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Protein

3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 1

Gene

HSD3B1

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

Functioni

3-beta-HSD is a bifunctional enzyme, that catalyzes the oxidative conversion of Delta(5)-ene-3-beta-hydroxy steroid, and the oxidative conversion of ketosteroids. The 3-beta-HSD enzymatic system plays a crucial role in the biosynthesis of all classes of hormonal steroids. Efficiently catalyzes the transformation of pregnenolone to progesterone, 17-alpha-hydroxypregnenolone to 17-alpha-hydroxyprogesterone, DHEA to 4-androstenedione, dihydrotestosterone to 5-alpha-androstane-3 beta,17 beta-diol, dehydroepiandrosterone to androstenedione and 5-alpha-androstan-3 beta,17 beta-diol to 5-alpha-dihydrotestosterone.2 Publications

Catalytic activityi

A 3-beta-hydroxy-Delta(5)-steroid + NAD+ = a 3-oxo-Delta(5)-steroid + NADH.
A 3-oxo-Delta(5)-steroid = a 3-oxo-Delta(4)-steroid.

Pathwayi: steroid biosynthesis

This protein is involved in the pathway steroid biosynthesis, which is part of Lipid metabolism.
View all proteins of this organism that are known to be involved in the pathway steroid biosynthesis and in Lipid metabolism.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Active sitei155Proton acceptorBy similarity1
Binding sitei159NADBy similarity1

GO - Molecular functioni

  • 3-beta-hydroxy-delta5-steroid dehydrogenase activity Source: UniProtKB
  • steroid delta-isomerase activity Source: UniProtKB

GO - Biological processi

  • androgen biosynthetic process Source: UniProtKB
  • estrogen biosynthetic process Source: UniProtKB
  • glucocorticoid biosynthetic process Source: Reactome
  • mineralocorticoid biosynthetic process Source: Reactome
  • steroid biosynthetic process Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Isomerase, Oxidoreductase

Keywords - Biological processi

Steroidogenesis

Keywords - Ligandi

NAD

Enzyme and pathway databases

BioCyciMetaCyc:HS08829-MONOMER.
ZFISH:HS08829-MONOMER.
BRENDAi1.1.1.145. 2681.
5.3.3.1. 2681.
ReactomeiR-HSA-193048. Androgen biosynthesis.
R-HSA-193993. Mineralocorticoid biosynthesis.
R-HSA-194002. Glucocorticoid biosynthesis.
SABIO-RKP14060.
UniPathwayiUPA00062.

Chemistry databases

SwissLipidsiSLP:000001297.

Names & Taxonomyi

Protein namesi
Recommended name:
3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 1
Alternative name(s):
3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type I
Short name:
3-beta-HSD I
Trophoblast antigen FDO161G
Including the following 2 domains:
3-beta-hydroxy-Delta(5)-steroid dehydrogenase (EC:1.1.1.145)
Alternative name(s):
3-beta-hydroxy-5-ene steroid dehydrogenase
Progesterone reductase
Steroid Delta-isomerase (EC:5.3.3.1)
Alternative name(s):
Delta-5-3-ketosteroid isomerase
Gene namesi
Name:HSD3B1
Synonyms:3BH, HSDB3A
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

HGNCiHGNC:5217. HSD3B1.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei288 – 308HelicalSequence analysisAdd BLAST21

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane, Mitochondrion

Pathology & Biotechi

Organism-specific databases

DisGeNETi3283.
OpenTargetsiENSG00000203857.
PharmGKBiPA29486.

Chemistry databases

ChEMBLiCHEMBL1958.
DrugBankiDB01108. Trilostane.

Polymorphism and mutation databases

BioMutaiHSD3B1.
DMDMi112767.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemoved1 Publication
ChainiPRO_00000877742 – 3733 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 1Add BLAST372

Proteomic databases

PaxDbiP14060.
PeptideAtlasiP14060.
PRIDEiP14060.

PTM databases

iPTMnetiP14060.
PhosphoSitePlusiP14060.

Expressioni

Tissue specificityi

Placenta and skin. Predominantly expressed in mammary gland tissue.

