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TAX1BP1 Tax1 binding protein 1 [ Homo sapiens (human) ]

Gene ID: 8887, updated on 6-Oct-2019

Summary

Official Symbol
TAX1BP1provided by HGNC
Official Full Name
Tax1 binding protein 1provided by HGNC
Primary source
HGNC:HGNC:11575
See related
Ensembl:ENSG00000106052 MIM:605326
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
T6BP; TXBP151; CALCOCO3
Summary
This gene encodes a HTLV-1 tax1 binding protein. The encoded protein interacts with TNFAIP3, and inhibits TNF-induced apoptosis by mediating the TNFAIP3 anti-apoptotic activity. Degradation of this protein by caspase-3-like family proteins is associated with apoptosis induced by TNF. This protein may also have a role in the inhibition of inflammatory signaling pathways. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2011]
Expression
Ubiquitous expression in adrenal (RPKM 48.4), thyroid (RPKM 48.2) and 25 other tissues See more
Orthologs

Genomic context

See TAX1BP1 in Genome Data Viewer
Location:
7p15.2
Exon count:
18
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (27739373..27829767)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (27778992..27869386)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene 3-hydroxyisobutyrate dehydrogenase Neighboring gene uncharacterized LOC105375211 Neighboring gene testis-expressed, seven-twelve, leukemia Neighboring gene uncharacterized LOC105375210 Neighboring gene JAZF zinc finger 1 Neighboring gene uncharacterized LOC105375208 Neighboring gene VISTA enhancer hs1430

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

NHGRI GWAS Catalog

Description
Genome-wide association analyses identify variants in developmental genes associated with hypospadias.
NHGRI GWA Catalog

Pathways from BioSystems

  • Death Receptor Signalling, organism-specific biosystem (from REACTOME)
    Death Receptor Signalling, organism-specific biosystemThe death receptors, all cell-surface receptors, begin the process of caspase activation. The common feature of these type 1 transmembrane proteins is the "death-domain" a conserved cytoplasmic motif...
  • Immune System, organism-specific biosystem (from REACTOME)
    Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
  • Innate Immune System, organism-specific biosystem (from REACTOME)
    Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
  • Mitophagy - animal, organism-specific biosystem (from KEGG)
    Mitophagy - animal, organism-specific biosystemMitochondria act as the energy powerhouse of the cell, and are essential for eukaryotic cells to grow and function normally. However, deleterious byproducts of oxidative phosphorylation process calle...
  • Mitophagy - animal, conserved biosystem (from KEGG)
    Mitophagy - animal, conserved biosystemMitochondria act as the energy powerhouse of the cell, and are essential for eukaryotic cells to grow and function normally. However, deleterious byproducts of oxidative phosphorylation process calle...
  • Negative regulators of RIG-I/MDA5 signaling, organism-specific biosystem (from REACTOME)
    Negative regulators of RIG-I/MDA5 signaling, organism-specific biosystemAs with other cytokine systems, production of type I IFN is a transient process, and can be hazardous to the host if unregulated, resulting in chronic cellular toxicity or inflammatory and autoimmune...
  • RIG-I/MDA5 mediated induction of IFN-alpha/beta pathways, organism-specific biosystem (from REACTOME)
    RIG-I/MDA5 mediated induction of IFN-alpha/beta pathways, organism-specific biosystemRIG-I-like helicases (RLHs) the retinoic acid inducible gene-I (RIG-I) and melanoma differentiation associated gene 5 (MDA5) are RNA helicases that recognize viral RNA present within the cytoplasm. F...
  • Regulation of TNFR1 signaling, organism-specific biosystem (from REACTOME)
    Regulation of TNFR1 signaling, organism-specific biosystemTumor necrosis factor-alpha (TNFalpha) is an inflammatory cytokine, that activates either cell survival (e.g.,inflammation, proliferation) or cell death upon association with TNF receptor 1 (TNFR1). ...
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • TNF signaling, organism-specific biosystem (from REACTOME)
    TNF signaling, organism-specific biosystemThe inflammatory cytokine tumor necrosis factor alpha (TNF-alpha) is expressed in immune and nonimmune cell types including macrophages, T cells, mast cells, granulocytes, natural killer (NK) cells, ...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
kinase binding ISS
Inferred from Sequence or Structural Similarity
more info
 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
apoptotic process IEA
Inferred from Electronic Annotation
more info
 
negative regulation of NF-kappaB transcription factor activity ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of apoptotic process IEA
Inferred from Electronic Annotation
more info
 
negative regulation of type I interferon production TAS
Traceable Author Statement
more info
 
regulation of tumor necrosis factor-mediated signaling pathway TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 
extracellular exosome HDA PubMed 

