Seroatlas · Human Serome Atlas

BCKDHB

2-oxoisovalerate dehydrogenase subunit beta, mitochondrial

Also known as: ODBB_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
P21953
Gene
BCKDHB
Ensembl
ENSG00000083123
Chromosome
6
Canonical length
392 aa
Protein class
Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins
Subcellular location
Nucleoplasm,Nucleoli,Mitochondria

OverviewNCBI Gene

This gene encodes the E1 beta subunit of branched-chain keto acid dehydrogenase, which is a multienzyme complex associated with the inner membrane of mitochondria. This enzyme complex functions in the catabolism of branched-chain amino acids. Mutations in this gene have been associated with maple syrup urine disease (MSUD), type 1B, a disease characterized by a maple syrup odor to the urine in addition to mental and physical retardation and feeding problems. Alternative splicing at this locus results in multiple transcript variants. [provided by RefSeq, Jan 2016]

Canonical amino-acid sequenceUniProt

392 residues, UniProt reviewed canonical sequence.

>P21953|BCKDHB
     1  MAVVAAAAGW LLRLRAAGAE GHWRRLPGAG LARGFLHPAA TVEDAAQRRQ VAHFTFQPDP
    61  EPREYGQTQK MNLFQSVTSA LDNSLAKDPT AVIFGEDVAF GGVFRCTVGL RDKYGKDRVF
   121  NTPLCEQGIV GFGIGIAVTG ATAIAEIQFA DYIFPAFDQI VNEAAKYRYR SGDLFNCGSL
   181  TIRSPWGCVG HGALYHSQSP EAFFAHCPGI KVVIPRSPFQ AKGLLLSCIE DKNPCIFFEP
   241  KILYRAAAEE VPIEPYNIPL SQAEVIQEGS DVTLVAWGTQ VHVIREVASM AKEKLGVSCE
   301  VIDLRTIIPW DVDTICKSVI KTGRLLISHE APLTGGFASE ISSTVQEECF LNLEAPISRV
   361  CGYDTPFPHI FEPFYIPDKW KCYDALRKMI NY

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against BCKDHB 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)
0.28
Highest tissue expression
73 nTPM

Expression across tissuesHPA

Tissue

  • liver: 73 nTPM
  • kidney: 30 nTPM
  • salivary gland: 25 nTPM
  • colon: 21 nTPM
  • breast: 21 nTPM
  • rectum: 19 nTPM

Single-cell type

  • bergmann glia: 487 nCPM
  • pituitary stem cells: 430 nCPM
  • astrocytes: 387 nCPM
  • podocytes: 357 nCPM
  • lacrimal acinar cells: 347 nCPM
  • sertoli cells: 346 nCPM

Immune cell

  • T-reg: 20 nTPM
  • NK-cell: 18 nTPM
  • MAIT T-cell: 13 nTPM
  • plasmacytoid DC: 13 nTPM
  • naive B-cell: 13 nTPM
  • naive CD8 T-cell: 12 nTPM

Brain region

  • white matter: 43 nTPM
  • medulla oblongata: 38 nTPM
  • spinal cord: 36 nTPM
  • choroid plexus: 35 nTPM
  • cerebellum: 35 nTPM
  • midbrain: 30 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about BCKDHB.

Disease | AllUniProt

Conditions BCKDHB is implicated in, by any mechanism.

Disease | GeneticClinVar

226 pathogenic / likely-pathogenic of 855 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Disease | ImmuneIEDB

Conditions an epitope on BCKDHB was assayed in.

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)
1.1
gnomAD pLI
0
gnomAD missense Z
-0.18
DepMap mean gene effect
-0.08
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% 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

Antibody and autoantibody relevanceSeroatlas analysis

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

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

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