Full text data of NIF3L1
NIF3L1
(ALS2CR1)
[Confidence: low (only semi-automatic identification from reviews)]
Putative GTP cyclohydrolase 1 type 2 NIF3L1; 3.5.4.16 (Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 1 protein; GTP cyclohydrolase I; NIF3-like protein 1)
Note: presumably soluble (membrane word is not in UniProt keywords or features)
Putative GTP cyclohydrolase 1 type 2 NIF3L1; 3.5.4.16 (Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 1 protein; GTP cyclohydrolase I; NIF3-like protein 1)
Note: presumably soluble (membrane word is not in UniProt keywords or features)
UniProt
Q9GZT8
ID GTPC1_HUMAN Reviewed; 377 AA.
AC Q9GZT8; Q53TX4; Q6X735; Q9H2D2; Q9HC18;
DT 15-MAY-2002, integrated into UniProtKB/Swiss-Prot.
read moreDT 13-NOV-2007, sequence version 2.
DT 22-JAN-2014, entry version 117.
DE RecName: Full=Putative GTP cyclohydrolase 1 type 2 NIF3L1;
DE EC=3.5.4.16;
DE AltName: Full=Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 1 protein;
DE AltName: Full=GTP cyclohydrolase I;
DE AltName: Full=NIF3-like protein 1;
GN Name=NIF3L1; Synonyms=ALS2CR1; ORFNames=MDS015, My018;
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), AND SUBCELLULAR LOCATION.
RX PubMed=11124544;
RA Tascou S., Uedelhoven J., Dixkens C., Nayernia K., Engel W.,
RA Burfeind P.;
RT "Isolation and characterization of a novel human gene, NIF3L1, and its
RT mouse ortholog, Nif3l1, highly conserved from bacteria to mammals.";
RL Cytogenet. Cell Genet. 90:330-336(2000).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
RX PubMed=11161814; DOI=10.1006/geno.2000.6392;
RA Hadano S., Yanagisawa Y., Skaug J., Fichter K., Nasir J.,
RA Martindale D., Koop B.F., Scherer S.W., Nicholson D.W., Rouleau G.A.,
RA Ikeda J.-E., Hayden M.R.;
RT "Cloning and characterization of three novel genes, ALS2CR1, ALS2CR2,
RT and ALS2CR3, in the juvenile amyotrophic lateral sclerosis (ALS2)
RT critical region at chromosome 2q33-q34: candidate genes for ALS2.";
RL Genomics 71:200-213(2001).
RN [3]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3).
RA Merla G., Reymond A.;
RT "NIF3L1 interacts with WBSCR14.";
RL Submitted (MAR-2003) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Fetal brain;
RA Mao Y.M., Xie Y., Huang X.Y., Ying K., Dai J.L.;
RL Submitted (APR-1998) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Hematopoietic stem cell;
RA Huang C., Qian B., Tu Y., Gu W., Wang Y., Han Z., Chen Z.;
RT "Novel genes expressed in hematopoietic stem/progenitor cells from
RT myelodysplastic syndrome patients.";
RL Submitted (SEP-1999) to the EMBL/GenBank/DDBJ databases.
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Ovarian carcinoma;
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 [7]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
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 [8]
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 (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [9]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Skin;
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 [10]
RP ALTERNATIVE SPLICING (ISOFORMS 1 AND 2), INTERACTION WITH THOC7, AND
RP SUBCELLULAR LOCATION.
RX PubMed=12951069; DOI=10.1016/j.bbrc.2003.07.008;
RA Tascou S., Kang T.W., Trappe R., Engel W., Burfeind P.;
RT "Identification and characterization of NIF3L1 BP1, a novel
RT cytoplasmic interaction partner of the NIF3L1 protein.";
RL Biochem. Biophys. Res. Commun. 309:440-448(2003).
RN [11]
RP ACETYLATION [LARGE SCALE ANALYSIS] AT LYS-109, 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 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).
CC -!- FUNCTION: Converts GTP to dihydroneopterin triphosphate (By
CC similarity).
CC -!- CATALYTIC ACTIVITY: GTP + H(2)O = formate + 2-amino-4-hydroxy-6-
CC (erythro-1,2,3-trihydroxypropyl)-dihydropteridine triphosphate.
CC -!- PATHWAY: Cofactor biosynthesis; 7,8-dihydroneopterin triphosphate
CC biosynthesis; 7,8-dihydroneopterin triphosphate from GTP: step
CC 1/1.
