Full text data of NUTM1
NUTM1
(C15orf55, NUT)
[Confidence: low (only semi-automatic identification from reviews)]
NUT family member 1 (Nuclear protein in testis)
Note: presumably soluble (membrane word is not in UniProt keywords or features)
NUT family member 1 (Nuclear protein in testis)
Note: presumably soluble (membrane word is not in UniProt keywords or features)
UniProt
Q86Y26
ID NUTM1_HUMAN Reviewed; 1132 AA.
AC Q86Y26; Q86YS8; Q8N7F2; Q9NTB3;
DT 13-NOV-2007, integrated into UniProtKB/Swiss-Prot.
read moreDT 02-NOV-2010, sequence version 2.
DT 22-JAN-2014, entry version 71.
DE RecName: Full=NUT family member 1;
DE AltName: Full=Nuclear protein in testis;
GN Name=NUTM1; Synonyms=C15orf55, NUT;
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), DISEASE, CHROMOSOMAL
RP TRANSLOCATION WITH BRD4, TISSUE SPECIFICITY, AND VARIANT LEU-22.
RC TISSUE=Carcinoma, and Testis;
RX PubMed=12543779;
RA French C.A., Miyoshi I., Kubonishi I., Grier H.E., Perez-Atayde A.R.,
RA Fletcher J.A.;
RT "BRD4-NUT fusion oncogene: a novel mechanism in aggressive
RT carcinoma.";
RL Cancer Res. 63:304-307(2003).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), AND VARIANT
RP LEU-22.
RC TISSUE=Testis;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A.,
RA Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
RA Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
RA Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
RA Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
RA Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
RA Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
RA Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
RA Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
RA Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
RA Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y.,
RA Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
RA Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
RA Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
RA Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
RA Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
RA Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
RA Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
RA Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
RA Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], AND VARIANT LEU-22.
RX PubMed=16572171; DOI=10.1038/nature04601;
RA Zody M.C., Garber M., Sharpe T., Young S.K., Rowen L., O'Neill K.,
RA Whittaker C.A., Kamal M., Chang J.L., Cuomo C.A., Dewar K.,
RA FitzGerald M.G., Kodira C.D., Madan A., Qin S., Yang X., Abbasi N.,
RA Abouelleil A., Arachchi H.M., Baradarani L., Birditt B., Bloom S.,
RA Bloom T., Borowsky M.L., Burke J., Butler J., Cook A., DeArellano K.,
RA DeCaprio D., Dorris L. III, Dors M., Eichler E.E., Engels R.,
RA Fahey J., Fleetwood P., Friedman C., Gearin G., Hall J.L., Hensley G.,
RA Johnson E., Jones C., Kamat A., Kaur A., Locke D.P., Madan A.,
RA Munson G., Jaffe D.B., Lui A., Macdonald P., Mauceli E., Naylor J.W.,
RA Nesbitt R., Nicol R., O'Leary S.B., Ratcliffe A., Rounsley S., She X.,
RA Sneddon K.M.B., Stewart S., Sougnez C., Stone S.M., Topham K.,
RA Vincent D., Wang S., Zimmer A.R., Birren B.W., Hood L., Lander E.S.,
RA Nusbaum C.;
RT "Analysis of the DNA sequence and duplication history of human
RT chromosome 15.";
RL Nature 440:671-675(2006).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L.,
RA Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
RA Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
RA Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
RA Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
RA Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
RA Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
RA Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANT
RP LEU-22.
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 [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 890-1132 (ISOFORM 1).
RC TISSUE=Testis;
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 [7]
RP CHROMOSOMAL TRANSLOCATION WITH BRD3, SUBCELLULAR LOCATION, AND
RP PHOSPHORYLATION AT SER-1026; SER-1029 AND SER-1031.
RX PubMed=17934517; DOI=10.1038/sj.onc.1210852;
RA French C.A., Ramirez C.L., Kolmakova J., Hickman T.T., Cameron M.J.,
RA Thyne M.E., Kutok J.L., Toretsky J.A., Tadavarthy A.K., Kees U.R.,
RA Fletcher J.A., Aster J.C.;
RT "BRD-NUT oncoproteins: a family of closely related nuclear proteins
RT that block epithelial differentiation and maintain the growth of
RT carcinoma cells.";
RL Oncogene 27:2237-2242(2008).
