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    TBC1D10A TBC1 domain family member 10A [ Homo sapiens (human) ]

    Gene ID: 83874, updated on 28-Oct-2024

    Summary

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    Official Symbol
    TBC1D10Aprovided by HGNC
    Official Full Name
    TBC1 domain family member 10Aprovided by HGNC
    Primary source
    HGNC:HGNC:23609
    See related
    Ensembl:ENSG00000099992 MIM:610020; AllianceGenome:HGNC:23609
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    EPI64; TBC1D10; dJ130H16.1; dJ130H16.2
    Summary
    Enables PDZ domain binding activity. Involved in activation of cysteine-type endopeptidase activity and retrograde transport, endosome to Golgi. Located in plasma membrane. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Ubiquitous expression in esophagus (RPKM 13.6), placenta (RPKM 13.3) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TBC1D10A in Genome Data Viewer
    Location:
    22q12.2
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (30291990..30326941, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (30755329..30790284, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (30687979..30722930, complement)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:30659020-30659819 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:30659820-30660618 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18829 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18830 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:30672215-30672804 Neighboring gene oncostatin M Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:30673676-30674204 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:30674205-30674733 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13604 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13605 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18831 Neighboring gene cytosolic arginine sensor for mTORC1 subunit 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18832 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13606 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:30700665-30701164 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18833 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18834 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18835 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18836 Neighboring gene origin of replication in TBC1D10A Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:30721337-30722286 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13607 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13608 Neighboring gene splicing factor 3a subunit 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13609 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:30753765-30754364 Neighboring gene coiled-coil domain containing 157 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:30766725-30767224 Neighboring gene KIAA1656 protein

    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 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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    Related articles in PubMed

    1. EPI64 regulates microvillar subdomains and structure. Hanono A, et al. J Cell Biol, 2006 Dec 4. PMID 17145964, Free PMC Article
    2. Rab35 and its GAP EPI64C in T cells regulate receptor recycling and immunological synapse formation. Patino-Lopez G, et al. J Biol Chem, 2008 Jun 27. PMID 18450757, Free PMC Article
    3. The RabGAPs EPI64A and EPI64B regulate the apical structure of epithelial cells (†). Miller MR, et al. Mol Biol Cell, 2022 Jan 1. PMID 34757852, Free PMC Article
    4. Recycling of the Ca2+-activated K+ channel, KCa2.3, is dependent upon RME-1, Rab35/EPI64C, and an N-terminal domain. Gao Y, et al. J Biol Chem, 2010 Jun 4. PMID 20360009, Free PMC Article
    5. Regulation of VEGFR2 trafficking and signaling by Rab GTPase-activating proteins. Xie Y, et al. Sci Rep, 2019 Sep 16. PMID 31527750, Free PMC Article

