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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

BDH1 Gene

protein-coding GIFtS: 62
GCID: GC03M197236

3-hydroxybutyrate dehydrogenase, type 1

(Previous names: 3-hydroxybutyrate dehydrogenase (heart, mitochondrial)...)
(Previous symbol: BDH)

Explore 13 diseases affiliated with
BDH1 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
3-Hydroxybutyrate Dehydrogenase, Type 1¹ ²		(R)-3-Hydroxybutyrate Dehydrogenase²
BDH¹ ² ³		D-Beta-Hydroxybutyrate Dehydrogenase, Mitochondrial²
3-Hydroxybutyrate Dehydrogenase (Heart, Mitochondrial)¹ ²		Short Chain Dehydrogenase/Reductase Family 9C, Member 1²
SDR9C1¹ ²		3-Hydroxybutyrate Dehydrogenase³
EC 1.1.1.30³ ⁸		EC 1.1.1⁸

External Ids:	HGNC: 1027¹	Entrez Gene: 622²	Ensembl: ENSG00000161267⁷	OMIM: 603063⁵	UniProtKB: Q02338³

Export aliases for BDH1 gene to outside databases

Previous GC identifers: GC03M198727 GC03M194539

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for BDH1:

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)

Gene Wiki entry for BDH1

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000003.11 NC_018914.1 NT_029928.13

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the BDH1 gene promoter:
AREB6 CREB Pax-5 Meis-1a NF-kappaB1 Meis-1b Meis-1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): BDH1 promoter sequence

Search SABiosciences Chromatin IP Primers for BDH1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat BDH1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 3q29 Ensembl cytogenetic band: 3q29 HGNC cytogenetic band: 3q29

BDH1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BDH1 gene location

GeneLoc information about chromosome 3 GeneLoc Exon Structure

GeneLoc location for GC03M197236: view genomic region (about GC identifiers)

Start:	197,236,654 bp from pter	End:	197,300,194 bp from pter
Size:	63,541 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: BDH_HUMAN, Q02338 (See protein sequence)

Recommended Name: D-beta-hydroxybutyrate dehydrogenase, mitochondrial precursor

Size: 343 amino acids; 38157 Da

Subunit: Homotetramer

Subcellular location: Mitochondrion matrix

Sequence caution: Sequence=AAA58352.1; Type=Frameshift; Positions=124, 134;

Secondary accessions: D3DXC0 Q96ET1 Q9BRZ4

Explore the universe of human proteins at neXtProt for BDH1: NX_Q02338

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q02338

4/7 DME Specific Peptides for BDH1 (Q02338) (see all 7)

GVEAFSD

GLVNNAG

TGCDSGFG

VEPGNFIA

BDH1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (3 alternative transcripts):

NP_004042.1 NP_976059.1 NP_976060.1

ENSEMBL proteins:

ENSP00000376183 ENSP00000411014 ENSP00000387648 ENSP00000408016 ENSP00000408685

ENSP00000409849 ENSP00000396149 ENSP00000405462 ENSP00000350914 ENSP00000376184

Reactome Protein details: Q02338
Human Recombinant Protein Products for BDH1:

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	Uscn Proteins for BDH1

Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	IDA	--
GO:0005730	NOT nucleolus	IDA	--
GO:0005739	mitochondrion	IDA	--
GO:0005743	mitochondrial inner membrane	IEA	--
GO:0005759	mitochondrial matrix	TAS	--

BDH1 for ontologies About GeneDecksing

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(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

BDH1 for domains About GeneDecksing

4 InterPro domains/families:

IPR020904 Sc_DH/Rdtase_CS

IPR002347 Glc/ribitol_DH

IPR002198 DH_sc/Rdtase_SDR

IPR016040 NAD(P)-bd_dom

Graphical View of Domain Structure for InterPro Entry Q02338

ProtoNet protein and cluster: Q02338

1 Blocks protein family: IPB002198 Short-chain dehydrogenase/reductase SDR

UniProtKB/Swiss-Prot: BDH_HUMAN, Q02338

Similarity: Belongs to the short-chain dehydrogenases/reductases (SDR) family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: BDH_HUMAN, Q02338

