OXA1L OXA1L mitochondrial inner membrane protein [Homo sapiens (human)] - Gene

Summary

Official Symbol: OXA1Lprovided by HGNC
Official Full Name: OXA1L mitochondrial inner membrane proteinprovided by HGNC
Primary source: HGNC:HGNC:8526
See related: Ensembl:ENSG00000155463 MIM:601066; AllianceGenome:HGNC:8526
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: OXA1; OXA1L1
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]
Expression: Ubiquitous expression in heart (RPKM 54.4), duodenum (RPKM 53.5) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 14q11.2

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	14	NC_000014.9 (22766688..22773042)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	14	NC_060938.1 (16964760..16971114)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	14	NC_000014.8 (23235897..23242251)

Chromosome 14 - NC_000014.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Mechanism of membrane-tethered mitochondrial protein synthesis.
Title: Mechanism of membrane-tethered mitochondrial protein synthesis.
variants in both the DAD1 and OXA1L genes may affect atopy and asthma in a Latin American population with a high prevalence of asthma.
Title: Polymorphisms in the DAD1 and OXA1L genes are associated with asthma and atopy in a South American population.
Oxa1L-CTT undergoes conformational changes and induced oligomer formation when it binds to the ribosome.
Title: Identification of protein-protein and protein-ribosome interacting regions of the C-terminal tail of human mitochondrial inner membrane protein Oxa1L.
the structure of the C-terminal tail of human Oxa1L (Oxa1L-CTT) and its interaction with the mitochondrial ribosome
Title: Properties of the C-terminal tail of human mitochondrial inner membrane protein Oxa1L and its interactions with mammalian mitochondrial ribosomes.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
Topogenesis of Oxa1 is a cooperative event of all five transmembrane segments (TM), and hexapeptide GLPWWG followed immediately by TM1 is essential for correct Oxa1 topogenesis.
Title: Topogenesis of mammalian Oxa1, a component of the mitochondrial inner membrane protein export machinery.

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Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D14S1254 (e-PCR)
- UniSTS:44921

D14S684E (e-PCR)
- UniSTS:9869

WI-9372 (e-PCR)
- UniSTS:22991

NoName (e-PCR)
- UniSTS:482767

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables membrane insertase activity	IBA Inferred from Biological aspect of Ancestor more info
enables membrane insertase activity	IDA Inferred from Direct Assay more info	PubMed
enables membrane insertase activity	TAS Traceable Author Statement more info
enables mitochondrial ribosome binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in aerobic respiration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mitochondrial protein quality control	IDA Inferred from Direct Assay more info	PubMed
involved_in mitochondrial proton-transporting ATP synthase complex assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mitochondrial respiratory chain complex I assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mitochondrial translation	TAS Traceable Author Statement more info
involved_in negative regulation of ATP-dependent activity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of oxidoreductase activity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein insertion into mitochondrial inner membrane from matrix	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein insertion into mitochondrial inner membrane from matrix	IDA Inferred from Direct Assay more info	PubMed
involved_in protein tetramerization	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
is_active_in mitochondrial inner membrane	IBA Inferred from Biological aspect of Ancestor more info
is_active_in mitochondrial inner membrane	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrial inner membrane	TAS Traceable Author Statement more info
located_in mitochondrial matrix	TAS Traceable Author Statement more info
located_in mitochondrial membrane	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrion	HTP more info	PubMed
located_in mitochondrion	IDA Inferred from Direct Assay more info
part_of protein-containing complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: mitochondrial inner membrane protein OXA1L

Names: OXA1-like protein; epididymis secretory sperm binding protein; oxidase (cytochrome c) assembly 1-like

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_051068.1 RefSeqGene

Range

5167..11521

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_005015.5 → NP_005006.4 mitochondrial inner membrane protein OXA1L

Status: REVIEWED

Source sequence(s)

AK298249, AL135998, BC112331, BP303816, BQ029315

Consensus CDS

CCDS9573.2

UniProtKB/Swiss-Prot

A0A087X0L7, B4DPA2, Q15070

UniProtKB/TrEMBL

A0A384NLA7

Related

ENSP00000483491.2, ENST00000612549.6

Conserved Domains (1) summary

COG0706
Location:49 → 329

YidC; Membrane protein insertase Oxa1/YidC/SpoIIIJ, required for the localization of integral membrane proteins [Cell wall/membrane/envelope biogenesis]