1. Gene
  2. COA1 - cytochrome c oxidase assembly factor 1 Gene

COA1 - cytochrome c oxidase assembly factor 1 Gene

Homo sapiens

Also known as C7orf44; MITRAC15

Gene ID: 55744 | Gene type: protein coding

About COA1

Cytogenetic location: 7p13 Genomic coordinates (GRCh38): 7:43,608,457-43,729,523 (from NCBI)

This gene has 19 transcripts (splice variants) and 150 orthologues. Ubiquitous expression in lymph node (RPKM 6.8), appendix (RPKM 4.6) and 25 other tissues.

Summary

Involved in mitochondrial cytochrome c oxidase assembly and mitochondrial respiratory chain complex I assembly. Located in cytosol and mitochondrion. Is integral component of mitochondrial inner membrane. [provided by Alliance of Genome Resources, Apr 2022]

COA1 Products(27)

mRNA Protein Name
NM_001321197.2 NP_001308126.1 cytochrome c oxidase assembly factor 1 homolog isoform a
NM_001321198.2 NP_001308127.1 cytochrome c oxidase assembly factor 1 homolog isoform a
NM_001321199.2 NP_001308128.1 cytochrome c oxidase assembly factor 1 homolog isoform a
NM_001321200.2 NP_001308129.1 cytochrome c oxidase assembly factor 1 homolog isoform a
NM_001321201.2 NP_001308130.1 cytochrome c oxidase assembly factor 1 homolog isoform b
NM_001321202.2 NP_001308131.1 cytochrome c oxidase assembly factor 1 homolog isoform c
NM_001321203.2 NP_001308132.1 cytochrome c oxidase assembly factor 1 homolog isoform c
NM_001321204.2 NP_001308133.1 cytochrome c oxidase assembly factor 1 homolog isoform c
NM_001321205.2 NP_001308134.1 cytochrome c oxidase assembly factor 1 homolog isoform c
NM_001350924.2 NP_001337853.1 cytochrome c oxidase assembly factor 1 homolog isoform a
NM_001350925.2 NP_001337854.1 cytochrome c oxidase assembly factor 1 homolog isoform a
NM_001350926.2 NP_001337855.1 cytochrome c oxidase assembly factor 1 homolog isoform a
NM_001350927.2 NP_001337856.1 cytochrome c oxidase assembly factor 1 homolog isoform a
NM_001350928.2 NP_001337857.1 cytochrome c oxidase assembly factor 1 homolog isoform d
NM_001371307.1 NP_001358236.1 cytochrome c oxidase assembly factor 1 homolog isoform a
NM_001371308.1 NP_001358237.1 cytochrome c oxidase assembly factor 1 homolog isoform a
NM_001371309.1 NP_001358238.1 cytochrome c oxidase assembly factor 1 homolog isoform a
NM_001371310.1 NP_001358239.1 cytochrome c oxidase assembly factor 1 homolog isoform a
NM_001371311.1 NP_001358240.1 cytochrome c oxidase assembly factor 1 homolog isoform a
NM_001371312.1 NP_001358241.1 cytochrome c oxidase assembly factor 1 homolog isoform a
NM_001371313.1 NP_001358242.1 cytochrome c oxidase assembly factor 1 homolog isoform a
NM_001371314.1 NP_001358243.1 cytochrome c oxidase assembly factor 1 homolog isoform a
NM_001371315.1 NP_001358244.1 cytochrome c oxidase assembly factor 1 homolog isoform a
NM_001371316.1 NP_001358245.1 cytochrome c oxidase assembly factor 1 homolog isoform a
NM_001371317.1 NP_001358246.1 cytochrome c oxidase assembly factor 1 homolog isoform d
NM_001371318.1 NP_001358247.1 cytochrome c oxidase assembly factor 1 homolog isoform e
NM_018224.4 NP_060694.2 cytochrome c oxidase assembly factor 1 homolog isoform a
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
32320651 GOA
Biological Process GO Annotation Evidence Reference Source
involved in mitochondrial cytochrome c oxidase assembly IMP
IMP: Inferred from mutant phenotype
23260140 GOA
involved in mitochondrial respiratory chain complex I assembly IMP
IMP: Inferred from mutant phenotype
23260140 GOA
Cellular Component GO Annotation Evidence Reference Source
located in mitochondrial inner membrane IDA
IDA: Inferred from direct assay
23260140 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

COA1 Protein Structure

Coa1

Coa1: Cytochrome oxidase complex assembly protein 1 (20 - 133)

  • 0
  • 100
  • 146 a.a.
Protein Preferred Names Protein Names

cytochrome c oxidase assembly factor 1 homolog

cytochrome c oxidase assembly protein 1 homolog

Related Diseases

Diseases Alias
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

Leigh Syndrome

Leigh Disease

Infantile Subacute Necrotizing Encephalopathy

Leigh Syndrome Due To Mitochondrial Complex Iv Deficiency

LS

Sne

Leigh'S Disease

Leigh Syndrome Due To Mitochondrial Complex I Deficiency

Necrotizing Encephalopathy, Infantile Subacute, Of Leigh

Subacute Necrotizing Encephalomyelopathy

Necrotizing Encephalopathy Infantile Subacute Of Leigh

Leigh Syndrome Due To Mitochondrial Complex Iii Deficiency

Infantile Necrotizing Encephalomyelopathy

Juvenile Subacute Necrotizing Encephalomyelopathy

Leigh'S Necrotizing Encephalopathy

Subacute Necrotizing Encephalopathy

Juvenile Subacute Necrotizing Encephalopathy

Leigh Syndrome Due To Mitochondrial Complex Ii Deficiency

Leigh Syndrome Due To Mitochondrial Complex V Deficiency

Encephalopathy, Subacute Necrotizing, Infantile

Encephalopathy, Subacute Necrotizing, Juvenile

Maternally Inherited Leigh Syndrome

Subacute Necrotising Encephalomyelopathy

Subacute Necrotising Encephalopathy

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