COA7 information

COA7
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
Gene location (Human)
Chr.	Chromosome 1 (human)
End	52,698,347 bp
Gene location (Mouse)
Chr.	Chromosome 4 (mouse)
End	108,198,741 bp
RNA expression pattern
	Top expressed in
	secondary oocyte; ; vastus lateralis muscle; ; Skeletal muscle tissue of biceps brachii; ; mucosa of sigmoid colon; ; Skeletal muscle tissue of rectus abdominis; ; gastrocnemius muscle; ; gingival epithelium; ; muscle of thigh; ; islet of Langerhans; ; right ventricle;
	Top expressed in
	yolk sac; ; morula; ; interventricular septum; ; blastocyst; ; embryo; ; embryo; ; otic placode; ; primitive streak; ; epiblast; ; right kidney;
	More reference expression data
	n/a
Orthologs
	65260
	69893
	ENSG00000162377
	ENSMUSG00000048351
	Q96BR5
	Q921H9
	NM_023077
	NM_027250
	NP_075565
	NP_081526
	Wikidata
View/Edit Human	View/Edit Mouse

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]

^ ^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.
^ "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.
^ "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.
^ "UniProt: the universal protein knowledgebase". Nucleic Acids Research. 45 (D1): D158–D169. January 2017. doi:10.1093/nar/gkw1099. PMC 5210571. PMID 27899622.
^ 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.
^ 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.
^ 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.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000162377 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000048351 – 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.

[entrez-5] "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.

[:1-6] "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.

[:0-7] "UniProt: the universal protein knowledgebase". Nucleic Acids Research. 45 (D1): D158–D169. January 2017. doi:10.1093/nar/gkw1099. PMC 5210571. PMID 27899622.

[:2-8] 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.

[:3-9] 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.

[:4-10] 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.