodeur G.M., Plass C.;
RT "Gene amplification in PNETs/medulloblastomas: mapping of a novel
RT amplified gene within the MYCN amplicon.";
RL J. Med. Genet. 37:501-509(2000).
RN [7]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-473 AND SER-475, AND
RP MASS SPECTROMETRY.
RC TISSUE=Cervix carcinoma;
RX PubMed=18669648; DOI=10.1073/pnas.0805139105;
RA Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E.,
RA Elledge S.J., Gygi S.P.;
RT "A quantitative atlas of mitotic phosphorylation.";
RL Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008).
RN [8]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Liver;
RX PubMed=18318008; DOI=10.1002/pmic.200700884;
RA Han G., Ye M., Zhou H., Jiang X., Feng S., Jiang X., Tian R., Wan D.,
RA Zou H., Gu J.;
RT "Large-scale phosphoproteome analysis of human liver tissue by
RT enrichment and fractionation of phosphopeptides with strong anion
RT exchange chromatography.";
RL Proteomics 8:1346-1361(2008).
RN [9]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=19413330; DOI=10.1021/ac9004309;
RA Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J.,
RA Mohammed S.;
RT "Lys-N and trypsin cover complementary parts of the phosphoproteome in
RT a refined SCX-based approach.";
RL Anal. Chem. 81:4493-4501(2009).
RN [10]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-473 AND SER-475, AND
RP MASS SPECTROMETRY.
RC TISSUE=Leukemic T-cell;
RX PubMed=19690332; DOI=10.1126/scisignal.2000007;
RA Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K.,
RA Rodionov V., Han D.K.;
RT "Quantitative phosphoproteomic analysis of T cell receptor signaling
RT reveals system-wide modulation of protein-protein interactions.";
RL Sci. Signal. 2:RA46-RA46(2009).
RN [11]
RP ACETYLATION [LARGE SCALE ANALYSIS] AT LYS-1057, AND MASS SPECTROMETRY.
RX PubMed=19608861; DOI=10.1126/science.1175371;
RA Choudhary C., Kumar C., Gnad F., Nielsen M.L., Rehman M.,
RA Walther T.C., Olsen J.V., Mann M.;
RT "Lysine acetylation targets protein complexes and co-regulates major
RT cellular functions.";
RL Science 325:834-840(2009).
RN [12]
RP SUBCELLULAR LOCATION, TISSUE SPECIFICITY, VARIANT SOPH HIS-1914, AND
RP VARIANTS GLU-44; LEU-949 AND SER-1009.
RX PubMed=20577004; DOI=10.1136/jmg.2009.074815;
RA Maksimova N., Hara K., Nikolaeva I., Chun-Feng T., Usui T., Takagi M.,
RA Nishihira Y., Miyashita A., Fujiwara H., Oyama T., Nogovicina A.,
RA Sukhomyasova A., Potapova S., Kuwano R., Takahashi H., Nishizawa M.,
RA Onodera O.;
RT "Neuroblastoma amplified sequence gene is associated with a novel
RT short stature syndrome characterised by optic nerve atrophy and
RT Pelger-Huet anomaly.";
RL J. Med. Genet. 47:538-548(2010).
RN [13]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21269460; DOI=10.1186/1752-0509-5-17;
RA Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P.,
RA Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.;
RT "Initial characterization of the human central proteome.";
RL BMC Syst. Biol. 5:17-17(2011).
RN [14]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-473 AND SER-475, AND
RP MASS SPECTROMETRY.
RX PubMed=21406692; DOI=10.1126/scisignal.2001570;
RA Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J.,
RA Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V.,
RA Blagoev B.;
RT "System-wide temporal characterization of the proteome and
RT phosphoproteome of human embryonic stem cell differentiation.";
RL Sci. Signal. 4:RS3-RS3(2011).
CC -!- SUBCELLULAR LOCATION: Cytoplasm.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=A2RRP1-1; Sequence=Displayed;
CC Name=2;
CC IsoId=A2RRP1-2; Sequence=VSP_026445;
CC Note=No experimental confirmation available;
CC -!- TISSUE SPECIFICITY: Broadly expressed, with highest levels in
CC heart and skeletal muscle, and lowest levels in liver, small
CC intestine and thymus. Well expressed in retinal ganglion cells,
CC epidermal skin cells, and leukocytes. Up-regulated together with
CC N-myc in some neuroblastoma cell lines.
CC -!- DISEASE: Short stature, optic nerve atrophy, and Pelger-Huet
CC anomaly (SOPH) [MIM:614800]: An autosomal recessive syndrome
CC characterized by severe postnatal growth retardation, facial
CC dysmorphism with senile face, small hands and feet, normal
CC intelligence, abnormal nuclear shape in neutrophil granulocytes
CC (Pelger-Huet anomaly), and optic atrophy with loss of visual
CC acuity and color vision. Note=The disease is caused by mutations
CC affecting the gene represented in this entry.
CC -!- SIMILARITY: Contains 2 WD repeats.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAD18133.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
CC Sequence=AAD18133.1; Type=Erroneous termination; Positions=2372; Note=Translated as stop;
CC Sequence=CAB43382.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
CC -----------------------------------------------------------------------
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DR EMBL; AF388385; AAM93544.1; -; mRNA.
DR EMBL; AC007738; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC074184; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC008278; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC008282; AAY24347.1; -; Genomic_DNA.
DR EMBL; BC051792; AAH51792.2; -; mRNA.
DR EMBL; BC108693; AAI08694.1; ALT_TERM; mRNA.
DR EMBL; BC131735; AAI31736.1; -; mRNA.
DR EMBL; AF056195; AAD18133.1; ALT_SEQ; mRNA.
DR EMBL; AL050281; CAB43382.1; ALT_INIT; mRNA.
DR PIR; T13150; T13150.
DR RefSeq; NP_056993.2; NM_015909.3.