CC -!- SUBUNIT: Homodimer. Interacts with COPS2 (By similarity).
CC Interacts with THOC7.
CC -!- INTERACTION:
CC Q8N7W2:BEND7; NbExp=3; IntAct=EBI-740897, EBI-743382;
CC P49366:DHPS; NbExp=3; IntAct=EBI-740897, EBI-741925;
CC Q9UI14:RABAC1; NbExp=3; IntAct=EBI-740897, EBI-712367;
CC Q15645:TRIP13; NbExp=3; IntAct=EBI-740897, EBI-358993;
CC -!- SUBCELLULAR LOCATION: Cytoplasm.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q9GZT8-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9GZT8-2; Sequence=VSP_029328;
CC Name=3; Synonyms=beta;
CC IsoId=Q9GZT8-3; Sequence=VSP_043248;
CC -!- SIMILARITY: Belongs to the GTP cyclohydrolase I type 2 family.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAG14952.1; Type=Frameshift; Positions=104, 109;
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DR EMBL; AF283538; AAG44846.1; -; mRNA.
DR EMBL; AB038949; BAB32499.1; -; mRNA.
DR EMBL; AY251943; AAP84063.1; -; mRNA.
DR EMBL; AF060513; AAG43131.1; -; mRNA.
DR EMBL; AF182416; AAG14952.1; ALT_FRAME; mRNA.
DR EMBL; AK023378; BAB14551.1; -; mRNA.
DR EMBL; AC005037; AAY14724.1; -; Genomic_DNA.
DR EMBL; CH471063; EAW70224.1; -; Genomic_DNA.
DR EMBL; BC007654; AAH07654.1; -; mRNA.
DR RefSeq; NP_001129511.1; NM_001136039.2.
DR RefSeq; NP_001135827.1; NM_001142355.1.
DR RefSeq; NP_001135828.1; NM_001142356.1.
DR RefSeq; NP_068596.2; NM_021824.3.
DR RefSeq; XP_005246799.1; XM_005246742.1.
DR UniGene; Hs.145284; -.
DR ProteinModelPortal; Q9GZT8; -.
DR SMR; Q9GZT8; 52-377.
DR IntAct; Q9GZT8; 39.
DR MINT; MINT-1438019; -.
DR STRING; 9606.ENSP00000386394; -.
DR PhosphoSite; Q9GZT8; -.
DR DMDM; 160112850; -.
DR PaxDb; Q9GZT8; -.
DR PRIDE; Q9GZT8; -.
DR DNASU; 60491; -.
DR Ensembl; ENST00000359683; ENSP00000352711; ENSG00000196290.
DR Ensembl; ENST00000409020; ENSP00000386394; ENSG00000196290.
DR Ensembl; ENST00000409357; ENSP00000387315; ENSG00000196290.
DR Ensembl; ENST00000409588; ENSP00000387021; ENSG00000196290.
DR Ensembl; ENST00000416651; ENSP00000400787; ENSG00000196290.
DR GeneID; 60491; -.
DR KEGG; hsa:60491; -.
DR UCSC; uc002uwl.2; human.
DR CTD; 60491; -.
DR GeneCards; GC02P201718; -.
DR HGNC; HGNC:13390; NIF3L1.
DR HPA; HPA036335; -.
DR MIM; 605778; gene.
DR neXtProt; NX_Q9GZT8; -.
DR PharmGKB; PA31629; -.
DR eggNOG; COG0327; -.
DR HOGENOM; HOG000014260; -.
DR HOVERGEN; HBG029337; -.
DR InParanoid; Q9GZT8; -.
DR OMA; CPHTAVD; -.
DR UniPathway; UPA00848; UER00151.
DR GeneWiki; NIF3L1; -.
DR GenomeRNAi; 60491; -.
DR NextBio; 65383; -.
DR PRO; PR:Q9GZT8; -.
DR ArrayExpress; Q9GZT8; -.
DR Bgee; Q9GZT8; -.
DR CleanEx; HS_NIF3L1; -.
DR Genevestigator; Q9GZT8; -.
DR GO; GO:0005737; C:cytoplasm; IDA:BHF-UCL.
DR GO; GO:0005739; C:mitochondrion; IEA:Ensembl.
DR GO; GO:0005525; F:GTP binding; IEA:UniProtKB-KW.
DR GO; GO:0003934; F:GTP cyclohydrolase I activity; IEA:UniProtKB-EC.