CC -!- SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Note=Shuttles between
CC nucleus and cytoplasm.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q86Y26-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q86Y26-2; Sequence=VSP_029559, VSP_029560, VSP_029561;
CC -!- TISSUE SPECIFICITY: Specifically expressed in testis.
CC -!- PTM: Phosphorylation on Ser-1026, Ser-1029 or Ser-1031 is
CC important for cytoplasmic export.
CC -!- DISEASE: Note=A chromosomal aberration involving NUT is found in a
CC rare, aggressive, and lethal carcinoma arising in midline organs
CC of young people. Translocation t(15;19)(q14;p13) with BRD4 which
CC produces a BRD4-NUT fusion protein.
CC -!- DISEASE: Note=A chromosomal aberration involving NUT is found in a
CC rare, aggressive, and lethal carcinoma arising in midline organs
CC of young people. Translocation t(15;9)(q14;q34) with BRD3 which
CC produces a BRD3-NUT fusion protein.
CC -!- SIMILARITY: Belongs to the NUT family.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAO22237.1; Type=Erroneous initiation;
CC -!- WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology
CC and Haematology;
CC URL="http://atlasgeneticsoncology.org/Genes/NUTID41595ch15q14.html";
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DR EMBL; AF482429; AAO39268.1; -; mRNA.
DR EMBL; AY166680; AAO22237.1; ALT_INIT; mRNA.
DR EMBL; AK098568; BAC05337.1; -; mRNA.
DR EMBL; AC021822; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC025678; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471125; EAW92304.1; -; Genomic_DNA.
DR EMBL; BC114518; AAI14519.1; -; mRNA.
DR EMBL; BC114567; AAI14568.1; -; mRNA.
DR EMBL; AL137416; CAB70729.1; -; mRNA.
DR PIR; T46461; T46461.
DR RefSeq; NP_001271222.1; NM_001284293.1.
DR RefSeq; NP_786883.1; NM_175741.2.
DR UniGene; Hs.525769; -.
DR ProteinModelPortal; Q86Y26; -.
DR STRING; 9606.ENSP00000329448; -.
DR PhosphoSite; Q86Y26; -.
DR DMDM; 311033405; -.
DR PaxDb; Q86Y26; -.
DR PRIDE; Q86Y26; -.
DR Ensembl; ENST00000333756; ENSP00000329448; ENSG00000184507.
DR GeneID; 256646; -.
DR KEGG; hsa:256646; -.
DR CTD; 256646; -.
DR GeneCards; GC15P034636; -.
DR HGNC; HGNC:29919; NUTM1.
DR HPA; HPA040421; -.
DR MIM; 608963; gene.
DR neXtProt; NX_Q86Y26; -.
DR PharmGKB; PA162378206; -.
DR eggNOG; NOG39838; -.
DR HOVERGEN; HBG107898; -.
DR InParanoid; Q86Y26; -.
DR PhylomeDB; Q86Y26; -.
DR GenomeRNAi; 256646; -.
DR NextBio; 92844; -.
DR PRO; PR:Q86Y26; -.
DR ArrayExpress; Q86Y26; -.
DR Bgee; Q86Y26; -.
DR CleanEx; HS_C15orf55; -.
DR Genevestigator; Q86Y26; -.
DR GO; GO:0005737; C:cytoplasm; IEA:UniProtKB-SubCell.
DR GO; GO:0005634; C:nucleus; IEA:UniProtKB-SubCell.
DR InterPro; IPR024310; NUT/FAM22.
DR InterPro; IPR024313; NUT_C.
DR InterPro; IPR024309; NUT_N.
DR PANTHER; PTHR22879; PTHR22879; 1.
DR Pfam; PF12882; NUT_C; 1.
DR Pfam; PF12881; NUT_N; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Chromosomal rearrangement; Complete proteome;
KW Cytoplasm; Nucleus; Phosphoprotein; Polymorphism; Reference proteome.
FT CHAIN 1 1132 NUT family member 1.
FT /FTId=PRO_0000311394.