DR UniGene; Hs.467759; -.
DR ProteinModelPortal; A2RRP1; -.
DR SMR; A2RRP1; 321-354.
DR DIP; DIP-56726N; -.
DR IntAct; A2RRP1; 3.
DR MINT; MINT-4838513; -.
DR STRING; 9606.ENSP00000281513; -.
DR PhosphoSite; A2RRP1; -.
DR PaxDb; A2RRP1; -.
DR PeptideAtlas; A2RRP1; -.
DR PRIDE; A2RRP1; -.
DR Ensembl; ENST00000281513; ENSP00000281513; ENSG00000151779.
DR Ensembl; ENST00000441750; ENSP00000413201; ENSG00000151779.
DR GeneID; 51594; -.
DR KEGG; hsa:51594; -.
DR UCSC; uc002rcc.2; human.
DR CTD; 51594; -.
DR GeneCards; GC02M015224; -.
DR H-InvDB; HIX0001840; -.
DR HGNC; HGNC:15625; NBAS.
DR HPA; HPA036817; -.
DR MIM; 608025; gene.
DR MIM; 614800; phenotype.
DR neXtProt; NX_A2RRP1; -.
DR PharmGKB; PA164723457; -.
DR eggNOG; NOG293605; -.
DR HOGENOM; HOG000113737; -.
DR InParanoid; A2RRP1; -.
DR OMA; IDVNWWA; -.
DR OrthoDB; EOG7C5M7C; -.
DR PhylomeDB; A2RRP1; -.
DR ChiTaRS; NBAS; human.
DR GenomeRNAi; 51594; -.
DR NextBio; 55444; -.
DR PRO; PR:A2RRP1; -.
DR ArrayExpress; A2RRP1; -.
DR Bgee; A2RRP1; -.
DR Genevestigator; A2RRP1; -.
DR GO; GO:0005737; C:cytoplasm; IEA:UniProtKB-SubCell.
DR Gene3D; 2.130.10.10; -; 3.
DR InterPro; IPR011044; Quino_amine_DH_bsu.
DR InterPro; IPR013244; Sec39.
DR InterPro; IPR015943; WD40/YVTN_repeat-like_dom.
DR Pfam; PF08314; Sec39; 1.
DR SUPFAM; SSF50969; SSF50969; 2.
DR PROSITE; PS00678; WD_REPEATS_1; FALSE_NEG.
DR PROSITE; PS50082; WD_REPEATS_2; FALSE_NEG.
DR PROSITE; PS50294; WD_REPEATS_REGION; FALSE_NEG.
PE 1: Evidence at protein level;
KW Acetylation; Alternative splicing; Complete proteome; Cytoplasm;
KW Disease mutation; Dwarfism; Phosphoprotein; Polymorphism;
KW Reference proteome; Repeat; WD repeat.
FT CHAIN 1 2371 Neuroblastoma-amplified sequence.
FT /FTId=PRO_0000292806.
FT REPEAT 130 169 WD 1.
FT REPEAT 316 355 WD 2.
FT COMPBIAS 1421 1425 Poly-Thr.
FT COMPBIAS 2242 2247 Poly-Leu.
FT MOD_RES 473 473 Phosphoserine.
FT MOD_RES 475 475 Phosphoserine.
FT MOD_RES 1057 1057 N6-acetyllysine.
FT VAR_SEQ 860 979 Missing (in isoform 2).
FT /FTId=VSP_026445.
FT VARIANT 44 44 Q -> E (in dbSNP:rs77081203).
FT /FTId=VAR_068954.
FT VARIANT 243 243 I -> V (in dbSNP:rs13029846).
FT /FTId=VAR_057611.
FT VARIANT 655 655 K -> R (in dbSNP:rs4668909).
FT /FTId=VAR_057612.
FT VARIANT 949 949 V -> L (in dbSNP:rs74727069).
FT /FTId=VAR_068955.
FT VARIANT 1004 1004 R -> Q (in dbSNP:rs16862653).
FT /FTId=VAR_057613.
FT VARIANT 1009 1009 C -> S (in dbSNP:rs74411619).
FT /FTId=VAR_068956.
FT VARIANT 1178 1178 S -> N (in dbSNP:rs35770368).
FT /FTId=VAR_057614.
FT VARIANT 1914 1914 R -> H (in SOPH).
FT /FTId=VAR_068957.
FT VARIANT 2074 2074 A -> T (in dbSNP:rs6710817).
FT /FTId=VAR_057615.
FT CONFLICT 22 22 I -> T (in Ref. 1; AAM93544).
FT CONFLICT 533 533 K -> E (in Ref. 1; AAM93544).
FT CONFLICT 745 745 F -> L (in Ref. 1; AAM93544).
FT CONFLICT 1102 1102 M -> T (in Ref. 1; AAM93544).
FT CONFLICT 1229 1229 K -> E (in Ref. 4; AAD18133).
FT CONFLICT 1277 1277 E -> G (in Ref. 1; AAM93544).
FT CONFLICT 1784 1784 H -> Y (in Ref. 1; AAM93544).
FT CONFLICT 1797 1797 G -> S (in Ref. 1; AAM93544).
FT CONFLICT 1854 1854 L -> S (in Ref. 1; AAM93544).
FT CONFLICT 1997 1997 E -> D (in Ref. 4; AAD18133).
FT CONFLICT 2028 2028 P -> L (in Ref. 4; AAD18133).
FT CONFLICT 2030 2030 D -> N (in Ref. 4; AAD18133).
FT CONFLICT 2033 2033 P -> T (in Ref. 4; AAD18133).
FT CONFLICT 2171 2171 A -> T (in Ref. 4; AAD18133).
