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Q02338

- BDH_HUMAN

UniProt

Q02338 - BDH_HUMAN

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Protein

D-beta-hydroxybutyrate dehydrogenase, mitochondrial

Gene

BDH1

Organism
Homo sapiens (Human)
Status
Reviewed - 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

  1. 3-hydroxybutyrate dehydrogenase activity Source: UniProtKB
  2. phospholipid binding Source: Ensembl

GO - Biological processi

  1. adipose tissue development Source: Ensembl
  2. brain development Source: Ensembl
  3. cellular ketone body metabolic process Source: Reactome
  4. cellular lipid metabolic process Source: Reactome
  5. ketone body biosynthetic process Source: Reactome
  6. ketone body catabolic process Source: Reactome
  7. liver development Source: Ensembl
  8. response to cadmium ion Source: Ensembl
  9. response to corticosterone Source: Ensembl
  10. response to drug Source: Ensembl
  11. response to estradiol Source: Ensembl
  12. response to ethanol Source: Ensembl
  13. response to growth hormone Source: Ensembl
  14. response to insulin Source: Ensembl
  15. response to nutrient Source: Ensembl
  16. response to starvation Source: Ensembl
  17. response to toxic substance Source: Ensembl
  18. small molecule metabolic process Source: Reactome
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
Gene namesi
Name:BDH1
Synonyms:BDH
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 3

Organism-specific databases

HGNCiHGNC:1027. BDH1.

Subcellular locationi

GO - Cellular componenti

  1. mitochondrial inner membrane Source: Ensembl
  2. mitochondrial matrix Source: Reactome
  3. mitochondrion Source: HPA
  4. nucleus Source: HPA
Complete GO annotation...

Keywords - Cellular componenti

Mitochondrion

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA25331.

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.
GenevestigatoriQ02338.

Organism-specific databases

HPAiHPA030947.

Interactioni

Subunit structurei

Homotetramer.

Protein-protein interaction databases

BioGridi107091. 10 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.
OMAiCDRENGA.
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_005269352.1.
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.

Polymorphism databases

DMDMi25108876.

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 .
CCDSi CCDS3328.1.
PIRi A42845.
RefSeqi NP_004042.1. NM_004051.4.
NP_976059.1. NM_203314.2.
NP_976060.1. NM_203315.2.
XP_005269409.1. XM_005269352.1.
UniGenei Hs.274539.

3D structure databases

ProteinModelPortali Q02338.
SMRi Q02338. Positions 58-328.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 107091. 10 interactions.
IntActi Q02338. 2 interactions.
STRINGi 9606.ENSP00000350914.

PTM databases

PhosphoSitei Q02338.

Polymorphism databases

DMDMi 25108876.

Proteomic databases

MaxQBi Q02338.
PaxDbi Q02338.
PeptideAtlasi Q02338.
PRIDEi Q02338.

Protocols and materials databases

DNASUi 622.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000358186 ; ENSP00000350914 ; ENSG00000161267 .
ENST00000392378 ; ENSP00000376183 ; ENSG00000161267 .
ENST00000392379 ; ENSP00000376184 ; ENSG00000161267 .
ENST00000612690 ; ENSP00000484421 ; ENSG00000275544 .
ENST00000617317 ; ENSP00000482744 ; ENSG00000275544 .
GeneIDi 622.
KEGGi hsa:622.
UCSCi uc003fxr.3. human.

Organism-specific databases

CTDi 622.
GeneCardsi GC03M197236.
HGNCi HGNC:1027. BDH1.
HPAi HPA030947.
MIMi 603063. gene.
neXtProti NX_Q02338.
PharmGKBi PA25331.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG1028.
GeneTreei ENSGT00770000120485.
HOVERGENi HBG005482.
InParanoidi Q02338.
KOi K00019.
OMAi CDRENGA.
OrthoDBi EOG7FXZZX.
PhylomeDBi Q02338.
TreeFami TF325617.

Enzyme and pathway databases

BioCyci MetaCyc:HS08579-MONOMER.
Reactomei REACT_1464. Synthesis of Ketone Bodies.
REACT_59. Utilization of Ketone Bodies.

Miscellaneous databases

ChiTaRSi BDH1. human.
GeneWikii BDH1.
GenomeRNAii 622.
NextBioi 2510.
PROi Q02338.
SOURCEi Search...

Gene expression databases

Bgeei Q02338.
CleanExi HS_BDH1.
ExpressionAtlasi Q02338. baseline and differential.
Genevestigatori Q02338.

Family and domain databases

Gene3Di 3.40.50.720. 1 hit.
InterProi IPR002198. DH_sc/Rdtase_SDR.
IPR002347. Glc/ribitol_DH.
IPR016040. NAD(P)-bd_dom.
IPR020904. Sc_DH/Rdtase_CS.
[Graphical view ]
Pfami PF00106. adh_short. 1 hit.
[Graphical view ]
PRINTSi PR00081. GDHRDH.
PR00080. SDRFAMILY.
PROSITEi PS00061. ADH_SHORT. 1 hit.
[Graphical view ]
ProtoNeti Search...

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.

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: November 26, 2014
This is version 142 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