COX18 - cytochrome c oxidase assembly factor COX18 Gene

Also Known as OXA1L2; COX18HS

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 285521

About COX18

Cytogenetic location: 4q13.3 Genomic coordinates (GRCh38): 4:73,052,362-73,069,759 (from NCBI)

This gene has 5 transcripts (splice variants), 199 orthologues and 1 paralogue. Ubiquitous expression in kidney (RPKM 3.3), adrenal (RPKM 2.9) and 25 other tissues.

Summary

This gene encodes a cytochrome c oxidase assembly protein. The encoded protein is essential for integral membrane protein insertion into the mitochondrial inner membrane. It is also required for cytochrome c oxidase assembly and activity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

COX18 Products (4)

mRNA	Protein	Name
NM_001297732.2	NP_001284661.1	cytochrome c oxidase assembly protein COX18, mitochondrial isoform 1
NM_001297733.2	NP_001284662.1	cytochrome c oxidase assembly protein COX18, mitochondrial isoform 3
NM_001300729.1	NP_001287658.1	cytochrome c oxidase assembly protein COX18, mitochondrial isoform 4
NM_173827.4	NP_776188.1	cytochrome c oxidase assembly protein COX18, mitochondrial isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables membrane insertase activity	EXP EXP: Inferred from Experiment	28330871	GOA
enables membrane insertase activity	IDA IDA: Inferred from direct assay	28330871	GOA
enables membrane insertase activity	IGI IGI: Inferred from genetic interaction	16911509	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	28330871	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in mitochondrial cytochrome c oxidase assembly	IMP IMP: Inferred from mutant phenotype	28330871	GOA
involved in protein insertion into mitochondrial inner membrane from matrix	IDA IDA: Inferred from direct assay	28330871	GOA
involved in protein insertion into mitochondrial membrane	IGI IGI: Inferred from genetic interaction	16911509	GOA
involved in respiratory chain complex IV assembly	IGI IGI: Inferred from genetic interaction	16911509	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in mitochondrial inner membrane	IDA IDA: Inferred from direct assay	16212937	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

COX18 Protein Structure

60KD_IMP

0
100
200
300
333 a.a.

Protein Preferred Names	Protein Names
cytochrome c oxidase assembly protein COX18, mitochondrial	COX18, cytochrome c oxidase assembly factor

Related Diseases

Diseases	Alias
Trench Fever	His-Werner Disease Quintan Fever Shin Bone Fever Wolhynian Fever Tibialgic Fever Bartonellosis Due To Bartonella Quintana Infection Febris Quintata Five Day Fever Fever Due To Rickettsia Quintana Febris Quintana Fever Due To Bartonella Quintana Fever Due To Rochalimaea Quintana Meuse Fever
Indian Tick Typhus
Waardenburg Syndrome, Type 4b	Waardenburg Syndrome Type 4b WS4B Waardenburg Syndrome Type Ivb Waardenburg Syndrome With Hirschsprung Disease Type 4b Waardenburg Syndrome, Type 4b, With Hirschsprung Disease Waardenburg Syndrome, Type Ivb Waardenburg Syndrome 4b Hirschsprung Disease With Pigmentary Anomaly Shah-Waardenburg Syndrome Waardenburg-Shah Syndrome Waardenburg Syndrome, Type 4a
Pediculus Humanus Capitis Infestation	Pediculosis Capitis Pediculus Capitis Infestation Head Louse Infestation Pediculus Capitis Head-Louse Infestation Head Lice Infestation By Pediculus Capitis
Bacillary Angiomatosis	Angiomatosis, Bacillary
Raynaud-Claes Syndrome	Mrx49 MRXSRC Mental Retardation, X-Linked 49 Mrx15 Clcn4-Related X-Linked Intellectual Disability Syndrome Mental Retardation, X-Linked 15 X-Linked Mental Retardation 15 X-Linked Mental Retardation 49 Mental Retardation, X-Linked-49
Lice Infestation	Pediculosis Louse Infestation Mixed Pediculosis Lice Infestations Infestation By Pediculus Mixed Pediculosis Infestation Pediculosis + Lice Pediculosis And Phthirus Infection Pediculosis And Phthirus Infections Pediculosis And Phthirus Infestation Infestation By Anoplura Pediculus Infestation Lice Nos

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 (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS03061	COX18 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS20893	Cox18 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27410	Cox18 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	COX18	RGD	RGD:1559547
Macaca mulatta	COX18	VGNC	VGNC:71591
Felis catus	COX18	VGNC	VGNC:78472
Canis familiaris	COX18	VGNC	VGNC:39537
Mus musculus	COX18	MGD	MGI:2448532
Bos taurus	COX18	VGNC	VGNC:53697
Others	COX18	NCBI