2024-04-25 08:46:51, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_005658 4450 bp mRNA linear PRI 19-MAY-2013 DEFINITION Homo sapiens TNF receptor-associated factor 1 (TRAF1), transcript variant 1, mRNA. ACCESSION NM_005658 VERSION NM_005658.4 GI:300193046 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 4450) AUTHORS Xu,K., Peng,H., Zhou,M., Wang,W., Li,R., Zhu,K.K., Zhang,M., Wen,P.F., Pan,H.F. and Ye,D.Q. TITLE Association study of TRAF1/C5 polymorphism (rs10818488) with susceptibility to rheumatoid arthritis and systemic lupus erythematosus: a meta-analysis JOURNAL Gene 517 (1), 46-54 (2013) PUBMED 23321589 REMARK GeneRIF: TRAF1 polymorphism is associated with systemic lupus erythematosus in North Africa group and rheumatoid arthritis in European population. REFERENCE 2 (bases 1 to 4450) AUTHORS Lee,Y.H. and Song,G.G. TITLE Associations between TNFSF4 and TRAF1-C5 gene polymorphisms and systemic lupus erythematosus: a meta-analysis JOURNAL Hum. Immunol. 73 (10), 1050-1054 (2012) PUBMED 22820624 REMARK GeneRIF: An association was found between the rs10818488 polymorphism of TRAF1-C5 and susceptibility to systemic lupus erythemaosis in Europeans [Meta-analysis] REFERENCE 3 (bases 1 to 4450) AUTHORS Knevel,R., de Rooy,D.P., Gregersen,P.K., Lindqvist,E., Wilson,A.G., Grondal,G., Zhernakova,A., van Nies,J.A., Toes,R.E., Tsonaka,R., Houwing-Duistermaat,J.J., Steinsson,K., Huizinga,T.W., Saxne,T. and van der Helm-van Mil,A.H. TITLE Studying associations between variants in TRAF1-C5 and TNFAIP3-OLIG3 and the progression of joint destruction in rheumatoid arthritis in multiple cohorts JOURNAL Ann. Rheum. Dis. 71 (10), 1753-1755 (2012) PUBMED 22586175 REMARK GeneRIF: the present data do not support the initial findings that single-nucleotide polymorphisms of TRAF1-C5 and TNFAIP3-OLIG3 rare associated with the severity of joint destruction in RA. Erratum:[Ann Rheum Dis. 2012 Dec;71(12):2064] REFERENCE 4 (bases 1 to 4450) AUTHORS Fakhfakh Karray,E., Chalbi,H., Ben Dhifallah,I., Zakraoui,L. and Hamzaoui,K. TITLE Association study of TRAF1-C5 polymorphism with susceptibility to rheumatoid arthritis in Tunisian population JOURNAL Joint Bone Spine 79 (3), 331-332 (2012) PUBMED 22284611 REMARK GeneRIF: We confirmed the positive association of rs10818488 A allele with rheimatoid arthritis in Tunisia. REFERENCE 5 (bases 1 to 4450) AUTHORS Kempinska-Podhorodecka,A., Shums,Z., Wasilewicz,M., Wunsch,E., Milkiewicz,M., Bogdanos,D.P., Norman,G.L. and Milkiewicz,P. TITLE TRAF1 gene polymorphism correlates with the titre of Gp210 antibody in patients with primary biliary cirrhosis JOURNAL Clin. Dev. Immunol. 2012, 487521 (2012) PUBMED 23125866 REMARK GeneRIF: The frequency of TRAF1 rs3761847 and rs2900180 polymorphisms did not differ between patients and controls. REFERENCE 6 (bases 1 to 4450) AUTHORS Hsu,H., Huang,J., Shu,H.B., Baichwal,V. and Goeddel,D.V. TITLE TNF-dependent recruitment of the protein kinase RIP to the TNF receptor-1 signaling complex JOURNAL Immunity 4 (4), 387-396 (1996) PUBMED 8612133 REFERENCE 7 (bases 1 to 4450) AUTHORS Hsu,H., Shu,H.B., Pan,M.G. and Goeddel,D.V. TITLE TRADD-TRAF2 and TRADD-FADD interactions define two distinct TNF receptor 1 signal transduction pathways JOURNAL Cell 84 (2), 299-308 (1996) PUBMED 8565075 REFERENCE 8 (bases 1 to 