FT COMPBIAS 10 182 Pro-rich.
FT SITE 5 6 Breakpoint for translocation to form
FT BRD4-NUT and BRD3-NUT fusion proteins.
FT MOD_RES 1026 1026 Phosphoserine (Probable).
FT MOD_RES 1029 1029 Phosphoserine (Probable).
FT MOD_RES 1031 1031 Phosphoserine (Probable).
FT VAR_SEQ 235 365 Missing (in isoform 2).
FT /FTId=VSP_029559.
FT VAR_SEQ 565 573 LQPELAAPQ -> PPTNGESQC (in isoform 2).
FT /FTId=VSP_029560.
FT VAR_SEQ 574 1132 Missing (in isoform 2).
FT /FTId=VSP_029561.
FT VARIANT 22 22 P -> L (in dbSNP:rs374230).
FT /FTId=VAR_037239.
FT VARIANT 781 781 T -> M (in dbSNP:rs16959028).
FT /FTId=VAR_037240.
FT VARIANT 785 785 V -> E (in dbSNP:rs17236868).
FT /FTId=VAR_037241.
FT VARIANT 973 973 T -> N (in dbSNP:rs2279683).
FT /FTId=VAR_037242.
FT VARIANT 985 985 P -> R (in dbSNP:rs2279684).
FT /FTId=VAR_037243.
FT VARIANT 1113 1113 R -> H (in dbSNP:rs2279685).
FT /FTId=VAR_037244.
SQ SEQUENCE 1132 AA; 120314 MW; 5CB58C1B030399F4 CRC64;
MASDGASALP GPDMSMKPSA APSPSPALPF LPPTSDPPDH PPREPPPQPI MPSVFSPDNP
LMLSAFPSSL LVTGDGGPCL SGAGAGKVIV KVKTEGGSAE PSQTQNFILT QTALNSTAPG
TPCGGLEGPA PPFVTASNVK TILPSKAVGV SQEGPPGLPP QPPPPVAQLV PIVPLEKAWP
GPHGTTGEGG PVATLSKPSL GDRSKISKDV YENFRQWQRY KALARRHLSQ SPDTEALSCF
LIPVLRSLAR LKPTMTLEEG LPLAVQEWEH TSNFDRMIFY EMAERFMEFE AEEMQIQNTQ
LMNGSQGLSP ATPLKLDPLG PLASEVCQQP VYIPKKAASK TRAPRRRQRK AQRPPAPEAP
KEIPPEAVKE YVDIMEWLVG THLATGESDG KQEEEGQQQE EEGMYPDPGL LSYINELCSQ
KVFVSKVEAV IHPQFLADLL SPEKQRDPLA LIEELEQEEG LTLAQLVQKR LMALEEEEDA
EAPPSFSGAQ LDSSPSGSVE DEDGDGRLRP SPGLQGAGGA ACLGKVSSSG KRAREVHGGQ
EQALDSPRGM HRDGNTLPSP SSWDLQPELA APQGTPGPLG VERRGSGKVI NQVSLHQDGH
LGGAGPPGHC LVADRTSEAL PLCWQGGFQP ESTPSLDAGL AELAPLQGQG LEKQVLGLQK
GQQTGGRGVL PQGKEPLAVP WEGSSGAMWG DDRGTPMAQS YDQNPSPRAA GERDDVCLSP
GVWLSSEMDA VGLELPVQIE EVIESFQVEK CVTEYQEGCQ GLGSRGNISL GPGETLVPGD
TESSVIPCGG TVAAAALEKR NYCSLPGPLR ANSPPLRSKE NQEQSCETVG HPSDLWAEGC
FPLLESGDST LGSSKETLPP TCQGNLLIMG TEDASSLPEA SQEAGSRGNS FSPLLETIEP
VNILDVKDDC GLQLRVSEDT CPLNVHSYDP QGEGRVDPDL SKPKNLAPLQ ESQESYTTGT
PKATSSHQGL GSTLPRRGTR NAIVPRETSV SKTHRSADRA KGKEKKKKEA EEEDEELSNF
AYLLASKLSL SPREHPLSPH HASGGQGSQR ASHLLPAGAK GPSKLPYPVA KSGKRALAGG
PAPTEKTPHS GAQLGVPREK PLALGVVRPS QPRKRRCDSF VTGRRKKRRR SQ
//
ID NUTM1_HUMAN Reviewed; 1132 AA.
AC Q86Y26; Q86YS8; Q8N7F2; Q9NTB3;
DT 13-NOV-2007, integrated into UniProtKB/Swiss-Prot.
read moreDT 02-NOV-2010, sequence version 2.
DT 22-JAN-2014, entry version 71.
DE RecName: Full=NUT family member 1;
DE AltName: Full=Nuclear protein in testis;
GN Name=NUTM1; Synonyms=C15orf55, NUT;
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), DISEASE, CHROMOSOMAL
RP TRANSLOCATION WITH BRD4, TISSUE SPECIFICITY, AND VARIANT LEU-22.
RC TISSUE=Carcinoma, and Testis;
RX PubMed=12543779;
RA French C.A., Miyoshi I., Kubonishi I., Grier H.E., Perez-Atayde A.R.,
RA Fletcher J.A.;
RT "BRD4-NUT fusion oncogene: a novel mechanism in aggressive
RT carcinoma.";
RL Cancer Res. 63:304-307(2003).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), AND VARIANT
RP LEU-22.
RC TISSUE=Testis;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A.,
RA Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
RA Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
RA Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
RA Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
RA Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
RA Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
RA Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
RA Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
RA Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
RA Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y.,
RA Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
RA Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
RA Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
RA Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
RA Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
RA Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
RA Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
RA Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
RA Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], AND VARIANT LEU-22.
RX PubMed=16572171; DOI=10.1038/nature04601;
RA Zody M.C., Garber M., Sharpe T., Young S.K., Rowen L., O'Neill K.,
RA Whittaker C.A., Kamal M., Chang J.L., Cuomo C.A., Dewar K.,
RA FitzGerald M.G., Kodira C.D., Madan A., Qin S., Yang X., Abbasi N.,
RA Abouelleil A., Arachchi H.M., Baradarani L., Birditt B., Bloom S.,
RA Bloom T., Borowsky M.L., Burke J., Butler J., Cook A., DeArellano K.,
RA DeCaprio D., Dorris L. III, Dors M., Eichler E.E., Engels R.,
RA Fahey J., Fleetwood P., Friedman C., Gearin G., Hall J.L., Hensley G.,
RA Johnson E., Jones C., Kamat A., Kaur A., Locke D.P., Madan A.,
RA Munson G., Jaffe D.B., Lui A., Macdonald P., Mauceli E., Naylor J.W.,
RA Nesbitt R., Nicol R., O'Leary S.B., Ratcliffe A., Rounsley S., She X.,
RA Sneddon K.M.B., Stewart S., Sougnez C., Stone S.M., Topham K.,
RA Vincent D., Wang S., Zimmer A.R., Birren B.W., Hood L., Lander E.S.,
RA Nusbaum C.;
RT "Analysis of the DNA sequence and duplication history of human
RT chromosome 15.";
RL Nature 440:671-675(2006).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L.,
RA Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
RA Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
RA Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
RA Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
RA Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
RA Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
RA Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANT
RP LEU-22.
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 [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 890-1132 (ISOFORM 1).
RC TISSUE=Testis;
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 [7]
RP CHROMOSOMAL TRANSLOCATION WITH BRD3, SUBCELLULAR LOCATION, AND
RP PHOSPHORYLATION AT SER-1026; SER-1029 AND SER-1031.
RX PubMed=17934517; DOI=10.1038/sj.onc.1210852;
RA French C.A., Ramirez C.L., Kolmakova J., Hickman T.T., Cameron M.J.,
RA Thyne M.E., Kutok J.L., Toretsky J.A., Tadavarthy A.K., Kees U.R.,
RA Fletcher J.A., Aster J.C.;
RT "BRD-NUT oncoproteins: a family of closely related nuclear proteins
RT that block epithelial differentiation and maintain the growth of
RT carcinoma cells.";
RL Oncogene 27:2237-2242(2008).
