2024-04-27 09:59:58, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_003756 1286 bp mRNA linear PRI 15-JUN-2013 DEFINITION Homo sapiens eukaryotic translation initiation factor 3, subunit H (EIF3H), mRNA. ACCESSION NM_003756 VERSION NM_003756.2 GI:83656776 KEYWORDS RefSeq. SOURCE Homo sapiens (human) ORGANISM Homo sapiens Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo. REFERENCE 1 (bases 1 to 1286) AUTHORS Mishra,A., Yazar,S., Hewitt,A.W., Mountain,J.A., Ang,W., Pennell,C.E., Martin,N.G., Montgomery,G.W., Hammond,C.J., Young,T.L., Macgregor,S. and Mackey,D.A. TITLE Genetic variants near PDGFRA are associated with corneal curvature in Australians JOURNAL Invest. Ophthalmol. Vis. Sci. 53 (11), 7131-7136 (2012) PUBMED 22969067 REMARK Publication Status: Online-Only REFERENCE 2 (bases 1 to 1286) AUTHORS Peters,U., Hutter,C.M., Hsu,L., Schumacher,F.R., Conti,D.V., Carlson,C.S., Edlund,C.K., Haile,R.W., Gallinger,S., Zanke,B.W., Lemire,M., Rangrej,J., Vijayaraghavan,R., Chan,A.T., Hazra,A., Hunter,D.J., Ma,J., Fuchs,C.S., Giovannucci,E.L., Kraft,P., Liu,Y., Chen,L., Jiao,S., Makar,K.W., Taverna,D., Gruber,S.B., Rennert,G., Moreno,V., Ulrich,C.M., Woods,M.O., Green,R.C., Parfrey,P.S., Prentice,R.L., Kooperberg,C., Jackson,R.D., Lacroix,A.Z., Caan,B.J., Hayes,R.B., Berndt,S.I., Chanock,S.J., Schoen,R.E., Chang-Claude,J., Hoffmeister,M., Brenner,H., Frank,B., Bezieau,S., Kury,S., Slattery,M.L., Hopper,J.L., Jenkins,M.A., Le Marchand,L., Lindor,N.M., Newcomb,P.A., Seminara,D., Hudson,T.J., Duggan,D.J., Potter,J.D. and Casey,G. TITLE Meta-analysis of new genome-wide association studies of colorectal cancer risk JOURNAL Hum. Genet. 131 (2), 217-234 (2012) PUBMED 21761138 REFERENCE 3 (bases 1 to 1286) AUTHORS Kupfer,S.S., Anderson,J.R., Hooker,S., Skol,A., Kittles,R.A., Keku,T.O., Sandler,R.S. and Ellis,N.A. TITLE Genetic heterogeneity in colorectal cancer associations between African and European americans JOURNAL Gastroenterology 139 (5), 1677-1685 (2010) PUBMED 20659471 REMARK GeneRIF: Observational study of gene-disease association. (HuGE Navigator) REFERENCE 4 (bases 1 to 1286) AUTHORS Pittman,A.M., Naranjo,S., Jalava,S.E., Twiss,P., Ma,Y., Olver,B., Lloyd,A., Vijayakrishnan,J., Qureshi,M., Broderick,P., van Wezel,T., Morreau,H., Tuupanen,S., Aaltonen,L.A., Alonso,M.E., Manzanares,M., Gavilan,A., Visakorpi,T., Gomez-Skarmeta,J.L. and Houlston,R.S. TITLE Allelic variation at the 8q23.3 colorectal cancer risk locus functions as a cis-acting regulator of EIF3H JOURNAL PLoS Genet. 6 (9), E1001126 (2010) PUBMED 20862326 REMARK GeneRIF: Increased expression of EIF3H gene increases colorectal cancer growth and invasiveness thereby providing a biological mechanism for the 8q23.3 association. Publication Status: Online-Only REFERENCE 5 (bases 1 to 1286) AUTHORS Hawken,S.J., Greenwood,C.M., Hudson,T.J., Kustra,R., McLaughlin,J., Yang,Q., Zanke,B.W. and Little,J. TITLE The utility and predictive value of combinations of low penetrance genes for screening and risk prediction of colorectal cancer JOURNAL Hum. Genet. 128 (1), 89-101 (2010) PUBMED 20437058 REMARK GeneRIF: Observational study of genetic testing. (HuGE Navigator) REFERENCE 6 (bases 1 to 1286) AUTHORS Saramaki,O., Willi,N., Bratt,O., Gasser,T.C., Koivisto,P., Nupponen,N.N., Bubendorf,L. and Visakorpi,T. TITLE Amplification of EIF3S3 gene is associated with advanced stage in prostate cancer JOURNAL Am. J. Pathol. 