COA1 - cytochrome c oxidase assembly factor 1 Gene

Also Known as C7orf44; MITRAC15

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 55744

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
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
32320651 GOA
Biological Process GO Annotation Evidence References 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 References 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