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2024-04-26 07:35:01, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001190945 4303 bp mRNA linear PRI 19-MAY-2013
DEFINITION Homo sapiens TNF receptor-associated factor 1 (TRAF1), transcript
variant 2, mRNA.
ACCESSION NM_001190945
VERSION NM_001190945.1 GI:300193044
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 4303)
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 4303)
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 4303)
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 4303)
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 4303)
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 4303)
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 4303)
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 4303)
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 4303)
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 4303)
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 AK315476.1, U19261.1 and
AC006430.22.
This sequence is a reference standard in the RefSeqGene project.
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 (2) differs in the 5' UTR compared
to isoform 1. 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 :: AK315476.1 [ECO:0000332]
RNAseq introns :: mixed/partial sample support
ERS025084, ERS025088 [ECO:0000350]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-1444 AK315476.1 29-1472
1445-2278 U19261.1 1095-1928
2279-4303 AC006430.22 16475-18499 c
FEATURES Location/Qualifiers
source 1..4303
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="9"
/map="9q33-q34"
gene 1..4303
/gene="TRAF1"
/gene_synonym="EBI6; MGC:10353"
/note="TNF receptor-associated factor 1"
/db_xref="GeneID:7185"
/db_xref="HGNC:12031"
/db_xref="MIM:601711"
exon 1..60
/gene="TRAF1"
/gene_synonym="EBI6; MGC:10353"
/inference="alignment:Splign:1.39.8"
exon 61..199
/gene="TRAF1"
/gene_synonym="EBI6; MGC:10353"
/inference="alignment:Splign:1.39.8"
exon 200..565
/gene="TRAF1"
/gene_synonym="EBI6; MGC:10353"
/inference="alignment:Splign:1.39.8"
misc_feature 309..311
/gene="TRAF1"
/gene_synonym="EBI6; MGC:10353"
/note="upstream in-frame stop codon"
CDS 426..1676
/gene="TRAF1"
/gene_synonym="EBI6; MGC:10353"
/note="isoform a is encoded by transcript variant 2;
Epstein-Bar virus-induced protein 6"
/codon_start=1
/product="TNF receptor-associated factor 1 isoform a"
/protein_id="NP_001177874.1"
/db_xref="GI:300193045"
/db_xref="CCDS:CCDS6825.1"
/db_xref="GeneID:7185"
/db_xref="HGNC:12031"
/db_xref="MIM:601711"
/translation="
MASSSGSSPRPAPDENEFPFGCPPTVCQDPKEPRALCCAGCLSENPRNGEDQICPKCRGEDLQSISPGSRLRTQEKAHPEVAEAGIGCPFAGVGCSFKGSPQSVQEHEVTSQTSHLNLLLGFMKQWKARLGCGLESGPMALEQNLSDLQLQAAVEVAGDLEVDCYRAPCSESQEELALQHFMKEKLLAELEGKLRVFENIVAVLNKEVEASHLALATSIHQSQLDRERILSLEQRVVELQQTLAQKDQALGKLEQSLRLMEEASFDGTFLWKITNVTRRCHESACGRTVSLFSPAFYTAKYGYKLCLRLYLNGDGTGKRTHLSLFIVIMRGEYDALLPWPFRNKVTFMLLDQNNREHAIDAFRPDLSSASFQRPQSETNVASGCPLFFPLSKLQSPKHAYVKDDTMFLKCIVETST
"
misc_feature 912..917
/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 1224..1664
/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(1233..1235,1239..1241,1323..1328,1419..1421,
1428..1430,1479..1481)
/gene="TRAF1"
/gene_synonym="EBI6; MGC:10353"
/note="trimer interface [polypeptide binding]; other site"
/db_xref="CDD:58110"
misc_feature order(1347..1349,1353..1355,1365..1367,1398..1400,