4450) AUTHORS Mosialos,G., Birkenbach,M., Yalamanchili,R., VanArsdale,T., Ware,C. and Kieff,E. TITLE The Epstein-Barr virus transforming protein LMP1 engages signaling proteins for the tumor necrosis factor receptor family JOURNAL Cell 80 (3), 389-399 (1995) PUBMED 7859281 REFERENCE 9 (bases 1 to 4450) AUTHORS Hu,H.M., O'Rourke,K., Boguski,M.S. and Dixit,V.M. TITLE A novel RING finger protein interacts with the cytoplasmic domain of CD40 JOURNAL J. Biol. Chem. 269 (48), 30069-30072 (1994) PUBMED 7527023 REFERENCE 10 (bases 1 to 4450) AUTHORS Rothe,M., Wong,S.C., Henzel,W.J. and Goeddel,D.V. TITLE A novel family of putative signal transducers associated with the cytoplasmic domain of the 75 kDa tumor necrosis factor receptor JOURNAL Cell 78 (4), 681-692 (1994) PUBMED 8069916 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AL832989.1, AK315476.1, U19261.1 and AC006430.22. On Jul 7, 2010 this sequence version replaced gi:53759116. Summary: The protein encoded by this gene is a member of the TNF receptor (TNFR) associated factor (TRAF) protein family. TRAF proteins associate with, and mediate the signal transduction from various receptors of the TNFR superfamily. This protein and TRAF2 form a heterodimeric complex, which is required for TNF-alpha-mediated activation of MAPK8/JNK and NF-kappaB. The protein complex formed by this protein and TRAF2 also interacts with inhibitor-of-apoptosis proteins (IAPs), and thus mediates the anti-apoptotic signals from TNF receptors. The expression of this protein can be induced by Epstein-Barr virus (EBV). EBV infection membrane protein 1 (LMP1) is found to interact with this and other TRAF proteins; this interaction is thought to link LMP1-mediated B lymphocyte transformation to the signal transduction from TNFR family receptors. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2010]. Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a). Variants 1 and 2 both encode the same isoform (a). Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. 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 :: AK090468.1, AL832989.1 [ECO:0000332] RNAseq introns :: single sample supports all introns ERS025084, ERS025088 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end. PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-736 AL832989.1 1875-2610 737-1591 AK315476.1 618-1472 1592-2425 U19261.1 1095-1928 2426-4450 AC006430.22 16475-18499 c FEATURES Location/Qualifiers source 1..4450 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="9" /map="9q33-q34" gene 1..4450 /gene="TRAF1" /gene_synonym="EBI6; MGC:10353" /note="TNF receptor-associated factor 1" /db_xref="GeneID:7185" /db_xref="HGNC:12031" /db_xref="HPRD:03418" /db_xref="MIM:601711" exon 1..346 /gene="TRAF1" /gene_synonym="EBI6; MGC:10353" /inference="alignment:Splign:1.39.8" variation 70 /gene="TRAF1" /gene_synonym="EBI6; MGC:10353" /replace="g" /replace="t" /db_xref="dbSNP:2301334" exon 347..712 /gene="TRAF1" /gene_synonym="EBI6; MGC:10353" /inference="alignment:Splign:1.39.8" misc_feature 456..458 /gene="TRAF1" /gene_synonym="EBI6; MGC:10353" /note="upstream in-frame stop codon" CDS 573..1823 /gene="TRAF1" /gene_synonym="EBI6; MGC:10353" /note="isoform a is encoded by transcript variant 1; Epstein-Bar virus-induced protein 6" /codon_start=1 /product="TNF receptor-associated factor 1 isoform a" /protein_id="NP_005649.1" /db_xref="GI:5032193" /db_xref="CCDS:CCDS6825.1" /db_xref="GeneID:7185" /db_xref="HGNC:12031" /db_xref="HPRD:03418" /db_xref="MIM:601711" /translation="