Catalytic activity: (R)-3-hydroxybutanoate + NAD(+) = acetoacetate + NADH

Enzyme regulation: Requires phosphatidylcholine as an allosteric activator for enzymatic activity

Enzyme Numbers (IUBMB): EC 1.1.1.30¹ ² EC 1.1.1²

Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000166	nucleotide binding	IEA	--
GO:0003858	3-hydroxybutyrate dehydrogenase activity	TAS	--
GO:0005543	phospholipid binding	IEA	--
GO:0016491	oxidoreductase activity	--	--

BDH1 for ontologies About GeneDecksing

Animal Models:

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for BDH1

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BDH1

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Ketone body metabolism

Ketone body metabolism	1.00	Utilization of Ketone Bodies	0.60
Synthesis and Degradation of Ketone Bodies	1.00	Synthesis and degradation of ketone bodies	0.56
Synthesis of Ketone Bodies	0.80	Butanoate metabolism	0.17

Metabolism

	Metabolism	1.00			Metabolism of lipids and lipoproteins	0.34
	Metabolic pathways	0.38

ketolysis

ketolysis

1.00

ketogenesis

0.57

FOXA2 and FOXA3 transcription factor networks

FOXA2 and FOXA3 transcription factor networks

1.00

Regulation of Lipid Metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)

Fatty acid, triacylglycerol, and ketone body metabolism

0.52

Pathway sources
See GeneCards unified pathways
Show all pathways

4 BioSystems Pathways for BDH1

	Synthesis and Degradation of Ketone Bodies
	ketogenesis
	ketolysis
	FOXA2 and FOXA3 transcription factor networks

5/6 Reactome Pathways for BDH1 (see all 6)

	Ketone body metabolism
	Synthesis of Ketone Bodies
	Metabolism
	Fatty acid, triacylglycerol, and ketone body metabolism
	Metabolism of lipids and lipoproteins

3 Kegg Pathways (Kegg details for BDH1):

	Synthesis and degradation of ketone bodies
	Butanoate metabolism
	Metabolic pathways

BDH1 for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for BDH1

STRING Interaction Network Preview (showing 5 interactants - click image to see 6)

5/8 Interacting proteins for BDH1 (Q02338³ ENSP00000350914⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 8)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
GRID2	O43424³	I2D: score=1
YWHAB	P31946³	I2D: score=1
AACS	ENSP00000324842⁴	STRING: ENSP00000324842
HMGCL	ENSP00000363614⁴	STRING: ENSP00000363614
OXCT1	ENSP00000196371⁴	STRING: ENSP00000196371

About this table

Gene Ontology (GO): 5/20 biological process terms (GO ID links to tree view) (see all 20): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001889	liver development	IEA	--
GO:0007420	brain development	IEA	--
GO:0007584	response to nutrient	IEA	--
GO:0008152	metabolic process	TAS	--
GO:0009636	response to toxin	IEA	--

BDH1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

BDH1 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for BDH1

10/1080 HMDB Compounds for BDH1 (see all 1080) About this table

Compound	Synonyms	CAS #	PubMed Ids
(R)-3-Hydroxybutyric acid	(R)-(-)-b-Hydroxybutyrate (see all 20)	625-72-9	--
3-Hydroxybutyric acid	3-OH-butyric acid (see all 27)	300-85-6	--
Acetoacetic acid	3-Ketobutyrate (see all 9)	541-50-4	--
NAD	3-Carbamoyl-1-D-ribofuranosylpyridinium hydroxide 5'-ester with adenosine 5'-pyrophosphate (see all 28)	53-84-9	--
NADH	1,4-Dihydronicotinamide adenine dinucleotide (see all 17)	58-68-4	--
PC(14:0/14:0)	Phosphatidylcholine(14:0/14:0) (see all 8)	--	--
PC(14:0/14:1(9Z))	Phosphatidylcholine(14:0/14:1) (see all 14)	--	--
PC(14:0/15:0)	GPCho(14:0/15:0) (see all 8)	--	--
PC(14:0/16:0)	GPCho(30:0) (see all 8)	--	--
PC(14:0/16:1(9Z))	1-myristoyl-2-palmitoleoyl-sn-glycero-3-phosphocholine (see all 14)	--	--

