OXA1L - OXA1L mitochondrial inner membrane protein Gene

Homo sapiens

Also known as OXA1; OXA1L1

Gene ID: 5018 | Gene type: protein coding

About OXA1L

Cytogenetic location: 14q11.2 Genomic coordinates (GRCh38): 14:22,766,688-22,773,042 (from NCBI)

This gene has 12 transcripts (splice variants), 201 orthologues and 1 paralogue. Ubiquitous expression in heart (RPKM 54.4), duodenum (RPKM 53.5) and 25 other tissues.

Summary

This gene encodes an evolutionarily conserved protein that is localized to the inner mitochondrial membrane. The encoded protein is essential for the translocation of the N-terminal tail of subunit 2 of cytochrome c oxidase, and is involved in the assembly of the cytochrome c oxidase and ATPase complexes of the mitochondrial respiratory chain. [provided by RefSeq, Jul 2016]

OXA1L Products(1)

mRNA	Protein	Name
NM_005015.5	NP_005006.4	mitochondrial inner membrane protein OXA1L

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables membrane insertase activity	IDA IDA: Inferred from direct assay	33602856	GOA
enables mitochondrial ribosome binding	IDA IDA: Inferred from direct assay	20739282	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	20601428	GOA
enables protein homodimerization activity	IDA IDA: Inferred from direct assay	20601428	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in aerobic respiration	IMP IMP: Inferred from mutant phenotype	7991568	GOA
involved in mitochondrial protein quality control	IDA IDA: Inferred from direct assay	38199007	GOA
involved in mitochondrial proton-transporting ATP synthase complex assembly	IMP IMP: Inferred from mutant phenotype	17936786	GOA
involved in mitochondrial respiratory chain complex I assembly	IMP IMP: Inferred from mutant phenotype	17936786	GOA
involved in negative regulation of ATP-dependent activity	IMP IMP: Inferred from mutant phenotype	17936786	GOA
involved in negative regulation of oxidoreductase activity	IMP IMP: Inferred from mutant phenotype	17936786	GOA
involved in protein insertion into mitochondrial inner membrane from matrix	IDA IDA: Inferred from direct assay	33602856	GOA
involved in protein tetramerization	IDA IDA: Inferred from direct assay	20601428	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
is active in mitochondrial inner membrane	IDA IDA: Inferred from direct assay	33602856	GOA
located in mitochondrial membrane	IDA IDA: Inferred from direct assay	17936786	GOA
part of protein-containing complex	IDA IDA: Inferred from direct assay	17936786	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

OXA1L Protein Structure

60KD_IMP

0
100
200
300
400
495 a.a.

Protein Preferred Names

Protein Names

mitochondrial inner membrane protein OXA1L

OXA1-like protein

Related Diseases

Diseases

Alias

Mitochondrial Disease

Mitochondrial Diseases

Mitochondrial Disorder

Hyperthyroxinemia

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

Central Corneal Ulcer

Absolute Glaucoma

Blind Hypertensive Eye

Glaucoma Absolute

Parametritis

Pelvic Cellulitis

Urinary Tract Infection

Urinary Tract Infections	Uti
Urinary Tract Infection Nos	Uti - [Urinary Tract Infection]
Uti Nos - [Urinary Tract Infection Nos]	Urosepsis Nos
E Coli Uti	E Coli Urinary Tract Infection
Escherichia Coli Uti

Analbuminemia

ANALBA	Congenital Analbuminemia
Hypoalbuminemia

Diabetes Mellitus

Diabetes

Wolf-Hirschhorn Syndrome

Pitt-Rogers-Danks Syndrome	WHS
Chromosome 4p16.3 Deletion Syndrome	Wittwer Syndrome
4p- Syndrome	Pitt Syndrome
4p Deletion Syndrome	Distal Deletion 4p
Distal Monosomy 4p	Telomeric Deletion 4p
Prds	4p Syndrome
Chromosome 4p Syndrome	Microcephaly, Iugr, Hypertelorism, Ptosis, Iris Coloboma, Hooked Nose, External Ear Dysplasia, Psychomotor Retardation
Wolf Syndrome	Chromosome 4p Deletion Syndrome
Chromosome 4p Monosomy	Del Syndrome
Monosomy 4p	Partial Monosomy 4p
Chromosome 4 Short Arm Deletion

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-RS09885	OXA1L Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	OXA1L	MGD	MGI:1916339
Macaca mulatta	OXA1L	VGNC	VGNC:75729
Rattus norvegicus	OXA1L	RGD	RGD:1585024
Canis familiaris	OXA1L	VGNC	VGNC:44199
Bos taurus	OXA1L	VGNC	VGNC:32507
Felis catus	OXA1L	VGNC	VGNC:80889

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