DR GO; GO:0046872; F:metal ion binding; IEA:UniProtKB-KW.
DR GO; GO:0035998; P:7,8-dihydroneopterin 3'-triphosphate biosynthetic process; IEA:UniProtKB-UniPathway.
DR GO; GO:0045893; P:positive regulation of transcription, DNA-dependent; IDA:BHF-UCL.
DR InterPro; IPR002678; Interacting_NIF3.
DR InterPro; IPR017222; UCP037490_NIF3_euk.
DR PANTHER; PTHR13799; PTHR13799; 1.
DR Pfam; PF01784; NIF3; 1.
DR PIRSF; PIRSF037490; UCP037490_NIF3_euk; 1.
DR SUPFAM; SSF102705; SSF102705; 1.
DR TIGRFAMs; TIGR00486; YbgI_SA1388; 1.
PE 1: Evidence at protein level;
KW Acetylation; Alternative splicing; Complete proteome; Cytoplasm;
KW GTP-binding; Hydrolase; Metal-binding; Nucleotide-binding;
KW Polymorphism; Reference proteome.
FT CHAIN 1 377 Putative GTP cyclohydrolase 1 type 2
FT NIF3L1.
FT /FTId=PRO_0000147353.
FT METAL 93 93 Divalent metal cation 2 (By similarity).
FT METAL 131 131 Divalent metal cation 1 (By similarity).
FT METAL 339 339 Divalent metal cation 2 (By similarity).
FT METAL 343 343 Divalent metal cation 1 (By similarity).
FT METAL 343 343 Divalent metal cation 2 (By similarity).
FT MOD_RES 109 109 N6-acetyllysine.
FT VAR_SEQ 1 27 Missing (in isoform 2).
FT /FTId=VSP_029328.
FT VAR_SEQ 243 377 PLLLHTGMGRLCTLDESVSLATMIDRIKRHLKLSHIRLALG
FT VGRTLESQVKVVALCAGSGSSVLQGVEADLYLTGEMSHHDT
FT LDAASQGINVILCEHSNTERGFLSDLRDMLDSHLENKINII
FT LSETDRDPLQVV -> SLKSKSWPCVLVLGAAFCRVLRLTF
FT TSQVRCPIMILWMLLPKE (in isoform 3).
FT /FTId=VSP_043248.
FT VARIANT 324 324 T -> I (in dbSNP:rs7917).
FT /FTId=VAR_037084.
FT CONFLICT 109 109 K -> E (in Ref. 5; AAG14952).
SQ SEQUENCE 377 AA; 41968 MW; 41BDCADDD81CA0D8 CRC64;
MLSSCVRPVP TTVRFVDSLI CNSSRSFMDL KALLSSLNDF ASLSFAESWD NVGLLVEPSP
PHTVNTLFLT NDLTEEVMEE VLQKKADLIL SYHPPIFRPM KRITWNTWKE RLVIRALENR
VGIYSPHTAY DAAPQGVNNW LAKGLGACTS RPIHPSKAPN YPTEGNHRVE FNVNYTQDLD
KVMSAVKGID GVSVTSFSAR TGNEEQTRIN LNCTQKALMQ VVDFLSRNKQ LYQKTEILSL
EKPLLLHTGM GRLCTLDESV SLATMIDRIK RHLKLSHIRL ALGVGRTLES QVKVVALCAG
SGSSVLQGVE ADLYLTGEMS HHDTLDAASQ GINVILCEHS NTERGFLSDL RDMLDSHLEN
KINIILSETD RDPLQVV
//
ID GTPC1_HUMAN Reviewed; 377 AA.
AC Q9GZT8; Q53TX4; Q6X735; Q9H2D2; Q9HC18;
DT 15-MAY-2002, integrated into UniProtKB/Swiss-Prot.
read moreDT 13-NOV-2007, sequence version 2.
DT 22-JAN-2014, entry version 117.
DE RecName: Full=Putative GTP cyclohydrolase 1 type 2 NIF3L1;
DE EC=3.5.4.16;
DE AltName: Full=Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 1 protein;
DE AltName: Full=GTP cyclohydrolase I;
DE AltName: Full=NIF3-like protein 1;
GN Name=NIF3L1; Synonyms=ALS2CR1; ORFNames=MDS015, My018;
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), AND SUBCELLULAR LOCATION.
