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

Gene ID: 5018, updated on 11-Sep-2019

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
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
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

Genomic context

See OXA1L in Genome Data Viewer
Location:
14q11.2
Exon count:
10
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 14 NC_000014.9 (22766688..22773042)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (23235731..23240998)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105370404 Neighboring gene olfactory receptor family 6 subfamily E member 1 pseudogene Neighboring gene von Willebrand factor A domain containing 5B2 pseudogene Neighboring gene solute carrier family 7 member 7 Neighboring gene mitochondrial ribosomal protein L52

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from BioSystems

  • Protein export, organism-specific biosystem (from KEGG)
    Protein export, organism-specific biosystemThe protein export is the active transport of proteins from the cytoplasm to the exterior of the cell, or to the periplasmic compartment in Gram-negative bacteria. The sec dependent pathway is the ge...
  • Protein export, conserved biosystem (from KEGG)
    Protein export, conserved biosystemThe protein export is the active transport of proteins from the cytoplasm to the exterior of the cell, or to the periplasmic compartment in Gram-negative bacteria. The sec dependent pathway is the ge...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC133129

Gene Ontology Provided by GOA

Function Evidence Code Pubs
membrane insertase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrial ribosome binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein homodimerization activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
aerobic respiration IMP
Inferred from Mutant Phenotype
more info
PubMed 
aerobic respiration NAS
Non-traceable Author Statement
more info
PubMed 
mitochondrial proton-transporting ATP synthase complex assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
mitochondrial respiratory chain complex I assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
mitochondrial respiratory chain complex IV assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrial translational elongation TAS
Traceable Author Statement
more info
 
mitochondrial translational termination TAS
Traceable Author Statement
more info
 
negative regulation of ATPase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of oxidoreductase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
oxidation-reduction process NAS
Non-traceable Author Statement
more info
PubMed 
protein insertion into membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein insertion into mitochondrial inner membrane from matrix side IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein tetramerization IDA
Inferred from Direct Assay
more info
PubMed 
protein-containing complex assembly NAS
Non-traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
integral component of mitochondrial inner membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of mitochondrial membrane IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrial matrix TAS
Traceable Author Statement
more info
 
mitochondrial membrane IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrial respiratory chain NAS
Non-traceable Author Statement
more info
PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
 
protein-containing complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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)

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

  1. NG_051068.1 RefSeqGene

    Range
    5167..11521
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    Status: REVIEWED

    Source sequence(s)
    AK298249, AL135998, BC112331, BP303816, BQ029315
    Consensus CDS
    CCDS9573.1
    Related
    ENSP00000483491.2, ENST00000612549.5
    Conserved Domains (1) summary
    COG0706
    Location:49329
    YidC; Membrane protein insertase Oxa1/YidC/SpoIIIJ, required for the localization of integral membrane proteins [Cell wall/membrane/envelope biogenesis]

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p13 Primary Assembly

    Range
    22766688..22773042
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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