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Protein

D-beta-hydroxybutyrate dehydrogenase, mitochondrial

Gene

BDH1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Catalytic activityi

(R)-3-hydroxybutanoate + NAD+ = acetoacetate + NADH.

Enzyme regulationi

Requires phosphatidylcholine as an allosteric activator for enzymatic activity.

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Binding sitei195 – 1951SubstrateBy similarity
Active sitei208 – 2081Proton acceptorPROSITE-ProRule annotation

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi59 – 8325NADBy similarityAdd
BLAST

GO - Molecular functioni

  • 3-hydroxybutyrate dehydrogenase activity Source: UniProtKB
  • phospholipid binding Source: Ensembl

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Oxidoreductase

Keywords - Ligandi

NAD

Enzyme and pathway databases

BioCyciMetaCyc:HS08579-MONOMER.
ReactomeiREACT_1464. Synthesis of Ketone Bodies.
REACT_59. Utilization of Ketone Bodies.

Names & Taxonomyi

Protein namesi
Recommended name:
D-beta-hydroxybutyrate dehydrogenase, mitochondrial (EC:1.1.1.30)
Short name:
BDH
Alternative name(s):
3-hydroxybutyrate dehydrogenase
Short chain dehydrogenase/reductase family 9C member 1
Gene namesi
Name:BDH1
Synonyms:BDH, SDR9C1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640 Componentsi: Chromosome 3, Unplaced

Organism-specific databases

HGNCiHGNC:1027. BDH1.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Mitochondrion

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA25331.

Polymorphism and mutation databases

BioMutaiBDH1.
DMDMi25108876.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transit peptidei1 – 4646MitochondrionBy similarityAdd
BLAST
Chaini47 – 343297D-beta-hydroxybutyrate dehydrogenase, mitochondrialPRO_0000031960Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei73 – 731N6-acetyllysineBy similarity
Modified residuei97 – 971N6-acetyllysineBy similarity
Modified residuei132 – 1321N6-acetyllysineBy similarity
Modified residuei177 – 1771N6-acetyllysineBy similarity
Modified residuei212 – 2121N6-acetyllysineBy similarity
Glycosylationi219 – 2191O-linked (GlcNAc)By similarity
Modified residuei258 – 2581N6-acetyllysineBy similarity
Modified residuei259 – 2591N6-acetyllysine; alternateBy similarity
Modified residuei259 – 2591N6-succinyllysine; alternateBy similarity
Modified residuei280 – 2801N6-acetyllysineBy similarity

Keywords - PTMi

Acetylation, Glycoprotein

Proteomic databases

MaxQBiQ02338.
PaxDbiQ02338.
PeptideAtlasiQ02338.
PRIDEiQ02338.

PTM databases

PhosphoSiteiQ02338.

Expressioni

Gene expression databases

BgeeiQ02338.
CleanExiHS_BDH1.
ExpressionAtlasiQ02338. baseline and differential.
GenevisibleiQ02338. HS.

Organism-specific databases

HPAiHPA030947.
HPA058709.

Interactioni

Subunit structurei

Homotetramer.

Protein-protein interaction databases

BioGridi107091. 8 interactions.
IntActiQ02338. 2 interactions.
STRINGi9606.ENSP00000350914.

Structurei

3D structure databases

ProteinModelPortaliQ02338.
SMRiQ02338. Positions 58-328.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiCOG1028.
GeneTreeiENSGT00770000120485.
HOVERGENiHBG005482.
InParanoidiQ02338.
KOiK00019.
OMAiKDKGHDG.
OrthoDBiEOG7FXZZX.
PhylomeDBiQ02338.
TreeFamiTF325617.

Family and domain databases

Gene3Di3.40.50.720. 1 hit.
InterProiIPR002198. DH_sc/Rdtase_SDR.
IPR002347. Glc/ribitol_DH.
IPR016040. NAD(P)-bd_dom.
IPR020904. Sc_DH/Rdtase_CS.
[Graphical view]
PfamiPF00106. adh_short. 1 hit.
[Graphical view]
PRINTSiPR00081. GDHRDH.
PR00080. SDRFAMILY.
PROSITEiPS00061. ADH_SHORT. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

Q02338-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MLATRLSRPL SRLPGKTLSA CDRENGARRP LLLGSTSFIP IGRRTYASAA
60 70 80 90 100
EPVGSKAVLV TGCDSGFGFS LAKHLHSKGF LVFAGCLMKD KGHDGVKELD
110 120 130 140 150
SLNSDRLRTV QLNVCSSEEV EKVVEIVRSS LKDPEKGMWG LVNNAGISTF
160 170 180 190 200
GEVEFTSLET YKQVAEVNLW GTVRMTKSFL PLIRRAKGRV VNISSMLGRM
210 220 230 240 250
ANPARSPYCI TKFGVEAFSD CLRYEMYPLG VKVSVVEPGN FIAATSLYSP
260 270 280 290 300
ESIQAIAKKM WEELPEVVRK DYGKKYFDEK IAKMETYCSS GSTDTSPVID
310 320 330 340
AVTHALTATT PYTRYHPMDY YWWLRMQIMT HLPGAISDMI YIR
Length:343
Mass (Da):38,157
Last modified:November 15, 2002 - v3
Checksum:iB8AA1148111ACA8F
GO

