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

Gene ID: 5018, updated on 6-Oct-2024

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
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Genomic context

See OXA1L in Genome Data Viewer
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_000014.9Genomic Context describing neighboring genes Neighboring gene OXA1L divergent transcript Neighboring gene von Willebrand factor A domain containing 5B2 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8138 Neighboring gene small nucleolar RNA SNORD41 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:23234492-23235055 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:23235056-23235618 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:23235619-23236182 Neighboring gene ReSE screen-validated silencer GRCh37_chr14:23252646-23252816 Neighboring gene solute carrier family 7 member 7 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8140 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8141 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8142 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5588 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5589 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5590 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:23283939-23284445 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8143 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:23289156-23289728 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5591 Neighboring gene ReSE screen-validated silencer GRCh37_chr14:23292150-23292379 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:23293501-23294397 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8144 Neighboring gene mitochondrial ribosomal protein L52

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • MGC133129

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 
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 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

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

  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
    CCDS9573.2
    UniProtKB/Swiss-Prot
    A0A087X0L7, B4DPA2, Q15070
    UniProtKB/TrEMBL
    A0A384NLA7
    Related
    ENSP00000483491.2, ENST00000612549.6
    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: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060938.1 Alternate T2T-CHM13v2.0

    Range
    16964760..16971114
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)