SQ SEQUENCE 2371 AA; 268571 MW; 54500EFAA487FB94 CRC64;
MAAPESGPAL SPGTAEGEEE TILYDLLVNT EWPPETEVQP RGNQKHGASF IITKAIRDRL
LFLRQYIWYS PAPFLLPDGL VRLVNKQINW HLVLASNGKL LAAVQDQCVE IRSAKDDFTS
IIGKCQVPKD PKPQWRRVAW SYDCTLLAYA ESTGTVRVFD LMGSELFVIS PASSFIGDLS
YAIAGLIFLE YKASAQWSAE LLVINYRGEL RSYLVSVGTN QSYQESHCFS FSSHYPHGIN
TAIYHPGHRL LLVGGCETAE VGMSKASSCG LSAWRVLSGS PYYKQVTNGG DGVTAVPKTL
GLLRMLSVKF YSRQGQEQDG IFKMSLSPDG MLLAAIHFSG KLSIWAIPSL KQQGEWGQNE
QPGYDDLNPD WRLSTEKRKK IKDKESFYPL IDVNWWADSA VTLARCSGAL TVSSVKTLKN
LLGKSCEWFE PSPQVTATHD GGFLSLECEI KLAPKRSRLE TRAGEEDEGE EDSDSDYEIS
AKARYFGYIK QGLYLVTEME RFAPPRKRPR TITKNYRLVS LRSTTPEELY QRKIESEEYE
EALSLAHTYG LDTDLVYQRQ WRKSAVNVAS IQNYLSKIKK RSWVLHECLE RVPENVDAAK
ELLQYGLKGT DLEALLAIGK GADDGRFTLP GEIDIDSISY EELSPPDEEP AKNKKEKELK
KRQELLKLVN FSKLTLEQKE LCRCRRKLLT YLDRLATYEE ILGVPHASEQ RYDAEFFKKF
RNQNIVLSAR TYAQESNVQA LEILFTYHGS DLLPHRLAIL SNFPETTSPH EYSVLLPEAC
FNGDSLMIIP WHEHKHRAKD WCEELACRMV VEPNLQDESE FLYAAQPELL RFRMTQLTVE
KVMDWYQTRA EEIEHYARQV DCALSLIRLG MERNIPGLLV LCDNLVTLET LVYEARCDVT
LTLKELQQMK DIEKLRLLMN SCSEDKYVTS AYQWMVPFLH RCEKQSPGVA NELLKEYLVT
LAKGDLKFPL KIFQHSKPDL QQKIIPDQDQ LMAIALECIY TCERNDQLCL CYDLLECLPE
RGYGDKTEAT TKLHDMVDQL EQILSVSELL EKHGLEKPIS FVKNTQSSSE EARKLMVRLT
RHTGRKQPPV SESHWRTLLQ DMLTMQQNVY TCLDSDACYE IFTESLLCSS RLENIHLAGQ
MMHCSACSEN PPAGIAHKGK PHYRVSYEKS IDLVLAASRE YFNSSTNLTD SCMDLARCCL
QLITDRPPAI QEELDLIQAV GCLEEFGVKI LPLQVRLCPD RISLIKECIS QSPTCYKQST
KLLGLAELLR VAGENPEERR GQVLILLVEQ ALRFHDYKAA SMHCQELMAT GYPKSWDVCS
QLGQSEGYQD LATRQELMAF ALTHCPPSSI ELLLAASSSL QTEILYQRVN FQIHHEGGEN
ISASPLTSKA VQEDEVGVPG SNSADLLRWT TATTMKVLSN TTTTTKAVLQ AVSDGQWWKK
SLTYLRPLQG QKCGGAYQIG TTANEDLEKQ GCHPFYESVI SNPFVAESEG TYDTYQHVPV
ESFAEVLLRT GKLAEAKNKG EVFPTTEVLL QLASEALPND MTLALAYLLA LPQVLDANRC
FEKQSPSALS LQLAAYYYSL QIYARLAPCF RDKCHPLYRA DPKELIKMVT RHVTRHEHEA
WPEDLISLTK QLHCYNERLL DFTQAQILQG LRKGVDVQRF TADDQYKRET ILGLAETLEE
SVYSIAISLA QRYSVSRWEV FMTHLEFLFT DSGLSTLEIE NRAQDLHLFE TLKTDPEAFH
QHMVKYIYPT IGGFDHERLQ YYFTLLENCG CADLGNCAIK PETHIRLLKK FKVVASGLNY
KKLTDENMSP LEALEPVLSS QNILSISKLV PKIPEKDGQM LSPSSLYTIW LQKLFWTGDP
HLIKQVPGSS PEWLHAYDVC MKYFDRLHPG DLITVVDAVT FSPKAVTKLS VEARKEMTRK
AIKTVKHFIE KPRKRNSEDE AQEAKDSKVT YADTLNHLEK SLAHLETLSH SFILSLKNSE
QETLQKYSHL YDLSRSEKEK LHDEAVAICL DGQPLAMIQQ LLEVAVGPLD ISPKDIVQSA
IMKIISALSG GSADLGGPRD PLKVLEGVVA AVHASVDKGE ELVSPEDLLE WLRPFCADDA
WPVRPRIHVL QILGQSFHLT EEDSKLLVFF RTEAILKASW PQRQVDIADI ENEENRYCLF
MELLESSHHE AEFQHLVLLL QAWPPMKSEY VITNNPWVRL ATVMLTRCTM ENKEGLGNEV
LKMCRSLYNT KQMLPAEGVK ELCLLLLNQS LLLPSLKLLL ESRDEHLHEM ALEQITAVTT
VNDSNCDQEL LSLLLDAKLL VKCVSTPFYP RIVDHLLASL QQGRWDAEEL GRHLREAGHE
AEAGSLLLAV RGTHQAFRTF STALRAAQHW V
//
MIM
608025
*RECORD*
*FIELD* NO
608025
*FIELD* TI
*608025 NEUROBLASTOMA-AMPLIFIED SEQUENCE; NBAS
;;NEUROBLASTOMA-AMPLIFIED GENE; NAG
read more*FIELD* TX
CLONING
Using 2-dimensional analysis to identify genes coamplified with MYCN
(164840) in neuroblastoma cell lines, followed by searching an EST
database and RT-PCR of cDNA from neuroblastoma cell lines, Wimmer et al.