MASSSGSSPRPAPDENEFPFGCPPTVCQDPKEPRALCCAGCLSENPRNGEDQICPKCRGEDLQSISPGSRLRTQEKAHPEVAEAGIGCPFAGVGCSFKGSPQSVQEHEVTSQTSHLNLLLGFMKQWKARLGCGLESGPMALEQNLSDLQLQAAVEVAGDLEVDCYRAPCSESQEELALQHFMKEKLLAELEGKLRVFENIVAVLNKEVEASHLALATSIHQSQLDRERILSLEQRVVELQQTLAQKDQALGKLEQSLRLMEEASFDGTFLWKITNVTRRCHESACGRTVSLFSPAFYTAKYGYKLCLRLYLNGDGTGKRTHLSLFIVIMRGEYDALLPWPFRNKVTFMLLDQNNREHAIDAFRPDLSSASFQRPQSETNVASGCPLFFPLSKLQSPKHAYVKDDTMFLKCIVETST
" misc_feature 1059..1064 /gene="TRAF1" /gene_synonym="EBI6; MGC:10353" /experiment="experimental evidence, no additional details recorded" /note="Cleavage, by CASP8; propagated from UniProtKB/Swiss-Prot (Q13077.1); cleavage site" misc_feature 1059..1061 /gene="TRAF1" /gene_synonym="EBI6; MGC:10353" /experiment="experimental evidence, no additional details recorded" /note="proteolytic cleavage site; modified site" /db_xref="HPRD:02799" misc_feature 1059..1061 /gene="TRAF1" /gene_synonym="EBI6; MGC:10353" /experiment="experimental evidence, no additional details recorded" /note="proteolytic cleavage site; modified site" /db_xref="HPRD:03321" misc_feature 1059..1061 /gene="TRAF1" /gene_synonym="EBI6; MGC:10353" /experiment="experimental evidence, no additional details recorded" /note="proteolytic cleavage site; modified site" /db_xref="HPRD:03459" misc_feature 1371..1811 /gene="TRAF1" /gene_synonym="EBI6; MGC:10353" /note="Tumor Necrosis Factor Receptor (TNFR) Associated Factor (TRAF) family, TRAF1 subfamily, TRAF domain, C-terminal MATH subdomain; TRAF molecules serve as adapter proteins that link TNFRs and downstream kinase cascades resulting in the activation of...; Region: MATH_TRAF1; cd03779" /db_xref="CDD:58110" misc_feature order(1380..1382,1386..1388,1470..1475,1566..1568, 1575..1577,1626..1628) /gene="TRAF1" /gene_synonym="EBI6; MGC:10353" /note="trimer interface [polypeptide binding]; other site" /db_xref="CDD:58110" misc_feature order(1494..1496,1500..1502,1512..1514,1545..1547, 1656..1661,1710..1721) /gene="TRAF1" /gene_synonym="EBI6; MGC:10353" /note="TNFR binding site; other site" /db_xref="CDD:58110" misc_feature order(1518..1520,1533..1535,1650..1652,1659..1667, 1674..1679,1683..1685,1716..1721,1737..1739) /gene="TRAF1" /gene_synonym="EBI6; MGC:10353" /note="putative TRADD binding site [polypeptide binding]; other site" /db_xref="CDD:58110" exon 713..800 /gene="TRAF1" /gene_synonym="EBI6; MGC:10353" /inference="alignment:Splign:1.39.8" exon 801..866 /gene="TRAF1" /gene_synonym="EBI6; MGC:10353" /inference="alignment:Splign:1.39.8" exon 867..1277 /gene="TRAF1" /gene_synonym="EBI6; MGC:10353" /inference="alignment:Splign:1.39.8" exon 1278..1455 /gene="TRAF1" /gene_synonym="EBI6; MGC:10353" /inference="alignment:Splign:1.39.8" variation 1298 /gene="TRAF1" /gene_synonym="EBI6; MGC:10353" /replace="a" /replace="c" /db_xref="dbSNP:17848029" exon 1456..1604 /gene="TRAF1" /gene_synonym="EBI6; MGC:10353" /inference="alignment:Splign:1.39.8" exon 1605..4450 /gene="TRAF1" /gene_synonym="EBI6; MGC:10353" /inference="alignment:Splign:1.39.8" STS 1858..2058 /gene="TRAF1" /gene_synonym="EBI6; MGC:10353" /standard_name="SGC35347" /db_xref="UniSTS:4721" variation 