Seroatlas · Human Serome Atlas

BOLA3

BolA-like protein 3

Also known as: BOLA3_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
Q53S33
Gene
BOLA3
Ensembl
ENSG00000163170
Chromosome
2
Canonical length
107 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location
Nuclear bodies,Mitochondria,Cytosol

OverviewNCBI Gene

This gene encodes a protein that plays an essential role in the production of iron-sulfur (Fe-S) clusters for the normal maturation of lipoate-containing 2-oxoacid dehydrogenases, and for the assembly of the mitochondrial respiratory chain complexes. Mutation in this gene has been associated with multiple mitochondrial dysfunctions syndrome-2. Two alternatively spliced transcript variants encoding different isoforms with distinct subcellular localization have been reported for this gene (PMID:21944046). [provided by RefSeq, Dec 2011]

Canonical amino-acid sequenceUniProt

107 residues, UniProt reviewed canonical sequence.

>Q53S33|BOLA3
     1  MAAWSPAAAA PLLRGIRGLP LHHRMFATQT EGELRVTQIL KEKFPRATAI KVTDISGGCG
    61  AMYEIKIESE EFKEKRTVQQ HQMVNQALKE EIKEMHGLRI FTSVPKR

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against BOLA3 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
Intracellular
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.45
Highest tissue expression
162 nTPM

Expression across tissuesHPA

Tissue

  • tongue: 162 nTPM
  • skeletal muscle: 111 nTPM
  • heart muscle: 104 nTPM
  • kidney: 71 nTPM
  • cerebral cortex: 64 nTPM
  • basal ganglia: 64 nTPM

Single-cell type

  • parietal cells: 476 nCPM
  • extravillous trophoblasts: 222 nCPM
  • esophageal basal cells: 211 nCPM
  • enteric transient amplifying cells: 190 nCPM
  • hofbauer cells: 152 nCPM
  • megakaryocytes: 148 nCPM

Immune cell

  • memory CD4 T-cell: 93 nTPM
  • T-reg: 92 nTPM
  • naive CD4 T-cell: 80 nTPM
  • MAIT T-cell: 76 nTPM
  • memory CD8 T-cell: 73 nTPM
  • naive CD8 T-cell: 69 nTPM

Brain region

  • cerebellum: 34 nTPM
  • medulla oblongata: 30 nTPM
  • hypothalamus: 29 nTPM
  • pons: 28 nTPM
  • white matter: 27 nTPM
  • choroid plexus: 26 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about BOLA3.

Disease | AllUniProt

Conditions BOLA3 is implicated in, by any mechanism.

  • Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia (MMDS2) MIM:614299

Disease | GeneticClinVar

8 pathogenic / likely-pathogenic of 117 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Multiple mitochondrial dysfunctions syndrome 2
  • BOLA3-related disorder

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)
1.06
gnomAD pLI
0.15
gnomAD missense Z
0.55
DepMap mean gene effect
-0.19
DepMap dependency class
selective

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

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of BOLA3 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 BOLA3 as an antibody target. Whether an autoantibody or antibody against BOLA3 could matter depends on whether native BOLA3 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

BOLA3 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 BOLA3 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/BOLA3. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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