U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Gene ID: 83874, updated on 5-Mar-2024

Summary

Go to the top of the page Help
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, Apr 2022]
Expression
Ubiquitous expression in esophagus (RPKM 13.6), placenta (RPKM 13.3) and 25 other tissues See more
Orthologs
mouse all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
Location:
22q12.2
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (30291990..30326941, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (30755329..30790284, complement)
105.20220307 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

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • 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

Go to the top of the pageHelp

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. 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
  3. 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
  4. Rab27A regulates exosome secretion from lung adenocarcinoma cells A549: involvement of EPI64. Li W, et al. APMIS, 2014 Nov. PMID 24673604
  5. 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

See all (45) 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

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

Go to the top of the page Help

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

Go to the top of the page

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

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 GTPase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
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 IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
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 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

Go to the top of the page Help
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)

Go to the top of the page Help

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.

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_2023_10

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.

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous