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Protein

3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 2

Gene

HSD3B2

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.

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 sitei154Proton acceptorBy similarity1
Binding sitei158NADBy similarity1

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionIsomerase, Multifunctional enzyme, Oxidoreductase
Biological processSteroidogenesis
LigandNAD

Enzyme and pathway databases

BioCyciMetaCyc:HS10943-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
SIGNORiP26439
UniPathwayi
UPA00062

Chemistry databases

SwissLipidsiSLP:000001296

Names & Taxonomyi

Protein namesi
Recommended name:
3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 2
Alternative name(s):
3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type II
Short name:
3-beta-HSD II
3-beta-HSD adrenal and gonadal type
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:HSD3B2
Synonyms:HSDB3B
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

EuPathDBiHostDB:ENSG00000203859.9
HGNCiHGNC:5218 HSD3B2
MIMi613890 gene
neXtProtiNX_P26439

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
Transmembranei287 – 307HelicalSequence analysisAdd BLAST21

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane, Mitochondrion

Pathology & Biotechi

Involvement in diseasei

Adrenal hyperplasia 2 (AH2)17 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of congenital adrenal hyperplasia, a common recessive disease due to defective synthesis of cortisol. Congenital adrenal hyperplasia is characterized by androgen excess leading to ambiguous genitalia in affected females, rapid somatic growth during childhood in both sexes with premature closure of the epiphyses and short adult stature. Four clinical types: 'salt wasting' (SW, the most severe type), 'simple virilizing' (SV, less severely affected patients), with normal aldosterone biosynthesis, 'non-classic form' or late-onset (NC or LOAH) and 'cryptic' (asymptomatic). In AH2, virilization is much less marked or does not occur. AH2 is frequently lethal in early life.
See also OMIM:201810
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01051710A → E in AH2; activity abolished. 2 PublicationsCorresponds to variant dbSNP:rs28934880EnsemblClinVar.1
Natural variantiVAR_01051810A → V in AH2; nonsalt-wasting form. 1 Publication1
Natural variantiVAR_01051915G → D in AH2; activity abolished. 2 Publications1
Natural variantiVAR_07002882A → P in AH2. 1 Publication1
Natural variantiVAR_01052082A → T in AH2. 2 PublicationsCorresponds to variant dbSNP:rs757033996Ensembl.1
Natural variantiVAR_010521100N → S in AH2; nonsalt-wasting form. 2 Publications1
Natural variantiVAR_010522108L → W in AH2; activity abolished. 2 Publications1
Natural variantiVAR_010523129G → R in AH2; nonsalt-wasting form. 3 PublicationsCorresponds to variant dbSNP:rs587628683Ensembl.1
Natural variantiVAR_000006142E → K in AH2; activity abolished. 3 PublicationsCorresponds to variant dbSNP:rs80358219EnsemblClinVar.1
Natural variantiVAR_010524155P → L in AH2; nonsalt-wasting form. 1 PublicationCorresponds to variant dbSNP:rs779418168Ensembl.1
Natural variantiVAR_010525167A → V in AH2; late onset; almost normal activity. 1 PublicationCorresponds to variant dbSNP:rs35486059Ensembl.1
Natural variantiVAR_010526173L → R in AH2; nonsalt-wasting form. 2 PublicationsCorresponds to variant dbSNP:rs762479018Ensembl.1
Natural variantiVAR_010527186P → L in AH2; activity abolished. 2 Publications1
Natural variantiVAR_000007205L → P in AH2. 2 Publications1
Natural variantiVAR_010528213S → G in AH2; late onset; partial loss of activity. 1 PublicationCorresponds to variant dbSNP:rs759422374Ensembl.1
Natural variantiVAR_010529216K → E in AH2; late onset; partial loss of activity. 1 Publication1
Natural variantiVAR_010530222P → H in AH2; nonsalt-wasting form; activity abolished. 1 Publication1
Natural variantiVAR_010531222P → Q in AH2; activity abolished. 2 PublicationsCorresponds to variant dbSNP:rs765547422Ensembl.1
Natural variantiVAR_015411222P → T in AH2. 1 PublicationCorresponds to variant dbSNP:rs80358220EnsemblClinVar.1
Natural variantiVAR_010532231 – 238Missing in AH2; activity abolished. 8
Natural variantiVAR_010533236L → S in AH2; mild; 100% of activity. 2 PublicationsCorresponds to variant dbSNP:rs35887327EnsemblClinVar.1
Natural variantiVAR_000008245A → P in AH2; loss of 88% of activity. 2 Publications1
Natural variantiVAR_000009253Y → N in AH2; activity abolished. 2 Publications1
Natural variantiVAR_000010254Y → D in AH2; activity abolished. 2 Publications1
Natural variantiVAR_010534259T → M in AH2; activity abolished. 2 PublicationsCorresponds to variant dbSNP:rs80358221EnsemblClinVar.1
Natural variantiVAR_000011259T → R in AH2; activity abolished. 2 Publications1
Natural variantiVAR_010535294G → V in AH2; nonsalt-wasting form; activity abolished. 1 Publication1
Natural variantiVAR_065665341P → L in AH2; strongly reduced activity. 1 PublicationCorresponds to variant dbSNP:rs121964897EnsemblClinVar.1
Mild HSD3B2 deficiency in hyperandrogenic females is associated with characteristic traits of polycystic ovary syndrome, such as insulin resistance and luteinizing hormone hypersecretion.1 Publication

