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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: -Experimental evidence at protein leveli

Functioni

3-beta-HSD is a bifunctional enzyme, that catalyzes the oxidative conversion of Delta5-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-Delta5-steroid + NAD+ = a 3-oxo-Delta5-steroid + NADH.
A 3-oxo-Delta5-steroid = a 3-oxo-Delta4-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
  • cholesterol dehydrogenase activity Source: UniProtKB-EC
  • 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

Keywordsi

Molecular functionIsomerase, Multifunctional enzyme, Oxidoreductase
Biological processSteroidogenesis
LigandNAD

Enzyme and pathway databases

BioCyciMetaCyc: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-RKiP14060
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

EuPathDBiHostDB:ENSG00000203857.9
HGNCiHGNC:5217 HSD3B1
MIMi109715 gene
neXtProtiNX_P14060

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

Topology

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

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane, Mitochondrion

Pathology & Biotechi

Organism-specific databases

DisGeNETi3283
OpenTargetsiENSG00000203857
PharmGKBiPA29486

Chemistry databases

ChEMBLiCHEMBL1958
DrugBankiDB01536 4-Androstenedione
DB00157 NADH
DB01108 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
ProteomicsDBi53017

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
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
OMAiLTYGECD
OrthoDBiEOG091G09QZ
PhylomeDBiP14060
TreeFamiTF343138

Family and domain databases

InterProiView protein in InterPro
IPR002225 3Beta_OHSteriod_DH/Estase
IPR036291 NAD(P)-bd_dom_sf
PfamiView protein in Pfam
PF01073 3Beta_HSD, 1 hit
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 dbSNP:rs3088283Ensembl.1
Natural variantiVAR_04809771R → I. Corresponds to variant dbSNP:rs4986952Ensembl.1
Natural variantiVAR_01417479I → V1 PublicationCorresponds to variant dbSNP:rs6201Ensembl.1
Natural variantiVAR_04809890G → S. Corresponds to variant dbSNP:rs6684974Ensembl.1
Natural variantiVAR_014175286F → L1 PublicationCorresponds to variant dbSNP:rs6205Ensembl.1
Natural variantiVAR_000005367T → N2 PublicationsCorresponds to variant dbSNP:rs1047303Ensembl.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

Entry informationi

Entry namei3BHS1_HUMAN
AccessioniPrimary (citable) accession number: P14060
Secondary accession number(s): A8K691, Q14545, Q8IV65
Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 1, 1990
Last sequence update: January 23, 2007
Last modified: June 20, 2018
This is version 185 of the entry and version 2 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, Direct protein sequencing, 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

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