BDH1 3-hydroxybutyrate dehydrogenase 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: BDH1provided by HGNC
Official Full Name: 3-hydroxybutyrate dehydrogenase 1provided by HGNC
Primary source: HGNC:HGNC:1027
See related: Ensembl:ENSG00000161267 MIM:603063; AllianceGenome:HGNC:1027
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: BDH; SDR9C1
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]
Expression: Broad expression in liver (RPKM 11.8), colon (RPKM 4.8) and 19 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 3q29

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (197509783..197573343, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (200242414..200306032, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (197236654..197300214, complement)

Chromosome 3 - NC_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

D-beta-Hydroxybutyrate Dehydrogenase Mitigates Diabetes-Induced Atherosclerosis through the Activation of Nrf2.
Title: D-β-Hydroxybutyrate Dehydrogenase Mitigates Diabetes-Induced Atherosclerosis through the Activation of Nrf2.
MTA2 triggered R-loop trans-regulates BDH1-mediated beta-hydroxybutyrylation and potentiates propagation of hepatocellular carcinoma stem cells.
Title: MTA2 triggered R-loop trans-regulates BDH1-mediated β-hydroxybutyrylation and potentiates propagation of hepatocellular carcinoma stem cells.
Expression and clinical significance of BDH1 in liver cancer.
Title: Expression and clinical significance of BDH1 in liver cancer.
Data show that the ketone body metabolizing enzymes BDH1, BDH2, OXCT1 and ACAT1 were expressed at the mRNA and protein level in all glioma cell lines.
Title: Differential utilization of ketone bodies by neurons and glioma cell lines: a rationale for ketogenic diet as experimental glioma therapy.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

STS-H66146 (e-PCR)
- UniSTS:6408

SHGC-77706 (e-PCR)
- UniSTS:1822

D8S2279 (e-PCR)
- UniSTS:473907

D3S4168 (e-PCR)
- UniSTS:53836

SGC33667 (e-PCR)
- UniSTS:81046

WI-16787 (e-PCR)
- UniSTS:76478

RH12227 (e-PCR)
- UniSTS:40638

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables 3-hydroxybutyrate dehydrogenase activity	IBA Inferred from Biological aspect of Ancestor more info
enables 3-hydroxybutyrate dehydrogenase activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in steroid metabolic process	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in intracellular membrane-bounded organelle	IBA Inferred from Biological aspect of Ancestor more info
located_in matrix side of mitochondrial inner membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in mitochondrial matrix	TAS Traceable Author Statement more info
located_in mitochondrion	HTP more info	PubMed
located_in mitochondrion	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: D-beta-hydroxybutyrate dehydrogenase, mitochondrial

Names: (R)-3-hydroxybutyrate dehydrogenase; 3-hydroxybutyrate dehydrogenase (heart, mitochondrial); 3-hydroxybutyrate dehydrogenase, type 1; epididymis secretory sperm binding protein; short chain dehydrogenase/reductase family 9C member 1

NP_004042.1

EC 1.1.1.30

NP_976059.1

EC 1.1.1.30

NP_976060.1

EC 1.1.1.30

XP_005269409.1

EC 1.1.1.30

XP_011511369.1

EC 1.1.1.30

XP_016862504.1

EC 1.1.1.30

XP_047304635.1

EC 1.1.1.30

XP_047304636.1

EC 1.1.1.30

XP_047304637.1

EC 1.1.1.30

XP_047304638.1

EC 1.1.1.30

XP_054203450.1

EC 1.1.1.30

XP_054203451.1

EC 1.1.1.30

XP_054203452.1

EC 1.1.1.30

XP_054203453.1

EC 1.1.1.30

XP_054203454.1

EC 1.1.1.30

XP_054203455.1

EC 1.1.1.30

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_004051.5 → NP_004042.1 D-beta-hydroxybutyrate dehydrogenase, mitochondrial precursor

See identical proteins and their annotated locations for NP_004042.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the predominant transcript. Variants 1, 2, and 3 encode the same protein.

Source sequence(s)

AC128709, BC005844

Consensus CDS

CCDS3328.1

UniProtKB/Swiss-Prot

D3DXC0, Q02338, Q96ET1, Q9BRZ4

UniProtKB/TrEMBL

A0A384MTY4

Related

ENSP00000376183.2, ENST00000392378.6

Conserved Domains (1) summary

cd09805
Location:56 → 341

type2_17beta_HSD-like_SDR_c; human 17beta-hydroxysteroid dehydrogenase type 2 (type 2 17beta-HSD)-like, classical (c) SDRs
NM_203314.3 → NP_976059.1 D-beta-hydroxybutyrate dehydrogenase, mitochondrial precursor

See identical proteins and their annotated locations for NP_976059.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) includes an additional exon in the 5' UTR compared to variant 1. Variants 1, 2, and 3 encode the same protein.