1 DrugBank Compound for BDH1 About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
NADH	beta-DPNH (see all 18)	606-68-8	target	--	17139284 2550053 17016423 38961 8533882

7 Novoseek chemical compound relationships for BDH1 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
beta-hydroxybutyrate	89	63	8533882 (4), 19219638 (4), 10933785 (2), 8679568 (2) (see all 18)
acetoacetate	83.2	5	8533882 (2), 10933785 (1), 11918279 (1)
nadh	74.2	9	8533882 (4), 1883629 (1), 10933785 (1), 8679568 (1) (see all 5)
nad+	71.1	3	10933785 (1), 8679568 (1)
phosphatidylcholine	37.8	12	10933785 (3), 11009606 (3), 8679568 (2)
lipid	8.52	8	8679568 (3), 10933785 (2), 11009606 (2)
glutamate	2.48	3	1883629 (1), 2363494 (1)

Search CenterWatch for drugs/clinical trials and news about BDH1 / BDH

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for BDH1 gene (3 alternative transcripts):

NM_004051.4 NM_203314.2 NM_203315.2

Unigene Cluster for BDH1:

3-hydroxybutyrate dehydrogenase, type 1

Hs.274539 [show with all ESTs]

Unigene Representative Sequence: NM_203314

17 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000392378(uc003fxs.3) ENST00000441275 ENST00000479425 ENST00000446746

ENST00000455876 ENST00000477015 ENST00000434143 ENST00000483920 ENST00000432819

ENST00000495285 ENST00000431056 ENST00000445160 ENST00000468710 ENST00000492681

ENST00000476764 ENST00000358186(uc003fxu.3) ENST00000392379(uc003fxr.3)

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Additional cDNA sequence:

BC005844.2 BC011964.1 BC019317.1 EF095211.1 M93107.1

15 DOTS entries:

DT.448224 DT.91764171 DT.86852233 DT.111383 DT.75140849 DT.91698432 DT.91989322 DT.99965673

DT.75103050 DT.95255916 DT.95355352 DT.97843976 DT.114817 DT.120846005 DT.91811188

24/179 AceView cDNA sequences (see all 179):

BC005844 BI756191 BQ889655 BC011964 BF799614 CR626354 CA311474 CR599815

BQ897235 BX101019 AA707038 BQ214207 BM804708 AI823708 BQ895997 NM_203315

CK431183 NM_203314 BU902422 H57358 BI767253 CR611996 BC019317 NM_004051

GeneLoc Exon Structure

5/10 Alternative Splicing Database (ASD) splice patterns (SP) for BDH1 (see all 10) About this scheme

ExUns:	1a	·	1b	·	1c	·	1d	·	1e	·	1f	·	1g	^	2a	·	2b	^	3a	·	3b	^	4	^	5a	·	5b	^	6	^	7a	·	7b	·	7c	^	8a	·	8b	^	9a	·	9b	·	9c	^	10a	·	10b	·	10c
SP1:															-		-		-		-				-						-		-		-		-
SP2:															-		-				-				-						-		-		-		-
SP3:															-				-		-				-						-		-		-		-
SP4:															-		-				-				-
SP5:															-		-		-		-		-		-						-		-		-		-

ECgene alternative splicing isoforms for BDH1

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

BDH1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GTGAATCTAT

About this image

BDH1 expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

6 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Gut Tube

Hindgut

Hindgut Endoderm Cells

Endoderm

Gut Tube

Midgut

Midgut Endoderm Cells

Endoderm

Cartilage

Gut Tube

Gut Tube

Liver

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

Definitive endoderm-like cells (A scalable, suspensi...)

