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Protein

3-hydroxybutyrate dehydrogenase type 2

Gene

BDH2

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

Functioni

Dehydrogenase that mediates the formation of 2,5-dihydroxybenzoic acid (2,5-DHBA), a siderophore that shares structural similarities with bacterial enterobactin and associates with LCN2, thereby playing a key role in iron homeostasis and transport. Also acts as a 3-hydroxybutyrate dehydrogenase (By similarity).By similarity1 Publication

Catalytic activityi

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

Kineticsi

  1. KM=60 µM for NAD1 Publication
  2. KM=10 mM for R-hydroxybutyrate1 Publication
  1. Vmax=82 nmol/min/mg enzyme (at 30 degrees Celsius)1 Publication

pH dependencei

Optimum pH is 7.5-9.0.1 Publication

Pathwayi: Siderophore biosynthesis

This protein is involved in Siderophore biosynthesis.
View all proteins of this organism that are known to be involved in Siderophore biosynthesis.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Binding sitei58NAD1 Publication1
Binding sitei144SubstrateCurated1
Active sitei147Proton acceptorPROSITE-ProRule annotation1
Binding sitei151NAD1 Publication1
Binding sitei188SubstrateCurated1
Binding sitei205SubstrateCurated1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi10 – 37NAD1 PublicationAdd BLAST28
Nucleotide bindingi180 – 184NAD1 Publication5

GO - Molecular functioni

  • 3-hydroxybutyrate dehydrogenase activity Source: HGNC
  • NAD binding Source: HGNC
  • oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor Source: UniProtKB

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Oxidoreductase

Keywords - Ligandi

NAD

Enzyme and pathway databases

BioCyciMetaCyc:HS08987-MONOMER.
ZFISH:HS08987-MONOMER.
ReactomeiR-HSA-77111. Synthesis of Ketone Bodies.
SABIO-RKQ9BUT1.

Names & Taxonomyi

Protein namesi
Recommended name:
3-hydroxybutyrate dehydrogenase type 2 (EC:1.1.1.-, EC:1.1.1.30)
Alternative name(s):
Dehydrogenase/reductase SDR family member 6
Oxidoreductase UCPA
R-beta-hydroxybutyrate dehydrogenase
Short chain dehydrogenase/reductase family 15C member 1
Gene namesi
Name:BDH2
Synonyms:DHRS6, SDR15C1
ORF Names:UNQ6308/PRO20933
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 4

Organism-specific databases

HGNCiHGNC:32389. BDH2.

Subcellular locationi

  • Cytoplasm 1 Publication

GO - Cellular componenti

  • cytoplasm Source: HGNC
  • cytosol Source: Reactome
  • extracellular exosome Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Organism-specific databases

DisGeNETi56898.
OpenTargetsiENSG00000164039.
PharmGKBiPA142672559.

Polymorphism and mutation databases

BioMutaiBDH2.
DMDMi125987797.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000425801 – 2453-hydroxybutyrate dehydrogenase type 2Add BLAST245

Proteomic databases

EPDiQ9BUT1.
MaxQBiQ9BUT1.
PaxDbiQ9BUT1.
PeptideAtlasiQ9BUT1.
PRIDEiQ9BUT1.

PTM databases

iPTMnetiQ9BUT1.
PhosphoSitePlusiQ9BUT1.

Expressioni

Gene expression databases

BgeeiENSG00000164039.
CleanExiHS_BDH2.
ExpressionAtlasiQ9BUT1. baseline and differential.
GenevisibleiQ9BUT1. HS.

Organism-specific databases

HPAiHPA036028.
HPA036029.

Interactioni

Subunit structurei

Homotetramer.1 Publication

Protein-protein interaction databases

BioGridi121228. 10 interactors.
IntActiQ9BUT1. 1 interactor.
STRINGi9606.ENSP00000296424.