(1999) cloned NAG. The deduced 1,352-amino acid protein contains a
leucine zipper domain and a ribosomal protein S14 (130620) signature
domain in its C-terminal half. Northern blot analysis detected a 4.5-kb
transcript in neuroblastoma cell lines. RNA dot blot analysis detected
expression in all tissues examined, with strongest expression in adult
testis, pancreas, pituitary, and adrenal gland, and in fetal heart,
kidney, liver, and lung.
By long-range PCR and 5-prime and 3-prime RACE, Scott et al. (2003)
cloned 2 NAG variants from a neuroblastoma cell line. The shorter cDNA
corresponds to the 4.5-kb transcript identified by Wimmer et al. (1999).
The longer cDNA represents a 7.3-kb transcript encoding a deduced
2,371-amino acid protein with a novel N-terminal sequence containing an
additional leucine zipper motif, 3 putative transmembrane helices, an
endoplasmic reticulum signal sequence, and 2 peroxisomal targeting
signals. NAG has 2 clusters of nuclear localization signals, one within
the N-terminal sequence unique to the longer variant and the other
within the common C-terminal sequence. Northern blot analysis detected
both transcripts in several neuroblastoma cell lines; the longer
transcript was generally more abundant. A database search revealed NAG
ESTs in all tissues and tumor types analyzed. NAG shares 83 to 86%
identity with orthologous mouse, rat, and bovine proteins. The
C-terminal leucine zipper motifs and the ribosomal S14 motif are not
conserved in plant and nematode proteins.
By immunohistochemical analysis, Maksimova et al. (2010) demonstrated
expression of NBAS in the cytoplasm of retinal ganglia cells, with
staining of some inner layer cells, whereas the outer layer cells and
optic nerve were not stained. NBAS was also expressed in the cytoplasm
of squamous epidermal cells and leukocytes.
GENE STRUCTURE
Scott et al. (2003) determined that the NAG gene contains 52 exons and
spans 420 kb. The 7.3-kb NAG transcript uses all 52 exons, while the
4.5-kb transcript lacks exons 5 through 25 and part of exon 26. The
5-prime flanking region contains a weak TATA box, a CCAAT box, and
binding sites for SP1 (189906), OCT1 (164175), and MYC. A CpG island
begins at position -187 and extends into intron 1.
MAPPING
By FISH, Wimmer et al. (1999) mapped the NBAS gene to chromosome
2p24-p23, distal to the MYCN gene.
GENE FUNCTION
By Southern blot analysis, Wimmer et al. (1999) found NAG amplified in 5
of 8 (63%) MYCN-amplified neuroblastoma cell lines and in 9 of 13 (70%)
MYCN-amplified neuroblastoma tumors. Tumors that did not show MYCN
amplification lacked NAG amplification. Northern blot analysis
determined that amplification of the NAG gene correlated with increased
NAG expression.
Scott et al. (2003) determined that the whole NAG gene was amplified in
1 of 6 (17%) MYCN-amplified cell lines and in 10 of 50 (20%)
MYCN-amplified tumors examined. No amplification of NAG was observed in
the absence of MYCN amplification in more than 100 tumors studied. A
neuroepithelioma cell line overexpressing the related MYC gene (190080),
but not MYCN, showed increased NAG expression. Scott et al. (2003) found
that coamplification of NAG was associated with low disease stage in
MYCN-amplified tumors.
MOLECULAR GENETICS
In 33 Yakut patients from 30 families with short stature, optic nerve
atrophy, and Pelger-Huet anomaly (SOPH syndrome; 614800) mapping to
chromosome 2p24, Maksimova et al. (2010) analyzed 2 candidate genes and
identified homozygosity for a missense mutation in the NBAS gene
(R1914H; 608025.0001) that segregated with disease. The minor allele
frequency in the normal Yakut population was 0.49%.
*FIELD* AV
.0001
SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY
NBAS, ARG1914HIS
In 33 Yakut patients from 30 families with short stature, optic nerve
atrophy, and Pelger-Huet anomaly (SOPH syndrome; 614800), Maksimova et
al. (2010) identified a 5741G-A transition in exon 45 of the NBAS gene,
resulting in an arg1914-to-his (R1914H) substitution at a highly
conserved residue. The minor allele frequency in the normal Yakut
population was 0.49%, but none of the 203 Yakut controls carried the
mutation in homozygous state, and the mutation was not found in 100
Japanese controls.
*FIELD* RF
1. Maksimova, N.; Hara, K.; Nikolaeva, I.; Chun-Feng, T.; Usui, T.;
Takagi, M.; Nishihira, Y.; Miyashita, A.; Fujiwara, H.; Oyama, T.;
Nogovicina, A.; Sukhomyasova, A.; Potapova, S.; Kuwano, R.; Takashashi,
H.; Nishizawa, M.; Onodera, O.: Neuroblastoma amplified sequence
gene is associated with a novel short stature syndrome characterised
by optic nerve atrophy and Pelger-Huet anomaly. J. Med. Genet. 47:
538-548, 2010.
2. Scott, D. K.; Board, J. R.; Lu, X.; Pearson, A. D. J.; Kenyon,
R. M.; Lunec, J.: The neuroblastoma amplified gene, NAG: genomic
structure and characterisation of the 7.3 kb transcript predominantly
expressed in neuroblastoma. Gene 307: 1-11, 2003.