See BDH1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for BDH1

SOURCE GeneReport for Unigene cluster: Hs.274539

SABiosciences Expression via Pathway-Focused PCR Array including BDH1:

Fatty Acid Metabolism in human mouse rat

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In Situ
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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the last universal common ancestor (LUCA).

Orthologs for BDH1 gene from 8/23 species (see all 23) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	BDH1¹	3-hydroxybutyrate dehydrogenase, type 1	74.06(n) 71.01(a)		424891 NM_001006547.1 NP_001006547.1
lizard (Anolis carolinensis)	Reptilia	-- -- (see all 6)	--	78(a) 66(a) (see all 6)	1 ↔ many 1 ↔ many (see all 6)	AAWZ02040337(165-3071) 2(67864602-67865633)
tropical clawed frog (Xenopus tropicalis)	Amphibia	Str.11989²	Transcribed sequence with weak similarity to protein more	68.9(n)		BX712090.1
zebrafish (Danio rerio)	Actinopterygii	bdh1¹	3-hydroxybutyrate dehydrogenase, type 1	65.62(n) 62.02(a)		100037356 NM_001089509.1 NP_001082978.1
fruit fly (Drosophila melanogaster)	Insecta	CG8888¹	CG8888	48.07(n) 33.33(a)		36293 NM_136880.2 NP_610724.1
thale cress (Arabidopsis thaliana)	eudicotyledons	AT5G10050⁶ AT5G65205⁶	1-acylglycerone phosphate reductase Rossmann-fold NAD(P)-binding domain-containing pro...	23(a) 21(a)	possible ortholog possible ortholog	5(3144200-3145730) 5(26050810-26052034)
rice (Oryza sativa)	Liliopsida	-- --	oxidoreductase, short chain dehydrogenase/reductas... oxidoreductase, short chain dehydrogenase/reductas...	22(a) 18(a)	possible ortholog possible ortholog	12(27135120-27136028) 4(22652738-22655412)
E. coli (Escherichia coli)	Gamma proteobacteria	ybbO⁶	predicted oxidoreductase with NAD(P)-binding Rossm...	27(a)	possible ortholog	Chromosome(517564-518373)

ENSEMBL Gene Tree for BDH1 (if available)
TreeFam Gene Tree for BDH1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for BDH1 gene

SDR9C7² DHRS9² HSD11B2² HSD17B6² HSD17B2² RDH8² RDH16² DHRS7B²

DHRS7² HSD17B1² KDSR² DHRS7C² RDH5²

11 SIMAP similar genes for BDH1 using alignment to 8 protein entries: BDH_HUMAN (see all proteins):

HSD17B6 RDHL DHRS9 DHRS7 SDR9C7 RDH16

RDH5 HSD11B2 HSD17B2 RDH8 HSD17B1

BDH1 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
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SNP ID	Valid	Clinical significance	Chr 3 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs139906537^1,2		--	197236160(+)	`CTCCCA/GAGTAG`	3	--	ds500¹		0	--	--	--	--
rs184976998^1,2		--	197236179(+)	`ACAGGC/TGCCCA`	3	--	ds500¹		0	--	--	--	--
rs2567369^1,2	C,F,A	--	197236327(+)	`ACCGCA/GCCCGG`	3	--	ds500¹		5		NA EA	246
rs114658192^1,2	F	--	197236352(+)	`AAAGAC/TGAAAA`	3	--	ds500¹		1		WA	118
rs149789782^1,2		--	197236493(+)	`CAGAAA/CAACCT`	3	--	ds500¹		0	--	--	--	--
rs147906672^1,2		--	197236508(+)	`AGGCCG/TGCCCA`	3	--	ds500¹		0	--	--	--	--
rs188915258^1,2		--	197236585(+)	`TGATGA/GGGACC`	3	--	ds500¹		0	--	--	--	--
rs181683385^1,2		--	197236605(+)	`TGGCCC/TTCCTT`	3	--	ds500¹		0	--	--	--	--
rs115637343^1,2	C,F	--	197236689(+)	`ACGGAC/AACAAA`	3	--	ut3¹		1		WA	118
rs114134616^1,2	F	--	197236727(+)	`CGAAAG/CGATCC`	3	--	ut3¹		1		WA	118

