CABC1

From Wikipedia, the free encyclopedia

Chaperone, ABC1 activity of bc1 complex homolog (S. pombe)

Identifiers

CABC1; ADCK3; COQ8; MGC4849

External IDs

OMIM: 606980 MGI: 1914676 HomoloGene: 11345

Gene ontology
Molecular Function:	• nucleotide binding • ATP binding • kinase activity • transferase activity
Cellular Component:	• mitochondrion
Biological Process:	• protein folding

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_020247 (mRNA)
NP_064632 (protein)

NM_023341 (mRNA)
NP_075830 (protein)

Location

Chr 1: 225.15 - 225.24 Mb

Chr 1: 182 - 182.03 Mb

Pubmed search

[1]

[2]

Chaperone, ABC1 activity of bc1 complex homolog (S. pombe), also known as CABC1, is a human gene.^[1]

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.^[1]

[edit] References

^ ^a ^b Entrez Gene: CABC1 chaperone, ABC1 activity of bc1 complex homolog (S. pombe).

[edit] 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. 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. 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. 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. 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. 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. 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.