// Workers AI · dad joke modeWhat did TBC1D10A gene say? I'm a variant.

TBC1D10A
Identifiers
Aliases	TBC1D10A, EPI64, TBC1D10, dJ130H16.1, dJ130H16.2, TBC1 domain family member 10A
External IDs	OMIM: 610020; MGI: 2144164; GeneCards: TBC1D10A
Gene location (Human)
Chr.	Chromosome 22 (human)
End	30,326,947 bp
Gene location (Mouse)
Chr.	Chromosome 11 (mouse)
End	4,165,505 bp
RNA expression pattern
	Top expressed in
	nasal epithelium; ; skin of arm; ; skin of leg; ; mucosa of esophagus; ; skin of abdomen; ; granulocyte; ; gingival epithelium; ; mucosa of transverse colon; ; ascending aorta; ; spleen;
	Top expressed in
	lip; ; right kidney; ; gastrula; ; yolk sac; ; molar; ; spermatocyte; ; esophagus; ; proximal tubule; ; corneal stroma; ; spermatid;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	PDZ domain binding; protein binding; guanyl-nucleotide exchange factor activity; GTPase activator activity; cadherin binding;
Cellular component	microvillus; plasma membrane; cell projection; extracellular exosome; endomembrane system; cytosol; intracellular anatomical structure;
Biological process	regulation of cilium assembly; activation of cysteine-type endopeptidase activity; retrograde transport, endosome to Golgi; positive regulation of proteolysis; activation of GTPase activity; regulation of vesicle fusion; intracellular protein transport;
	Sources:Amigo / QuickGO
Orthologs
Databases	NCBI: entry; OMA: entry
	83874
	103724
	ENSG00000099992
	ENSMUSG00000034412
	Q9BXI6
	P58802
	NM_031937; NM_001204240
	NM_134023
	NP_001191169; NP_114143; NP_001191169.1; NP_114143.1
	NP_598784
	Wikidata
View/Edit Human	View/Edit Mouse

TBC1 domain family member 10A is a protein that in humans is encoded by the TBC1D10A gene.^[5]^[6]

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000099992 – Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000034412 – Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ Reczek D, Bretscher A (April 2001). "Identification of EPI64, a TBC/rabGAP domain-containing microvillar protein that binds to the first PDZ domain of EBP50 and E3KARP". The Journal of Cell Biology. 153 (1): 191–206. doi:10.1083/jcb.153.1.191. PMC 2185518. PMID 11285285.
↑ "Entrez Gene: TBC1D10A TBC1 domain family, member 10A".

Collins JE, Wright CL, Edwards CA, Davis MP, Grinham JA, Cole CG, et al. (2004). "A genome annotation-driven approach to cloning the human ORFeome". Genome Biology. 5 (10) R84. doi:10.1186/gb-2004-5-10-r84. PMC 545604. PMID 15461802.
Cheng J, Kapranov P, Drenkow J, Dike S, Brubaker S, Patel S, et al. (May 2005). "Transcriptional maps of 10 human chromosomes at 5-nucleotide resolution". Science. 308 (5725). New York, N.Y.: 1149–1154. Bibcode:2005Sci...308.1149C. doi:10.1126/science.1108625. PMID 15790807. S2CID 13047538.
Kapranov P, Drenkow J, Cheng J, Long J, Helt G, Dike S, et al. (July 2005). "Examples of the complex architecture of the human transcriptome revealed by RACE and high-density tiling arrays". Genome Research. 15 (7): 987–997. doi:10.1101/gr.3455305. PMC 1172043. PMID 15998911.
Itoh T, Fukuda M (2006). "Identification of EPI64 as a GTPase-activating protein specific for Rab27A". The Journal of Biological Chemistry. 281 (42): 31823–31831. doi:10.1074/jbc.M603808200. PMID 16923811.
Hanono A, Garbett D, Reczek D, Chambers DN, Bretscher A (December 2006). "EPI64 regulates microvillar subdomains and structure". The Journal of Cell Biology. 175 (5): 803–813. doi:10.1083/jcb.200604046. PMC 2064679. PMID 17145964.

This article on a gene on human chromosome 22 is a stub. You can help Wikipedia by adding missing information.

[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000099992 – Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000034412 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[Reczek_2001-5] Reczek D, Bretscher A (April 2001). "Identification of EPI64, a TBC/rabGAP domain-containing microvillar protein that binds to the first PDZ domain of EBP50 and E3KARP". The Journal of Cell Biology. 153 (1): 191–206. doi:10.1083/jcb.153.1.191. PMC 2185518. PMID 11285285.

[entrez-6] "Entrez Gene: TBC1D10A TBC1 domain family, member 10A".

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// Workers AI · dad joke modeWhat did TBC1D10A gene say? I'm a variant.

References

Further reading