3. Wimmer, K.; Zhu, X. X.; Lamb, B. J.; Kuick, R.; Ambros, P. F.;
Kovar, H.; Thoraval, D.; Motyka, S.; Alberts, J. R.; Hanash, S. M.
: Co-amplification of a novel gene, NAG, with the N-myc gene in neuroblastoma. Oncogene 18:
233-238, 1999.
*FIELD* CN
Marla J. F. O'Neill - updated: 09/04/2012
*FIELD* CD
Patricia A. Hartz: 8/8/2003
*FIELD* ED
carol: 09/04/2012
alopez: 8/19/2009
carol: 10/3/2003
mgross: 8/8/2003
*RECORD*
*FIELD* NO
608025
*FIELD* TI
*608025 NEUROBLASTOMA-AMPLIFIED SEQUENCE; NBAS
;;NEUROBLASTOMA-AMPLIFIED GENE; NAG
read more*FIELD* TX
CLONING
Using 2-dimensional analysis to identify genes coamplified with MYCN
(164840) in neuroblastoma cell lines, followed by searching an EST
database and RT-PCR of cDNA from neuroblastoma cell lines, Wimmer et al.
(1999) cloned NAG. The deduced 1,352-amino acid protein contains a
leucine zipper domain and a ribosomal protein S14 (130620) signature
domain in its C-terminal half. Northern blot analysis detected a 4.5-kb
transcript in neuroblastoma cell lines. RNA dot blot analysis detected
expression in all tissues examined, with strongest expression in adult
testis, pancreas, pituitary, and adrenal gland, and in fetal heart,
kidney, liver, and lung.
By long-range PCR and 5-prime and 3-prime RACE, Scott et al. (2003)
cloned 2 NAG variants from a neuroblastoma cell line. The shorter cDNA
corresponds to the 4.5-kb transcript identified by Wimmer et al. (1999).
The longer cDNA represents a 7.3-kb transcript encoding a deduced
2,371-amino acid protein with a novel N-terminal sequence containing an
additional leucine zipper motif, 3 putative transmembrane helices, an
endoplasmic reticulum signal sequence, and 2 peroxisomal targeting
signals. NAG has 2 clusters of nuclear localization signals, one within
the N-terminal sequence unique to the longer variant and the other
within the common C-terminal sequence. Northern blot analysis detected
both transcripts in several neuroblastoma cell lines; the longer
transcript was generally more abundant. A database search revealed NAG
ESTs in all tissues and tumor types analyzed. NAG shares 83 to 86%
identity with orthologous mouse, rat, and bovine proteins. The
C-terminal leucine zipper motifs and the ribosomal S14 motif are not
conserved in plant and nematode proteins.
By immunohistochemical analysis, Maksimova et al. (2010) demonstrated
expression of NBAS in the cytoplasm of retinal ganglia cells, with
staining of some inner layer cells, whereas the outer layer cells and
optic nerve were not stained. NBAS was also expressed in the cytoplasm
of squamous epidermal cells and leukocytes.
GENE STRUCTURE
Scott et al. (2003) determined that the NAG gene contains 52 exons and
spans 420 kb. The 7.3-kb NAG transcript uses all 52 exons, while the
4.5-kb transcript lacks exons 5 through 25 and part of exon 26. The
5-prime flanking region contains a weak TATA box, a CCAAT box, and
binding sites for SP1 (189906), OCT1 (164175), and MYC. A CpG island
begins at position -187 and extends into intron 1.
MAPPING
By FISH, Wimmer et al. (1999) mapped the NBAS gene to chromosome
2p24-p23, distal to the MYCN gene.
GENE FUNCTION
By Southern blot analysis, Wimmer et al. (1999) found NAG amplified in 5
of 8 (63%) MYCN-amplified neuroblastoma cell lines and in 9 of 13 (70%)
MYCN-amplified neuroblastoma tumors. Tumors that did not show MYCN
amplification lacked NAG amplification. Northern blot analysis
determined that amplification of the NAG gene correlated with increased
NAG expression.
Scott et al. (2003) determined that the whole NAG gene was amplified in
1 of 6 (17%) MYCN-amplified cell lines and in 10 of 50 (20%)
MYCN-amplified tumors examined. No amplification of NAG was observed in
the absence of MYCN amplification in more than 100 tumors studied. A
neuroepithelioma cell line overexpressing the related MYC gene (190080),
but not MYCN, showed increased NAG expression. Scott et al. (2003) found
that coamplification of NAG was associated with low disease stage in
MYCN-amplified tumors.
MOLECULAR GENETICS
In 33 Yakut patients from 30 families with short stature, optic nerve
atrophy, and Pelger-Huet anomaly (SOPH syndrome; 614800) mapping to
chromosome 2p24, Maksimova et al. (2010) analyzed 2 candidate genes and
identified homozygosity for a missense mutation in the NBAS gene
(R1914H; 608025.0001) that segregated with disease. The minor allele
frequency in the normal Yakut population was 0.49%.
*FIELD* AV
.0001
SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY
NBAS, ARG1914HIS
In 33 Yakut patients from 30 families with short stature, optic nerve
atrophy, and Pelger-Huet anomaly (SOPH syndrome; 614800), Maksimova et
al. (2010) identified a 5741G-A transition in exon 45 of the NBAS gene,
resulting in an arg1914-to-his (R1914H) substitution at a highly
conserved residue. The minor allele frequency in the normal Yakut
population was 0.49%, but none of the 203 Yakut controls carried the
mutation in homozygous state, and the mutation was not found in 100
Japanese controls.
