COA3 - cytochrome c oxidase assembly factor 3 Gene

Also Known as COX25; hCOA3; CCDC56; HSPC009; MC4DN14; MITRAC12

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 28958

About COA3

Cytogenetic location: 17q21.2 Genomic coordinates (GRCh38): 17:42,797,625-42,798,704 (from NCBI)

This gene has 2 transcripts (splice variants), 194 orthologues and is associated with 2 phenotypes. Ubiquitous expression in kidney (RPKM 59.3), duodenum (RPKM 48.8) and 25 other tissues.

Summary

This gene encodes a member of the cytochrome c oxidase assembly factor family. Studies of a related gene in fly suggest that the encoded protein is localized to mitochondria and is essential for cytochrome c oxidase function. [provided by RefSeq, Nov 2012]

COA3 Products (1)

mRNA Protein Name
NM_001040431.3 NP_001035521.1 cytochrome c oxidase assembly factor 3 homolog, mitochondrial
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
23260140 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 positive regulation of mitochondrial translation 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

COA3 Protein Structure

Coiled-coil_56

Coiled-coil_56: Coiled-coil domain-containing protein 56 (11 - 104)

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

cytochrome c oxidase assembly factor 3 homolog, mitochondrial

  • coiled-coil domain-containing protein 56

COA3 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
COA3 Q9Y2R0 MT-CO1 Homo sapiens P00395 23260140
Intra
COA3 Q9Y2R0 MT-CO1 Homo sapiens P00395 23260140
Intra
COA3 Q9Y2R0 MT-CO1 Homo sapiens P00395 23260140
Intra
COA3 Q9Y2R0 SURF1 Homo sapiens Q15526 23260140
Intra
COA3 Q9Y2R0 SURF1 Homo sapiens Q15526 23260140
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
  • MC4DN14

  • Mitochondrial Complex 4 Deficiency, Nuclear Type 14

Isolated Cytochrome C Oxidase Deficiency
  • Isolated Cox Deficiency

  • Isolated Mitochondrial Respiratory Chain Complex Iv 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

Demyelinating Polyneuropathy
  • Peripheral Demyelinating Neuropathy

  • Demyelinating Peripheral Neuropathy

Familial Isolated Hypoparathyroidism
  • Fih

Polyneuropathy
  • Polyneuropathies

Myoclonic Epilepsy Associated With Ragged-Red Fibers
  • Merrf Syndrome

  • MERRF

  • Fukuhara Syndrome

  • Myoclonic Epilepsy Associated With Ragged Red Fibers

  • Myoencephalopathy Ragged-Red Fiber Disease

  • Myoclonic Epilepsy - Ragged Red Fibers

  • Myoclonus Epilepsy And Ragged Red Fibers

  • Myoclonus With Epilepsy And With Ragged Red Fibers

  • Myoclonic Epilepsy With Ragged Red Fibers

  • Myoclonic Epilepsy With Ragged-Red Fibers

  • Fukuhara Disease

  • Myoclonus Epilepsy Associated With Ragged-Red Fibres

  • Myoclonus With Epilepsy With Ragged Red Fibers

Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
  • Melas Syndrome

  • MELAS

  • Mitochondrial Encephalomyopathy Lactic Acidosis And Stroke-Like Episodes

  • Mitochondrial Myopathy, Lactic Acidosis, Stroke-Like Episode

  • Mitochondrial Encephalomyopathy, Lactic Acidosis, And Stroke-Like Episodes

  • Myopathy, Mitochondrial-Encephalopathy-Lactic Acidosis-Stroke

  • Mitochondrial Encephalomyopathy, Lactic Acidosis And Stroke-Like Episodes

  • Mitochondrial Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes

  • Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis And Stroke-Like Episodes

  • Mitochondrial Encephalomyopathy With Lactic Acidosis And Stroke-Like Episodes Syndrome

  • Myopathy, Mitochondrial, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes

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

Orthologs Information

Species Symbol Source ID
Felis catus COA3 VGNC VGNC:61041
Rattus norvegicus COA3 RGD RGD:1564337
Mus musculus COA3 MGD MGI:1098757
Bos taurus COA3 VGNC VGNC:27543
Others COA3 NCBI