General protein information

Preferred Names
tax1-binding protein 1
Names
TRAF6-binding protein
Tax1 (human T-cell leukemia virus type I) binding protein 1

NCBI Reference Sequences (RefSeq)

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

  1. NG_029523.1 RefSeqGene

    Range
    5001..95395
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001079864.2NP_001073333.1  tax1-binding protein 1 isoform 2

    See identical proteins and their annotated locations for NP_001073333.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame donor splice site at an internal coding exon compared to variant 1. This results in a shorter isoform (2, also known as TXBP151-L) missing an internal protein segment compared to isoform 1. Variants 2 and 3 encode the same isoform.
    Source sequence(s)
    AF090891, AL136586, BU679319, DB455556, DC424592
    Consensus CDS
    CCDS43561.1
    UniProtKB/Swiss-Prot
    Q86VP1
    Related
    ENSP00000265393.6, ENST00000265393.10
    Conserved Domains (1) summary
    cl25732
    Location:17460
    SMC_N; RecF/RecN/SMC N terminal domain
  2. NM_001206901.1NP_001193830.1  tax1-binding protein 1 isoform 2

    See identical proteins and their annotated locations for NP_001193830.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) contains an alternate 5' non-coding exon, and uses an alternate in-frame donor splice site at an internal coding exon compared to variant 1. This results in a shorter isoform (2, also known as TXBP151-L) missing an internal protein segment compared to isoform 1. Variants 2 and 3 encode the same isoform.
    Source sequence(s)
    AF090891, AK299729, AL136586, BU679319
    Consensus CDS
    CCDS43561.1
    UniProtKB/Swiss-Prot
    Q86VP1
    UniProtKB/TrEMBL
    B4DSG5
    Related
    ENSP00000444811.1, ENST00000543117.5
    Conserved Domains (1) summary
    cl25732
    Location:17460
    SMC_N; RecF/RecN/SMC N terminal domain
  3. NM_001206902.1NP_001193831.1  tax1-binding protein 1 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) is missing an internal coding exon compared to variant 1. This results in the creation of an upstream ORF (uORF), translation of which will render this transcript a candidate for nonsense-mediated mRNA decay (NMD). However, since the uORF has a weak Kozak signal, translation from an in-frame downstream AUG is possible by leaky scanning, resulting in an isoform (3) with a shorter N-terminus and missing an internal protein segment compared to isoform 1.
    Source sequence(s)
    AF090891, AL136586, BU679319, DB455556, DC424592
    Consensus CDS
    CCDS56471.1
    UniProtKB/Swiss-Prot
    Q86VP1
    Related
    ENSP00000391907.2, ENST00000433216.6
    Conserved Domains (1) summary
    cl23720
    Location:14104
    RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)
  4. NM_001362794.1NP_001349723.1  tax1-binding protein 1 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC005091, AI580161, AI650286, BP208089, BU680065, CA418315, CB138720, DA176922, DB169908, DC357536
    Conserved Domains (1) summary
    cl25732
    Location:17460
    SMC_N; RecF/RecN/SMC N terminal domain
  5. NM_001362795.1NP_001349724.1  tax1-binding protein 1 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AA100874, AC005091, AI650286, BP208089, BU680065, CA418315, CB138720, DA176922, DB169908, DC357536
    Conserved Domains (1) summary
    cl25732
    Location:17460
    SMC_N; RecF/RecN/SMC N terminal domain
  6. NM_006024.6NP_006015.4  tax1-binding protein 1 isoform 1

    See identical proteins and their annotated locations for NP_006015.4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AL136586, BU679319, DB455556, DC424592
    Consensus CDS
    CCDS5415.1
    UniProtKB/Swiss-Prot
    Q86VP1
    Related
    ENSP00000379612.2, ENST00000396319.6
    Conserved Domains (2) summary
    pfam07888
    Location:17460
    CALCOCO1; Calcium binding and coiled-coil domain (CALCOCO1) like
    cl23720
    Location:131261
    RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

    Range
    27739373..27829767
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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