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TANK TRAF family member associated NFKB activator [ Homo sapiens (human) ]

Gene ID: 10010, updated on 26-Nov-2021

Summary

Official Symbol
TANKprovided by HGNC
Official Full Name
TRAF family member associated NFKB activatorprovided by HGNC
Primary source
HGNC:HGNC:11562
See related
Ensembl:ENSG00000136560 MIM:603893
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
ITRAF; TRAF2; I-TRAF
Summary
The TRAF (tumor necrosis factor receptor-associated factor) family of proteins associate with and transduce signals from members of the tumor necrosis factor receptor superfamily. The protein encoded by this gene is found in the cytoplasm and can bind to TRAF1, TRAF2, or TRAF3, thereby inhibiting TRAF function by sequestering the TRAFs in a latent state in the cytoplasm. For example, the protein encoded by this gene can block TRAF2 binding to LMP1, the Epstein-Barr virus transforming protein, and inhibit LMP1-mediated NF-kappa-B activation. Three alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]
Expression
Ubiquitous expression in appendix (RPKM 16.5), lymph node (RPKM 16.3) and 25 other tissues See more
Orthologs
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Genomic context

See TANK in Genome Data Viewer
Location:
2q24.2
Exon count:
14
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (161136963..161236230)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (161993474..162092741)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene DEAD-box helicase 18 pseudogene Neighboring gene TANK antisense RNA 1 Neighboring gene Sharpr-MPRA regulatory region 6450 Neighboring gene uncharacterized LOC101929512 Neighboring gene VISTA enhancer hs416 Neighboring gene long intergenic non-protein coding RNA 1806

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Beyond single-marker analyses: mining whole genome scans for insights into treatment responses in severe sepsis.
GeneReviews: Not available
Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.
GeneReviews: Not available
Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
GeneReviews: Not available
Genome-wide association study of antiphospholipid antibodies.
GeneReviews: Not available
Genome-wide association study of peripheral neuropathy with D-drug-containing regimens in AIDS Clinical Trials Group protocol 384.
GeneReviews: Not available
GWAS of 126,559 individuals identifies genetic variants associated with educational attainment.
GeneReviews: Not available
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
GeneReviews: Not available
Novel locus including FGF21 is associated with dietary macronutrient intake.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables deubiquitinase activator activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
contributes_to thiol-dependent deubiquitinase IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables ubiquitin protein ligase binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
located_in cytosol IDA
Inferred from Direct Assay
more info
 
located_in cytosol TAS
Traceable Author Statement
more info
 
part_of protein-containing complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
TRAF family member-associated NF-kappa-B activator
Names
TRAF-interacting protein

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.

mRNA and Protein(s)

  1. NM_001199135.3NP_001186064.1  TRAF family member-associated NF-kappa-B activator isoform a

    See identical proteins and their annotated locations for NP_001186064.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) has an alternate 5' UTR exon compared to variant 1. Variants 1 and 2 encode the same isoform (a).
    Source sequence(s)
    AC009299, AC009313
    Consensus CDS
    CCDS2215.1
    UniProtKB/Swiss-Prot
    Q92844
    UniProtKB/TrEMBL
    B2R7S3, Q6NW12
    Related
    ENSP00000376505.2, ENST00000392749.7
    Conserved Domains (1) summary
    pfam12845
    Location:135186
    TBD; TBD domain
  2. NM_004180.3NP_004171.2  TRAF family member-associated NF-kappa-B activator isoform a

    See identical proteins and their annotated locations for NP_004171.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) is the longer transcript and encodes the longer isoform (a).
    Source sequence(s)
    AC009299, AC009313
    Consensus CDS
    CCDS2215.1
    UniProtKB/Swiss-Prot
    Q92844
    Related
    ENSP00000259075.2, ENST00000259075.6
    Conserved Domains (1) summary
    pfam12845
    Location:135186
    TBD; TBD domain
  3. NM_133484.2NP_597841.1  TRAF family member-associated NF-kappa-B activator isoform b

    See identical proteins and their annotated locations for NP_597841.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks multiple exons from the 3' end and contains an alternate 3' segment compared to variant 1. The resulting isoform (b) has a shorter and distinct C-terminus, as compared to isoform (a).
    Source sequence(s)
    AC009299, AC009313
    Consensus CDS
    CCDS46436.1
    UniProtKB/Swiss-Prot
    Q92844
    Related
    ENSP00000385983.1, ENST00000403609.1

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    161136963..161236230
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024452337.1XP_024308105.1  TRAF family member-associated NF-kappa-B activator isoform X7

    Conserved Domains (1) summary
    pfam12845
    Location:133
    TBD; TBD domain
  2. XM_017003094.1XP_016858583.1  TRAF family member-associated NF-kappa-B activator isoform X3

  3. XM_017003095.1XP_016858584.1  TRAF family member-associated NF-kappa-B activator isoform X5

  4. XM_017003097.1XP_016858586.1  TRAF family member-associated NF-kappa-B activator isoform X6

    UniProtKB/Swiss-Prot
    Q92844
    Conserved Domains (1) summary
    pfam12845
    Location:135186
    TBD; TBD domain
  5. XM_017003093.1XP_016858582.1  TRAF family member-associated NF-kappa-B activator isoform X2

    Conserved Domains (1) summary
    pfam12845
    Location:193244
    TBD; TBD domain
  6. XM_024452335.1XP_024308103.1  TRAF family member-associated NF-kappa-B activator isoform X4

    Conserved Domains (1) summary
    pfam12845
    Location:164215
    TBD; TBD domain
  7. XM_017003096.1XP_016858585.1  TRAF family member-associated NF-kappa-B activator isoform X6

    UniProtKB/Swiss-Prot
    Q92844
    Related
    ENSP00000385487.1, ENST00000405852.5
    Conserved Domains (1) summary
    pfam12845
    Location:135186
    TBD; TBD domain
  8. XM_024452333.1XP_024308101.1  TRAF family member-associated NF-kappa-B activator isoform X2

    Conserved Domains (1) summary
    pfam12845
    Location:193244
    TBD; TBD domain
  9. XM_005246207.3XP_005246264.2  TRAF family member-associated NF-kappa-B activator isoform X1

    See identical proteins and their annotated locations for XP_005246264.2

    Conserved Domains (1) summary
    pfam12845
    Location:161212
    TBD; TBD domain
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