TRAF1 TNF receptor associated factor 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: TRAF1provided by HGNC
Official Full Name: TNF receptor associated factor 1provided by HGNC
Primary source: HGNC:HGNC:12031
See related: Ensembl:ENSG00000056558 MIM:601711; AllianceGenome:HGNC:12031
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: EBI6; MGC:10353
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]
Expression: Broad expression in lymph node (RPKM 17.6), appendix (RPKM 12.6) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 9q33.2

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (120902393..120929171, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (133098529..133125751, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (123664671..123691449, complement)

Chromosome 9 - NC_000009.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Lower levels of TRAF1 in Brodmann's area 24, but not 46, in bipolar disorders are not detectable in major depressive disorders.
Title: Lower levels of TRAF1 in Brodmann's area 24, but not 46, in bipolar disorders are not detectable in major depressive disorders.
Association between TRAF1/C5 Gene Polymorphisms and IgA Vasculitis in Chinese Children.
Title: Association between TRAF1/C5 Gene Polymorphisms and IgA Vasculitis in Chinese Children.
Cutting Edge: Negative Regulation of Inflammasome Activation by TRAF1 Can Limit Gout.
Title: Cutting Edge: Negative Regulation of Inflammasome Activation by TRAF1 Can Limit Gout.
Knockdown of circ_0038467 alleviates lipopolysaccharides-induced 16HBE cell injury by regulating the miR-545-3p/TRAF1 axis in neonatal pneumonia.
Title: Knockdown of circ_0038467 alleviates lipopolysaccharides-induced 16HBE cell injury by regulating the miR-545-3p/TRAF1 axis in neonatal pneumonia.
N(6)-methyladenosine-modified TRAF1 promotes sunitinib resistance by regulating apoptosis and angiogenesis in a METTL14-dependent manner in renal cell carcinoma.
Title: N(6)-methyladenosine-modified TRAF1 promotes sunitinib resistance by regulating apoptosis and angiogenesis in a METTL14-dependent manner in renal cell carcinoma.
FXR1 can bind with the CFIm25/CFIm68 complex and promote the progression of urothelial carcinoma of the bladder by stabilizing TRAF1 mRNA.
Title: FXR1 can bind with the CFIm25/CFIm68 complex and promote the progression of urothelial carcinoma of the bladder by stabilizing TRAF1 mRNA.
A genetic variant in the TRAF1/C5 gene lead susceptibility to active pulmonary tuberculosis by decreased TNF-alpha levels.
Title: A genetic variant in the TRAF1/C5 gene lead susceptibility to active pulmonary tuberculosis by decreased TNF-α levels.
TRAF1 suppresses antifungal immunity through CXCL1-mediated neutrophil recruitment during Candida albicans intradermal infection.
Title: TRAF1 suppresses antifungal immunity through CXCL1-mediated neutrophil recruitment during Candida albicans intradermal infection.
Weighted gene co-expression network analysis identifies RHOH and TRAF1 as key candidate genes for psoriatic arthritis.
Title: Weighted gene co-expression network analysis identifies RHOH and TRAF1 as key candidate genes for psoriatic arthritis.
TRAF4, a new substrate of SIAH1, participates in chemotherapy resistance of breast cancer cell by counteracting SIAH1-mediated downregulation of beta-catenin.
Title: TRAF4, a new substrate of SIAH1, participates in chemotherapy resistance of breast cancer cell by counteracting SIAH1-mediated downregulation of β-catenin.

Submit: New GeneRIF Correction See all GeneRIFs (90)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genetics of rheumatoid arthritis contributes to biology and drug discovery. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
Meta-analysis of genome-wide association studies in celiac disease and rheumatoid arthritis identifies fourteen non-HLA shared loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
Novel risk loci for rheumatoid arthritis in Han Chinese and congruence with risk variants in Europeans. EBI GWAS Catalog EBI GWAS CatalogPubMed
REL, encoding a member of the NF-kappaB family of transcription factors, is a newly defined risk locus for rheumatoid arthritis. EBI GWAS Catalog EBI GWAS CatalogPubMed
TRAF1-C5 as a risk locus for rheumatoid arthritis--a genomewide study. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Vif	vif	HIV-1 Vif upregulates the expression of TNF receptor-associated factor 1 (TRAF1) in Vif-expression T cells	PubMed
Vpr	vpr	HIV-1 Vpr-mediated CASP8 (caspase 8) activation is mediated by TRAF-1 in THP-1 cells	PubMed
Vpu	vpu	Levels of TRAF1 are reduced in T cells as a result of HIV-1 Vpu-mediated inhibition of NF-kappa B activation	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-30554 (e-PCR)
- UniSTS:79885