HapMap Linkage Disequilibrium report for BDH1 (197236654 - 197300194 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 12 variations for BDH1
     7 CNVs: 29733 2492 29732 68566 3473 31144 53339
     3 Indels: 27282 27281 27280
     2 Inversions: 37243 0568

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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BDH1 for disorders           About GeneDecksing

OMIM gene information: 603063    OMIM disorders: --

13 diseases for BDH1:    About MalaCards

malignant conjunctiva melanoma bile duct adenoma chromophobe adenocarcinoma adenoma

hepatocellular carcinoma adenocarcinoma retinitis tuberculosis

carcinoma pancreatitis neuronitis mycobacterium tuberculosis

alcoholism

1 disease from the University of Copenhagen DISEASES database for BDH1:

Chromophobe adenocarcinoma

Human Genome Epidemiology (HuGE) Navigator: BDH1 (3 documents)

Export disorders for BDH1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for BDH1 gene, integrated from 9 sources (see all 40):
(articles sorted by number of sources associating them with BDH1)

Utopia: connect your pdf to the dynamic
world of online information

Molecular cloning and characterization of (R)-3-hydroxybutyrate dehydrogenase from human heart. (PubMed id 1639787)^{1, 2, 3} Marks A.R.... Fleischer S. (1992)
The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative. (PubMed id 19027726)^{1, 3} Persson B.... Oppermann U. (2009)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Wild type and mutant human heart (R)-3-hydroxybutyrate dehydrogenase expressed in insect cells. (PubMed id 8679568)^{1, 9} Green D....McIntyre J.O. (1996)
Phosphatidylcholine activation of human heart (R)-3-hydroxybutyrate dehydrogenase mutants lacking active center sulfhydryls: site-directed mutagenesis of a new recombinant fusion protein. (PubMed id 10933785)^{1, 9} Chelius D....Trommer W.E. (2000)
A chemiluminescence-flow injection analysis of serum 3-hydroxybutyrate using a bioreactor consisting of 3-hydroxybutyrate dehydrogenase and NADH oxidase. (PubMed id 8533882)^{7, 9} Tabata M. and Totani M. (1995)
(R)-3-hydroxybutyrate dehydrogenase: selective phosphatidylcholine binding by the C-terminal domain. (PubMed id 11009606)^{1, 9} Loeb-Hennard C. and McIntyre J.O. (2000)
Interactions of pathological hallmark proteins: tubul in polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)¹ OlA!h J....OvA!di J. (2011)
Differential utilization of ketone bodies by neurons and glioma cell lines: a rationale for ketogenic diet as experimental glioma th erapy. (PubMed id 21791085)¹ Maurer G.D....Rieger J. (2011)
Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)¹ Hendrickson S.L....O'Brien S.J. (2010)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 622	HGNC: 1027	AceView: BDH	Ensembl:ENSG00000161267	euGenes: HUgn622
ECgene: BDH1	Kegg: 622	H-InvDB: BDH1

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for BDH1	Pharmacogenomics, SNPs, Pathways

Intellectual Property for BDH1 gene
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Patent Information for BDH1 gene:
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GeneCards and IP:
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3-hydroxybutyrate dehydrogenase, type 1

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BDH1 Gene

3-hydroxybutyrate dehydrogenase, type 1

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