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Protein

D-beta-hydroxybutyrate dehydrogenase, mitochondrial

Gene

BDH1

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

Functioni

Catalytic activityi

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

Activity regulationi

Requires phosphatidylcholine as an allosteric activator for enzymatic activity.By similarity

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Binding sitei195SubstrateBy similarity1
Active sitei208Proton acceptorPROSITE-ProRule annotation1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi59 – 83NADBy similarityAdd BLAST25

GO - Molecular functioni

  • 3-hydroxybutyrate dehydrogenase activity Source: UniProtKB

GO - Biological processi

Keywordsi

Molecular functionAllosteric enzyme, Oxidoreductase
LigandNAD

Enzyme and pathway databases

BioCyciMetaCyc:HS08579-MONOMER
ReactomeiR-HSA-77108 Utilization of Ketone Bodies
R-HSA-77111 Synthesis of Ketone Bodies

Names & Taxonomyi

Protein namesi
Recommended name:
D-beta-hydroxybutyrate dehydrogenase, mitochondrialCurated (EC:1.1.1.30By similarity)
Alternative name(s):
3-hydroxybutyrate dehydrogenase1 Publication
Short name:
BDH1 Publication
Short chain dehydrogenase/reductase family 9C member 1
Gene namesi
Name:BDH1Imported
Synonyms:BDH1 Publication, SDR9C1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

EuPathDBiHostDB:ENSG00000161267.11
HGNCiHGNC:1027 BDH1
MIMi603063 gene
neXtProtiNX_Q02338

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Membrane, Mitochondrion, Mitochondrion inner membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi622
OpenTargetsiENSG00000161267
PharmGKBiPA25331

Chemistry databases

DrugBankiDB00157 NADH

Polymorphism and mutation databases

BioMutaiBDH1
DMDMi25108876

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transit peptidei1 – 46MitochondrionCombined sourcesAdd BLAST46
ChainiPRO_000003196047 – 343D-beta-hydroxybutyrate dehydrogenase, mitochondrialAdd BLAST297

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei73N6-acetyllysineBy similarity1
Modified residuei97N6-acetyllysineBy similarity1
Modified residuei132N6-acetyllysineBy similarity1
Modified residuei177N6-acetyllysineBy similarity1
Modified residuei212N6-acetyllysineBy similarity1
Glycosylationi219O-linked (GlcNAc) serineBy similarity1
Modified residuei246PhosphoserineBy similarity1
Modified residuei258N6-acetyllysineBy similarity1
Modified residuei259N6-acetyllysine; alternateBy similarity1
Modified residuei259N6-succinyllysine; alternateBy similarity1
Modified residuei280N6-acetyllysineBy similarity1

Keywords - PTMi

Acetylation, Glycoprotein, Phosphoprotein

Proteomic databases

EPDiQ02338
MaxQBiQ02338
PaxDbiQ02338
PeptideAtlasiQ02338
PRIDEiQ02338
ProteomicsDBi58082
TopDownProteomicsiQ02338

PTM databases

iPTMnetiQ02338
PhosphoSitePlusiQ02338
SwissPalmiQ02338

Expressioni

Gene expression databases

BgeeiENSG00000161267 Expressed in 207 organ(s), highest expression level in right lobe of liver
CleanExiHS_BDH1
ExpressionAtlasiQ02338 baseline and differential
GenevisibleiQ02338 HS

Organism-specific databases

HPAiHPA030947
HPA058709

Interactioni

Subunit structurei

Homotetramer.By similarity

Protein-protein interaction databases

BioGridi107091, 28 interactors
IntActiQ02338, 3 interactors
STRINGi9606.ENSP00000350914

Structurei

3D structure databases

ProteinModelPortaliQ02338
SMRiQ02338
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiKOG1610 Eukaryota
ENOG410Y7FK LUCA
GeneTreeiENSGT00930000150852
HOVERGENiHBG005482
InParanoidiQ02338
KOiK00019
OMAiSMMGRMG
OrthoDBiEOG091G0LMI
PhylomeDBiQ02338
TreeFamiTF325617

Family and domain databases

InterProiView protein in InterPro
IPR036291 NAD(P)-bd_dom_sf
IPR020904 Sc_DH/Rdtase_CS
IPR002347 SDR_fam
PfamiView protein in Pfam
PF00106 adh_short, 1 hit
PRINTSiPR00081 GDHRDH
PR00080 SDRFAMILY
SUPFAMiSSF51735 SSF51735, 1 hit
PROSITEiView protein in PROSITE
PS00061 ADH_SHORT, 1 hit

Sequence (1+)i

Sequence statusi: Complete.

