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Reviewed, UniProtKB/Swiss-Prot Q02338 (BDH_HUMAN)

Last modified January 19, 2010. Version 95. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (3) | Third-party data | Customize display text xml rdf/xml gff fasta
Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Sequence annotation (Features) · Sequences · References · Cross-references · Entry information · Relevant documents

Names and origin

Protein namesRecommended 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
OrganismHomo sapiens (Human) [Complete proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length343 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence 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 componentMitochondrion
   DomainTransit peptide
   LigandNAD
   Molecular functionOxidoreductase
   PTMAcetylation
   Technical termAllosteric enzyme
Complete proteome
Gene Ontology (GO)
   Biological processoxidation reduction

Inferred from electronic annotation. Source: UniProtKB-KW

   Cellular componentmitochondrial matrix Ref.1

Non-traceable author statement. Source: UniProtKB

   Molecular function3-hydroxybutyrate dehydrogenase activity Ref.1

Traceable author statement. Source: UniProtKB

binding

Inferred from electronic annotation. Source: InterPro

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Transit peptide1 – 4646Mitochondrion By similarity
Chain47 – 343297D-beta-hydroxybutyrate dehydrogenase, mitochondrial
PRO_0000031960

Regions

Nucleotide binding59 – 8325NAD By similarity

Sites

Active site2081Proton acceptor By similarity
Binding site1951Substrate By similarity

Amino acid modifications

Modified residue1321N6-acetyllysine By similarity
Modified residue2751N6-acetyllysine By similarity

Experimental info

Sequence conflict701S → A in AAH11964. Ref.2
Sequence conflict115 – 1162CS → FR in AAA58352. Ref.1
Sequence conflict2491S → N in AAA58352. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Q02338-1 [UniParc].

Last modified November 15, 2002. Version 3.
Checksum: B8AA1148111ACA8F

FASTA34338,157
        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 

« Hide

References

« Hide '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.
IPIIPI00025341.
PIRA42845.
RefSeqNP_004042.1.
NP_976059.1.
NP_976060.1.
UniGeneHs.274539

3D structure databases

SMRQ02338. Positions 55-330.
ModBaseSearch...

Protein-protein interaction databases

STRINGQ02338.

PTM databases

PhosphoSiteQ02338.

Proteomic databases

PeptideAtlasQ02338.
PRIDEQ02338.

Genome annotation databases

EnsemblENST00000358186; ENSP00000350914; ENSG00000161267; Homo sapiens. [Genome view]
ENST00000392378; ENSP00000376183; ENSG00000161267; Homo sapiens. [Genome view]
ENST00000392379; ENSP00000376184; ENSG00000161267; Homo sapiens. [Genome view]
GeneID622.
KEGGhsa:622.
UCSCuc003fxr.1. human.

Organism-specific databases

CTD622.
GeneCardsGC03M198727.
HGNCHGNC:1027. BDH1.
MIM603063. gene.
PharmGKBPA25331.
GenAtlasSearch...

Phylogenomic databases

HOGENOMHBG750976.
HOVERGENQ02338.
InParanoidQ02338.
OMATHFPGAI.
OrthoDBEOG9BVVF0.
PhylomeDBQ02338.

Enzyme and pathway databases

BRENDA1.1.1.30. 247.
Pathway_Interaction_DBhnf3bpathway. FOXA2 and FOXA3 transcription factor networks.
ReactomeREACT_602. Metabolism of lipids and lipoproteins.

Gene expression databases

ArrayExpressQ02338.
BgeeQ02338.
CleanExHS_BDH1.
GenevestigatorQ02338.
GermOnlineENSG00000161267. Homo sapiens.

Family and domain databases

InterProIPR002198. DH_sc/Rdtase_SDR.
IPR002347. Glc/ribitol_DH.
IPR016040. NAD(P)-bd_dom.
IPR020904. Sc_DH/Rdtase_CS.
[Graphical view]
Gene3DG3DSA:3.40.50.720. NAD(P)-bd. 1 hit.
PANTHERPTHR19410. ADH_short_C2. 1 hit.
PfamPF00106. adh_short. 1 hit.
[Graphical view]
PRINTSPR00081. GDHRDH.
PR00080. SDRFAMILY.
PROSITEPS00061. ADH_SHORT. 1 hit.
[Graphical view]
ProtoNetSearch...

Other Resources

DrugBankDB00157. NADH.
NextBio2510.
SOURCESearch...

Entry information

Entry nameBDH_HUMAN
AccessionPrimary (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 statusReviewed (UniProtKB/Swiss-Prot)
Annotation projectHPI (Human Proteome Initiative)
DisclaimerAny 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.

Relevant documents

Human chromosome 3

Human chromosome 3: entries, gene names and cross-references to MIM

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

SIMILARITY comments

Index of protein domains and families

Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Sequence annotation (Features) · Sequences · References · Cross-references · Entry information · Relevant documents