1509..1514,1563..1574)
/gene="TRAF1"
/gene_synonym="EBI6; MGC:10353"
/note="TNFR binding site; other site"
/db_xref="CDD:58110"
misc_feature order(1371..1373,1386..1388,1503..1505,1512..1520,
1527..1532,1536..1538,1569..1574,1590..1592)
/gene="TRAF1"
/gene_synonym="EBI6; MGC:10353"
/note="putative TRADD binding site [polypeptide binding];
other site"
/db_xref="CDD:58110"
exon 566..653
/gene="TRAF1"
/gene_synonym="EBI6; MGC:10353"
/inference="alignment:Splign:1.39.8"
exon 654..719
/gene="TRAF1"
/gene_synonym="EBI6; MGC:10353"
/inference="alignment:Splign:1.39.8"
exon 720..1130
/gene="TRAF1"
/gene_synonym="EBI6; MGC:10353"
/inference="alignment:Splign:1.39.8"
exon 1131..1308
/gene="TRAF1"
/gene_synonym="EBI6; MGC:10353"
/inference="alignment:Splign:1.39.8"
variation 1151
/gene="TRAF1"
/gene_synonym="EBI6; MGC:10353"
/replace="a"
/replace="c"
/db_xref="dbSNP:17848029"
exon 1309..1457
/gene="TRAF1"
/gene_synonym="EBI6; MGC:10353"
/inference="alignment:Splign:1.39.8"
exon 1458..4303
/gene="TRAF1"
/gene_synonym="EBI6; MGC:10353"
/inference="alignment:Splign:1.39.8"
STS 1711..1911
/gene="TRAF1"
/gene_synonym="EBI6; MGC:10353"
/standard_name="SGC35347"
/db_xref="UniSTS:4721"
variation 2145
/gene="TRAF1"
/gene_synonym="EBI6; MGC:10353"
/replace="c"
/replace="t"
/db_xref="dbSNP:17848033"
variation 2148
/gene="TRAF1"
/gene_synonym="EBI6; MGC:10353"
/replace="a"
/replace="t"
/db_xref="dbSNP:17848034"
STS 2493..2627
/gene="TRAF1"
/gene_synonym="EBI6; MGC:10353"
/standard_name="RH17818"
/db_xref="UniSTS:76746"
STS 2545..2678
/gene="TRAF1"
/gene_synonym="EBI6; MGC:10353"
/standard_name="RH79125"
/db_xref="UniSTS:14866"
polyA_site 2745
/gene="TRAF1"
/gene_synonym="EBI6; MGC:10353"
STS 3617..3742
/gene="TRAF1"
/gene_synonym="EBI6; MGC:10353"
/standard_name="SHGC-30554"
/db_xref="UniSTS:79885"
variation 3963
/gene="TRAF1"
/gene_synonym="EBI6; MGC:10353"
/replace="c"
/replace="g"
/db_xref="dbSNP:3196386"
variation 4178
/gene="TRAF1"
/gene_synonym="EBI6; MGC:10353"
/replace="a"
/replace="c"
/db_xref="dbSNP:1055895"
variation 4184
/gene="TRAF1"
/gene_synonym="EBI6; MGC:10353"
/replace="a"
/replace="c"
/db_xref="dbSNP:13053"
polyA_site 4303
/gene="TRAF1"
/gene_synonym="EBI6; MGC:10353"
ORIGIN
acactccaccggaagctccgggcctggccgccggtaggcggtggcggaggcggcgccgagatggagtcatcagaacccactgtgaggaagtgacttctccttgaggtcacccagacactccaaacagagcagagcaaaagcgcctagaacttgaaattttggacctgtctccaacaccctggggatttccaccaggaagccttcagtcaccatccaggggatttttatcgccacaaagggtaattcctgctccatccctgctgtgactcagctgtgacgttgaaccacacaagccagagagaagaagataaagtcatcagagctcctactcaccagagagtgaggcccaggccaggactccacaaggctggtcccctgccctggagcaacttaaacaggccctctggccagcctggaaccctgagatggcctccagctcaggcagcagtcctcgcccggcccctgatgagaatgagtttccctttgggtgccctcccaccgtctgccaggacccaaaggagcccagggctctctgctgtgcaggctgtctctctgagaacccgaggaatggcgaggatcagatctgccccaaatgcagaggggaagacctccagtctataagcccaggaagccgtcttcgaactcaggagaaggctcaccccgaggtggctgaggctggaattgggtgcccctttgcaggtgtcggctgctccttcaagggaagcccacagtctgtgcaagagcatgaggtcacctcccagacctcccacctaaacctgctgttggggttcatgaaacagtggaaggcccggctgggctgtggcctggagtctgggcccatggccctggagcagaacctgtcagacctgcagctgcaggcagccgtggaagtggcgggggacctggaggtcgattgctaccgggcaccctgctccgagagccaggaggagctggccctgcagcacttcatgaaggagaagcttctggctgagctggaggggaagctgcgtgtgtttgagaacattgttgctgtcctcaacaaggaggtggaggcctcccacctggccctggccacctctatccaccagagccagctggaccgtgagcgcatcctgagcttggagcagagggtggtggagcttcagcagaccctggcccagaaagaccaggccctgggcaagctggagcagagcttgcgcctcatggaggaggcctccttcgatggcactttcctgtggaagatcaccaatgtcaccaggcggtgccatgagtcggcctgtggcaggaccgtcagcctcttctccccagccttctacactgccaagtatggctacaagttgtgcctgcggctgtacctgaatggagatggcactggaaagagaacccatctgtcgctcttcatcgtgatcatgagaggggagtatgatgcgctgctgccgtggcccttccggaacaaggtcaccttcatgctgctggaccagaacaaccgtgagcacgccattgacgccttccggcctgacctaagctcagcgtccttccagaggccccagagtgaaaccaacgtggccagtggatgcccactcttcttccccctcagcaaactgcagtcacccaagcacgcctacgtgaaggacgacacaatgttcctcaagtgcattgtggagaccagcacttagggtgggcggggctcctgagggagctccaactcagaagggagctagccagaggactgtgatgccctgcccttggcacccaagacctcagggcacaaagatgggtgaaggctggcatgatccaagcaagactgaggggtcgacttcgggctggccatctggttaggatggcaggacgtgggctgggcccacaaaggcaaagggtccagaaggagacaggcagagctgctcccctctgcacggaccatgcgacactgggaggccagtgagccactccggccccgaatgttgaggtggactctcaccaaatgagaagaaaatggaaccaggcttggaaccgtaggacccaagcagagaagctctcgggctaggaagatctctgcagggccgccagggagacctggacacaggcctgctctctttttctccagggtcagaaacaggaccgggtggaagggatggggtgccagtttgaatgcagtctgtccaggctcgtcattggaggtgaacaagcaaacccagacggctccactaggacttcaaattgggggttggatttgaagacttttaagtttccttccagcccagaaagtctctcattctaggcctcctggcccaggtgagtcctagagctacaggggttctggaaacattcaggagcttcctgtcctcccagctcctcactcaccttcagtaacccccactggactgacctggtccacagggcacctgccaccctgggcctggcagctcagcttccccaacacgcaggagcacacccagcccccacatcctgtgcctccatcagctaaacaccacgtcacttcatgcaggtgaaacccagtcactgtgagctcccaggtgcagccagaggcacctcaagaagaagaggggcataaactttcctcttcctgcctagaggccccacctttggtgctttccagaatcccgtaacacctgattaactgaggcatccacttctttcagcagactgatcaggacctccaagccactgagcaatgtataaccccaaagaaataatttttagaatctctttcgaagttttcctaaagtgtatggtttgggagttgtttgtactgagccaggtttgaaaaggccattgctgagtttgaggtggtgccaccagttttgcaggtggcatcagaggctggcatgctggcaggaacatcccctcttagccccagtcttctcttttctataatgagacccaccccagcttgcctccctccctggcttctctgaccctcaaaggagatgccacgcaggacagactggagagagaagcctgggcaatactgcccgcctgtcatggcctggtggtggcccacacctatcttctcaccttggaggccacacccaactttccaaagaccctgagacaagtcaggaccctactactctcccctgctgctttcctgacagcttactcttcctccacctgctgagcctgtgccagactccattgctcaaatcgttagggttgcttctataaaaatgggtcagtagcccttcctgttctctccagcccagcatacaggaggatcaaaggaggtgacggagcatcgtggcacggcagtctcaatgggtcagaaacccaggccagctgggctctaagcctggcatcctgtcatgcttagtccttcagctgaagatcagaggaagcctctcccttgccctctccagctctaggggttttcaggaggcccaactgcaataatggagcactagtgcttttatgtgcaatggtgtcgtccatgcacgacagcagcaaacattctggggctgctttttattgttcccacggctgacagcgtggcagcggagactgtggaggcagtggagactgacttcttcctgctgacagctggatgtcacacatgaaggtctggcctagcgagtgatgggtctaggccctgaaactgatgtcctagcaataacctcttgatccctactcaccgagtgttgagcccaaggggggatttgtagaacaagcccccatgagaaacagctgttactctacacttttgattgcctatttctgatggcaagagatacatactctcttcaaagagcatgagatgcagccattctttcagcaaagcttcattgacacctgcacctgttaactgtgttcgacattgaagggagaaaggcaagatgtgcactctggactcaagaaactcttagttcagtggaggaaatgagcagataagtagatcattatgattgagagtaggagaagcttagagaaagcacagaatcccagatccagctggtgaaggagggaaggcttcaggcctttaagctcagcctgagaatattgtgaaatgcagaggatggggaaaagggaagagtaccgacttgaaaacggagagctgtcttggctgagggcagggtctgtgtggcaggatgggggagggagtcagaagggtcagatgaactggagtgtagacagcatcagatgcagcagtgcccaccgcccccccccccaccccccgccctgcccacagagcacctgctggtaaccctgggcctattgaaagcaggatgagatgataatttaagacactgaatgatttcttttccaacaaagctctatgttaagtgca
//
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
by
@meso_cacase at
DBCLS
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