COA7
| COA7 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | COA7, C1orf163, RESA1, SELRC1, cytochrome c oxidase assembly factor 7 (putative), SCAN3, cytochrome c oxidase assembly factor 7 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 615623; MGI: 1917143; HomoloGene: 11317; GeneCards: COA7; OMA:COA7 - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Cytochrome c oxidase assembly factor 7 (putative) (COA7), also known as Beta-lactamase hap-like protein, Respiratory chain assembly factor 1 (RESA1), Sel1 repeat-containing protein 1 (SELRC1), or C1orf163 is a protein that in humans is encoded by the COA7 gene.[5][6][7] The protein encoded by COA7 is an assembly factor important for the mitochondrial respiratory chain.[8] Mutations in COA7 have been associated with cytochrome c oxidase deficiency resulting in spinocerebellar ataxia with axonal neuropathy type 3 and mitochondrial myopathy.[9][10]
Structure
[edit]COA7 is located on the p arm of chromosome 1 in position 32.3 and has 3 exons.[5] The COA7 gene produces a 25.7 kDa protein composed of 231 amino acids.[11][12] COA7, the protein encoded by this gene, is a member of the hcp beta-lactamase family. This protein has a series of 5 Sel1-like tetratricopeptide repeat domains.[10] It is also believed to be a soluble mitochondrial protein that contains large amounts of cysteine.[8] Additionally, COA7 contains an N-acetylalanine amino acid modification at position 2.[6][7]
Function
[edit]COA7 is a protein assembly factor that is important for normal mitochondrial respiratory chain activity. It is believed to be involved in the assembly of cytochrome c oxidase (complex IV), but may also have effects on complex I and even complex III as well. It has been suggested that COA7 is a mitochondrial soluble intermembrane space protein, however, others have indicated that this soluble protein may actually be localized to the mitochondrial matrix.[8][10]
Clinical significance
[edit]Mutations in COA7 have been associated with spinocerebellar ataxia with axonal neuropathy type 3 and mitochondrial myopathy resulting from cytochrome c oxidase (complex IV) deficiency. Complex IV deficiency is a disorder of the mitochondrial respiratory chain with heterogeneous clinical manifestations, ranging from isolated myopathy to severe multisystem disease affecting several tissues and organs.[13][7] In cases of pathogenic COA7 mutations, patient clinical manifestations can include sensory disturbance, decreased deep tendon reflexes, dysarthria, peripheral neuropathy, axonal sensorimotor neuropathy, ataxia, cerebellar and spinal cord atrophy, leukoencephalopathy, elevated serum creatine kinase levels, ragged-red fibers, and cognitive impairment. COA7 loss-of-function has been shown to lead to the disruption of oxidative phosphorylation, with cytochrome c oxidase activity being the most affected complex. Pathogenic variations have been known to include D6G, S149I, G144fs, and Y137C amino acid changes in addition to a c.115C>T exon 2 deletion.[9][10]
Interactions
[edit]COA7 has been shown to have 27 binary protein-protein interactions including 16 co-complex interactions. COA7 appears to interact with EFHC1, SNRPB, SUOX, AES, ENKD1, and GPSM3.[14]
References
[edit]- ^ a b c GRCh38: Ensembl release 89: ENSG00000162377 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000048351 – 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.
- ^ a b "Entrez Gene: Cytochrome c oxidase assembly factor 7 (putative)". Retrieved 2018-08-08.
This article incorporates text from this source, which is in the public domain.
- ^ a b "COA7 - Cytochrome c oxidase assembly factor 7 - Homo sapiens (Human) - COA7 gene & protein". www.uniprot.org. Retrieved 2018-08-08.
This article incorporates text available under the CC BY 4.0 license.
- ^ a b c "UniProt: the universal protein knowledgebase". Nucleic Acids Research. 45 (D1): D158–D169. January 2017. doi:10.1093/nar/gkw1099. PMC 5210571. PMID 27899622.
- ^ a b c Kozjak-Pavlovic V, Prell F, Thiede B, Götz M, Wosiek D, Ott C, Rudel T (February 2014). "C1orf163/RESA1 is a novel mitochondrial intermembrane space protein connected to respiratory chain assembly". Journal of Molecular Biology. 426 (4): 908–20. doi:10.1016/j.jmb.2013.12.001. PMID 24333015.
- ^ a b Higuchi Y, Okunushi R, Hara T, Hashiguchi A, Yuan J, Yoshimura A, Murayama K, Ohtake A, Ando M, Hiramatsu Y, Ishihara S, Tanabe H, Okamoto Y, Matsuura E, Ueda T, Toda T, Yamashita S, Yamada K, Koide T, Yaguchi H, Mitsui J, Ishiura H, Yoshimura J, Doi K, Morishita S, Sato K, Nakagawa M, Yamaguchi M, Tsuji S, Takashima H (June 2018). "Mutations in COA7 cause spinocerebellar ataxia with axonal neuropathy". Brain. 141 (6): 1622–1636. doi:10.1093/brain/awy104. PMC 5972596. PMID 29718187.
- ^ a b c d Martinez Lyons A, Ardissone A, Reyes A, Robinson AJ, Moroni I, Ghezzi D, Fernandez-Vizarra E, Zeviani M (December 2016). "COA7 (C1orf163/RESA1) mutations associated with mitochondrial leukoencephalopathy and cytochrome c oxidase deficiency". Journal of Medical Genetics. 53 (12): 846–849. doi:10.1136/jmedgenet-2016-104194. PMC 5264227. PMID 27683825.
- ^ Yao, Daniel. "Cardiac Organellar Protein Atlas Knowledgebase (COPaKB) —— Protein Information". amino.heartproteome.org. Archived from the original on 2018-08-09. Retrieved 2018-08-08.
- ^ Zong NC, Li H, Li H, Lam MP, Jimenez RC, Kim CS, Deng N, Kim AK, Choi JH, Zelaya I, Liem D, Meyer D, Odeberg J, Fang C, Lu HJ, Xu T, Weiss J, Duan H, Uhlen M, Yates JR, Apweiler R, Ge J, Hermjakob H, Ping P (October 2013). "Integration of cardiac proteome biology and medicine by a specialized knowledgebase". Circulation Research. 113 (9): 1043–53. doi:10.1161/CIRCRESAHA.113.301151. PMC 4076475. PMID 23965338.
- ^ "Mitochondrial complex IV deficiency". www.uniprot.org. Retrieved 2018-08-08. This article incorporates text available under the CC BY 4.0 license.
- ^ "27 binary interactions found for search term COA7". IntAct Molecular Interaction Database. EMBL-EBI. Retrieved 2018-08-25.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.