Seroatlas · Human Serome Atlas

OXA1L

Mitochondrial inner membrane protein OXA1L

Also known as: MGC133129, OXA1, OXA1L_HUMAN, OXA1L1

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q15070
Gene: OXA1L
Ensembl: ENSG00000155463
Chromosome: 14
Canonical length: 435 aa
Protein class: Predicted membrane proteins, Transporters
Subcellular location: Mitochondria
Quaternary structure: Homooligomer

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

435 residues, UniProt reviewed canonical sequence.

>Q15070|OXA1L
     1  MAMGLMCGRR ELLRLLQSGR RVHSVAGPSQ WLGKPLTTRL LFPAAPCCCR PHYLFLAASG
    61  PRSLSTSAIS FAEVQVQAPP VVAATPSPTA VPEVASGETA DVVQTAAEQS FAELGLGSYT
   121  PVGLIQNLLE FMHVDLGLPW WGAIAACTVF ARCLIFPLIV TGQREAARIH NHLPEIQKFS
   181  SRIREAKLAG DHIEYYKASS EMALYQKKHG IKLYKPLILP VTQAPIFISF FIALREMANL
   241  PVPSLQTGGL WWFQDLTVSD PIYILPLAVT ATMWAVLELG AETGVQSSDL QWMRNVIRMM
   301  PLITLPITMH FPTAVFMYWL SSNLFSLVQV SCLRIPAVRT VLKIPQRVVH DLDKLPPREG
   361  FLESFKKGWK NAEMTRQLRE REQRMRNQLE LAARGPLRQT FTHNPLLQPG KDNPPNIPSS
   421  SSKPKSKYPW HDTLG

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against OXA1L can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Other membrane
Secreted: No
Transmembrane segments: 5
Mean surface accessibility (rSASA): 0.45
Highest tissue expression: 254 nTPM

Expression across tissuesHPA

Tissue

tongue: 254 nTPM
skeletal muscle: 215 nTPM
heart muscle: 129 nTPM
parathyroid gland: 99 nTPM
choroid plexus: 98 nTPM
liver: 83 nTPM

Single-cell type

hofbauer cells: 182 nCPM
decidual stromal cells: 181 nCPM
esophageal basal cells: 161 nCPM
kupffer cells: 141 nCPM
extravillous trophoblasts: 137 nCPM
esophageal suprabasal cells: 128 nCPM

Immune cell

myeloid DC: 95 nTPM
intermediate monocyte: 72 nTPM
classical monocyte: 68 nTPM
non-classical monocyte: 59 nTPM
T-reg: 56 nTPM
naive B-cell: 55 nTPM

Brain region

choroid plexus: 72 nTPM
thalamus: 39 nTPM
cerebellum: 38 nTPM
medulla oblongata: 38 nTPM
white matter: 37 nTPM
pons: 36 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about OXA1L.

Disease | GeneticClinVar

2 pathogenic / likely-pathogenic of 114 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Mitochondrial disease

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 1.05
gnomAD pLI: 0
gnomAD missense Z: -0.96
DepMap mean gene effect: -0.66
DepMap dependency class: common

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of OXA1L in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads OXA1L as an antibody target. Whether an autoantibody or antibody against OXA1L could matter depends on whether native OXA1L is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

OXA1L is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label OXA1L as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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