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

    Gene ID: 8887, updated on 19-Sep-2024

    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; AllianceGenome:HGNC:11575
    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
    NEW
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    Try the new Transcript table

    Genomic context

    See TAX1BP1 in Genome Data Viewer
    Location:
    7p15.2
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (27739373..27829767)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (27875789..27967476)
    RS_2024_09 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 MPRA-validated peak6451 silencer Neighboring gene uncharacterized LOC105375211 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:27702239-27703056 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr7:27717219-27718418 Neighboring gene Sharpr-MPRA regulatory region 14722 Neighboring gene testis-expressed, seven-twelve, leukemia Neighboring gene MPRA-validated peak6452 silencer Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr7:27780579-27781442 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:27779716-27780578 Neighboring gene TAX1BP1 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:27903667-27904167 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr7:27907318-27908517 Neighboring gene JAZF zinc finger 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25793 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:28021142-28022341 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr7:28027281-28027840 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr7:28076521-28077720 Neighboring gene uncharacterized LOC105375208 Neighboring gene VISTA enhancer hs1430 Neighboring gene RNA, U6 small nuclear 979, pseudogene

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables kinase binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein-macromolecule adaptor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in autophagosome IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytoplasmic vesicle IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in extracellular exosome HDA PubMed 
    is_active_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in phagophore assembly site IEA
    Inferred from Electronic Annotation
    more info
     

    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)

    NEW Try the new Transcript table

    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
      5790..95395
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001079864.3NP_001073333.1  tax1-binding protein 1 isoform 2

      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, DC424592
      Consensus CDS
      CCDS43561.1
      UniProtKB/TrEMBL
      B4DSG5
      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

      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/TrEMBL
      B4DSG5
      Related
      ENSP00000444811.1, ENST00000543117.5
      Conserved Domains (1) summary
      cl25732
      Location:17460
      SMC_N; RecF/RecN/SMC N terminal domain
    3. NM_001206902.2NP_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, 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_001362794.2NP_001349723.1  tax1-binding protein 1 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AI580161, AI650286, BP208089, BU680065, CA418315, CB138720, DA176922, DB169908, DC357536
      UniProtKB/TrEMBL
      B4DSG5
      Conserved Domains (1) summary
      cl25732
      Location:17460
      SMC_N; RecF/RecN/SMC N terminal domain
    5. NM_001362795.2NP_001349724.1  tax1-binding protein 1 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AA100874, AI650286, BP208089, BU680065, CA418315, CB138720, DA176922, DB169908, DC357536
      UniProtKB/TrEMBL
      B4DSG5
      Conserved Domains (1) summary
      cl25732
      Location:17460
      SMC_N; RecF/RecN/SMC N terminal domain
    6. NM_006024.7NP_006015.4  tax1-binding protein 1 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AL136586, BU679319, DC424592
      Consensus CDS
      CCDS5415.1
      UniProtKB/Swiss-Prot
      A4D196, B4DKU7, E7ENV2, O60398, O95770, Q13311, Q86VP1, Q9BQG5, Q9UI88
      UniProtKB/TrEMBL
      B8ZZD4
      Related
      ENSP00000379612.2, ENST00000396319.7
      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: 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

    1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      27875789..27967476
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)