ADCK3

Protein-coding gene in the species Homo sapiens
COQ8A
Available structures
PDBOrtholog search: PDBe RCSB
List of PDB id codes

4PED

Identifiers
AliasesCOQ8A, ARCA2, CABC1, COQ10D4, COQ8, SCAR9, ADCK3, aarF domain containing kinase 3, coenzyme Q8A
External IDsOMIM: 606980; MGI: 1914676; HomoloGene: 11345; GeneCards: COQ8A; OMA:COQ8A - orthologs
Gene location (Human)
Chromosome 1 (human)
Chr.Chromosome 1 (human)[1]
Chromosome 1 (human)
Genomic location for COQ8A
Genomic location for COQ8A
Band1q42.13Start226,940,286 bp[1]
End226,987,544 bp[1]
Gene location (Mouse)
Chromosome 1 (mouse)
Chr.Chromosome 1 (mouse)[2]
Chromosome 1 (mouse)
Genomic location for COQ8A
Genomic location for COQ8A
Band1|1 H4Start179,992,803 bp[2]
End180,027,167 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • gastrocnemius muscle

  • skeletal muscle tissue

  • muscle of thigh

  • apex of heart

  • body of pancreas

  • left ventricle

  • right adrenal gland

  • right adrenal cortex

  • left adrenal gland

  • left adrenal cortex
Top expressed in
  • extraocular muscle

  • interventricular septum

  • soleus muscle

  • digastric muscle

  • muscle of thigh

  • sternocleidomastoid muscle

  • tibialis anterior muscle

  • temporal muscle

  • masseter muscle

  • myocardium of ventricle
More reference expression data
BioGPS
More reference expression data
Gene ontology
Molecular function
  • transferase activity
  • nucleotide binding
  • ADP binding
  • 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
SpeciesHumanMouse
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: 226.94 – 226.99 MbChr 1: 179.99 – 180.03 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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

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. ^ a b c GRCh38: Ensembl release 89: ENSG00000163050 – Ensembl, May 2017
  2. ^ a b c 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. ^ a b "Entrez Gene: ADCK3 aarF domain containing kinase 3".

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. Bibcode:2006Natur.441..315G. 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. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID 16189514. S2CID 4427026.
  • 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. Bibcode:2004PNAS..10115724W. 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. Bibcode:2002PNAS...9916899M. 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.


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