159 (6), 2089-2094 (2001) PUBMED 11733359 REMARK GeneRIF: Gain of EIF3S3 was associated with poor cancer-specific survival in incidentally found prostate carcinomas. REFERENCE 7 (bases 1 to 1286) AUTHORS Block,K.L., Vornlocher,H.P. and Hershey,J.W. TITLE Characterization of cDNAs encoding the p44 and p35 subunits of human translation initiation factor eIF3 JOURNAL J. Biol. Chem. 273 (48), 31901-31908 (1998) PUBMED 9822659 REFERENCE 8 (bases 1 to 1286) AUTHORS Asano,K., Vornlocher,H.P., Richter-Cook,N.J., Merrick,W.C., Hinnebusch,A.G. and Hershey,J.W. TITLE Structure of cDNAs encoding human eukaryotic initiation factor 3 subunits. Possible roles in RNA binding and macromolecular assembly JOURNAL J. Biol. Chem. 272 (43), 27042-27052 (1997) PUBMED 9341143 REFERENCE 9 (bases 1 to 1286) AUTHORS Methot,N., Rom,E., Olsen,H. and Sonenberg,N. TITLE The human homologue of the yeast Prt1 protein is an integral part of the eukaryotic initiation factor 3 complex and interacts with p170 JOURNAL J. Biol. Chem. 272 (2), 1110-1116 (1997) PUBMED 8995410 REFERENCE 10 (bases 1 to 1286) AUTHORS Asano,K., Kinzy,T.G., Merrick,W.C. and Hershey,J.W. TITLE Conservation and diversity of eukaryotic translation initiation factor eIF3 JOURNAL J. Biol. Chem. 272 (2), 1101-1109 (1997) PUBMED 8995409 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. This record has been curated by NCBI staff in collaboration with Francesco Amaldi. The reference sequence was derived from AU117206.1, U54559.1 and AA902770.1. On Dec 15, 2005 this sequence version replaced gi:4503514. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK222520.1, BC000386.2 [ECO:0000332] RNAseq introns :: single sample supports all introns ERS025084, ERS025088 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: full length. PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-21 AU117206.1 1-21 22-1244 U54559.1 1-1223 1245-1286 AA902770.1 1-42 c FEATURES Location/Qualifiers source 1..1286 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="8" /map="8q24.11" gene 1..1286 /gene="EIF3H" /gene_synonym="eIF3-gamma; eIF3-p40; EIF3S3" /note="eukaryotic translation initiation factor 3, subunit H" /db_xref="GeneID:8667" /db_xref="HGNC:3273" /db_xref="HPRD:04885" /db_xref="MIM:603912" exon 1..158 /gene="EIF3H" /gene_synonym="eIF3-gamma; eIF3-p40; EIF3S3" /inference="alignment:Splign:1.39.8" misc_feature 1 /gene="EIF3H" /gene_synonym="eIF3-gamma; eIF3-p40; EIF3S3" /note="predominant transcription initiation site" CDS 27..1085 /gene="EIF3H" /gene_synonym="eIF3-gamma; eIF3-p40; EIF3S3" /note="eukaryotic translation initiation factor 3, subunit 2 (beta, 36kD); eukaryotic translation initiation factor 3, subunit 3 (gamma, 40kD); eukaryotic translation initiation factor 3, subunit 3 gamma, 40kDa; eIF-3-gamma; eIF3 p40 subunit; eukaryotic translation initiation factor 3 subunit 3" /codon_start=1 /product="eukaryotic translation initiation factor 3 subunit H" /protein_id="NP_003747.1" /db_xref="GI:4503515" /db_xref="CCDS:CCDS6319.1" /db_xref="GeneID:8667" /db_xref="HGNC:3273" /db_xref="HPRD:04885" /db_xref="MIM:603912" /translation="
