1. Gene
  2. COA7 - cytochrome c oxidase assembly factor 7 Gene

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

Sel1: Sel1 repeat (68 - 102)

Sel1

Sel1: Sel1 repeat (109 - 146)

Sel1

Sel1: Sel1 repeat (149 - 183)

Sel1

Sel1: Sel1 repeat (186 - 208)

  • 0
  • 100
  • 200
  • 231 a.a.
Protein Preferred Names Protein Names

cytochrome c oxidase assembly factor 7

Sel1 repeat containing 1

COA7 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra
COA7 Q96BR5 DMWD Homo sapiens G5E9A7 32814053
Intra
COA7 Q96BR5 DMWD Homo sapiens G5E9A7 32814053
Intra
COA7 Q96BR5 DMWD Homo sapiens G5E9A7 32814053
Intra
COA7 Q96BR5 LAMP2 Homo sapiens P13473-2 32814053
Intra
COA7 Q96BR5 LAMP2 Homo sapiens P13473-2 32814053
Intra
COA7 Q96BR5 LAMP2 Homo sapiens P13473-2 32814053
Intra
COA7 Q96BR5 q9y649_human Homo sapiens Q9Y649 32814053
Intra
COA7 Q96BR5 q9y649_human Homo sapiens Q9Y649 32814053
Intra
COA7 Q96BR5 q9y649_human Homo sapiens Q9Y649 32814053
Intra
COA7 Q96BR5 RAN Homo sapiens P62826 32814053
Intra
COA7 Q96BR5 RAN Homo sapiens P62826 32814053
Intra
COA7 Q96BR5 RAN Homo sapiens P62826 32814053
Intra
COA7 Q96BR5 GPSM3 Homo sapiens Q9Y4H4 32296183
Intra
COA7 Q96BR5 FGFR3 Homo sapiens P22607 32814053
Intra
COA7 Q96BR5 FGFR3 Homo sapiens P22607 32814053
Intra
COA7 Q96BR5 FGFR3 Homo sapiens P22607 32814053
Intra
COA7 Q96BR5 GSN Homo sapiens P06396 32814053
Intra
COA7 Q96BR5 GSN Homo sapiens P06396 32814053
Intra
COA7 Q96BR5 GSN Homo sapiens P06396 32814053
Intra
COA7 Q96BR5 CYCS Homo sapiens P99999 32814053
Intra
COA7 Q96BR5 CYCS Homo sapiens P99999 32814053
Intra
COA7 Q96BR5 CYCS Homo sapiens P99999 32814053
Intra
COA7 Q96BR5 PMP22 Homo sapiens A0A6Q8PF08 32814053
Intra
COA7 Q96BR5 PMP22 Homo sapiens A0A6Q8PF08 32814053
Intra
COA7 Q96BR5 PMP22 Homo sapiens A0A6Q8PF08 32814053
Intra
COA7 Q96BR5 SPRED1 Homo sapiens Q7Z699 32814053
Intra
COA7 Q96BR5 SPRED1 Homo sapiens Q7Z699 32814053
Intra
COA7 Q96BR5 SPRED1 Homo sapiens Q7Z699 32814053
Intra
COA7 Q96BR5 PRPF40A Homo sapiens O75400-2 32814053
Intra
COA7 Q96BR5 PRPF40A Homo sapiens O75400-2 32814053
Intra
COA7 Q96BR5 PRPF40A Homo sapiens O75400-2 32814053
Intra
COA7 Q96BR5 HMOX2 Homo sapiens P30519 32814053
Intra
COA7 Q96BR5 HMOX2 Homo sapiens P30519 32814053
Intra
COA7 Q96BR5 HMOX2 Homo sapiens P30519 32814053
Intra
COA7 Q96BR5 CASP6 Homo sapiens P55212 32814053
Intra
COA7 Q96BR5 CASP6 Homo sapiens P55212 32814053
Intra
COA7 Q96BR5 CASP6 Homo sapiens P55212 32814053
Intra
COA7 Q96BR5 ENKD1 Homo sapiens Q9H0I2 32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

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

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