Sequence cautioni

The sequence AAA58352.1 differs from that shown. Reason: Frameshift at positions 124 and 134. Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti70 – 701S → A in AAH11964 (PubMed:15489334).Curated
Sequence conflicti115 – 1162CS → FR in AAA58352 (PubMed:1639787).Curated
Sequence conflicti249 – 2491S → N in AAA58352 (PubMed:1639787).Curated

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS3328.1.
PIRiA42845.
RefSeqiNP_004042.1. NM_004051.4.
NP_976059.1. NM_203314.2.
NP_976060.1. NM_203315.2.
XP_005269409.1. XM_005269352.2.
UniGeneiHs.274539.

Genome annotation databases

EnsembliENST00000358186; ENSP00000350914; ENSG00000161267.
ENST00000392378; ENSP00000376183; ENSG00000161267.
ENST00000392379; ENSP00000376184; ENSG00000161267.
ENST00000612690; ENSP00000484421; ENSG00000275544.
ENST00000617317; ENSP00000482744; ENSG00000275544.
GeneIDi622.
KEGGihsa:622.
UCSCiuc003fxr.3. human.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS3328.1.
PIRiA42845.
RefSeqiNP_004042.1. NM_004051.4.
NP_976059.1. NM_203314.2.
NP_976060.1. NM_203315.2.
XP_005269409.1. XM_005269352.2.
UniGeneiHs.274539.

3D structure databases

ProteinModelPortaliQ02338.
SMRiQ02338. Positions 58-328.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi107091. 8 interactions.
IntActiQ02338. 2 interactions.
STRINGi9606.ENSP00000350914.

PTM databases

PhosphoSiteiQ02338.

Polymorphism and mutation databases

BioMutaiBDH1.
DMDMi25108876.

Proteomic databases

MaxQBiQ02338.
PaxDbiQ02338.
PeptideAtlasiQ02338.
PRIDEiQ02338.

Protocols and materials databases

DNASUi622.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000358186; ENSP00000350914; ENSG00000161267.
ENST00000392378; ENSP00000376183; ENSG00000161267.
ENST00000392379; ENSP00000376184; ENSG00000161267.
ENST00000612690; ENSP00000484421; ENSG00000275544.
ENST00000617317; ENSP00000482744; ENSG00000275544.
GeneIDi622.
KEGGihsa:622.
UCSCiuc003fxr.3. human.

Organism-specific databases

CTDi622.
GeneCardsiGC03M197236.
HGNCiHGNC:1027. BDH1.
HPAiHPA030947.
HPA058709.
MIMi603063. gene.
neXtProtiNX_Q02338.
PharmGKBiPA25331.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiCOG1028.
GeneTreeiENSGT00770000120485.
HOVERGENiHBG005482.
InParanoidiQ02338.
KOiK00019.
OMAiKDKGHDG.
OrthoDBiEOG7FXZZX.
PhylomeDBiQ02338.
TreeFamiTF325617.

Enzyme and pathway databases

BioCyciMetaCyc:HS08579-MONOMER.
ReactomeiREACT_1464. Synthesis of Ketone Bodies.
REACT_59. Utilization of Ketone Bodies.

Miscellaneous databases

ChiTaRSiBDH1. human.
GeneWikiiBDH1.
GenomeRNAii622.
NextBioi2510.
PROiQ02338.
SOURCEiSearch...

Gene expression databases

BgeeiQ02338.
CleanExiHS_BDH1.
ExpressionAtlasiQ02338. baseline and differential.
GenevisibleiQ02338. HS.

Family and domain databases

Gene3Di3.40.50.720. 1 hit.
InterProiIPR002198. DH_sc/Rdtase_SDR.
IPR002347. Glc/ribitol_DH.
IPR016040. NAD(P)-bd_dom.
IPR020904. Sc_DH/Rdtase_CS.
[Graphical view]
PfamiPF00106. adh_short. 1 hit.
[Graphical view]
PRINTSiPR00081. GDHRDH.
PR00080. SDRFAMILY.
PROSITEiPS00061. ADH_SHORT. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  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. 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.
  4. "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."
    Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D., Wang L., Ye M., Zou H.
    J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Liver.

Entry informationi

Entry nameiBDH_HUMAN
AccessioniPrimary (citable) accession number: Q02338
Secondary accession number(s): D3DXC0, Q96ET1, Q9BRZ4
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 1, 1993
Last sequence update: November 15, 2002
Last modified: June 24, 2015
This is version 147 of the entry and version 3 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

Allosteric enzyme, Complete proteome, Reference proteome

Documents

  1. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.