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Q02338 (BDH_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 135. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (3) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

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) [Reference 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
Reference proteome
Gene Ontology (GO)
   Biological_processadipose tissue development

Inferred from electronic annotation. Source: Ensembl

brain development

Inferred from electronic annotation. Source: Ensembl

cellular ketone body metabolic process

Traceable author statement. Source: Reactome

cellular lipid metabolic process

Traceable author statement. Source: Reactome

ketone body biosynthetic process

Traceable author statement. Source: Reactome

ketone body catabolic process

Traceable author statement. Source: Reactome

liver development

Inferred from electronic annotation. Source: Ensembl

response to cadmium ion

Inferred from electronic annotation. Source: Ensembl

response to corticosterone

Inferred from electronic annotation. Source: Ensembl

response to drug

Inferred from electronic annotation. Source: Ensembl

response to estradiol

Inferred from electronic annotation. Source: Ensembl

response to ethanol

Inferred from electronic annotation. Source: Ensembl

response to growth hormone

Inferred from electronic annotation. Source: Ensembl

response to insulin

Inferred from electronic annotation. Source: Ensembl

response to nutrient

Inferred from electronic annotation. Source: Ensembl

response to starvation

Inferred from electronic annotation. Source: Ensembl

response to toxic substance

Inferred from electronic annotation. Source: Ensembl

small molecule metabolic process

Traceable author statement. Source: Reactome

   Cellular_componentmitochondrial inner membrane

Inferred from electronic annotation. Source: Ensembl

mitochondrial matrix

Traceable author statement. Source: Reactome

mitochondrion

Inferred from direct assay. Source: HPA

nucleus

Inferred from direct assay. Source: HPA

   Molecular_function3-hydroxybutyrate dehydrogenase activity

Inferred from direct assay PubMed 8679568. Source: UniProtKB

phospholipid binding

Inferred from electronic annotation. Source: Ensembl

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 residue731N6-acetyllysine By similarity
Modified residue971N6-acetyllysine By similarity
Modified residue1321N6-acetyllysine By similarity
Modified residue1771N6-acetyllysine By similarity
Modified residue2121N6-acetyllysine By similarity
Modified residue2581N6-acetyllysine By similarity
Modified residue2591N6-acetyllysine; alternate By similarity
Modified residue2591N6-succinyllysine; alternate By similarity
Modified residue2801N6-acetyllysine By similarity

Experimental info

Sequence conflict701S → A in AAH11964. Ref.3
Sequence conflict115 – 1162CS → FR in AAA58352. Ref.1
Sequence conflict2491S → N in AAA58352. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Q02338 [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] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA].
Tissue: Heart.
[2]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]"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] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Lung and Ovary.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
M93107 mRNA. Translation: AAA58352.1. Frameshift.
CH471191 Genomic DNA. Translation: EAW53606.1.
CH471191 Genomic DNA. Translation: EAW53607.1.
CH471191 Genomic DNA. Translation: EAW53608.1.
CH471191 Genomic DNA. Translation: EAW53609.1.
BC005844 mRNA. Translation: AAH05844.1.
BC011964 mRNA. Translation: AAH11964.1.
BC019317 mRNA. Translation: AAH19317.1.
PIRA42845.
RefSeqNP_004042.1. NM_004051.4.
NP_976059.1. NM_203314.2.
NP_976060.1. NM_203315.2.
XP_005269409.1. XM_005269352.1.
UniGeneHs.274539.

3D structure databases

ProteinModelPortalQ02338.
SMRQ02338. Positions 58-328.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid107091. 3 interactions.
IntActQ02338. 2 interactions.
STRING9606.ENSP00000350914.

Chemistry

DrugBankDB00157. NADH.

PTM databases

PhosphoSiteQ02338.

Polymorphism databases

DMDM25108876.

Proteomic databases

PaxDbQ02338.
PeptideAtlasQ02338.
PRIDEQ02338.

Protocols and materials databases

DNASU622.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000358186; ENSP00000350914; ENSG00000161267.
ENST00000392378; ENSP00000376183; ENSG00000161267.
ENST00000392379; ENSP00000376184; ENSG00000161267.
GeneID622.
KEGGhsa:622.
UCSCuc003fxr.3. human.

Organism-specific databases

CTD622.
GeneCardsGC03M197236.
HGNCHGNC:1027. BDH1.
HPAHPA030947.
MIM603063. gene.
neXtProtNX_Q02338.
PharmGKBPA25331.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG1028.
HOVERGENHBG005482.
InParanoidQ02338.
KOK00019.
OMACDRENGA.
OrthoDBEOG7FXZZX.
PhylomeDBQ02338.
TreeFamTF325617.

Enzyme and pathway databases

BioCycMetaCyc:HS08579-MONOMER.
ReactomeREACT_111217. Metabolism.

Gene expression databases

ArrayExpressQ02338.
BgeeQ02338.
CleanExHS_BDH1.
GenevestigatorQ02338.

Family and domain databases

Gene3D3.40.50.720. 1 hit.
InterProIPR002198. DH_sc/Rdtase_SDR.
IPR002347. Glc/ribitol_DH.
IPR016040. NAD(P)-bd_dom.
IPR020904. Sc_DH/Rdtase_CS.
[Graphical view]
PfamPF00106. adh_short. 1 hit.
[Graphical view]
PRINTSPR00081. GDHRDH.
PR00080. SDRFAMILY.
PROSITEPS00061. ADH_SHORT. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSBDH1. human.
GeneWikiBDH1.
GenomeRNAi622.
NextBio2510.
PROQ02338.
SOURCESearch...

Entry information

Entry nameBDH_HUMAN
AccessionPrimary (citable) accession number: Q02338
Secondary accession number(s): D3DXC0, Q96ET1, Q9BRZ4
Entry history
Integrated into UniProtKB/Swiss-Prot: July 1, 1993
Last sequence update: November 15, 2002
Last modified: April 16, 2014
This is version 135 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
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

SIMILARITY comments

Index of protein domains and families

MIM cross-references

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

Human chromosome 3

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