COX18 - cytochrome c oxidase assembly factor COX18 Gene

Homo sapiens

Also known as OXA1L2; COX18HS

Gene ID: 285521 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS03061	COX18 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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