ADCK3

aarF domain containing kinase 3 is a protein that in humans is encoded by the ADCK3 gene.[5]

This article is about a protein. It is not to be confused with ADCK.

COQ8A
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 4PED
Identifiers
Aliases	COQ8A, ARCA2, CABC1, COQ10D4, COQ8, SCAR9, ADCK3, aarF domain containing kinase 3, coenzyme Q8A
External IDs	OMIM: 606980 MGI: 1914676 HomoloGene: 11345 GeneCards: COQ8A
Gene location (Human) Chr. Chromosome 1 (human)[1] Band 1q42.13 Start 226,897,536 bp[1] End 226,987,545 bp[1]
Gene location (Mouse) Chr. Chromosome 1 (mouse)[2] Band 1|1 H4 Start 180,165,238 bp[2] End 180,199,602 bp[2]
RNA expression pattern More reference expression data
Gene ontology Molecular function • transferase activity • nucleotide binding • ADP binding • GO:0001948 protein binding • ATP binding • protein kinase activity • kinase activity Cellular component • integral component of membrane • mitochondrion • membrane • extrinsic component of mitochondrial inner membrane Biological process • ubiquinone biosynthetic process • protein phosphorylation • phosphorylation Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	56997	67426
Ensembl	ENSG00000163050	ENSMUSG00000026489
UniProt	Q8NI60	Q60936
RefSeq (mRNA)	NM_020247	NM_001163290 NM_023341 NM_001359268 NM_001359269
RefSeq (protein)	NP_064632	NP_001156762 NP_075830 NP_001346197 NP_001346198
Location (UCSC)	Chr 1: 226.9 – 226.99 Mb	Chr 1: 180.17 – 180.2 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

This gene encodes a mitochondrial protein similar to yeast ABC1, which functions in an electron-transferring membrane protein complex in the respiratory chain. It is not related to the family of ABC transporter proteins. Expression of this gene is induced by the tumor suppressor p53 and in response to DNA damage, and inhibiting its expression partially suppresses p53-induced apoptosis. Alternatively spliced transcript variants have been found; however, their full-length nature has not been determined.[5]

References

1. GRCh38: Ensembl release 89: ENSG00000163050 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000026489 - 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.
5. "Entrez Gene: ADCK3 aarF domain containing kinase 3".

External links

• Human ADCK3 genome location and ADCK3 gene details page in the UCSC Genome Browser.

Further reading

• Lagier-Tourenne C, Tazir M, López LC, et al. (2008). "ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency". Am. J. Hum. Genet. 82 (3): 661–72. doi:10.1016/j.ajhg.2007.12.024. PMC 2427193. PMID 18319074.
• Mollet J, Delahodde A, Serre V, et al. (2008). "CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures". Am. J. Hum. Genet. 82 (3): 623–30. doi:10.1016/j.ajhg.2007.12.022. PMC 2427298. PMID 18319072.
• Gregory SG, Barlow KF, McLay KE, et al. (2006). "The DNA sequence and biological annotation of human chromosome 1". Nature. 441 (7091): 315–21. doi:10.1038/nature04727. PMID 16710414.
• Kimura K, Wakamatsu A, Suzuki Y, et al. (2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC 1356129. PMID 16344560.
• Rual JF, Venkatesan K, Hao T, et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. doi:10.1038/nature04209. PMID 16189514.
• Wan D, Gong Y, Qin W, et al. (2004). "Large-scale cDNA transfection screening for genes related to cancer development and progression". Proc. Natl. Acad. Sci. U.S.A. 101 (44): 15724–9. doi:10.1073/pnas.0404089101. PMC 524842. PMID 15498874.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
• Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Iiizumi M, Arakawa H, Mori T, et al. (2002). "Isolation of a novel gene, CABC1, encoding a mitochondrial protein that is highly homologous to yeast activity of bc1 complex". Cancer Res. 62 (5): 1246–50. PMID 11888884.