Reviewed, UniProtKB/Swiss-Prot Q02338 (BDH_HUMAN)

Names and origin

Protein names

Recommended name:
    D-beta-hydroxybutyrate dehydrogenase, mitochondrial
      Short name=BDH
    EC=1.1.1.30
Alternative name(s):
    3-hydroxybutyrate dehydrogenase

Gene names

Name:	BDH1
Synonyms:	BDH

Organism

Homo sapiens (Human) [Complete proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	343 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at protein level.

General annotation (Comments)

Catalytic activity	(R)-3-hydroxybutanoate + NAD+ = acetoacetate + NADH.
Enzyme regulation	Requires phosphatidylcholine as an allosteric activator for enzymatic activity.
Subunit structure	Homotetramer.
Subcellular location	Mitochondrion matrix.
Sequence similarities	Belongs to the short-chain dehydrogenases/reductases (SDR) family.
Sequence caution	The sequence AAA58352.1 differs from that shown. Reason: Frameshift at positions 124 and 134.

Ontologies

Keywords
Cellular component	Mitochondrion
Domain	Transit peptide
Ligand	NAD
Molecular function	Oxidoreductase
PTM	Acetylation
Technical term	Allosteric enzyme Complete proteome
Gene Ontology (GO)
Biological process	oxidation reduction Inferred from electronic annotation. Source: UniProtKB-KW
Cellular component	mitochondrial matrix Ref.1 Non-traceable author statement. Source: UniProtKB
Molecular function	3-hydroxybutyrate dehydrogenase activity Ref.1 Traceable author statement. Source: UniProtKB binding Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Transit peptide	1 – 46	46	Mitochondrion By similarity
	Chain	47 – 343	297	D-beta-hydroxybutyrate dehydrogenase, mitochondrial		PRO_0000031960
Regions
	Nucleotide binding	59 – 83	25	NAD By similarity
Sites
	Active site	208	1	Proton acceptor By similarity
	Binding site	195	1	Substrate By similarity
Amino acid modifications
	Modified residue	132	1	N6-acetyllysine By similarity
	Modified residue	275	1	N6-acetyllysine By similarity
Experimental info
	Sequence conflict	70	1	S → A in AAH11964. Ref.2
	Sequence conflict	115 – 116	2	CS → FR in AAA58352. Ref.1
	Sequence conflict	249	1	S → N in AAA58352. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Q02338-1 [UniParc]. Last modified November 15, 2002. Version 3. Checksum: B8AA1148111ACA8F	FASTA	343	38,157
	10 20 30 40 50 60 MLATRLSRPL SRLPGKTLSA CDRENGARRP LLLGSTSFIP IGRRTYASAA EPVGSKAVLV 70 80 90 100 110 120 TGCDSGFGFS LAKHLHSKGF LVFAGCLMKD KGHDGVKELD SLNSDRLRTV QLNVCSSEEV 130 140 150 160 170 180 EKVVEIVRSS LKDPEKGMWG LVNNAGISTF GEVEFTSLET YKQVAEVNLW GTVRMTKSFL 190 200 210 220 230 240 PLIRRAKGRV VNISSMLGRM ANPARSPYCI TKFGVEAFSD CLRYEMYPLG VKVSVVEPGN 250 260 270 280 290 300 FIAATSLYSP ESIQAIAKKM WEELPEVVRK DYGKKYFDEK IAKMETYCSS GSTDTSPVID 310 320 330 340 AVTHALTATT PYTRYHPMDY YWWLRMQIMT HLPGAISDMI YIR

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Molecular cloning and characterization of (R)-3-hydroxybutyrate dehydrogenase from human heart." Marks A.R., McIntyre J.O., Duncan T.M., Erdjument-Bromage H., Tempst P., Fleischer S. J. Biol. Chem. 267:15459-15463(1992) [PubMed: 1639787] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. Tissue: Heart.
[2]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Lung and Ovary.

Cross-references

Sequence databases
EMBL GenBank DDBJ	M93107 mRNA. Translation: AAA58352.1. Frameshift. BC005844 mRNA. Translation: AAH05844.1. BC011964 mRNA. Translation: AAH11964.1. BC019317 mRNA. Translation: AAH19317.1.
IPI	IPI00025341.
PIR	A42845.
RefSeq	NP_004042.1. NP_976059.1. NP_976060.1.
UniGene	Hs.274539
3D structure databases
SMR	Q02338. Positions 55-330.
ModBase	Search...
Protein-protein interaction databases
STRING	Q02338.
PTM databases
PhosphoSite	Q02338.
Proteomic databases
PeptideAtlas	Q02338.
PRIDE	Q02338.
Genome annotation databases
Ensembl	ENST00000358186; ENSP00000350914; ENSG00000161267; Homo sapiens. [Genome view] ENST00000392378; ENSP00000376183; ENSG00000161267; Homo sapiens. [Genome view] ENST00000392379; ENSP00000376184; ENSG00000161267; Homo sapiens. [Genome view]
GeneID	622.
KEGG	hsa:622.
UCSC	uc003fxr.1. human.
Organism-specific databases
CTD	622.
GeneCards	GC03M198727.
HGNC	HGNC:1027. BDH1.
MIM	603063. gene.
PharmGKB	PA25331.
GenAtlas	Search...
Phylogenomic databases
HOGENOM	HBG750976.
HOVERGEN	Q02338.
InParanoid	Q02338.
OMA	THFPGAI.
OrthoDB	EOG9BVVF0.
PhylomeDB	Q02338.
Enzyme and pathway databases
BRENDA	1.1.1.30. 247.
Pathway_Interaction_DB	hnf3bpathway. FOXA2 and FOXA3 transcription factor networks.
Reactome	REACT_602. Metabolism of lipids and lipoproteins.
Gene expression databases
ArrayExpress	Q02338.
Bgee	Q02338.
CleanEx	HS_BDH1.
Genevestigator	Q02338.
GermOnline	ENSG00000161267. Homo sapiens.
Family and domain databases
InterPro	IPR002198. DH_sc/Rdtase_SDR. IPR002347. Glc/ribitol_DH. IPR016040. NAD(P)-bd_dom. IPR020904. Sc_DH/Rdtase_CS. [Graphical view]
Gene3D	G3DSA:3.40.50.720. NAD(P)-bd. 1 hit.
PANTHER	PTHR19410. ADH_short_C2. 1 hit.
Pfam	PF00106. adh_short. 1 hit. [Graphical view]
PRINTS	PR00081. GDHRDH. PR00080. SDRFAMILY.
PROSITE	PS00061. ADH_SHORT. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
DrugBank	DB00157. NADH.
NextBio	2510.
SOURCE	Search...

Entry information

Entry name

BDH_HUMAN

Accession

Primary (citable) accession number: Q02338
Secondary accession number(s): Q96ET1, Q9BRZ4

Entry history

Integrated into UniProtKB/Swiss-Prot:	July 1, 1993
Last sequence update:	November 15, 2002
Last modified:	January 19, 2010
This is version 95 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.