CC -!- SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Note=Shuttles between
CC nucleus and cytoplasm.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q86Y26-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q86Y26-2; Sequence=VSP_029559, VSP_029560, VSP_029561;
CC -!- TISSUE SPECIFICITY: Specifically expressed in testis.
CC -!- PTM: Phosphorylation on Ser-1026, Ser-1029 or Ser-1031 is
CC important for cytoplasmic export.
CC -!- DISEASE: Note=A chromosomal aberration involving NUT is found in a
CC rare, aggressive, and lethal carcinoma arising in midline organs
CC of young people. Translocation t(15;19)(q14;p13) with BRD4 which
CC produces a BRD4-NUT fusion protein.
CC -!- DISEASE: Note=A chromosomal aberration involving NUT is found in a
CC rare, aggressive, and lethal carcinoma arising in midline organs
CC of young people. Translocation t(15;9)(q14;q34) with BRD3 which
CC produces a BRD3-NUT fusion protein.
CC -!- SIMILARITY: Belongs to the NUT family.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAO22237.1; Type=Erroneous initiation;
CC -!- WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology
CC and Haematology;
CC URL="http://atlasgeneticsoncology.org/Genes/NUTID41595ch15q14.html";
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DR EMBL; AF482429; AAO39268.1; -; mRNA.
DR EMBL; AY166680; AAO22237.1; ALT_INIT; mRNA.
DR EMBL; AK098568; BAC05337.1; -; mRNA.
DR EMBL; AC021822; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC025678; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471125; EAW92304.1; -; Genomic_DNA.
DR EMBL; BC114518; AAI14519.1; -; mRNA.
DR EMBL; BC114567; AAI14568.1; -; mRNA.
DR EMBL; AL137416; CAB70729.1; -; mRNA.
DR PIR; T46461; T46461.
DR RefSeq; NP_001271222.1; NM_001284293.1.
DR RefSeq; NP_786883.1; NM_175741.2.
DR UniGene; Hs.525769; -.
DR ProteinModelPortal; Q86Y26; -.
DR STRING; 9606.ENSP00000329448; -.
DR PhosphoSite; Q86Y26; -.
DR DMDM; 311033405; -.
DR PaxDb; Q86Y26; -.
DR PRIDE; Q86Y26; -.
DR Ensembl; ENST00000333756; ENSP00000329448; ENSG00000184507.
DR GeneID; 256646; -.
DR KEGG; hsa:256646; -.
DR CTD; 256646; -.
DR GeneCards; GC15P034636; -.
DR HGNC; HGNC:29919; NUTM1.
DR HPA; HPA040421; -.
DR MIM; 608963; gene.
DR neXtProt; NX_Q86Y26; -.
DR PharmGKB; PA162378206; -.
DR eggNOG; NOG39838; -.
DR HOVERGEN; HBG107898; -.
DR InParanoid; Q86Y26; -.
DR PhylomeDB; Q86Y26; -.
DR GenomeRNAi; 256646; -.
DR NextBio; 92844; -.
DR PRO; PR:Q86Y26; -.
DR ArrayExpress; Q86Y26; -.
DR Bgee; Q86Y26; -.
DR CleanEx; HS_C15orf55; -.
DR Genevestigator; Q86Y26; -.
DR GO; GO:0005737; C:cytoplasm; IEA:UniProtKB-SubCell.
DR GO; GO:0005634; C:nucleus; IEA:UniProtKB-SubCell.
DR InterPro; IPR024310; NUT/FAM22.
DR InterPro; IPR024313; NUT_C.
DR InterPro; IPR024309; NUT_N.
DR PANTHER; PTHR22879; PTHR22879; 1.
DR Pfam; PF12882; NUT_C; 1.
DR Pfam; PF12881; NUT_N; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Chromosomal rearrangement; Complete proteome;
KW Cytoplasm; Nucleus; Phosphoprotein; Polymorphism; Reference proteome.
FT CHAIN 1 1132 NUT family member 1.
FT /FTId=PRO_0000311394.
FT COMPBIAS 10 182 Pro-rich.
FT SITE 5 6 Breakpoint for translocation to form
FT BRD4-NUT and BRD3-NUT fusion proteins.
FT MOD_RES 1026 1026 Phosphoserine (Probable).