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

This entry has 1 described isoform and 8 potential isoforms that are computationally mapped.Show allAlign All

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

Computationally mapped potential isoform sequencesi

There are 8 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E9PCG9E9PCG9_HUMAN
D-beta-hydroxybutyrate dehydrogenas...
BDH1
256Annotation score:
C9JQ90C9JQ90_HUMAN
D-beta-hydroxybutyrate dehydrogenas...
BDH1
186Annotation score:
C9JM78C9JM78_HUMAN
D-beta-hydroxybutyrate dehydrogenas...
BDH1
168Annotation score:
H7C2W1H7C2W1_HUMAN
D-beta-hydroxybutyrate dehydrogenas...
BDH1
129Annotation score:
C9K0G7C9K0G7_HUMAN
D-beta-hydroxybutyrate dehydrogenas...
BDH1
166Annotation score:
C9JEB9C9JEB9_HUMAN
D-beta-hydroxybutyrate dehydrogenas...
BDH1
89Annotation score:
C9JB83C9JB83_HUMAN
D-beta-hydroxybutyrate dehydrogenas...
BDH1
50Annotation score:
A0A0G2JRX6A0A0G2JRX6_HUMAN
D-beta-hydroxybutyrate dehydrogenas...
BDH1
187Annotation score:

Sequence cautioni

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

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti70S → A in AAH11964 (PubMed:15489334).Curated1
Sequence conflicti115 – 116CS → FR in AAA58352 (PubMed:1639787).Curated2
Sequence conflicti249S → N in AAA58352 (PubMed:1639787).Curated1

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_005269352.3
XP_016862496.1, XM_017007007.1
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

Similar proteinsi

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_005269352.3
XP_016862496.1, XM_017007007.1
UniGeneiHs.274539

3D structure databases

ProteinModelPortaliQ02338
SMRiQ02338
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi107091, 28 interactors
IntActiQ02338, 3 interactors
STRINGi9606.ENSP00000350914

Chemistry databases

DrugBankiDB00157 NADH

PTM databases

iPTMnetiQ02338
PhosphoSitePlusiQ02338
SwissPalmiQ02338

Polymorphism and mutation databases

BioMutaiBDH1
DMDMi25108876

Proteomic databases

EPDiQ02338
MaxQBiQ02338
PaxDbiQ02338
PeptideAtlasiQ02338
PRIDEiQ02338
ProteomicsDBi58082
TopDownProteomicsiQ02338

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
DisGeNETi622
EuPathDBiHostDB:ENSG00000161267.11
GeneCardsiBDH1
HGNCiHGNC:1027 BDH1
HPAiHPA030947
HPA058709
MIMi603063 gene
neXtProtiNX_Q02338
OpenTargetsiENSG00000161267
PharmGKBiPA25331
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1610 Eukaryota
ENOG410Y7FK LUCA
GeneTreeiENSGT00930000150852
HOVERGENiHBG005482
InParanoidiQ02338
KOiK00019
OMAiSMMGRMG
OrthoDBiEOG091G0LMI
PhylomeDBiQ02338
TreeFamiTF325617

Enzyme and pathway databases

BioCyciMetaCyc:HS08579-MONOMER
ReactomeiR-HSA-77108 Utilization of Ketone Bodies
R-HSA-77111 Synthesis of Ketone Bodies

Miscellaneous databases

ChiTaRSiBDH1 human
GeneWikiiBDH1
GenomeRNAii622
PROiPR:Q02338
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000161267 Expressed in 207 organ(s), highest expression level in right lobe of liver
CleanExiHS_BDH1
ExpressionAtlasiQ02338 baseline and differential
GenevisibleiQ02338 HS

Family and domain databases

InterProiView protein in InterPro
IPR036291 NAD(P)-bd_dom_sf
IPR020904 Sc_DH/Rdtase_CS
IPR002347 SDR_fam
PfamiView protein in Pfam
PF00106 adh_short, 1 hit
PRINTSiPR00081 GDHRDH
PR00080 SDRFAMILY
SUPFAMiSSF51735 SSF51735, 1 hit
PROSITEiView protein in PROSITE
PS00061 ADH_SHORT, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiBDH_HUMAN
AccessioniPrimary (citable) accession number: Q02338
Secondary accession number(s): D3DXC0, Q96ET1, Q9BRZ4
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 1, 1993
Last sequence update: November 15, 2002
Last modified: November 7, 2018
This is version 178 of the entry and version 3 of the sequence. See 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

Complete proteome, Reference proteome

Documents

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