COX19 - cytochrome c oxidase assembly factor COX19 Gene

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 90639

About COX19

Cytogenetic location: 7p22.3 Genomic coordinates (GRCh38): 7:964,852-975,549 (from NCBI)

This gene has 4 transcripts (splice variants), 146 orthologues and 1 paralogue. Ubiquitous expression in skin (RPKM 2.7), duodenum (RPKM 2.6) and 25 other tissues.

Summary

COX19 encodes a cytochrome c oxidase (COX)-assembly protein. The S. cerevisiae Cox19 protein may play a role in metal transport to the mitochondrial intermembrane space and assembly of complex IV of the mitochondrial respiratory chain (Sacconi et al., 2005 [PubMed 16212937]).[supplied by OMIM, Mar 2008]

COX19 Products (1)

mRNA Protein Name
NM_001031617.3 NP_001026788.1 cytochrome c oxidase assembly protein COX19

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
23676665 GOA
Biological Process GO Annotation Evidence References Source
involved in intracellular copper ion homeostasis IMP
IMP: Inferred from mutant phenotype
23345593 GOA
Cellular Component GO Annotation Evidence References Source
located in cytosol IDA
IDA: Inferred from direct assay
23345593 GOA
located in mitochondrial intermembrane space IDA
IDA: Inferred from direct assay
23345593 GOA
located in mitochondrion IDA
IDA: Inferred from direct assay
23345593 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

COX19 Protein Structure

CHCH

CHCH: CHCH domain (30 - 64)

  • 0
  • 90 a.a.
Protein Preferred Names Protein Names

cytochrome c oxidase assembly protein COX19

  • COX19 cytochrome c oxidase assembly 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
Menkes Disease

  • Copper Transport Disease

  • Menkes Syndrome

  • MNK

  • Kinky Hair Disease

  • Steely Hair Disease

  • Menkes Kinky-Hair Syndrome

  • Mk

  • Steely Hair Syndrome

  • Menkea Syndrome

  • Md

  • Menkes Kinky Hair Syndrome

  • Hypocupremia, Congenital

  • Kinky Hair Syndrome

  • X-Linked Copper Deficiency

  • Menkes Kinky Hair Disease
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 (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS03062 COX19 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Rattus norvegicus COX19 RGD RGD:1305631
Bos taurus COX19 VGNC VGNC:27632
Mus musculus COX19 MGD MGI:1915283
Canis familiaris COX19 VGNC VGNC:39538
Felis catus COX19 VGNC VGNC:107751
Others COX19 NCBI