RX PubMed=11124544;
RA Tascou S., Uedelhoven J., Dixkens C., Nayernia K., Engel W.,
RA Burfeind P.;
RT "Isolation and characterization of a novel human gene, NIF3L1, and its
RT mouse ortholog, Nif3l1, highly conserved from bacteria to mammals.";
RL Cytogenet. Cell Genet. 90:330-336(2000).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
RX PubMed=11161814; DOI=10.1006/geno.2000.6392;
RA Hadano S., Yanagisawa Y., Skaug J., Fichter K., Nasir J.,
RA Martindale D., Koop B.F., Scherer S.W., Nicholson D.W., Rouleau G.A.,
RA Ikeda J.-E., Hayden M.R.;
RT "Cloning and characterization of three novel genes, ALS2CR1, ALS2CR2,
RT and ALS2CR3, in the juvenile amyotrophic lateral sclerosis (ALS2)
RT critical region at chromosome 2q33-q34: candidate genes for ALS2.";
RL Genomics 71:200-213(2001).
RN [3]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3).
RA Merla G., Reymond A.;
RT "NIF3L1 interacts with WBSCR14.";
RL Submitted (MAR-2003) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Fetal brain;
RA Mao Y.M., Xie Y., Huang X.Y., Ying K., Dai J.L.;
RL Submitted (APR-1998) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Hematopoietic stem cell;
RA Huang C., Qian B., Tu Y., Gu W., Wang Y., Han Z., Chen Z.;
RT "Novel genes expressed in hematopoietic stem/progenitor cells from
RT myelodysplastic syndrome patients.";
RL Submitted (SEP-1999) to the EMBL/GenBank/DDBJ databases.
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Ovarian carcinoma;
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 [7]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
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 [8]
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 (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [9]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Skin;
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 [10]
RP ALTERNATIVE SPLICING (ISOFORMS 1 AND 2), INTERACTION WITH THOC7, AND
RP SUBCELLULAR LOCATION.
RX PubMed=12951069; DOI=10.1016/j.bbrc.2003.07.008;
RA Tascou S., Kang T.W., Trappe R., Engel W., Burfeind P.;
RT "Identification and characterization of NIF3L1 BP1, a novel
RT cytoplasmic interaction partner of the NIF3L1 protein.";
RL Biochem. Biophys. Res. Commun. 309:440-448(2003).
RN [11]
RP ACETYLATION [LARGE SCALE ANALYSIS] AT LYS-109, 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 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).
CC -!- FUNCTION: Converts GTP to dihydroneopterin triphosphate (By
CC similarity).
CC -!- CATALYTIC ACTIVITY: GTP + H(2)O = formate + 2-amino-4-hydroxy-6-
CC (erythro-1,2,3-trihydroxypropyl)-dihydropteridine triphosphate.
CC -!- PATHWAY: Cofactor biosynthesis; 7,8-dihydroneopterin triphosphate
CC biosynthesis; 7,8-dihydroneopterin triphosphate from GTP: step
CC 1/1.
CC -!- SUBUNIT: Homodimer. Interacts with COPS2 (By similarity).
CC Interacts with THOC7.
CC -!- INTERACTION:
CC Q8N7W2:BEND7; NbExp=3; IntAct=EBI-740897, EBI-743382;
CC P49366:DHPS; NbExp=3; IntAct=EBI-740897, EBI-741925;
CC Q9UI14:RABAC1; NbExp=3; IntAct=EBI-740897, EBI-712367;
CC Q15645:TRIP13; NbExp=3; IntAct=EBI-740897, EBI-358993;
CC -!- SUBCELLULAR LOCATION: Cytoplasm.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q9GZT8-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9GZT8-2; Sequence=VSP_029328;
CC Name=3; Synonyms=beta;
CC IsoId=Q9GZT8-3; Sequence=VSP_043248;
CC -!- SIMILARITY: Belongs to the GTP cyclohydrolase I type 2 family.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAG14952.1; Type=Frameshift; Positions=104, 109;
CC -----------------------------------------------------------------------
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DR EMBL; AF283538; AAG44846.1; -; mRNA.
DR EMBL; AB038949; BAB32499.1; -; mRNA.
DR EMBL; AY251943; AAP84063.1; -; mRNA.
DR EMBL; AF060513; AAG43131.1; -; mRNA.
DR EMBL; AF182416; AAG14952.1; ALT_FRAME; mRNA.
DR EMBL; AK023378; BAB14551.1; -; mRNA.
