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BDH1

GENERAL INFORMATION

Gene name

 BDH1

Gene description

 3-hydroxybutyrate dehydrogenase, type 1

Protein class

 Candidate cardiovascular disease genes
Enzymes
Predicted intracellular proteins

Predicted localization

 Intracellular

Number of transcripts

 10
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Tissue enriched (liver)
GTEx:Expressed in all
FANTOM5:Mixed

Protein evidence

 Evidence at protein level

Protein expression

 Cytoplasmic expression with a granular pattern in several tissues.

DATA RELIABILITY

Data reliability
description

 Antibody staining mainly consistent with RNA expression data.

Reliability score

 Approved based on 1 antibody.
HPA030947
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enriched (liver)
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Mixed

GENE INFORMATION

Gene name

 BDH1 (HGNC Symbol)

Synonyms

 BDH, SDR9C1

Description

 3-hydroxybutyrate dehydrogenase, type 1 (HGNC Symbol)

Entrez gene summary

 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]

Chromosome

 3

Cytoband

 q29

Chromosome location (bp)

 197509783 - 197573323

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000161267 (version 83.38)

Entrez gene

 622

UniProt

 Q02338 (UniProt - Evidence at protein level)

neXtProt

 NX_Q02338

Antibodypedia

 BDH1 antibodies

PROTEIN BROWSER
BDH1-001
BDH1-002
BDH1-006
BDH1-008
BDH1-009
BDH1-011
BDH1-015
BDH1-016
BDH1-201
BDH1-202

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
BDH1-001
ENSP00000376183
ENST00000392378
Q02338 [Direct mapping]
D-beta-hydroxybutyrate dehydrogenase, mitochondrial
Show all
Enzymes
   ENZYME proteins
   Oxidoreductases
   MEMSAT3 predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
Candidate cardiovascular disease genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003858 [3-hydroxybutyrate dehydrogenase activity]
GO:0005654 [nucleoplasm]
GO:0005737 [cytoplasm]
GO:0005739 [mitochondrion]
GO:0005759 [mitochondrial matrix]
GO:0008152 [metabolic process]
GO:0016491 [oxidoreductase activity]
GO:0044255 [cellular lipid metabolic process]
GO:0044281 [small molecule metabolic process]
GO:0046950 [cellular ketone body metabolic process]
GO:0046951 [ketone body biosynthetic process]
GO:0046952 [ketone body catabolic process]
GO:0055114 [oxidation-reduction process]
Show all
 343 aa
38.2 kDa 		No 0
BDH1-002
ENSP00000411014
ENST00000441275
E9PCG9 [Direct mapping]
D-beta-hydroxybutyrate dehydrogenase, mitochondrial
Show all
   MEMSAT3 predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005654 [nucleoplasm]
GO:0005739 [mitochondrion]
GO:0008152 [metabolic process]
GO:0016491 [oxidoreductase activity]
GO:0055114 [oxidation-reduction process]
Show all
 256 aa
29 kDa 		No 0
BDH1-006
ENSP00000409849
ENST00000432819
C9JQ90 [Direct mapping]
D-beta-hydroxybutyrate dehydrogenase, mitochondrial
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005737 [cytoplasm]
GO:0005739 [mitochondrion]
GO:0008152 [metabolic process]
GO:0016491 [oxidoreductase activity]
GO:0055114 [oxidation-reduction process]
Show all
 186 aa
20.3 kDa 		No 0
BDH1-008
ENSP00000387648
ENST00000446746
C9K0G7 [Direct mapping]
D-beta-hydroxybutyrate dehydrogenase, mitochondrial
Show all
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0008152 [metabolic process]
GO:0016491 [oxidoreductase activity]
GO:0055114 [oxidation-reduction process]
Show all
 166 aa
18.4 kDa 		No 0
BDH1-009
ENSP00000405462