*FIELD* RF
1. Maksimova, N.; Hara, K.; Nikolaeva, I.; Chun-Feng, T.; Usui, T.;
Takagi, M.; Nishihira, Y.; Miyashita, A.; Fujiwara, H.; Oyama, T.;
Nogovicina, A.; Sukhomyasova, A.; Potapova, S.; Kuwano, R.; Takashashi,
H.; Nishizawa, M.; Onodera, O.: Neuroblastoma amplified sequence
gene is associated with a novel short stature syndrome characterised
by optic nerve atrophy and Pelger-Huet anomaly. J. Med. Genet. 47:
538-548, 2010.
2. Scott, D. K.; Board, J. R.; Lu, X.; Pearson, A. D. J.; Kenyon,
R. M.; Lunec, J.: The neuroblastoma amplified gene, NAG: genomic
structure and characterisation of the 7.3 kb transcript predominantly
expressed in neuroblastoma. Gene 307: 1-11, 2003.
3. Wimmer, K.; Zhu, X. X.; Lamb, B. J.; Kuick, R.; Ambros, P. F.;
Kovar, H.; Thoraval, D.; Motyka, S.; Alberts, J. R.; Hanash, S. M.
: Co-amplification of a novel gene, NAG, with the N-myc gene in neuroblastoma. Oncogene 18:
233-238, 1999.
*FIELD* CN
Marla J. F. O'Neill - updated: 09/04/2012
*FIELD* CD
Patricia A. Hartz: 8/8/2003
*FIELD* ED
carol: 09/04/2012
alopez: 8/19/2009
carol: 10/3/2003
mgross: 8/8/2003
MIM
614800
*RECORD*
*FIELD* NO
614800
*FIELD* TI
#614800 SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY; SOPH
*FIELD* TX
read moreA number sign (#) is used with this entry because of evidence that short
stature, optic nerve atrophy, and Pelger-Huet anomaly (SOPH syndrome)
can be caused by homozygous mutation in the NBAS gene (608025) on
chromosome 2p24.
DESCRIPTION
Among the Yakuts, an Asian population isolate that is located in the
northeastern part of Siberia, Maksimova et al. (2010) ascertained a
short stature syndrome involving autosomal recessive postnatal growth
failure, small hands and feet, loss of visual acuity with abnormalities
of color vision, abnormal nuclear shape in neutrophil granulocytes
(Pelger-Huet anomaly; see 169400), and normal intelligence.
CLINICAL FEATURES
In the linguistically and geographically isolated Yakut population of
northeastern Siberia, previously studied for the presence of autosomal
dominant and recessive as well as X-linked recessive genetic diseases
(Nogovitsina et al., 1999; Tarskaya et al., 2003; Tarskaia et al.,
2004), Maksimova et al. (2010) ascertained 34 Yakut patients, 22 female
and 12 male, all of whom had postnatal growth failure, loose and senile
skin with depressed turgor of tissue, micromelia, brachydactyly, and
bilateral optic nerve atrophy with nonprogressive loss of visual acuity,
associated with complete or incomplete achromatopsia (color blindness).
In addition, all of the patients who underwent hematologic examination
(22 patients from 21 families) had a high frequency of hypolobulation of
granulocyte nuclei, characteristic of Pelger-Huet anomaly. Features seen
in at least 28 (82%) of the 34 patients included a brachycephalic skull
with hypoplasia of the frontal and parietal tubers and narrow forehead,
long senile face with small features, small orbits, bilateral
exophthalmos, hypoplastic cheekbones, straight nose with prominent
glabella, long philtrum, thin lips, high voice with harsh timber, short
neck, hypermobility of small joints, muscular hypotonia, and wide feet
with high arch. Other commonly seen features included fine hair, facial
asymmetry, thick and/or bushy eyebrows, epicanthus, sandal gap, and wide
big toes. All but 1 of the patients had normal intellectual function.
Maksimova et al. (2010) designated the phenotype 'SOPH syndrome,' for
short stature, optic atrophy, and Pelger-Huet anomaly.
MAPPING
In 33 Yakut patients with SOPH syndrome, who were known to be negative
for mutation in the CUL7 gene (609577), which can result in Yakut short
stature syndrome (see 273750), Maksimova et al. (2010) performed
genomewide homozygosity mapping followed by fine mapping that narrowed
the critical interval to a 1.1-Mb segment between the dinucleotide
polymorphic markers M1491 and M1599 on chromosome 2p24.3.
MOLECULAR GENETICS
In 33 Yakut patients from 30 families with short stature, optic nerve
atrophy, and Pelger-Huet anomaly (SOPH syndrome) mapping to chromosome
2p24.3, Maksimova et al. (2010) analyzed 2 candidate genes and
identified homozygosity for a missense mutation in the NBAS gene
(R1914H; 608025.0001) that segregated with disease. None of 203 Yakut
controls carried the mutation in homozygous state, and the mutation was
not found in 100 Japanese controls. Because in cases of autosomal
dominantly inherited Pelger-Huet anomaly (169400) caused by mutation in
the LBR gene (600024), the amount of LBR quantitatively affects
lobulation of neutrophilic nuclei, Maksimova et al. (2010) analyzed
neutrophils from a patient with SOPH syndrome and a control, but found
LBR expression to be comparable between the 2 individuals.
*FIELD* RF
1. Maksimova, N.; Hara, K.; Nikolaeva, I.; Chun-Feng, T.; Usui, T.;
Takagi, M.; Nishihira, Y.; Miyashita, A.; Fujiwara, H.; Oyama, T.;
Nogovicina, A.; Sukhomyasova, A.; Potapova, S.; Kuwano, R.; Takashashi,
H.; Nishizawa, M.; Onodera, O.: Neuroblastoma amplified sequence
gene is associated with a novel short stature syndrome characterised
by optic nerve atrophy and Pelger-Huet anomaly. J. Med. Genet. 47:
538-548, 2010.
2. Nogovitsina, A. N.; Maximova, N. R.; Khandy, M. V.; Alexeeva, S.
P.: Monogenic hereditary diseases in families consulted in Medical
Genetic Department of National Center of Medicine of Republic of Sakha
in 1990-1998. Far East. Med. J. 1: 17-21, 1999. Note: Article in
Russian.
