COA7 - cytochrome c oxidase assembly factor 7 Gene

Homo sapiens

Also known as RESA1; SCAN3; SELRC1; C1orf163

Gene ID: 65260 | Gene type: protein coding

About COA7

Cytogenetic location: 1p32.3 Genomic coordinates (GRCh38): 1:52,684,449-52,698,347 (from NCBI)

This gene has 2 transcripts (splice variants), 202 orthologues and is associated with 1 phenotype. Ubiquitous expression in brain (RPKM 6.1), colon (RPKM 6.0) and 25 other tissues.

Summary

Located in mitochondrial intermembrane space and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]

COA7 Products(1)

mRNA	Protein	Name
NM_023077.3	NP_075565.2	cytochrome c oxidase assembly factor 7

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	30885959	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in mitochondrial intermembrane space	IDA IDA: Inferred from direct assay	30885959	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

COA7 Protein Structure

Sel1

0
100
200
231 a.a.

Protein Preferred Names

Protein Names

cytochrome c oxidase assembly factor 7

Sel1 repeat containing 1

Related Diseases

Diseases

Alias

Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3

SCAN3

Axonal Neuropathy

Neuronopathy, Distal Hereditary Motor, Type Iib

HMN2B	Hmn Iib
Neuropathy, Distal Hereditary Motor, Type Iib	Dhmn2b
Distal Hereditary Motor Neuropathy Type 2b	Distal Hereditary Motor Neuropathy Type Iib
Neuronopathy, Distal Hereditary Motor, Type 2b	Neuronopathy, Distal Hereditary Motor, 2b
Dhmn Ii	Neuropathy, Motor, Distal, Hereditary, Type 2b

Mitochondrial Complex Ii Deficiency

Isolated Mitochondrial Respiratory Chain Complex Ii Deficiency	Isolated Succinate-Coenzyme Q Reductase Deficiency
Isolated Succinate-Coq Reductase Deficiency	Isolated Succinate-Ubiquinone Reductase Deficiency
Mitochondrial Respiratory Chain Complex Ii Deficiency	Complex 2 Mitochondrial Respiratory Chain Deficiency
Succinate Coq Reductase Deficiency	Succinate Dehydrogenase Deficiency
Isolated Succinate Dehydrogenase Deficiency	Succinate-Coenzyme Q Reductase Deficiency

Mitochondrial Complex Iv Deficiency, Nuclear Type 1

Cytochrome C Oxidase Deficiency	Mitochondrial Complex Iv Deficiency
Cox Deficiency	Cytochrome-C Oxidase Deficiency Disease
MC1DN4	Cytochrome-C Oxidase Deficiency
MC4DN1	Mitochondrial Complex I Deficiency, Nuclear Type 4
Complex 4 Mitochondrial Respiratory Chain Deficiency	Complex Iv Deficiency
Mitochondrial Complex 1 Deficiency, Nuclear Type 4	Nuclear Type Mitochondrial Complex I Deficiency 4
Deficiency Of Mitochondrial Respiratory Chain Complex4	MT-C4D
Complex Iv Mitochondrial Respiratory Chain Deficiency	Lethal Neonatal Cardiomyopathy Hypertrophic Due To Cytochrome C Oxidase Deficiency
Mitochondrial Complex Iv Deficiency, Nuclear, Type 1

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS02944	COA7 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	COA7	VGNC	VGNC:53859
Felis catus	COA7	VGNC	VGNC:107512
Macaca mulatta	COA7	VGNC	VGNC:99870
Rattus norvegicus	COA7	RGD	RGD:1305274
Mus musculus	COA7	MGD	MGI:1917143
Canis familiaris	COA7	VGNC	VGNC:54197

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