Keywords - Diseasei

Congenital adrenal hyperplasia, Disease mutation

Organism-specific databases

DisGeNETi3284
MalaCardsiHSD3B2
MIMi201810 phenotype
OpenTargetsiENSG00000203859
Orphaneti90791 Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency
3185 Polycystic ovary syndrome
PharmGKBiPA29487

Chemistry databases

ChEMBLiCHEMBL3670
DrugBankiDB01285 Corticotropin
DB00603 Medroxyprogesterone acetate
DB00157 NADH
DB01108 Trilostane

Polymorphism and mutation databases

BioMutaiHSD3B2
DMDMi112770

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000877751 – 3723 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 2Add BLAST372

Proteomic databases

EPDiP26439
PaxDbiP26439
PeptideAtlasiP26439
PRIDEiP26439
ProteomicsDBi54346
54347 [P26439-2]

PTM databases

iPTMnetiP26439
PhosphoSitePlusiP26439

Expressioni

Tissue specificityi

Expressed in adrenal gland, testis and ovary.

Gene expression databases

BgeeiENSG00000203859 Expressed in 93 organ(s), highest expression level in adrenal gland
CleanExiHS_HSD3B2
ExpressionAtlasiP26439 baseline and differential
GenevisibleiP26439 HS

Organism-specific databases

HPAiHPA043261
HPA043264
HPA044028

Interactioni

Protein-protein interaction databases

BioGridi109517, 22 interactors
CORUMiP26439
STRINGi9606.ENSP00000358424

Chemistry databases

BindingDBiP26439

Structurei

3D structure databases

ProteinModelPortaliP26439
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
HOVERGENiHBG000014
KOiK00070
OMAiYSYQPPF
OrthoDBiEOG091G09QZ
PhylomeDBiP26439
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, 2 hits

Sequences (2+)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 1 potential isoform that is computationally mapped.iShow all

Isoform 1 (identifier: P26439-1) [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
MGWSCLVTGA GGLLGQRIVR LLVEEKELKE IRALDKAFRP ELREEFSKLQ
60 70 80 90 100
NRTKLTVLEG DILDEPFLKR ACQDVSVVIH TACIIDVFGV THRESIMNVN
110 120 130 140 150
VKGTQLLLEA CVQASVPVFI YTSSIEVAGP NSYKEIIQNG HEEEPLENTW
160 170 180 190 200
PTPYPYSKKL AEKAVLAANG WNLKNGDTLY TCALRPTYIY GEGGPFLSAS
210 220 230 240 250
INEALNNNGI LSSVGKFSTV NPVYVGNVAW AHILALRALR DPKKAPSVRG
260 270 280 290 300
QFYYISDDTP HQSYDNLNYI LSKEFGLRLD SRWSLPLTLM YWIGFLLEVV
310 320 330 340 350
SFLLSPIYSY QPPFNRHTVT LSNSVFTFSY KKAQRDLAYK PLYSWEEAKQ
360 370
KTVEWVGSLV DRHKETLKSK TQ
Length:372
Mass (Da):42,052
Last modified:January 23, 2007 - v2
Checksum:i8E0D933488988451
GO
Isoform 2 (identifier: P26439-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     103-222: GTQLLLEACV...SVGKFSTVNP → ELQNKIKLTV...FIDEKTRTEQ
     223-372: Missing.