2292 /gene="TRAF1" /gene_synonym="EBI6; MGC:10353" /replace="c" /replace="t" /db_xref="dbSNP:17848033" variation 2295 /gene="TRAF1" /gene_synonym="EBI6; MGC:10353" /replace="a" /replace="t" /db_xref="dbSNP:17848034" STS 2640..2774 /gene="TRAF1" /gene_synonym="EBI6; MGC:10353" /standard_name="RH17818" /db_xref="UniSTS:76746" STS 2692..2825 /gene="TRAF1" /gene_synonym="EBI6; MGC:10353" /standard_name="RH79125" /db_xref="UniSTS:14866" polyA_site 2892 /gene="TRAF1" /gene_synonym="EBI6; MGC:10353" STS 3764..3889 /gene="TRAF1" /gene_synonym="EBI6; MGC:10353" /standard_name="SHGC-30554" /db_xref="UniSTS:79885" variation 4110 /gene="TRAF1" /gene_synonym="EBI6; MGC:10353" /replace="c" /replace="g" /db_xref="dbSNP:3196386" variation 4325 /gene="TRAF1" /gene_synonym="EBI6; MGC:10353" /replace="a" /replace="c" /db_xref="dbSNP:1055895" variation 4331 /gene="TRAF1" /gene_synonym="EBI6; MGC:10353" /replace="a" /replace="c" /db_xref="dbSNP:13053" polyA_site 4450 /gene="TRAF1" /gene_synonym="EBI6; MGC:10353" ORIGIN
gtaaagtggtggcacctgaccggagcatgtagccacctatgacttcctgagtggggtggtgtggggagggccctgaggagtctgtggtcctaggccttggatttcatcagggctttcctgctccttctggttgcctcagtcccaggcaagatagggtcccagaatcttacagcccagaggccacctgttgcaacttcttttttacagatggagtcatcagaacccactgtgaggaagtgacttctccttgaggtcacccagacactccaaacagagcagagcaaaagcgcctagaacttgaaattttggacctgtctccaacaccctggggatttccaccaggaagccttcagtcaccatccaggggatttttatcgccacaaagggtaattcctgctccatccctgctgtgactcagctgtgacgttgaaccacacaagccagagagaagaagataaagtcatcagagctcctactcaccagagagtgaggcccaggccaggactccacaaggctggtcccctgccctggagcaacttaaacaggccctctggccagcctggaaccctgagatggcctccagctcaggcagcagtcctcgcccggcccctgatgagaatgagtttccctttgggtgccctcccaccgtctgccaggacccaaaggagcccagggctctctgctgtgcaggctgtctctctgagaacccgaggaatggcgaggatcagatctgccccaaatgcagaggggaagacctccagtctataagcccaggaagccgtcttcgaactcaggagaaggctcaccccgaggtggctgaggctggaattgggtgcccctttgcaggtgtcggctgctccttcaagggaagcccacagtctgtgcaagagcatgaggtcacctcccagacctcccacctaaacctgctgttggggttcatgaaacagtggaaggcccggctgggctgtggcctggagtctgggcccatggccctggagcagaacctgtcagacctgcagctgcaggcagccgtggaagtggcgggggacctggaggtcgattgctaccgggcaccctgctccgagagccaggaggagctggccctgcagcacttcatgaaggagaagcttctggctgagctggaggggaagctgcgtgtgtttgagaacattgttgctgtcctcaacaaggaggtggaggcctcccacctggccctggccacctctatccaccagagccagctggaccgtgagcgcatcctgagcttggagcagagggtggtggagcttcagcagaccctggcccagaaagaccaggccctgggcaagctggagcagagcttgcgcctcatggaggaggcctccttcgatggcactttcctgtggaagatcaccaatgtcaccaggcggtgccatgagtcggcctgtggcaggaccgtcagcctcttctccccagccttctacactgccaagtatggctacaagttgtgcctgcggctgtacctgaatggagatggcactggaaagagaacccatctgtcgctcttcatcgtgatcatgagaggggagtatgatgcgctgctgccgtggcccttccggaacaaggtcaccttcatgctgctggaccagaacaaccgtgagcacgccattgacgccttccggcctgacctaagctcagcgtccttccagaggccccagagtgaaaccaacgtggccagtggatgcccactcttcttccccctcagcaaactgcagtcacccaagcacgcctacgtgaaggacgacacaatgttcctcaagtgcattgtggagaccagcacttagggtgggcggggctcctgagggagctccaactcagaagggagctagccagaggactgtgatgccctgcccttggcacccaagacctcagggcacaaagatgggtgaaggctggcatgatccaagcaagactgaggggtcgacttcgggctggccatctggttaggatggcaggacgtgggctgggcccacaaaggcaaagggtccagaaggagacaggcagagctgctcccctctgcacggaccatgcgacactgggaggccagtgagccactccggccccgaatgttgaggtggactctcaccaaatgagaagaaaatggaaccaggcttggaaccgtaggacccaagcagagaagctctcgggctaggaagatctctgcagggccgccagggagacctggacacaggcctgctctctttttctccagggtcagaaacaggaccgggtggaagggatggggtgccagtttgaatgcagtctgtccaggctcgtcattggaggtgaacaagcaaacccagacggctccactaggacttcaaattgggggttggatttgaagacttttaagtttccttccagcccagaaagtctctcattctaggcctcctggcccaggtgagtcctagagctacaggggttctggaaacattcaggagcttcctgtcctcccagctcctcactcaccttcagtaacccccactggactgacctggtccacagggcacctgccaccctgggcctggcagctcagcttccccaacacgcaggagcacacccagcccccacatcctgtgcctccatcagctaaacaccacgtcacttcatgcaggtgaaacccagtcactgtgagctcccaggtgcagccagaggcacctcaagaagaagaggggcataaactttcctcttcctgcctagaggccccacctttggtgctttccagaatcccgtaacacctgattaactgaggcatccacttctttcagcagactgatcaggacctccaagccactgagcaatgtataaccccaaagaaataatttttagaatctctttcgaagttttcctaaagtgtatggtttgggagttgtttgtactgagccaggtttgaaaaggccattgctgagtttgaggtggtgccaccagttttgcaggtggcatcagaggctggcatgctggcaggaacatcccctcttagccccagtcttctcttttctataatgagacccaccccagcttgcctccctccctggcttctctgaccctcaaaggagatgccacgcaggacagactggagagagaagcctgggcaatactgcccgcctgtcatggcctggtggtggcccacacctatcttctcaccttggaggccacacccaactttccaaagaccctgagacaagtcaggaccctactactctcccctgctgctttcctgacagcttactcttcctccacctgctgagcctgtgccagactccattgctcaaatcgttagggttgcttctataaaaatgggtcagtagcccttcctgttctctccagcccagcatacaggaggatcaaaggaggtgacggagcatcgtggcacggcagtctcaatgggtcagaaacccaggccagctgggctctaagcctggcatcctgtcatgcttagtccttcagctgaagatcagaggaagcctctcccttgccctctccagctctaggggttttcaggaggcccaactgcaataatggagcactagtgcttttatgtgcaatggtgtcgtccatgcacgacagcagcaaacattctggggctgctttttattgttcccacggctgacagcgtggcagcggagactgtggaggcagtggagactgacttcttcctgctgacagctggatgtcacacatgaaggtctggcctagcgagtgatgggtctaggccctgaaactgatgtcctagcaataacctcttgatccctactcaccgagtgttgagcccaaggggggatttgtagaacaagcccccatgagaaacagctgttactctacacttttgattgcctatttctgatggcaagagatacatactctcttcaaagagcatgagatgcagccattctttcagcaaagcttcattgacacctgcacctgttaactgtgttcgacattgaagggagaaaggcaagatgtgcactctggactcaagaaactcttagttcagtggaggaaatgagcagataagtagatcattatgattgagagtaggagaagcttagagaaagcacagaatcccagatccagctggtgaaggagggaaggcttcaggcctttaagctcagcctgagaatattgtgaaatgcagaggatggggaaaagggaagagtaccgacttgaaaacggagagctgtcttggctgagggcagggtctgtgtggcaggatgggggagggagtcagaagggtcagatgaactggagtgtagacagcatcagatgcagcagtgcccaccgcccccccccccaccccccgccctgcccacagagcacctgctggtaaccctgggcctattgaaagcaggatgagatgataatttaagacactgaatgatttcttttccaacaaagctctatgttaagtgca
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ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:7185 -> Molecular function: GO:0005515 [protein binding] evidence: IPI GeneID:7185 -> Molecular function: GO:0008270 [zinc ion binding] evidence: IEA GeneID:7185 -> Molecular function: GO:0031625 [ubiquitin protein ligase binding] evidence: IPI GeneID:7185 -> Molecular function: GO:0031996 [thioesterase binding] evidence: IPI GeneID:7185 -> Biological process: GO:0006461 [protein complex assembly] evidence: TAS GeneID:7185 -> Biological process: GO:0006915 [apoptotic process] evidence: IEA GeneID:7185 -> Biological process: GO:0007165 [signal transduction] evidence: IEA GeneID:7185 -> Biological process: GO:0043123 [positive regulation of I-kappaB kinase/NF-kappaB cascade] evidence: RCA GeneID:7185 -> Biological process: GO:0051092 [positive regulation of NF-kappaB transcription factor activity] evidence: IDA GeneID:7185 -> Biological process: GO:2001236 [regulation of extrinsic apoptotic signaling pathway] evidence: IDA GeneID:7185 -> Cellular component: GO:0005737 [cytoplasm] evidence: TAS
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