3. Tarskaia, L. A.; Zinchenko, R. A.; Elchinova, G. I.; Egorova, A.
G.; Korotov, M. N.; Basova, E. V.; Prokopeva, A. M.; Sivtseva, E.
N.; Nikolaeva, E. E.; Banshchikova, E. S.; Samarkina, M. V.; Sannikova,
A. N.; Danilova, G. I.; Jhelobtsova, A. F.; Danilova, A. P.; Popova,
G. N.: The structure and diversity of hereditary pathology in Sakha
Republic (Yakutia). Genetika 40: 1530-1539, 2004.
4. Tarskaya, L. A.; Zinchenko, R. A.; Elchinova, G. I.; Egorova, A.
G.; Korotov, M. N.; Basova, E. V.; Prokopeva, A. M.; Sivtseva, E.
N.; Nikolaeva, E. E.; Banshchikova, E. S.; Samarkina, M. V.; Sannikova,
A. N.; Danilova, G. I.; Jhelobtsova, A. F.; Danilova, A. P.; Popova,
G. N.: The load of hereditary diseases in the population of Republic
of Sakha (Yakutia). Genetika 39: 1719-1722, 2003.
*FIELD* CS
INHERITANCE:
Autosomal recessive
GROWTH:
[Height];
Postnatal growth failure
HEAD AND NECK:
[Head];
Brachycephaly;
[Face];
Long face;
Senile-appearing face;
Narrow forehead;
Prominent glabella;
Hypoplastic cheekbones;
Small facial features;
Facial asymmetry;
Long philtrum;
[Eyes];
Thick eyebrows;
Bushy eyebrows;
Small orbits;
Exophthalmos, bilateral;
Epicanthus;
Optic nerve atrophy, bilateral;
Decreased visual acuity, nonprogressive;
Achromatopsia, complete or incomplete;
Myopia (in some patients);
Strabismus (in some patients);
Hypertelorism (in some patients);
Hypermetropia (rare);
Pigmented nevus (rare);
[Nose];
Straight nose;
[Mouth];
Thin lips;
[Neck];
Short neck
GENITOURINARY:
[Internal genitalia, female];
Uterine hypoplasia (in some patients)
SKELETAL:
Delayed bone age (in some patients);
[Skull];
Brachycephaly;
Hypoplasia of frontal tubers;
Hypoplasia of parietal tubers;
[Limbs];
Micromelia;
[Hands];
Brachydactyly;
Hypermobility of small joints;
Simian crease (in some patients);
Syndactyly (rare);
[Feet];
Brachydactyly;
Hypermobility of small joints;
Wide feet;
High arch;
Sandal gap;
Wide hallux
SKIN, NAILS, HAIR:
[Skin];
Loose skin;
Decreased turgor of skin;
[Hair];
Fine hair
MUSCLE, SOFT TISSUE:
Muscular hypotonia
NEUROLOGIC:
[Central nervous system];
Normal intellectual function
VOICE:
High voice with harsh timber
HEMATOLOGY:
Hypolobulation of granulocyte nuclei (Pelger-Huet anomaly)
MOLECULAR BASIS:
Caused by mutation in the neuroblastoma-amplified sequence gene (NBAS,
608025.0001)
*FIELD* CD
Marla J. F. O'Neill: 9/5/2012
*FIELD* ED
joanna: 09/05/2012
*FIELD* CD
Marla J. F. O'Neill: 9/4/2012
*FIELD* ED
carol: 09/04/2012
*RECORD*
*FIELD* NO
614800
*FIELD* TI
#614800 SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY; SOPH
*FIELD* TX
read moreA number sign (#) is used with this entry because of evidence that short
stature, optic nerve atrophy, and Pelger-Huet anomaly (SOPH syndrome)
can be caused by homozygous mutation in the NBAS gene (608025) on
chromosome 2p24.
DESCRIPTION
Among the Yakuts, an Asian population isolate that is located in the
northeastern part of Siberia, Maksimova et al. (2010) ascertained a
short stature syndrome involving autosomal recessive postnatal growth
failure, small hands and feet, loss of visual acuity with abnormalities
of color vision, abnormal nuclear shape in neutrophil granulocytes
(Pelger-Huet anomaly; see 169400), and normal intelligence.
CLINICAL FEATURES
In the linguistically and geographically isolated Yakut population of
northeastern Siberia, previously studied for the presence of autosomal
dominant and recessive as well as X-linked recessive genetic diseases
(Nogovitsina et al., 1999; Tarskaya et al., 2003; Tarskaia et al.,
2004), Maksimova et al. (2010) ascertained 34 Yakut patients, 22 female
and 12 male, all of whom had postnatal growth failure, loose and senile
skin with depressed turgor of tissue, micromelia, brachydactyly, and
bilateral optic nerve atrophy with nonprogressive loss of visual acuity,
associated with complete or incomplete achromatopsia (color blindness).
In addition, all of the patients who underwent hematologic examination
(22 patients from 21 families) had a high frequency of hypolobulation of
granulocyte nuclei, characteristic of Pelger-Huet anomaly. Features seen
in at least 28 (82%) of the 34 patients included a brachycephalic skull
with hypoplasia of the frontal and parietal tubers and narrow forehead,
long senile face with small features, small orbits, bilateral
exophthalmos, hypoplastic cheekbones, straight nose with prominent
glabella, long philtrum, thin lips, high voice with harsh timber, short
neck, hypermobility of small joints, muscular hypotonia, and wide feet
with high arch. Other commonly seen features included fine hair, facial
asymmetry, thick and/or bushy eyebrows, epicanthus, sandal gap, and wide
big toes. All but 1 of the patients had normal intellectual function.