Gene expression databases

BgeeiENSG00000203857.
CleanExiHS_HSD3B1.
ExpressionAtlasiP14060. baseline and differential.
GenevisibleiP14060. HS.

Organism-specific databases

HPAiHPA043261.
HPA043264.
HPA044028.

Interactioni

Protein-protein interaction databases

BioGridi109516. 1 interactor.
STRINGi9606.ENSP00000358421.

Chemistry databases

BindingDBiP14060.

Structurei

3D structure databases

ProteinModelPortaliP14060.
SMRiP14060.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the 3-beta-HSD family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG1430. Eukaryota.
COG0451. LUCA.
GeneTreeiENSGT00550000074557.
HOGENOMiHOG000167989.
HOVERGENiHBG000014.
KOiK00070.
OMAiTMAGWSC.
OrthoDBiEOG091G09QZ.
PhylomeDBiP14060.
TreeFamiTF343138.

Family and domain databases

Gene3Di3.40.50.720. 2 hits.
InterProiIPR002225. 3Beta_OHSteriod_DH/Estase.
IPR016040. NAD(P)-bd_dom.
[Graphical view]
PfamiPF01073. 3Beta_HSD. 1 hit.
[Graphical view]
SUPFAMiSSF51735. SSF51735. 1 hit.

Sequencei

Sequence statusi: Complete.

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

P14060-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MTGWSCLVTG AGGFLGQRII RLLVKEKELK EIRVLDKAFG PELREEFSKL
60 70 80 90 100
QNKTKLTVLE GDILDEPFLK RACQDVSVII HTACIIDVFG VTHRESIMNV
110 120 130 140 150
NVKGTQLLLE ACVQASVPVF IYTSSIEVAG PNSYKEIIQN GHEEEPLENT
160 170 180 190 200
WPAPYPHSKK LAEKAVLAAN GWNLKNGGTL YTCALRPMYI YGEGSRFLSA
210 220 230 240 250
SINEALNNNG ILSSVGKFST VNPVYVGNVA WAHILALRAL QDPKKAPSIR
260 270 280 290 300
GQFYYISDDT PHQSYDNLNY TLSKEFGLRL DSRWSFPLSL MYWIGFLLEI
310 320 330 340 350
VSFLLRPIYT YRPPFNRHIV TLSNSVFTFS YKKAQRDLAY KPLYSWEEAK
360 370
QKTVEWVGSL VDRHKETLKS KTQ
Length:373
Mass (Da):42,252
Last modified:January 23, 2007 - v2
Checksum:i2C76616E7EA7433A
GO

Sequence cautioni

The sequence AAA36001 differs from that shown. Reason: Erroneous gene model prediction.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04809654T → I.Corresponds to variant rs3088283dbSNPEnsembl.1
Natural variantiVAR_04809771R → I.Corresponds to variant rs4986952dbSNPEnsembl.1
Natural variantiVAR_01417479I → V.1 PublicationCorresponds to variant rs6201dbSNPEnsembl.1
Natural variantiVAR_04809890G → S.Corresponds to variant rs6684974dbSNPEnsembl.1
Natural variantiVAR_014175286F → L.1 PublicationCorresponds to variant rs6205dbSNPEnsembl.1
Natural variantiVAR_000005367T → N.2 PublicationsCorresponds to variant rs1047303dbSNPEnsembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M27137 mRNA. Translation: AAA36015.1.
M28392, M28162, M28391 Genomic DNA. Translation: AAA36001.1. Sequence problems.
X53321 mRNA. Translation: CAA37408.1.
M35493 mRNA. Translation: AAA51538.1.
M63397, M63395, M63396 Genomic DNA. Translation: AAA51662.1.
M38180 Genomic DNA. Translation: AAA51831.1.
X55997 mRNA. Translation: CAA39469.1.
S45679 mRNA. Translation: AAB23543.1.
AK291556 mRNA. Translation: BAF84245.1.
BC031999 mRNA. Translation: AAH31999.1.
CCDSiCCDS903.1.
PIRiA36551. DEHUHS.
RefSeqiNP_000853.1. NM_000862.2.
NP_001315544.1. NM_001328615.1.
UniGeneiHs.364941.

