COA8 - cytochrome c oxidase assembly factor 8 Gene

Also Known as APOP; APOP1; APOPT1; MC4DN17; C14orf153

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 84334

About COA8

Cytogenetic location: 14q32.33 Genomic coordinates (GRCh38): 14:103,562,960-103,590,899 (from NCBI)

This gene has 17 transcripts (splice variants), 180 orthologues and is associated with 3 phenotypes. Ubiquitous expression in testis (RPKM 10.4), fat (RPKM 5.7) and 25 other tissues.

Summary

This gene encodes a protein that localizes to the mitochondria, where it stimulates the release of cytochrome c, thereby promoting programmed cell death. Mutations in this gene have been found in individuals with mitochondrial complex IV deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]

COA8 Products (4)

mRNA Protein Name
NM_001302652.2 NP_001289581.2 cytochrome c oxidase assembly factor 8 isoform 2
NM_001302653.2 NP_001289582.2 cytochrome c oxidase assembly factor 8 isoform 3
NM_001302654.2 NP_001289583.2 cytochrome c oxidase assembly factor 8 isoform 4
NM_001370595.2 NP_001357524.1 cytochrome c oxidase assembly factor 8 isoform 1

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
28514442 GOA
Biological Process GO Annotation Evidence References Source
involved in mitochondrial cytochrome c oxidase assembly IDA
IDA: Inferred from direct assay
30552096 GOA
involved in mitochondrial cytochrome c oxidase assembly IMP
IMP: Inferred from mutant phenotype
25175347 GOA
involved in negative regulation of reactive oxygen species biosynthetic process IMP
IMP: Inferred from mutant phenotype
25175347 GOA
involved in positive regulation of cytochrome-c oxidase activity IDA
IDA: Inferred from direct assay
30552096 GOA
involved in positive regulation of cytochrome-c oxidase activity IMP
IMP: Inferred from mutant phenotype
25175347 GOA
involved in protein stabilization IDA
IDA: Inferred from direct assay
30552096 GOA
involved in response to reactive oxygen species IDA
IDA: Inferred from direct assay
30552096 GOA
Cellular Component GO Annotation Evidence References Source
located in matrix side of mitochondrial inner membrane IDA
IDA: Inferred from direct assay
30552096 GOA
located in mitochondrion IDA
IDA: Inferred from direct assay
25175347 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

COA8 Protein Structure

DUF2315

DUF2315: Uncharacterised conserved protein (DUF2315) (66 - 196)

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

cytochrome c oxidase assembly factor 8

  • UPF0671 protein C14orf153

COA8 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
COA8 Q96IL0 CLUH Homo sapiens O75153
Anti Tag CoIP
33961781
Intra
COA8 Q96IL0 CLUH Homo sapiens O75153
Anti Tag CoIP
28514442
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Mitochondrial Complex Iv Deficiency, Nuclear Type 17

  • MC4DN17

  • Mitochondrial Complex 4 Deficiency, Nuclear Type 17
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
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
Charcot-Marie-Tooth Disease, Type 4k

  • Charcot-Marie-Tooth Disease Type 4k

  • CMT4K

  • Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive, Type 4k

  • Charcot-Marie-Tooth Neuropathy, Demyelinating, Autosomal Recessive, Type 4k

  • Surf1-Related Charcot-Marie-Tooth Disease Type 4

  • Surf1-Related Cmt4

  • Surf1-Related Severe Demyelinating Charcot-Marie-Tooth Disease

  • Autosomal Recessive Demyelinating Charcot-Marie-Tooth Disease Type 4k

  • Autosomal Recessive Demyelinating Charcot-Marie-Tooth Neuropathy Type 4k

  • Charcot-Marie-Tooth Disease 4k

  • Charcot-Marie-Tooth Disease, Demyelinating, Type 4k

  • Charcot-Marie-Tooth Neuropathy, Type 4k
Charcot-Marie-Tooth Disease, Axonal, Type 2ee

