TBC1D10A (TBC1 domain family member 10A)

2016-10-01  

Identity

HGNC
LOCATION
22q12.2
LOCUSID
ALIAS
EPI64,TBC1D10,dJ130H16.1,dJ130H16.2
FUSION GENES

Other Information

Locus ID:

NCBI: 83874
MIM: 610020
HGNC: 23609
Ensembl: ENSG00000099992

Variants:

dbSNP: 83874
ClinVar: 83874
TCGA: ENSG00000099992
COSMIC: TBC1D10A

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000099992ENST00000215790Q9BXI6
ENSG00000099992ENST00000393906F8W9Y7
ENSG00000099992ENST00000403362B5MD46
ENSG00000099992ENST00000403477Q9BXI6
ENSG00000099992ENST00000433426F8WCD1
ENSG00000099992ENST00000437122F8WDN6

Expression (GTEx)

0
10
20
30
40
50
60
70

Pathways

PathwaySourceExternal ID
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
TBC/RABGAPsREACTOMER-HSA-8854214

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
184507572008Rab35 and its GAP EPI64C in T cells regulate receptor recycling and immunological synapse formation.63
171459642006EPI64 regulates microvillar subdomains and structure.37
169238112006Identification of EPI64 as a GTPase-activating protein specific for Rab27A.30
203600092010Recycling of the Ca2+-activated K+ channel, KCa2.3, is dependent upon RME-1, Rab35/EPI64C, and an N-terminal domain.28
246736042014Rab27A regulates exosome secretion from lung adenocarcinoma cells A549: involvement of EPI64.15
222193782012EPI64 interacts with Slp1/JFC1 to coordinate Rab8a and Arf6 membrane trafficking.14
285662862017Rab35 protein regulates evoked exocytosis of endothelial Weibel-Palade bodies.4
232482412013All members of the EPI64 subfamily of TBC/RabGAPs also have GAP activities towards Ras.2

Citation

Dessen P

TBC1D10A (TBC1 domain family member 10A)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56475/tbc1d10a