Genome annotation databases

EnsembliENST00000369413; ENSP00000358421; ENSG00000203857.
ENST00000528909; ENSP00000432268; ENSG00000203857.
GeneIDi3283.
KEGGihsa:3283.
UCSCiuc001ehv.2. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M27137 mRNA. Translation: AAA36015.1.
M28392, M28162, M28391 Genomic DNA. Translation: AAA36001.1. Sequence problems.
X53321 mRNA. Translation: CAA37408.1.
M35493 mRNA. Translation: AAA51538.1.
M63397, M63395, M63396 Genomic DNA. Translation: AAA51662.1.
M38180 Genomic DNA. Translation: AAA51831.1.
X55997 mRNA. Translation: CAA39469.1.
S45679 mRNA. Translation: AAB23543.1.
AK291556 mRNA. Translation: BAF84245.1.
BC031999 mRNA. Translation: AAH31999.1.
CCDSiCCDS903.1.
PIRiA36551. DEHUHS.
RefSeqiNP_000853.1. NM_000862.2.
NP_001315544.1. NM_001328615.1.
UniGeneiHs.364941.

3D structure databases

ProteinModelPortaliP14060.
SMRiP14060.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi109516. 1 interactor.
STRINGi9606.ENSP00000358421.

Chemistry databases

BindingDBiP14060.
ChEMBLiCHEMBL1958.
DrugBankiDB01108. Trilostane.
SwissLipidsiSLP:000001297.

PTM databases

iPTMnetiP14060.
PhosphoSitePlusiP14060.

Polymorphism and mutation databases

BioMutaiHSD3B1.
DMDMi112767.

Proteomic databases

PaxDbiP14060.
PeptideAtlasiP14060.
PRIDEiP14060.

Protocols and materials databases

DNASUi3283.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000369413; ENSP00000358421; ENSG00000203857.
ENST00000528909; ENSP00000432268; ENSG00000203857.
GeneIDi3283.
KEGGihsa:3283.
UCSCiuc001ehv.2. human.

Organism-specific databases

CTDi3283.
DisGeNETi3283.
GeneCardsiHSD3B1.
H-InvDBHIX0028579.
HGNCiHGNC:5217. HSD3B1.
HPAiHPA043261.
HPA043264.
HPA044028.
MIMi109715. gene.
neXtProtiNX_P14060.
OpenTargetsiENSG00000203857.
PharmGKBiPA29486.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1430. Eukaryota.
COG0451. LUCA.
GeneTreeiENSGT00550000074557.
HOGENOMiHOG000167989.
HOVERGENiHBG000014.
KOiK00070.
OMAiTMAGWSC.
OrthoDBiEOG091G09QZ.
PhylomeDBiP14060.
TreeFamiTF343138.

Enzyme and pathway databases

UniPathwayiUPA00062.
BioCyciMetaCyc:HS08829-MONOMER.
ZFISH:HS08829-MONOMER.
BRENDAi1.1.1.145. 2681.
5.3.3.1. 2681.
ReactomeiR-HSA-193048. Androgen biosynthesis.
R-HSA-193993. Mineralocorticoid biosynthesis.
R-HSA-194002. Glucocorticoid biosynthesis.
SABIO-RKP14060.

Miscellaneous databases

GeneWikiiHSD3B1.
GenomeRNAii3283.
PROiP14060.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000203857.
CleanExiHS_HSD3B1.
ExpressionAtlasiP14060. baseline and differential.
GenevisibleiP14060. HS.

Family and domain databases

Gene3Di3.40.50.720. 2 hits.
InterProiIPR002225. 3Beta_OHSteriod_DH/Estase.
IPR016040. NAD(P)-bd_dom.
[Graphical view]
PfamiPF01073. 3Beta_HSD. 1 hit.
[Graphical view]
SUPFAMiSSF51735. SSF51735. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry namei3BHS1_HUMAN
AccessioniPrimary (citable) accession number: P14060
Secondary accession number(s): A8K691, Q14545, Q8IV65
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 1, 1990
Last sequence update: January 23, 2007
Last modified: November 2, 2016
This is version 173 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

Complete proteome, Direct protein sequencing, Multifunctional enzyme, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: 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. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  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.