Structurei

Secondary structure

1245
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Turni3 – 6Combined sources4
Beta strandi8 – 13Combined sources6
Helixi17 – 28Combined sources12
Beta strandi32 – 38Combined sources7
Helixi40 – 43Combined sources4
Helixi44 – 48Combined sources5
Beta strandi52 – 56Combined sources5
Helixi62 – 71Combined sources10
Beta strandi76 – 80Combined sources5
Helixi90 – 92Combined sources3
Helixi95 – 105Combined sources11
Helixi107 – 123Combined sources17
Beta strandi126 – 131Combined sources6
Turni136 – 138Combined sources3
Helixi145 – 165Combined sources21
Helixi166 – 168Combined sources3
Beta strandi170 – 178Combined sources9
Helixi183 – 191Combined sources9
Beta strandi192 – 194Combined sources3
Helixi195 – 204Combined sources10
Helixi214 – 225Combined sources12
Helixi227 – 229Combined sources3
Beta strandi236 – 239Combined sources4
Helixi243 – 245Combined sources3

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2AG5X-ray1.84A/B/C/D1-245[»]
ProteinModelPortaliQ9BUT1.
SMRiQ9BUT1.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ9BUT1.

Family & Domainsi

Sequence similaritiesi

Phylogenomic databases

eggNOGiKOG0725. Eukaryota.
COG1028. LUCA.
GeneTreeiENSGT00760000118868.
HOVERGENiHBG002145.
InParanoidiQ9BUT1.
KOiK00019.
OMAiTHETPRI.
OrthoDBiEOG091G0GO6.
PhylomeDBiQ9BUT1.
TreeFamiTF328795.

Family and domain databases

Gene3Di3.40.50.720. 1 hit.
InterProiIPR016040. NAD(P)-bd_dom.
IPR020904. Sc_DH/Rdtase_CS.
IPR002347. SDR_fam.
[Graphical view]
PRINTSiPR00081. GDHRDH.
PR00080. SDRFAMILY.
SUPFAMiSSF51735. SSF51735. 1 hit.
PROSITEiPS00061. ADH_SHORT. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9BUT1-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MGRLDGKVII LTAAAQGIGQ AAALAFAREG AKVIATDINE SKLQELEKYP
60 70 80 90 100
GIQTRVLDVT KKKQIDQFAN EVERLDVLFN VAGFVHHGTV LDCEEKDWDF
110 120 130 140 150
SMNLNVRSMY LMIKAFLPKM LAQKSGNIIN MSSVASSVKG VVNRCVYSTT
160 170 180 190 200
KAAVIGLTKS VAADFIQQGI RCNCVCPGTV DTPSLQERIQ ARGNPEEARN
210 220 230 240
DFLKRQKTGR FATAEEIAML CVYLASDESA YVTGNPVIID GGWSL
Length:245
Mass (Da):26,724
Last modified:February 6, 2007 - v2
Checksum:iA6E10E9DF9304107
GO
Isoform 2 (identifier: Q9BUT1-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     141-245: VVNRCVYSTT...PVIIDGGWSL → GSVSFRGLRCSYTHIIKSSAFGNRHSRDYNFKY

Show »
Length:173
Mass (Da):19,209
Checksum:i23BD76240A349C5F
GO
Isoform 3 (identifier: Q9BUT1-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-101: Missing.

Show »
Length:144
Mass (Da):15,626
Checksum:i84FAF6A1B536C6B8
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti95E → V in BAF82849 (PubMed:14702039).Curated1
Sequence conflicti161V → L in AAQ89200 (PubMed:12975309).Curated1
Sequence conflicti203L → P in BAF82849 (PubMed:14702039).Curated1
Sequence conflicti230A → T in AAH95414 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02360270N → S.4 PublicationsCorresponds to variant rs1054707dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0397811 – 101Missing in isoform 3. 1 PublicationAdd BLAST101
Alternative sequenceiVSP_015859141 – 245VVNRC…GGWSL → GSVSFRGLRCSYTHIIKSSA FGNRHSRDYNFKY in isoform 2. 3 PublicationsAdd BLAST105

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF164790 mRNA. Translation: AAF80754.1.
AY358841 mRNA. Translation: AAQ89200.1.
CR457309 mRNA. Translation: CAG33590.1.
AK023323 mRNA. Translation: BAB14526.1.
AK290160 mRNA. Translation: BAF82849.1.
AK300626 mRNA. Translation: BAG62318.1.
AC097485 Genomic DNA. No translation available.
BC037277 mRNA. Translation: AAH37277.1.
BC001953 mRNA. Translation: AAH01953.1.
BC095414 mRNA. Translation: AAH95414.1.
CCDSiCCDS3663.1. [Q9BUT1-1]
RefSeqiNP_064524.3. NM_020139.3. [Q9BUT1-1]
XP_011530430.1. XM_011532128.2. [Q9BUT1-1]
XP_016863951.1. XM_017008462.1. [Q9BUT1-1]
UniGeneiHs.124696.