ENST00000445160
C9JB83 [Direct mapping]
D-beta-hydroxybutyrate dehydrogenase, mitochondrial
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
 50 aa
5.4 kDa 		No 0
BDH1-011
ENSP00000408685
ENST00000434143
C9JM78 [Direct mapping]
D-beta-hydroxybutyrate dehydrogenase, mitochondrial
Show all
   SPOCTOPUS predicted membrane proteins
   Phobius predicted secreted proteins
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005737 [cytoplasm]
GO:0005739 [mitochondrion]
GO:0008152 [metabolic process]
GO:0016491 [oxidoreductase activity]
GO:0055114 [oxidation-reduction process]
Show all
 169 aa
18.4 kDa 		No 0
BDH1-015
ENSP00000408016
ENST00000455876
H7C2W1 [Direct mapping]
D-beta-hydroxybutyrate dehydrogenase, mitochondrial
Show all
   SCAMPI predicted membrane proteins
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0008152 [metabolic process]
GO:0016491 [oxidoreductase activity]
GO:0055114 [oxidation-reduction process]
Show all
 129 aa
14.5 kDa 		No 0
BDH1-016
ENSP00000396149
ENST00000431056
C9JEB9 [Direct mapping]
D-beta-hydroxybutyrate dehydrogenase, mitochondrial
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
 89 aa
9.4 kDa 		No 0
BDH1-201
ENSP00000350914
ENST00000358186
Q02338 [Direct mapping]
D-beta-hydroxybutyrate dehydrogenase, mitochondrial
Show all
Enzymes
   ENZYME proteins
   Oxidoreductases
   MEMSAT3 predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
Candidate cardiovascular disease genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003858 [3-hydroxybutyrate dehydrogenase activity]
GO:0005654 [nucleoplasm]
GO:0005737 [cytoplasm]
GO:0005739 [mitochondrion]
GO:0005759 [mitochondrial matrix]
GO:0008152 [metabolic process]
GO:0016491 [oxidoreductase activity]
GO:0044255 [cellular lipid metabolic process]
GO:0044281 [small molecule metabolic process]
GO:0046950 [cellular ketone body metabolic process]
GO:0046951 [ketone body biosynthetic process]
GO:0046952 [ketone body catabolic process]
GO:0055114 [oxidation-reduction process]
Show all
 343 aa
38.2 kDa 		No 0
BDH1-202
ENSP00000376184
ENST00000392379
Q02338 [Direct mapping]
D-beta-hydroxybutyrate dehydrogenase, mitochondrial
Show all
Enzymes
   ENZYME proteins
   Oxidoreductases
   MEMSAT3 predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
Candidate cardiovascular disease genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001889 [liver development]
GO:0003858 [3-hydroxybutyrate dehydrogenase activity]
GO:0005543 [phospholipid binding]
GO:0005654 [nucleoplasm]
GO:0005737 [cytoplasm]
GO:0005739 [mitochondrion]
GO:0005743 [mitochondrial inner membrane]
GO:0005759 [mitochondrial matrix]
GO:0007420 [brain development]
GO:0007584 [response to nutrient]
GO:0008152 [metabolic process]
GO:0009636 [response to toxic substance]
GO:0009725 [response to hormone]
GO:0016491 [oxidoreductase activity]
GO:0032355 [response to estradiol]
GO:0032868 [response to insulin]
GO:0042493 [response to drug]
GO:0042594 [response to starvation]
GO:0044255 [cellular lipid metabolic process]
GO:0044281 [small molecule metabolic process]
GO:0045471 [response to ethanol]
GO:0046686 [response to cadmium ion]
GO:0046950 [cellular ketone body metabolic process]
GO:0046951 [ketone body biosynthetic process]
GO:0046952 [ketone body catabolic process]
GO:0051412 [response to corticosterone]
GO:0055114 [oxidation-reduction process]
GO:0060416 [response to growth hormone]
GO:0060612 [adipose tissue development]
Show all
 343 aa
38.2 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.