DR EMBL; AC005037; AAY14724.1; -; Genomic_DNA.
DR EMBL; CH471063; EAW70224.1; -; Genomic_DNA.
DR EMBL; BC007654; AAH07654.1; -; mRNA.
DR RefSeq; NP_001129511.1; NM_001136039.2.
DR RefSeq; NP_001135827.1; NM_001142355.1.
DR RefSeq; NP_001135828.1; NM_001142356.1.
DR RefSeq; NP_068596.2; NM_021824.3.
DR RefSeq; XP_005246799.1; XM_005246742.1.
DR UniGene; Hs.145284; -.
DR ProteinModelPortal; Q9GZT8; -.
DR SMR; Q9GZT8; 52-377.
DR IntAct; Q9GZT8; 39.
DR MINT; MINT-1438019; -.
DR STRING; 9606.ENSP00000386394; -.
DR PhosphoSite; Q9GZT8; -.
DR DMDM; 160112850; -.
DR PaxDb; Q9GZT8; -.
DR PRIDE; Q9GZT8; -.
DR DNASU; 60491; -.
DR Ensembl; ENST00000359683; ENSP00000352711; ENSG00000196290.
DR Ensembl; ENST00000409020; ENSP00000386394; ENSG00000196290.
DR Ensembl; ENST00000409357; ENSP00000387315; ENSG00000196290.
DR Ensembl; ENST00000409588; ENSP00000387021; ENSG00000196290.
DR Ensembl; ENST00000416651; ENSP00000400787; ENSG00000196290.
DR GeneID; 60491; -.
DR KEGG; hsa:60491; -.
DR UCSC; uc002uwl.2; human.
DR CTD; 60491; -.
DR GeneCards; GC02P201718; -.
DR HGNC; HGNC:13390; NIF3L1.
DR HPA; HPA036335; -.
DR MIM; 605778; gene.
DR neXtProt; NX_Q9GZT8; -.
DR PharmGKB; PA31629; -.
DR eggNOG; COG0327; -.
DR HOGENOM; HOG000014260; -.
DR HOVERGEN; HBG029337; -.
DR InParanoid; Q9GZT8; -.
DR OMA; CPHTAVD; -.
DR UniPathway; UPA00848; UER00151.
DR GeneWiki; NIF3L1; -.
DR GenomeRNAi; 60491; -.
DR NextBio; 65383; -.
DR PRO; PR:Q9GZT8; -.
DR ArrayExpress; Q9GZT8; -.
DR Bgee; Q9GZT8; -.
DR CleanEx; HS_NIF3L1; -.
DR Genevestigator; Q9GZT8; -.
DR GO; GO:0005737; C:cytoplasm; IDA:BHF-UCL.
DR GO; GO:0005739; C:mitochondrion; IEA:Ensembl.
DR GO; GO:0005525; F:GTP binding; IEA:UniProtKB-KW.
DR GO; GO:0003934; F:GTP cyclohydrolase I activity; IEA:UniProtKB-EC.
DR GO; GO:0046872; F:metal ion binding; IEA:UniProtKB-KW.
DR GO; GO:0035998; P:7,8-dihydroneopterin 3'-triphosphate biosynthetic process; IEA:UniProtKB-UniPathway.
DR GO; GO:0045893; P:positive regulation of transcription, DNA-dependent; IDA:BHF-UCL.
DR InterPro; IPR002678; Interacting_NIF3.
DR InterPro; IPR017222; UCP037490_NIF3_euk.
DR PANTHER; PTHR13799; PTHR13799; 1.
DR Pfam; PF01784; NIF3; 1.
DR PIRSF; PIRSF037490; UCP037490_NIF3_euk; 1.
DR SUPFAM; SSF102705; SSF102705; 1.
DR TIGRFAMs; TIGR00486; YbgI_SA1388; 1.
PE 1: Evidence at protein level;
KW Acetylation; Alternative splicing; Complete proteome; Cytoplasm;
KW GTP-binding; Hydrolase; Metal-binding; Nucleotide-binding;
KW Polymorphism; Reference proteome.
FT CHAIN 1 377 Putative GTP cyclohydrolase 1 type 2
FT NIF3L1.
FT /FTId=PRO_0000147353.
FT METAL 93 93 Divalent metal cation 2 (By similarity).
FT METAL 131 131 Divalent metal cation 1 (By similarity).