FT MOD_RES 1029 1029 Phosphoserine (Probable).
FT MOD_RES 1031 1031 Phosphoserine (Probable).
FT VAR_SEQ 235 365 Missing (in isoform 2).
FT /FTId=VSP_029559.
FT VAR_SEQ 565 573 LQPELAAPQ -> PPTNGESQC (in isoform 2).
FT /FTId=VSP_029560.
FT VAR_SEQ 574 1132 Missing (in isoform 2).
FT /FTId=VSP_029561.
FT VARIANT 22 22 P -> L (in dbSNP:rs374230).
FT /FTId=VAR_037239.
FT VARIANT 781 781 T -> M (in dbSNP:rs16959028).
FT /FTId=VAR_037240.
FT VARIANT 785 785 V -> E (in dbSNP:rs17236868).
FT /FTId=VAR_037241.
FT VARIANT 973 973 T -> N (in dbSNP:rs2279683).
FT /FTId=VAR_037242.
FT VARIANT 985 985 P -> R (in dbSNP:rs2279684).
FT /FTId=VAR_037243.
FT VARIANT 1113 1113 R -> H (in dbSNP:rs2279685).
FT /FTId=VAR_037244.
SQ SEQUENCE 1132 AA; 120314 MW; 5CB58C1B030399F4 CRC64;
MASDGASALP GPDMSMKPSA APSPSPALPF LPPTSDPPDH PPREPPPQPI MPSVFSPDNP
LMLSAFPSSL LVTGDGGPCL SGAGAGKVIV KVKTEGGSAE PSQTQNFILT QTALNSTAPG
TPCGGLEGPA PPFVTASNVK TILPSKAVGV SQEGPPGLPP QPPPPVAQLV PIVPLEKAWP
GPHGTTGEGG PVATLSKPSL GDRSKISKDV YENFRQWQRY KALARRHLSQ SPDTEALSCF
LIPVLRSLAR LKPTMTLEEG LPLAVQEWEH TSNFDRMIFY EMAERFMEFE AEEMQIQNTQ
LMNGSQGLSP ATPLKLDPLG PLASEVCQQP VYIPKKAASK TRAPRRRQRK AQRPPAPEAP
KEIPPEAVKE YVDIMEWLVG THLATGESDG KQEEEGQQQE EEGMYPDPGL LSYINELCSQ
KVFVSKVEAV IHPQFLADLL SPEKQRDPLA LIEELEQEEG LTLAQLVQKR LMALEEEEDA
EAPPSFSGAQ LDSSPSGSVE DEDGDGRLRP SPGLQGAGGA ACLGKVSSSG KRAREVHGGQ
EQALDSPRGM HRDGNTLPSP SSWDLQPELA APQGTPGPLG VERRGSGKVI NQVSLHQDGH
LGGAGPPGHC LVADRTSEAL PLCWQGGFQP ESTPSLDAGL AELAPLQGQG LEKQVLGLQK
GQQTGGRGVL PQGKEPLAVP WEGSSGAMWG DDRGTPMAQS YDQNPSPRAA GERDDVCLSP
GVWLSSEMDA VGLELPVQIE EVIESFQVEK CVTEYQEGCQ GLGSRGNISL GPGETLVPGD
TESSVIPCGG TVAAAALEKR NYCSLPGPLR ANSPPLRSKE NQEQSCETVG HPSDLWAEGC
FPLLESGDST LGSSKETLPP TCQGNLLIMG TEDASSLPEA SQEAGSRGNS FSPLLETIEP
VNILDVKDDC GLQLRVSEDT CPLNVHSYDP QGEGRVDPDL SKPKNLAPLQ ESQESYTTGT
PKATSSHQGL GSTLPRRGTR NAIVPRETSV SKTHRSADRA KGKEKKKKEA EEEDEELSNF
AYLLASKLSL SPREHPLSPH HASGGQGSQR ASHLLPAGAK GPSKLPYPVA KSGKRALAGG
PAPTEKTPHS GAQLGVPREK PLALGVVRPS QPRKRRCDSF VTGRRKKRRR SQ
//
MIM
608963
*RECORD*
*FIELD* NO
608963
*FIELD* TI
*608963 NUCLEAR PROTEIN IN TESTIS
;;NUT
NUT/BRD4 FUSION GENE, INCLUDED
*FIELD* TX
read moreCLONING
By analyzing the region of chromosome 15 involved in a t(15;19)
translocation, followed by EST database analysis and RT-PCR, French et
al. (2003) cloned NUT. The deduced 1,127-amino acid protein has a
calculated molecular mass of about 120 kD. Northern blot analysis of
several normal human tissues detected a 3.6-kb transcript only in
testis.