    See all (48) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The RabGAPs EPI64A and EPI64B regulate the apical structure of epithelial cells (dagger).
      Title: The RabGAPs EPI64A and EPI64B regulate the apical structure of epithelial cells (†).
    2. Regulation of VEGFR2 trafficking and signaling by Rab GTPase-activating proteins.
      Title: Regulation of VEGFR2 trafficking and signaling by Rab GTPase-activating proteins.
    3. Data suggest that Rab35, interacting with TBC1D10A, functions in vascular endothelial cells as a negative regulator of histamine-evoked, Ca2+-dependent Weibel-Palade body exocytosis, most likely acting through the downstream effectors ACAP2 and Arf6. (Rab35 = rab GTP-binding protein 53; TBC1D10A = TBC1 domain family member 10A; ACAP2 = centaurin beta2; Arf6 = ADP-ribosylation factor 6)
      Title: Rab35 protein regulates evoked exocytosis of endothelial Weibel-Palade bodies.
    4. EPI64, a candidate GAP that is specific for Rab27.
      Title: Rab27A regulates exosome secretion from lung adenocarcinoma cells A549: involvement of EPI64.
    5. Data suggest that EPI64A and B, which are ubiquitously expressed members of the EPI64 subfamily, inactivate Ras and certain Rabs at the periphery of cells.
      Title: All members of the EPI64 subfamily of TBC/RabGAPs also have GAP activities towards Ras.
    6. EPI64 regulates membrane trafficking both by stabilizing Arf6-GTP and by inhibiting the recycling of membrane through the tubular endosome by decreasing Rab8a-GTP levels.
      Title: EPI64 interacts with Slp1/JFC1 to coordinate Rab8a and Arf6 membrane trafficking.
    7. analysis of recycling of the Ca2+-activated K+ channel, KCa2.3, is dependent upon RME-1, Rab35/EPI64C, and an N-terminal domain
      Title: Recycling of the Ca2+-activated K+ channel, KCa2.3, is dependent upon RME-1, Rab35/EPI64C, and an N-terminal domain.
    8. EPI64C and Rab35 regulate a recycling pathway in T cells and contribute to immunological synapse formation, most likely by participating in TCR transport to the immunological synapse
      Title: Rab35 and its GAP EPI64C in T cells regulate receptor recycling and immunological synapse formation.
    9. EPI64 is a GTPase-activating protein specific for Rab27A
      Title: Identification of EPI64 as a GTPase-activating protein specific for Rab27A.
    10. These data reveal that microvilli have distinct cytoskeletal subdomains and that EPI64 regulates microvillar structure.
      Title: EPI64 regulates microvillar subdomains and structure.
    Submit: New GeneRIF Correction

    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    Knockdown of TBC1 domain family, member 10A (TBC1D10A) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells PubMed

    Go to the HIV-1, Human Interaction Database

    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 GTPase activator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables PDZ domain binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables cadherin binding HDA PubMed 
    enables guanyl-nucleotide exchange factor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in activation of cysteine-type endopeptidase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of proteolysis IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    NOT involved_in regulation of cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in retrograde transport, endosome to Golgi IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in retrograde transport, endosome to Golgi IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in extracellular exosome HDA PubMed 
    located_in microvillus TAS
    Traceable Author Statement
    more info
    		 PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    TBC1 domain family member 10A
    Names
    EBP50-PDX interactor of 64 kDa
    EBP50-PDZ interactor of 64 kD
    rab27A-GAP-alpha

    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_001204240.2 → NP_001191169.1  TBC1 domain family member 10A isoform 1

      See identical proteins and their annotated locations for NP_001191169.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AK127939, BC150187, DA944522
      Consensus CDS
      CCDS56227.1
      UniProtKB/TrEMBL
      A7E244
      Related
      ENSP00000384996.3, ENST00000403477.7
      Conserved Domains (2) summary
      smart00164
      Location:117 → 320
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
      cl27169
      Location:403 → 502
      ZipA; ZipA C-terminal domain. ZipA, a membrane-anchored protein, is one of at least nine essential gene products necessary for assembly of the septal ring which mediates cell division in E.coli. ZipA and FtsA directly bind FtsZ, a homolog of eukaryotic ...

    2. NM_031937.3 → NP_114143.1  TBC1 domain family member 10A isoform 2

      See identical proteins and their annotated locations for NP_114143.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) used an alternate in-frame splice site in the 5_ coding region, compared to variant 1. The encoded protein (isoform 2) is shorter, compared to isoform 1.
      Source sequence(s)
      BC150187, BC171775, DA944522
      Consensus CDS
      CCDS13874.1
      UniProtKB/Swiss-Prot
      B3KXT8, O76053, Q20WK7, Q543A2, Q9BXI6
      UniProtKB/TrEMBL
      A7E244
      Related
      ENSP00000215790.8, ENST00000215790.12
      Conserved Domains (2) summary
      smart00164
      Location:110 → 313
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
      PRK03427
      Location:396 → 495
      PRK03427; cell division protein ZipA; Provisional

    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_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      30291990..30326941 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      30755329..30790284 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BXI6.1 GenPept UniProtKB/Swiss-Prot:Q9BXI6

    Gene LinkOut

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

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