COX19 - cytochrome c oxidase assembly factor COX19 Gene

Homo sapiens

Gene ID: 90639 | Gene type: protein coding

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	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	23676665	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in intracellular copper ion homeostasis	IMP IMP: Inferred from mutant phenotype	23345593	GOA

Cellular Component GO Annotation	Evidence	Reference	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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS03062	COX19 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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