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

Summary

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, Nov 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

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_000022.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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 (†).
Regulation of VEGFR2 trafficking and signaling by Rab GTPase-activating proteins.
Title: Regulation of VEGFR2 trafficking and signaling by Rab GTPase-activating proteins.
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.
EPI64, a candidate GAP that is specific for Rab27.
Title: Rab27A regulates exosome secretion from lung adenocarcinoma cells A549: involvement of EPI64.
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.
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.
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.
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.
EPI64 is a GTPase-activating protein specific for Rab27A
Title: Identification of EPI64 as a GTPase-activating protein specific for Rab27A.
These data reveal that microvilli have distinct cytoskeletal subdomains and that EPI64 regulates microvillar structure.
Title: EPI64 regulates microvillar subdomains and structure.

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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 Variation Viewer (GRCh37.p13)

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

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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

D17S1239 (e-PCR)
- UniSTS:149852

A002C11 (e-PCR)
- UniSTS:5341

D22S531 (e-PCR), detects polymorphism
- UniSTS:7904

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 more info	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 more info	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)

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 ...
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