Seroatlas · Human Serome Atlas

BCKDHA

2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial

Also known as: MSU, ODBA_HUMAN, OVD1A

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

Protein identityUniProt · HPA

UniProt accession
P12694
Gene
BCKDHA
Ensembl
ENSG00000248098
Chromosome
19
Canonical length
445 aa
Protein class
Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Plasma proteins, Potential drug targets, Predicted intracellular proteins

OverviewNCBI Gene

The branched-chain alpha-keto acid (BCAA) dehydrogenase (BCKD) complex is an innter mitochondrial enzyme complex that catalyzes the second major step in the catabolism of the branched-chain amino acids leucine, isoleucine, and valine. The BCKD complex consists of three catalytic components: a heterotetrameric (alpha2-beta2) branched-chain alpha-keto acid decarboxylase (E1), a dihydrolipoyl transacylase (E2), and a dihydrolipoamide dehydrogenase (E3). This gene encodes the alpha subunit of the decarboxylase (E1) component. Mutations in this gene result in maple syrup urine disease, type IA. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]

Canonical amino-acid sequenceUniProt

445 residues, UniProt reviewed canonical sequence.

>P12694|BCKDHA
     1  MAVAIAAARV WRLNRGLSQA ALLLLRQPGA RGLARSHPPR QQQQFSSLDD KPQFPGASAE
    61  FIDKLEFIQP NVISGIPIYR VMDRQGQIIN PSEDPHLPKE KVLKLYKSMT LLNTMDRILY
   121  ESQRQGRISF YMTNYGEEGT HVGSAAALDN TDLVFGQYRE AGVLMYRDYP LELFMAQCYG
   181  NISDLGKGRQ MPVHYGCKER HFVTISSPLA TQIPQAVGAA YAAKRANANR VVICYFGEGA
   241  ASEGDAHAGF NFAATLECPI IFFCRNNGYA ISTPTSEQYR GDGIAARGPG YGIMSIRVDG
   301  NDVFAVYNAT KEARRRAVAE NQPFLIEAMT YRIGHHSTSD DSSAYRSVDE VNYWDKQDHP
   361  ISRLRHYLLS QGWWDEEQEK AWRKQSRRKV MEAFEQAERK PKPNPNLLFS DVYQEMPAQL
   421  RKQQESLARH LQTYGEHYPL DHFDK

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against BCKDHA 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)
0.31
Highest tissue expression
123 nTPM

Expression across tissuesHPA

Tissue

  • liver: 123 nTPM
  • skeletal muscle: 117 nTPM
  • tongue: 114 nTPM
  • heart muscle: 103 nTPM
  • adrenal gland: 90 nTPM
  • esophagus: 79 nTPM

Single-cell type

  • esophageal apical cells: 12 nCPM
  • bergmann glia: 11 nCPM
  • parietal cells: 11 nCPM
  • oligodendrocyte progenitor cells: 9.6 nCPM
  • oligodendrocytes: 9.3 nCPM
  • other brain neurons: 8.8 nCPM

Immune cell

  • myeloid DC: 155 nTPM
  • classical monocyte: 150 nTPM
  • total PBMC: 126 nTPM
  • intermediate monocyte: 124 nTPM
  • non-classical monocyte: 96 nTPM
  • NK-cell: 83 nTPM

Brain region

  • white matter: 47 nTPM
  • choroid plexus: 43 nTPM
  • cerebellum: 42 nTPM
  • pons: 40 nTPM
  • thalamus: 40 nTPM
  • basal ganglia: 39 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about BCKDHA.

Disease | AllUniProt

Conditions BCKDHA is implicated in, by any mechanism.

Disease | GeneticClinVar

183 pathogenic / likely-pathogenic of 827 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

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)
1.03
gnomAD pLI
0
gnomAD missense Z
0.68
DepMap mean gene effect
-0.06
DepMap dependency class
none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% 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 BCKDHA 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 BCKDHA as an antibody target. Whether an autoantibody or antibody against BCKDHA could matter depends on whether native BCKDHA is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

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

Canonical record: https://seroatlas.com/gene/BCKDHA. 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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