RH79125 (e-PCR)
- UniSTS:14866

SGC35347 (e-PCR)
- UniSTS:4721

RH94100 (e-PCR)
- UniSTS:83833

RH17818 (e-PCR)
- UniSTS:76746

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables signaling adaptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables thioesterase binding	IPI Inferred from Physical Interaction more info	PubMed
enables tumor necrosis factor receptor binding	IBA Inferred from Biological aspect of Ancestor more info
enables tumor necrosis factor receptor binding	IPI Inferred from Physical Interaction more info	PubMed
enables ubiquitin protein ligase binding	IPI Inferred from Physical Interaction more info	PubMed
enables zinc ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of NF-kappaB transcription factor activity	IDA Inferred from Direct Assay more info	PubMed
involved_in protein-containing complex assembly	TAS Traceable Author Statement more info	PubMed
involved_in regulation of canonical NF-kappaB signal transduction	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of extrinsic apoptotic signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in tumor necrosis factor-mediated signaling pathway	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	TAS Traceable Author Statement more info
part_of plasma membrane signaling receptor complex	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: TNF receptor-associated factor 1

Names: Epstein-Bar virus-induced protein 6

NP_001177874.1

EC 2.3.2.27

NP_001177876.1

EC 2.3.2.27

NP_005649.1

EC 2.3.2.27

XP_054219687.1

EC 2.3.2.27

XP_054219688.1

EC 2.3.2.27

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_023346.1 RefSeqGene

Range

7378..31781

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001190945.2 → NP_001177874.1 TNF receptor-associated factor 1 isoform a

See identical proteins and their annotated locations for NP_001177874.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to isoform 1. Variants 1 and 2 both encode the same isoform (a).

Source sequence(s)

AC006430, AK315476, U19261

Consensus CDS

CCDS6825.1

UniProtKB/Swiss-Prot

B4DJ77, Q13077, Q658U1, Q8NF13

Related

ENSP00000443183.1, ENST00000540010.1

Conserved Domains (3) summary

cd03779
Location:267 → 413

MATH_TRAF1; 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 ...

pfam16673
Location:184 → 244

TRAF_BIRC3_bd; TNF receptor-associated factor BIRC3 binding domain

cl25732
Location:140 → 263

SMC_N; RecF/RecN/SMC N terminal domain
NM_001190947.2 → NP_001177876.1 TNF receptor-associated factor 1 isoform b

See identical proteins and their annotated locations for NP_001177876.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (b) is shorter at the N-terminus compared to isoform a.

Source sequence(s)

AC006430, AK295959, U19261

Consensus CDS

CCDS55335.1

UniProtKB/Swiss-Prot

Q13077

Related

ENSP00000438583.1, ENST00000546084.5

Conserved Domains (2) summary

cd03779
Location:145 → 291

MATH_TRAF1; 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 ...

pfam16673
Location:62 → 122

TRAF_BIRC3_bd; TNF receptor-associated factor BIRC3 binding domain
NM_005658.5 → NP_005649.1 TNF receptor-associated factor 1 isoform a

See identical proteins and their annotated locations for NP_005649.1

Status: REVIEWED

Description

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).

Source sequence(s)

AC006430, AK315476, AL832989, U19261

Consensus CDS

CCDS6825.1

UniProtKB/Swiss-Prot

B4DJ77, Q13077, Q658U1, Q8NF13

Related

ENSP00000362994.3, ENST00000373887.8

Conserved Domains (3) summary

cd03779
Location:267 → 413

MATH_TRAF1; 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 ...

pfam16673
Location:184 → 244

TRAF_BIRC3_bd; TNF receptor-associated factor BIRC3 binding domain

cl25732
Location:140 → 263

SMC_N; RecF/RecN/SMC N terminal domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000009.12 Reference GRCh38.p14 Primary Assembly

Range

120902393..120929171 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060933.1 Alternate T2T-CHM13v2.0

Range

133098529..133125751 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054363712.1 → XP_054219687.1 TNF receptor-associated factor 1 isoform X1

UniProtKB/Swiss-Prot

B4DJ77, Q13077, Q658U1, Q8NF13
XM_054363713.1 → XP_054219688.1 TNF receptor-associated factor 1 isoform X1

UniProtKB/Swiss-Prot

B4DJ77, Q13077, Q658U1, Q8NF13