Source sequence(s)

AC128709, BC005844

Consensus CDS

CCDS3328.1

UniProtKB/Swiss-Prot

D3DXC0, Q02338, Q96ET1, Q9BRZ4

UniProtKB/TrEMBL

A0A384MTY4

Related

ENSP00000376184.1, ENST00000392379.6

Conserved Domains (1) summary

cd09805
Location:56 → 341

type2_17beta_HSD-like_SDR_c; human 17beta-hydroxysteroid dehydrogenase type 2 (type 2 17beta-HSD)-like, classical (c) SDRs
NM_203315.3 → NP_976060.1 D-beta-hydroxybutyrate dehydrogenase, mitochondrial precursor

See identical proteins and their annotated locations for NP_976060.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2, and 3 encode the same protein.

Source sequence(s)

AC128709, AC132008, AV645953, BC005844, H80183

Consensus CDS

CCDS3328.1

UniProtKB/Swiss-Prot

D3DXC0, Q02338, Q96ET1, Q9BRZ4

UniProtKB/TrEMBL

A0A384MTY4

Related

ENSP00000350914.2, ENST00000358186.6

Conserved Domains (1) summary

cd09805
Location:56 → 341

type2_17beta_HSD-like_SDR_c; human 17beta-hydroxysteroid dehydrogenase type 2 (type 2 17beta-HSD)-like, classical (c) SDRs

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000003.12 Reference GRCh38.p14 Primary Assembly

Range

197509783..197573343 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047448679.1 → XP_047304635.1 D-beta-hydroxybutyrate dehydrogenase, mitochondrial isoform X2

UniProtKB/Swiss-Prot

D3DXC0, Q02338, Q96ET1, Q9BRZ4

UniProtKB/TrEMBL

A0A384MTY4
XM_047448680.1 → XP_047304636.1 D-beta-hydroxybutyrate dehydrogenase, mitochondrial isoform X2

UniProtKB/Swiss-Prot

D3DXC0, Q02338, Q96ET1, Q9BRZ4

UniProtKB/TrEMBL

A0A384MTY4
XM_005269352.4 → XP_005269409.1 D-beta-hydroxybutyrate dehydrogenase, mitochondrial isoform X2

See identical proteins and their annotated locations for XP_005269409.1

UniProtKB/Swiss-Prot

D3DXC0, Q02338, Q96ET1, Q9BRZ4

UniProtKB/TrEMBL

A0A384MTY4

Conserved Domains (1) summary

cd09805
Location:56 → 341

type2_17beta_HSD-like_SDR_c; human 17beta-hydroxysteroid dehydrogenase type 2 (type 2 17beta-HSD)-like, classical (c) SDRs
XM_047448682.1 → XP_047304638.1 D-beta-hydroxybutyrate dehydrogenase, mitochondrial isoform X4

UniProtKB/TrEMBL

E9PCG9

Related

ENSP00000411014.1, ENST00000441275.5
XM_047448681.1 → XP_047304637.1 D-beta-hydroxybutyrate dehydrogenase, mitochondrial isoform X3
XM_011513067.4 → XP_011511369.1 D-beta-hydroxybutyrate dehydrogenase, mitochondrial isoform X1

Conserved Domains (2) summary

cd09805
Location:60 → 345

type2_17beta_HSD-like_SDR_c; human 17beta-hydroxysteroid dehydrogenase type 2 (type 2 17beta-HSD)-like, classical (c) SDRs

pfam00106
Location:60 → 245

adh_short; short chain dehydrogenase
XM_017007015.2 → XP_016862504.1 D-beta-hydroxybutyrate dehydrogenase, mitochondrial isoform X5

Conserved Domains (1) summary

cl21454
Location:1 → 204

NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

Reference GRCh38.p14 ALT_REF_LOCI_1

Genomic

NT_187534.1 Reference GRCh38.p14 ALT_REF_LOCI_1

Range

2915..49100

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060927.1 Alternate T2T-CHM13v2.0

Range

200242414..200306032 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054347477.1 → XP_054203452.1 D-beta-hydroxybutyrate dehydrogenase, mitochondrial isoform X2

UniProtKB/Swiss-Prot

D3DXC0, Q02338, Q96ET1, Q9BRZ4

UniProtKB/TrEMBL

A0A384MTY4
XM_054347476.1 → XP_054203451.1 D-beta-hydroxybutyrate dehydrogenase, mitochondrial isoform X2

UniProtKB/Swiss-Prot

D3DXC0, Q02338, Q96ET1, Q9BRZ4

UniProtKB/TrEMBL

A0A384MTY4
XM_054347478.1 → XP_054203453.1 D-beta-hydroxybutyrate dehydrogenase, mitochondrial isoform X2

UniProtKB/Swiss-Prot

D3DXC0, Q02338, Q96ET1, Q9BRZ4

UniProtKB/TrEMBL

A0A384MTY4
XM_054347479.1 → XP_054203454.1 D-beta-hydroxybutyrate dehydrogenase, mitochondrial isoform X3
XM_054347475.1 → XP_054203450.1 D-beta-hydroxybutyrate dehydrogenase, mitochondrial isoform X1
XM_054347480.1 → XP_054203455.1 D-beta-hydroxybutyrate dehydrogenase, mitochondrial isoform X5