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

    Gene ID: 8887, updated on 27-Nov-2024

    Summary

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    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
    mouse all
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    Genomic context

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    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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Decreased TAX1BP1 participates in systemic lupus erythematosus by regulating monocyte/macrophage function.
      Title: Decreased TAX1BP1 participates in systemic lupus erythematosus by regulating monocyte/macrophage function.
    2. TNIP1 inhibits selective autophagy via bipartite interaction with LC3/GABARAP and TAX1BP1.
      Title: TNIP1 inhibits selective autophagy via bipartite interaction with LC3/GABARAP and TAX1BP1.
    3. Galectin-8 Senses Phagosomal Damage and Recruits Selective Autophagy Adapter TAX1BP1 To Control Mycobacterium tuberculosis Infection in Macrophages.
      Title: Galectin-8 Senses Phagosomal Damage and Recruits Selective Autophagy Adapter TAX1BP1 To Control Mycobacterium tuberculosis Infection in Macrophages.
    4. FIP200 controls the TBK1 activation threshold at SQSTM1/p62-positive condensates.
      Title: FIP200 controls the TBK1 activation threshold at SQSTM1/p62-positive condensates.
    5. Reconstitution defines the roles of p62, NBR1 and TAX1BP1 in ubiquitin condensate formation and autophagy initiation.
      Title: Reconstitution defines the roles of p62, NBR1 and TAX1BP1 in ubiquitin condensate formation and autophagy initiation.
    6. Loss of TAX1BP1-Directed Autophagy Results in Protein Aggregate Accumulation in the Brain.
      Title: Loss of TAX1BP1-Directed Autophagy Results in Protein Aggregate Accumulation in the Brain.
    7. evaluated the currently known TBK1-mediated phosphorylation sites in the SKICH domains of NDP52 and TAX1BP1 on the basis of their interactions with NAP1
      Title: Mechanistic insights into the interactions of NAP1 with the SKICH domains of NDP52 and TAX1BP1.
    8. Results show that TAX1BP1 translocates to mitochondria in response to RNA virus infection and inducibly interacts with the MAVS adaptor protein and indicate that TAX1BP1 functions as an adaptor molecule for Itch to target MAVS during RNA virus infection and thus restrict virus-induced apoptosis.
      Title: TAX1BP1 Restrains Virus-Induced Apoptosis by Facilitating Itch-Mediated Degradation of the Mitochondrial Adaptor MAVS.
    9. TAX1BP1 downregulation by EBV-miR-BART15-3p enhances chemosensitivity of gastric cancer cells to 5-fluorouracil.
      Title: TAX1BP1 downregulation by EBV-miR-BART15-3p enhances chemosensitivity of gastric cancer cells to 5-FU.
    10. The induction of antibodies to an AQP4 epitope in mice immunized with the TAX1BP1-derived peptide suggests that a latent HTLV-1 infection could lead to TAX1BP1 antigen presentation and the production of anti-AQP4 antibodies in human neuromyelitis optica.
      Title: Immunization of mice with a peptide derived from the HTLV-1 TAX1BP1 protein induces cross-reactive antibodies against aquaporin 4.
    Submit: New GeneRIF Correction See all GeneRIFs (21)

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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    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 
    Process Evidence Code Pubs
    involved_in apoptotic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in autophagy IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in innate immune response IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of NF-kappaB transcription factor activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in negative regulation of apoptotic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of cytoplasmic pattern recognition receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of toll-like receptor 4 signaling pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein localization to phagocytic vesicle 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

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    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)

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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

    1. NG_029523.1 RefSeqGene

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

    mRNA and Protein(s)

    1. NM_001079864.3 → NP_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, DC424592
      Consensus CDS
      CCDS43561.1
      UniProtKB/TrEMBL
      B4DSG5
      Related
      ENSP00000265393.6, ENST00000265393.10
      Conserved Domains (1) summary
      cl25732
      Location:17 → 460
      SMC_N; RecF/RecN/SMC N terminal domain

    2. NM_001206901.1 → NP_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/TrEMBL
      B4DSG5
      Related
      ENSP00000444811.1, ENST00000543117.5
      Conserved Domains (1) summary
      cl25732
      Location:17 → 460
      SMC_N; RecF/RecN/SMC N terminal domain

    3. NM_001206902.2 → NP_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:14 → 104
      RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)

    4. NM_001362794.2 → NP_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:17 → 460
      SMC_N; RecF/RecN/SMC N terminal domain

    5. NM_001362795.2 → NP_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:17 → 460
      SMC_N; RecF/RecN/SMC N terminal domain

    6. NM_006024.7 → NP_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, 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:17 → 460
      CALCOCO1; Calcium binding and coiled-coil domain (CALCOCO1) like
      cl23720
      Location:131 → 261
      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)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q86VP1.2 GenPept UniProtKB/Swiss-Prot:Q86VP1

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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