FT METAL 339 339 Divalent metal cation 2 (By similarity).
FT METAL 343 343 Divalent metal cation 1 (By similarity).
FT METAL 343 343 Divalent metal cation 2 (By similarity).
FT MOD_RES 109 109 N6-acetyllysine.
FT VAR_SEQ 1 27 Missing (in isoform 2).
FT /FTId=VSP_029328.
FT VAR_SEQ 243 377 PLLLHTGMGRLCTLDESVSLATMIDRIKRHLKLSHIRLALG
FT VGRTLESQVKVVALCAGSGSSVLQGVEADLYLTGEMSHHDT
FT LDAASQGINVILCEHSNTERGFLSDLRDMLDSHLENKINII
FT LSETDRDPLQVV -> SLKSKSWPCVLVLGAAFCRVLRLTF
FT TSQVRCPIMILWMLLPKE (in isoform 3).
FT /FTId=VSP_043248.
FT VARIANT 324 324 T -> I (in dbSNP:rs7917).
FT /FTId=VAR_037084.
FT CONFLICT 109 109 K -> E (in Ref. 5; AAG14952).
SQ SEQUENCE 377 AA; 41968 MW; 41BDCADDD81CA0D8 CRC64;
MLSSCVRPVP TTVRFVDSLI CNSSRSFMDL KALLSSLNDF ASLSFAESWD NVGLLVEPSP
PHTVNTLFLT NDLTEEVMEE VLQKKADLIL SYHPPIFRPM KRITWNTWKE RLVIRALENR
VGIYSPHTAY DAAPQGVNNW LAKGLGACTS RPIHPSKAPN YPTEGNHRVE FNVNYTQDLD
KVMSAVKGID GVSVTSFSAR TGNEEQTRIN LNCTQKALMQ VVDFLSRNKQ LYQKTEILSL
EKPLLLHTGM GRLCTLDESV SLATMIDRIK RHLKLSHIRL ALGVGRTLES QVKVVALCAG
SGSSVLQGVE ADLYLTGEMS HHDTLDAASQ GINVILCEHS NTERGFLSDL RDMLDSHLEN
KINIILSETD RDPLQVV
//
MIM
605778
*RECORD*
*FIELD* NO
605778
*FIELD* TI
*605778 NIF3-LIKE 1; NIF3L1
;;ALS2 CHROMOSOME REGION GENE 1; ALS2CR1
*FIELD* TX
CLONING
read more
Using a fragment isolated by suppression subtractive hybridization from
2 male germ cell lines to screen an adult mouse testis cDNA library,
Tascou et al. (2000) identified a novel cDNA, which they termed Nif3l1
because it shows high homology to the S. pombe Ngg1-interacting factor-3
homolog. They isolated human NIF3L1 by EST database searching and
sequencing of clones derived from neuroepithelium and brain cDNA
libraries. The mouse and human cDNAs encode deduced proteins of 376 and
377 amino acids, respectively, that share 84% sequence identity. Both
proteins show strong homology to proteins of lower species, indicating a
high degree of conservation from bacteria to mammals. Northern blot
analysis showed ubiquitous expression of mouse Nif3l1, with a major
transcript size of 1.85 kb. RT-PCR analysis demonstrated ubiquitous
expression of Nif3l1 throughout mouse embryonic development. Expression
analysis on cell lines revealed strong overexpression in a
spermatogonia-derived cell line and a teratocarcinoma cell line. A human
NIF3L1/GFP fusion protein showed localization of the protein in the
cytoplasm.
By sequencing candidate genes in the ALS2 (205100) critical region,
Hadano et al. (2001) identified NIF3L1, which they designated ALS2CR1.
The deduced 350-amino acid protein has a calculated molecular mass of
about 39 kD. Northern blot analysis detected a major 1.6-kb transcript
and a minor 4.2-kb transcript that were expressed at highest levels in
heart, skeletal muscle, and testis.
GENE STRUCTURE
Tascou et al. (2000) determined that the NIF3L1 gene contains 7 exons
and spans 14.5 kb of genomic DNA.
MAPPING
By STS analysis and electronic PCR, Tascou et al. (2000) mapped the
NIF3L1 gene to chromosome 2q33. By FISH, they mapped the mouse Nif3l1
gene to a region of conserved synteny on chromosome 1C.