Maksimova et al. (2010) designated the phenotype 'SOPH syndrome,' for
short stature, optic atrophy, and Pelger-Huet anomaly.
MAPPING
In 33 Yakut patients with SOPH syndrome, who were known to be negative
for mutation in the CUL7 gene (609577), which can result in Yakut short
stature syndrome (see 273750), Maksimova et al. (2010) performed
genomewide homozygosity mapping followed by fine mapping that narrowed
the critical interval to a 1.1-Mb segment between the dinucleotide
polymorphic markers M1491 and M1599 on chromosome 2p24.3.
MOLECULAR GENETICS
In 33 Yakut patients from 30 families with short stature, optic nerve
atrophy, and Pelger-Huet anomaly (SOPH syndrome) mapping to chromosome
2p24.3, Maksimova et al. (2010) analyzed 2 candidate genes and
identified homozygosity for a missense mutation in the NBAS gene
(R1914H; 608025.0001) that segregated with disease. None of 203 Yakut
controls carried the mutation in homozygous state, and the mutation was
not found in 100 Japanese controls. Because in cases of autosomal
dominantly inherited Pelger-Huet anomaly (169400) caused by mutation in
the LBR gene (600024), the amount of LBR quantitatively affects
lobulation of neutrophilic nuclei, Maksimova et al. (2010) analyzed
neutrophils from a patient with SOPH syndrome and a control, but found
LBR expression to be comparable between the 2 individuals.
*FIELD* RF
1. Maksimova, N.; Hara, K.; Nikolaeva, I.; Chun-Feng, T.; Usui, T.;
Takagi, M.; Nishihira, Y.; Miyashita, A.; Fujiwara, H.; Oyama, T.;
Nogovicina, A.; Sukhomyasova, A.; Potapova, S.; Kuwano, R.; Takashashi,
H.; Nishizawa, M.; Onodera, O.: Neuroblastoma amplified sequence
gene is associated with a novel short stature syndrome characterised
by optic nerve atrophy and Pelger-Huet anomaly. J. Med. Genet. 47:
538-548, 2010.
2. Nogovitsina, A. N.; Maximova, N. R.; Khandy, M. V.; Alexeeva, S.
P.: Monogenic hereditary diseases in families consulted in Medical
Genetic Department of National Center of Medicine of Republic of Sakha
in 1990-1998. Far East. Med. J. 1: 17-21, 1999. Note: Article in
Russian.
3. Tarskaia, L. A.; Zinchenko, R. A.; Elchinova, G. I.; Egorova, A.
G.; Korotov, M. N.; Basova, E. V.; Prokopeva, A. M.; Sivtseva, E.
N.; Nikolaeva, E. E.; Banshchikova, E. S.; Samarkina, M. V.; Sannikova,
A. N.; Danilova, G. I.; Jhelobtsova, A. F.; Danilova, A. P.; Popova,
G. N.: The structure and diversity of hereditary pathology in Sakha
Republic (Yakutia). Genetika 40: 1530-1539, 2004.
4. Tarskaya, L. A.; Zinchenko, R. A.; Elchinova, G. I.; Egorova, A.
G.; Korotov, M. N.; Basova, E. V.; Prokopeva, A. M.; Sivtseva, E.
N.; Nikolaeva, E. E.; Banshchikova, E. S.; Samarkina, M. V.; Sannikova,
A. N.; Danilova, G. I.; Jhelobtsova, A. F.; Danilova, A. P.; Popova,
G. N.: The load of hereditary diseases in the population of Republic
of Sakha (Yakutia). Genetika 39: 1719-1722, 2003.
*FIELD* CS
INHERITANCE:
Autosomal recessive
GROWTH:
[Height];
Postnatal growth failure
HEAD AND NECK:
[Head];
Brachycephaly;
[Face];
Long face;
Senile-appearing face;
Narrow forehead;
Prominent glabella;
Hypoplastic cheekbones;
Small facial features;
Facial asymmetry;
Long philtrum;
[Eyes];
Thick eyebrows;
Bushy eyebrows;
Small orbits;
Exophthalmos, bilateral;
Epicanthus;
Optic nerve atrophy, bilateral;
Decreased visual acuity, nonprogressive;
Achromatopsia, complete or incomplete;
Myopia (in some patients);
Strabismus (in some patients);
Hypertelorism (in some patients);
Hypermetropia (rare);
Pigmented nevus (rare);
[Nose];
Straight nose;
[Mouth];
Thin lips;
[Neck];
Short neck
GENITOURINARY:
[Internal genitalia, female];
Uterine hypoplasia (in some patients)
SKELETAL:
Delayed bone age (in some patients);
[Skull];
Brachycephaly;
Hypoplasia of frontal tubers;
Hypoplasia of parietal tubers;
[Limbs];
Micromelia;
[Hands];
Brachydactyly;
Hypermobility of small joints;
Simian crease (in some patients);
Syndactyly (rare);
[Feet];
Brachydactyly;
Hypermobility of small joints;
Wide feet;
High arch;
Sandal gap;
Wide hallux
SKIN, NAILS, HAIR:
[Skin];
Loose skin;
Decreased turgor of skin;
[Hair];
Fine hair
MUSCLE, SOFT TISSUE:
Muscular hypotonia
NEUROLOGIC:
[Central nervous system];
Normal intellectual function
VOICE:
High voice with harsh timber
HEMATOLOGY:
Hypolobulation of granulocyte nuclei (Pelger-Huet anomaly)
MOLECULAR BASIS:
Caused by mutation in the neuroblastoma-amplified sequence gene (NBAS,
608025.0001)
*FIELD* CD
Marla J. F. O'Neill: 9/5/2012
*FIELD* ED
joanna: 09/05/2012
*FIELD* CD
Marla J. F. O'Neill: 9/4/2012
*FIELD* ED
carol: 09/04/2012