MASRKEGTGSTATSSSSTAGAAGKGKGKGGSGDSAVKQVQIDGLVVLKIIKHYQEEGQGTEVVQGVLLGLVVEDRLEITNCFPFPQHTEDDADFDEVQYQMEMMRSLRHVNIDHLHVGWYQSTYYGSFVTRALLDSQFSYQHAIEESVVLIYDPIKTAQGSLSLKAYRLTPKLMEVCKEKDFSPEALKKANITFEYMFEEVPIVIKNSHLINVLMWELEKKSAVADKHELLSLASSNHLGKNLQLLMDRVDEMSQDIVKYNTYMRNTSKQQQQKHQYQQRRQQENMQRQSRGEPPLPEEDLSKLFKPPQPPARMDSLLIAGQINTYCQNIKEFTAQNLGKLFMAQALQEYNN
" misc_feature 135..926 /gene="EIF3H" /gene_synonym="eIF3-gamma; eIF3-p40; EIF3S3" /note="Mpr1p, Pad1p N-terminal (MPN) domains without catalytic isopeptidase activity, found in eIF2h; Region: MPN_eIF3h; cd08065" /db_xref="CDD:163696" misc_feature 573..575 /gene="EIF3H" /gene_synonym="eIF3-gamma; eIF3-p40; EIF3S3" /experiment="experimental evidence, no additional details recorded" /note="Phosphoserine; propagated from UniProtKB/Swiss-Prot (O15372.1); phosphorylation site" misc_feature 573..575 /gene="EIF3H" /gene_synonym="eIF3-gamma; eIF3-p40; EIF3S3" /experiment="experimental evidence, no additional details recorded" /note="phosphorylation site" variation 47..48 /gene="EIF3H" /gene_synonym="eIF3-gamma; eIF3-p40; EIF3S3" /replace="c" /replace="t" /db_xref="dbSNP:11547842" variation 83 /gene="EIF3H" /gene_synonym="eIF3-gamma; eIF3-p40; EIF3S3" /replace="c" /replace="t" /db_xref="dbSNP:11547841" exon 159..315 /gene="EIF3H" /gene_synonym="eIF3-gamma; eIF3-p40; EIF3S3" /inference="alignment:Splign:1.39.8" variation 251 /gene="EIF3H" /gene_synonym="eIF3-gamma; eIF3-p40; EIF3S3" /replace="a" /replace="g" /db_xref="dbSNP:11547844" variation 280 /gene="EIF3H" /gene_synonym="eIF3-gamma; eIF3-p40; EIF3S3" /replace="c" /replace="t" /db_xref="dbSNP:11547840" exon 316..483 /gene="EIF3H" /gene_synonym="eIF3-gamma; eIF3-p40; EIF3S3" /inference="alignment:Splign:1.39.8" exon 484..583 /gene="EIF3H" /gene_synonym="eIF3-gamma; eIF3-p40; EIF3S3" /inference="alignment:Splign:1.39.8" variation 504 /gene="EIF3H" /gene_synonym="eIF3-gamma; eIF3-p40; EIF3S3" /replace="g" /replace="t" /db_xref="dbSNP:11547846" exon 584..733 /gene="EIF3H" /gene_synonym="eIF3-gamma; eIF3-p40; EIF3S3" /inference="alignment:Splign:1.39.8" exon 734..854 /gene="EIF3H" /gene_synonym="eIF3-gamma; eIF3-p40; EIF3S3" /inference="alignment:Splign:1.39.8" exon 855..987 /gene="EIF3H" /gene_synonym="eIF3-gamma; eIF3-p40; EIF3S3" /inference="alignment:Splign:1.39.8" variation 910 /gene="EIF3H" /gene_synonym="eIF3-gamma; eIF3-p40; EIF3S3" /replace="a" /replace="c" /replace="t" /db_xref="dbSNP:1804928" variation 962 /gene="EIF3H" /gene_synonym="eIF3-gamma; eIF3-p40; EIF3S3" /replace="c" /replace="t" /db_xref="dbSNP:11547843" exon 988..1275 /gene="EIF3H" /gene_synonym="eIF3-gamma; eIF3-p40; EIF3S3" /inference="alignment:Splign:1.39.8" STS 1070..1232 /gene="EIF3H" /gene_synonym="eIF3-gamma; eIF3-p40; EIF3S3" /standard_name="A001W19" /db_xref="UniSTS:35857" STS 1070..1232 /gene="EIF3H" /gene_synonym="eIF3-gamma; eIF3-p40; EIF3S3" /standard_name="G19711" /db_xref="UniSTS:35856" STS 1112..1236 /gene="EIF3H" /gene_synonym="eIF3-gamma; eIF3-p40; EIF3S3" /standard_name="SHGC-31909" /db_xref="UniSTS:19853" variation 1116 /gene="EIF3H" /gene_synonym="eIF3-gamma; eIF3-p40; EIF3S3" /replace="a" /replace="c" /db_xref="dbSNP:1804926" variation 1135 /gene="EIF3H" /gene_synonym="eIF3-gamma; eIF3-p40; EIF3S3" /replace="c" /replace="t" /db_xref="dbSNP:1804927" variation 1149 /gene="EIF3H" /gene_synonym="eIF3-gamma; eIF3-p40; EIF3S3" /replace="c" /replace="g" /db_xref="dbSNP:10054" polyA_signal 1237..1242 /gene="EIF3H" /gene_synonym="eIF3-gamma; eIF3-p40; EIF3S3" polyA_signal 1242..1247 /gene="EIF3H" /gene_synonym="eIF3-gamma; eIF3-p40; EIF3S3" polyA_site 1259 /gene="EIF3H" /gene_synonym="eIF3-gamma; eIF3-p40; EIF3S3" /experiment="experimental evidence, no additional details recorded" /note="predominant polyadenylation site" polyA_site 1275 /gene="EIF3H" /gene_synonym="eIF3-gamma; eIF3-p40; EIF3S3" /experiment="experimental evidence, no additional details recorded" ORIGIN
