Seroatlas · Human Serome Atlas

BDH1

D-beta-hydroxybutyrate dehydrogenase, mitochondrial

Also known as: BDH, BDH_HUMAN, SDR9C1

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

Protein identityUniProt · HPA

UniProt accession
Q02338
Gene
BDH1
Ensembl
ENSG00000161267
Chromosome
3
Canonical length
343 aa
Protein class
Candidate cardiovascular disease genes, Enzymes, Metabolic proteins, Predicted intracellular proteins
Subcellular location
Nucleoplasm,Mitochondria
Quaternary structure
Homotetramer

OverviewNCBI Gene

This gene encodes a member of the short-chain dehydrogenase/reductase gene family. The encoded protein forms a homotetrameric lipid-requiring enzyme of the mitochondrial membrane and has a specific requirement for phosphatidylcholine for optimal enzymatic activity. The encoded protein catalyzes the interconversion of acetoacetate and (R)-3-hydroxybutyrate, the two major ketone bodies produced during fatty acid catabolism. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

343 residues, UniProt reviewed canonical sequence.

>Q02338|BDH1
     1  MLATRLSRPL SRLPGKTLSA CDRENGARRP LLLGSTSFIP IGRRTYASAA EPVGSKAVLV
    61  TGCDSGFGFS LAKHLHSKGF LVFAGCLMKD KGHDGVKELD SLNSDRLRTV QLNVCSSEEV
   121  EKVVEIVRSS LKDPEKGMWG LVNNAGISTF GEVEFTSLET YKQVAEVNLW GTVRMTKSFL
   181  PLIRRAKGRV VNISSMLGRM ANPARSPYCI TKFGVEAFSD CLRYEMYPLG VKVSVVEPGN
   241  FIAATSLYSP ESIQAIAKKM WEELPEVVRK DYGKKYFDEK IAKMETYCSS GSTDTSPVID
   301  AVTHALTATT PYTRYHPMDY YWWLRMQIMT HLPGAISDMI YIR

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against BDH1 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
0
Mean surface accessibility (rSASA)
0.31
Highest tissue expression
302 nTPM

Expression across tissuesHPA

Tissue

  • liver: 302 nTPM
  • heart muscle: 49 nTPM
  • cerebellum: 49 nTPM
  • esophagus: 44 nTPM
  • colon: 40 nTPM
  • choroid plexus: 39 nTPM

Single-cell type

  • choroid plexus epithelial cells: 138 nCPM
  • brain excitatory neurons: 83 nCPM
  • brain inhibitory neurons: 81 nCPM
  • distal convoluted tubule cells: 70 nCPM
  • oligodendrocyte progenitor cells: 62 nCPM
  • loop of henle epithelial cells: 54 nCPM

Immune cell

  • naive CD4 T-cell: 7.6 nTPM
  • MAIT T-cell: 6.5 nTPM
  • memory B-cell: 5.2 nTPM
  • memory CD4 T-cell: 5.1 nTPM
  • naive B-cell: 4.7 nTPM
  • gdT-cell: 4.6 nTPM

Brain region

  • choroid plexus: 52 nTPM
  • cerebral cortex: 28 nTPM
  • cerebellum: 26 nTPM
  • basal ganglia: 24 nTPM
  • thalamus: 21 nTPM
  • hippocampal formation: 21 nTPM

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)
1.39
gnomAD pLI
0
gnomAD missense Z
0.41
DepMap mean gene effect
0.01
DepMap dependency class
none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 9% 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 BDH1 as an antibody target. Whether an autoantibody or antibody against BDH1 could matter depends on whether native BDH1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

BDH1 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 BDH1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/BDH1. 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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