*FIELD* RF
1. Hadano, S.; Yanagisawa, Y.; Skaug, J.; Fichter, K.; Nasir, J.;
Martindale, D.; Koop, B. F.; Scherer, S. W.; Nicholson, D. W.; Rouleau,
G. A.; Ikeda, J.-E.; Hayden, M. R.: Cloning and characterization
of three novel genes, ALS2CR1, ALS2CR2, and ALS2CR3, in the juvenile
amyotrophic lateral sclerosis (ALS2) critical region at chromosome
2q33-q34: candidate genes for ALS2. Genomics 71: 200-213, 2001.
2. Tascou, S.; Uedelhoven, J.; Dixkens, C.; Nayernia, K.; Engel, W.;
Burfeind, P.: Isolation and characterization of a novel human gene,
NIF3L1, and its mouse ortholog, Nif3l1, highly conserved from bacteria
to mammals. Cytogenet. Cell Genet. 90: 330-336, 2000.
*FIELD* CN
Patricia A. Hartz - updated: 11/8/2002
*FIELD* CD
Carol A. Bocchini: 3/26/2001
*FIELD* ED
carol: 07/19/2012
mgross: 11/8/2002
carol: 3/27/2001
*RECORD*
*FIELD* NO
605778
*FIELD* TI
*605778 NIF3-LIKE 1; NIF3L1
;;ALS2 CHROMOSOME REGION GENE 1; ALS2CR1
*FIELD* TX
CLONING
read more
Using a fragment isolated by suppression subtractive hybridization from
2 male germ cell lines to screen an adult mouse testis cDNA library,
Tascou et al. (2000) identified a novel cDNA, which they termed Nif3l1
because it shows high homology to the S. pombe Ngg1-interacting factor-3
homolog. They isolated human NIF3L1 by EST database searching and
sequencing of clones derived from neuroepithelium and brain cDNA
libraries. The mouse and human cDNAs encode deduced proteins of 376 and
377 amino acids, respectively, that share 84% sequence identity. Both
proteins show strong homology to proteins of lower species, indicating a
high degree of conservation from bacteria to mammals. Northern blot
analysis showed ubiquitous expression of mouse Nif3l1, with a major
transcript size of 1.85 kb. RT-PCR analysis demonstrated ubiquitous
expression of Nif3l1 throughout mouse embryonic development. Expression
analysis on cell lines revealed strong overexpression in a
spermatogonia-derived cell line and a teratocarcinoma cell line. A human
NIF3L1/GFP fusion protein showed localization of the protein in the
cytoplasm.
By sequencing candidate genes in the ALS2 (205100) critical region,
Hadano et al. (2001) identified NIF3L1, which they designated ALS2CR1.
The deduced 350-amino acid protein has a calculated molecular mass of
about 39 kD. Northern blot analysis detected a major 1.6-kb transcript
and a minor 4.2-kb transcript that were expressed at highest levels in
heart, skeletal muscle, and testis.
GENE STRUCTURE
Tascou et al. (2000) determined that the NIF3L1 gene contains 7 exons
and spans 14.5 kb of genomic DNA.
MAPPING
By STS analysis and electronic PCR, Tascou et al. (2000) mapped the
NIF3L1 gene to chromosome 2q33. By FISH, they mapped the mouse Nif3l1
gene to a region of conserved synteny on chromosome 1C.
*FIELD* RF
1. Hadano, S.; Yanagisawa, Y.; Skaug, J.; Fichter, K.; Nasir, J.;
Martindale, D.; Koop, B. F.; Scherer, S. W.; Nicholson, D. W.; Rouleau,
G. A.; Ikeda, J.-E.; Hayden, M. R.: Cloning and characterization
of three novel genes, ALS2CR1, ALS2CR2, and ALS2CR3, in the juvenile
amyotrophic lateral sclerosis (ALS2) critical region at chromosome
2q33-q34: candidate genes for ALS2. Genomics 71: 200-213, 2001.
2. Tascou, S.; Uedelhoven, J.; Dixkens, C.; Nayernia, K.; Engel, W.;
Burfeind, P.: Isolation and characterization of a novel human gene,
NIF3L1, and its mouse ortholog, Nif3l1, highly conserved from bacteria
to mammals. Cytogenet. Cell Genet. 90: 330-336, 2000.
*FIELD* CN
Patricia A. Hartz - updated: 11/8/2002
*FIELD* CD
Carol A. Bocchini: 3/26/2001
*FIELD* ED
carol: 07/19/2012
mgross: 11/8/2002
carol: 3/27/2001