ctctttcttcctgtctgcttggaaagatggcgtcccgcaaggaaggtaccggctctactgccacctcttccagctccaccgccggcgcagcagggaaaggcaaaggcaaaggcggctcgggagattcagccgtgaagcaagtgcagatagatggccttgtggtattaaagataatcaaacattatcaagaagaaggacaaggaactgaagttgttcaaggagtgcttttgggtctggttgtagaagatcggcttgaaattaccaactgctttcctttccctcagcacacagaggatgatgctgactttgatgaagtccaatatcagatggaaatgatgcggagccttcgccatgtaaacattgatcatcttcacgtgggctggtatcagtccacatactatggctcattcgttacccgggcactcctggactctcagtttagttaccagcatgccattgaagaatctgtcgttctcatttatgatcccataaaaactgcccaaggatctctctcactaaaggcatacagactgactcctaaactgatggaagtttgtaaagaaaaggatttttcccctgaagcattgaaaaaagcaaatatcacctttgagtacatgtttgaagaagtgccgattgtaattaaaaattcacatctgatcaatgtcctaatgtgggaacttgaaaagaagtcagctgttgcagataaacatgaattgctcagccttgccagcagcaatcatttggggaagaatctacagttgctgatggacagagtggatgaaatgagccaagatatagttaaatacaacacatacatgaggaatactagtaaacaacagcagcagaaacatcagtatcagcagcgtcgccagcaggagaatatgcagcgccagagccgaggagaacccccgctccctgaggaggacctgtccaaactcttcaaaccaccacagccgcctgccaggatggactcgctgctcattgcaggccagataaacacttactgccagaacatcaaggagttcactgcccaaaacttaggcaagctcttcatggcccaggctcttcaagaatacaacaactaagaaaaggaagtttccagaaaagaagttaacatgaactcttgaagtcacaccagggcaactcttggaagaaatatatttgcatattgaaaagcacagaggatttctttagtgtcattgccgattttggctataacagtgtctttctagccataataaaataaaacaaaatcttgactgcttgctcatttgaaaaaaaaaaaa
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ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:8667 -> Molecular function: GO:0003743 [translation initiation factor activity] evidence: IC GeneID:8667 -> Molecular function: GO:0003743 [translation initiation factor activity] evidence: IDA GeneID:8667 -> Molecular function: GO:0005515 [protein binding] evidence: IPI GeneID:8667 -> Biological process: GO:0001731 [formation of translation preinitiation complex] evidence: IEA GeneID:8667 -> Biological process: GO:0006412 [translation] evidence: TAS GeneID:8667 -> Biological process: GO:0006413 [translational initiation] evidence: IC GeneID:8667 -> Biological process: GO:0006413 [translational initiation] evidence: IDA GeneID:8667 -> Biological process: GO:0006413 [translational initiation] evidence: TAS GeneID:8667 -> Biological process: GO:0006446 [regulation of translational initiation] evidence: TAS GeneID:8667 -> Biological process: GO:0010467 [gene expression] evidence: TAS GeneID:8667 -> Biological process: GO:0044267 [cellular protein metabolic process] evidence: TAS GeneID:8667 -> Cellular component: GO:0005737 [cytoplasm] evidence: IDA GeneID:8667 -> Cellular component: GO:0005829 [cytosol] evidence: TAS GeneID:8667 -> Cellular component: GO:0005852 [eukaryotic translation initiation factor 3 complex] evidence: IDA GeneID:8667 -> Cellular component: GO:0016282 [eukaryotic 43S preinitiation complex] evidence: IEA GeneID:8667 -> Cellular component: GO:0033290 [eukaryotic 48S preinitiation complex] evidence: IEA
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