GENE STRUCTURE
French et al. (2003) determined that the NUT gene contains 7 exons.
MAPPING
By genomic sequence analysis, French et al. (2003) mapped the NUT gene
to chromosome 15q13.
CYTOGENETICS
The translocation t(15;19)(q13;p13.1) results in a rare, aggressive, and
lethal carcinoma arising in midline organs of young people. By sequence
analysis of the translocation in 2 affected tumors, French et al. (2003)
determined that the translocations were identical and resulted in the
in-frame fusion of exon 10 of BRD4 (608749) with exon 2 of NUT. The
oncogenic fusion protein contains the N-terminal sequence of BRD4,
including 2 bromodomains, 2 nuclear localization signals (NLS), an ET
domain, and a serine-rich region, followed by almost the entire NUT
sequence, including a C-terminal NLS. The fusion protein lacks only the
first 5 NUT residues. Northern blot analysis detected a 6.4-kb fusion
transcript in a t(15;19)-positive carcinoma cell line. No NUT/BRD4
transcripts were detected.
*FIELD* RF
1. French, C. A.; Miyoshi, I.; Kubonishi, I.; Grier, H. E.; Perez-Atayde,
A. R.; Fletcher, J. A.: BRD4-NUT fusion oncogene: a novel mechanism
in aggressive carcinoma. Cancer Res. 63: 304-307, 2003.
*FIELD* CD
Patricia A. Hartz: 10/7/2004
*FIELD* ED
mgross: 10/07/2004
*RECORD*
*FIELD* NO
608963
*FIELD* TI
*608963 NUCLEAR PROTEIN IN TESTIS
;;NUT
NUT/BRD4 FUSION GENE, INCLUDED
*FIELD* TX
read moreCLONING
By analyzing the region of chromosome 15 involved in a t(15;19)
translocation, followed by EST database analysis and RT-PCR, French et
al. (2003) cloned NUT. The deduced 1,127-amino acid protein has a
calculated molecular mass of about 120 kD. Northern blot analysis of
several normal human tissues detected a 3.6-kb transcript only in
testis.
GENE STRUCTURE
French et al. (2003) determined that the NUT gene contains 7 exons.
MAPPING
By genomic sequence analysis, French et al. (2003) mapped the NUT gene
to chromosome 15q13.
CYTOGENETICS
The translocation t(15;19)(q13;p13.1) results in a rare, aggressive, and
lethal carcinoma arising in midline organs of young people. By sequence
analysis of the translocation in 2 affected tumors, French et al. (2003)
determined that the translocations were identical and resulted in the
in-frame fusion of exon 10 of BRD4 (608749) with exon 2 of NUT. The
oncogenic fusion protein contains the N-terminal sequence of BRD4,
including 2 bromodomains, 2 nuclear localization signals (NLS), an ET
domain, and a serine-rich region, followed by almost the entire NUT
sequence, including a C-terminal NLS. The fusion protein lacks only the
first 5 NUT residues. Northern blot analysis detected a 6.4-kb fusion
transcript in a t(15;19)-positive carcinoma cell line. No NUT/BRD4
transcripts were detected.
*FIELD* RF
1. French, C. A.; Miyoshi, I.; Kubonishi, I.; Grier, H. E.; Perez-Atayde,
A. R.; Fletcher, J. A.: BRD4-NUT fusion oncogene: a novel mechanism
in aggressive carcinoma. Cancer Res. 63: 304-307, 2003.
*FIELD* CD
Patricia A. Hartz: 10/7/2004
*FIELD* ED
mgross: 10/07/2004