  • CMT2EE

  • Charcot-Marie-Tooth Neuropathy, Type 2ee

  • Charcot-Marie-Tooth Disease Type 2ee

  • Charcot-Marie-Tooth Disease, Axonal, 2ee
Leukodystrophy

  • Leukodystrophies
Human Monocytic Ehrlichiosis

  • Ehrlichiosis Chafeensis

  • Hme

  • Human Ehrlichial Infection, Human Monocytic Type
Fatal Infantile Cardioencephalomyopathy Due To Cytochrome C Oxidase Deficiency

  • Cardioencephalomyopathy, Fatal Infantile, Due To Cytochrome C Oxidase Deficiency

  • Fatal Infantile Cox Deficiency

  • Fatal Infantile Cytochrome C Oxidase Deficiency

  • Fatal Infantile Encephalocardiomyopathy
L-2-Hydroxyglutaric Aciduria

  • L-2-Hydroxyglutaric Acidemia

  • L2HGA

  • L-2-Hga

  • Aciduria, L-2-Hydroxyglutaric

  • Combined D-2- And L-2-Hydroxyglutaric Aciduria
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

Pre-clinical Phase

Bioactive Molecules (33)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-CE00430 (8Z,11Z)-Icosadienoyl-CoA / Unkown
HY-CE00431 (8Z,11Z,14Z)-3-Oxoicosa-8,11,14-trienoyl-CoA / Unkown
HY-CE00434 (8Z,11Z,14Z,17Z)-3-Oxoicosatetraenoyl-CoA / Unkown
HY-CE00437 (8Z,11Z,14Z,17Z)-Icosatetraenoyl-CoA / Unkown
HY-CE00439 (8Z,11Z,14Z,17Z,20Z)-Hexacosapentaenoyl-CoA / Unkown
HY-CE00441 (8Z,11Z,14Z,17Z,20Z,23Z)-3-Oxohexacosahexaenoyl-CoA / Unkown
HY-CE00443 (8Z,11Z,14Z,17Z,20Z,23Z)-Hexacosahexaenoyl-CoA / Unkown
HY-CE01319 8-Hydroxyhexadecanoyl-CoA / Unkown
HY-CE01363 8-Hydroxydecanoyl-CoA / Unkown
HY-CE01364 8-Hydroxydodecanoyl-CoA / Unkown
HY-CE01365 8-Hydroxyundecanoyl-CoA / Unkown
HY-CE01366 8-Methyl-6-nonenoyl-CoA / Unkown
HY-CE01367 8-MethylHexadecanoyl-CoA / Unkown
HY-CE01368 8-Methyldecanoyl-CoA / Unkown
HY-CE01369 8-Methyldocosanoyl-CoA / Unkown
HY-CE01370 8-Methyldodecanoyl-CoA / Unkown
HY-CE01371 8-Methylhenicosanoyl-CoA / Unkown
HY-CE01372 8-Methylheptadecanoyl-CoA / Unkown
HY-CE01373 8-Methylicosanoyl-CoA / Unkown
HY-CE01375 8-Methyloctadecanoyl-CoA / Unkown
HY-CE01376 8-Methylpentacosanoyl-CoA / Unkown
HY-CE01377 8-Methylpentadecanoyl-CoA / Unkown
HY-CE01378 8-Methyltetracosanoyl-CoA / Unkown
HY-CE01379 8-Methyltetradecanoyl-CoA / Unkown
HY-CE01380 8-Methyltricosanoyl-CoA / Unkown
HY-CE01381 8-Methyltridecanoyl-CoA / Unkown
HY-CE01382 8-Methylundecanoyl-CoA / Unkown
HY-CE01383 8-Oxodecanoyl-CoA / Unkown
HY-CE01443 8-Hydroxyoctadecanoyl-CoA / Unkown
HY-CE01444 8-Methylnonadecanoyl-CoA / Unkown
HY-CE01559 8-Oxononanoyl-CoA / Unkown
HY-CE01561 8-Hydroxyhexadecanedioyl-CoA / Unkown
HY-RS02945 COA8 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Rattus norvegicus COA8 RGD RGD:1304719
Felis catus COA8 VGNC VGNC:81014
Mus musculus COA8 MGD MGI:1915270
Canis familiaris COA8 VGNC VGNC:53488
Bos taurus COA8 VGNC VGNC:26037
Others COA8 NCBI