Genome annotation databases

EnsembliENST00000296424; ENSP00000296424; ENSG00000164039. [Q9BUT1-1]
GeneIDi56898.
KEGGihsa:56898.
UCSCiuc003hwz.4. human. [Q9BUT1-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF164790 mRNA. Translation: AAF80754.1.
AY358841 mRNA. Translation: AAQ89200.1.
CR457309 mRNA. Translation: CAG33590.1.
AK023323 mRNA. Translation: BAB14526.1.
AK290160 mRNA. Translation: BAF82849.1.
AK300626 mRNA. Translation: BAG62318.1.
AC097485 Genomic DNA. No translation available.
BC037277 mRNA. Translation: AAH37277.1.
BC001953 mRNA. Translation: AAH01953.1.
BC095414 mRNA. Translation: AAH95414.1.
CCDSiCCDS3663.1. [Q9BUT1-1]
RefSeqiNP_064524.3. NM_020139.3. [Q9BUT1-1]
XP_011530430.1. XM_011532128.2. [Q9BUT1-1]
XP_016863951.1. XM_017008462.1. [Q9BUT1-1]
UniGeneiHs.124696.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2AG5X-ray1.84A/B/C/D1-245[»]
ProteinModelPortaliQ9BUT1.
SMRiQ9BUT1.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi121228. 10 interactors.
IntActiQ9BUT1. 1 interactor.
STRINGi9606.ENSP00000296424.

PTM databases

iPTMnetiQ9BUT1.
PhosphoSitePlusiQ9BUT1.

Polymorphism and mutation databases

BioMutaiBDH2.
DMDMi125987797.

Proteomic databases

EPDiQ9BUT1.
MaxQBiQ9BUT1.
PaxDbiQ9BUT1.
PeptideAtlasiQ9BUT1.
PRIDEiQ9BUT1.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000296424; ENSP00000296424; ENSG00000164039. [Q9BUT1-1]
GeneIDi56898.
KEGGihsa:56898.
UCSCiuc003hwz.4. human. [Q9BUT1-1]

Organism-specific databases

CTDi56898.
DisGeNETi56898.
GeneCardsiBDH2.
H-InvDBHIX0032960.
HGNCiHGNC:32389. BDH2.
HPAiHPA036028.
HPA036029.
neXtProtiNX_Q9BUT1.
OpenTargetsiENSG00000164039.
PharmGKBiPA142672559.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0725. Eukaryota.
COG1028. LUCA.
GeneTreeiENSGT00760000118868.
HOVERGENiHBG002145.
InParanoidiQ9BUT1.
KOiK00019.
OMAiTHETPRI.
OrthoDBiEOG091G0GO6.
PhylomeDBiQ9BUT1.
TreeFamiTF328795.

Enzyme and pathway databases

BioCyciMetaCyc:HS08987-MONOMER.
ZFISH:HS08987-MONOMER.
ReactomeiR-HSA-77111. Synthesis of Ketone Bodies.
SABIO-RKQ9BUT1.

Miscellaneous databases

EvolutionaryTraceiQ9BUT1.
GenomeRNAii56898.
PROiQ9BUT1.

Gene expression databases

BgeeiENSG00000164039.
CleanExiHS_BDH2.
ExpressionAtlasiQ9BUT1. baseline and differential.
GenevisibleiQ9BUT1. HS.

Family and domain databases

Gene3Di3.40.50.720. 1 hit.
InterProiIPR016040. NAD(P)-bd_dom.
IPR020904. Sc_DH/Rdtase_CS.
IPR002347. SDR_fam.
[Graphical view]
PRINTSiPR00081. GDHRDH.
PR00080. SDRFAMILY.
SUPFAMiSSF51735. SSF51735. 1 hit.
PROSITEiPS00061. ADH_SHORT. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiBDH2_HUMAN
AccessioniPrimary (citable) accession number: Q9BUT1
Secondary accession number(s): A8K295
, B4DUF6, Q503A0, Q6IA46, Q6UWD3, Q9H8S8, Q9NRX8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 11, 2005
Last sequence update: February 6, 2007
Last modified: November 30, 2016
This is version 141 of the entry and version 2 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 4
    Human chromosome 4: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

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 one 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.