Show »
Length:222
Mass (Da):24,987
Checksum:i48A60A9900F0C500
GO

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
Q5QP01Q5QP01_HUMAN
3 beta-hydroxysteroid dehydrogenase...
HSD3B2
195Annotation score:

Sequence cautioni

The sequence AAC60600 differs from that shown. Reason: Frameshift at position 186. The frameshift is caused by a single nucleotide insertion which is found in AH2.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti52 – 53RT → KI in AAD14329 (PubMed:7588414).Curated2
Sequence conflicti92 – 94HRE → RRQ in AAD14329 (PubMed:7588414).Curated3
Sequence conflicti232H → L in BAD96717 (Ref. 4) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01051710A → E in AH2; activity abolished. 2 PublicationsCorresponds to variant dbSNP:rs28934880EnsemblClinVar.1
Natural variantiVAR_01051810A → V in AH2; nonsalt-wasting form. 1 Publication1
Natural variantiVAR_01051915G → D in AH2; activity abolished. 2 Publications1
Natural variantiVAR_04809974D → N. Corresponds to variant dbSNP:rs4986954Ensembl.1
Natural variantiVAR_07002882A → P in AH2. 1 Publication1
Natural variantiVAR_01052082A → T in AH2. 2 PublicationsCorresponds to variant dbSNP:rs757033996Ensembl.1
Natural variantiVAR_01481894E → Q1 PublicationCorresponds to variant dbSNP:rs6211Ensembl.1
Natural variantiVAR_010521100N → S in AH2; nonsalt-wasting form. 2 Publications1
Natural variantiVAR_010522108L → W in AH2; activity abolished. 2 Publications1
Natural variantiVAR_010523129G → R in AH2; nonsalt-wasting form. 3 PublicationsCorresponds to variant dbSNP:rs587628683Ensembl.1
Natural variantiVAR_000006142E → K in AH2; activity abolished. 3 PublicationsCorresponds to variant dbSNP:rs80358219EnsemblClinVar.1
Natural variantiVAR_010524155P → L in AH2; nonsalt-wasting form. 1 PublicationCorresponds to variant dbSNP:rs779418168Ensembl.1
Natural variantiVAR_010525167A → V in AH2; late onset; almost normal activity. 1 PublicationCorresponds to variant dbSNP:rs35486059Ensembl.1
Natural variantiVAR_010526173L → R in AH2; nonsalt-wasting form. 2 PublicationsCorresponds to variant dbSNP:rs762479018Ensembl.1
Natural variantiVAR_010527186P → L in AH2; activity abolished. 2 Publications1
Natural variantiVAR_000007205L → P in AH2. 2 Publications1
Natural variantiVAR_010528213S → G in AH2; late onset; partial loss of activity. 1 PublicationCorresponds to variant dbSNP:rs759422374Ensembl.1
Natural variantiVAR_010529216K → E in AH2; late onset; partial loss of activity. 1 Publication1
Natural variantiVAR_010530222P → H in AH2; nonsalt-wasting form; activity abolished. 1 Publication1
Natural variantiVAR_010531222P → Q in AH2; activity abolished. 2 PublicationsCorresponds to variant dbSNP:rs765547422Ensembl.1
Natural variantiVAR_015411222P → T in AH2. 1 PublicationCorresponds to variant dbSNP:rs80358220EnsemblClinVar.1
Natural variantiVAR_010532231 – 238Missing in AH2; activity abolished. 8
Natural variantiVAR_010533236L → S in AH2; mild; 100% of activity. 2 PublicationsCorresponds to variant dbSNP:rs35887327EnsemblClinVar.1
Natural variantiVAR_000008245A → P in AH2; loss of 88% of activity. 2 Publications1
Natural variantiVAR_000009253Y → N in AH2; activity abolished. 2 Publications1
Natural variantiVAR_000010254Y → D in AH2; activity abolished. 2 Publications1
Natural variantiVAR_010534259T → M in AH2; activity abolished. 2 PublicationsCorresponds to variant dbSNP:rs80358221EnsemblClinVar.1
Natural variantiVAR_000011259T → R in AH2; activity abolished. 2 Publications1
Natural variantiVAR_010535294G → V in AH2; nonsalt-wasting form; activity abolished. 1 Publication1
Natural variantiVAR_065665341P → L in AH2; strongly reduced activity. 1 PublicationCorresponds to variant dbSNP:rs121964897EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_037399103 – 222GTQLL…STVNP → ELQNKIKLTVLEGDILDEPF LKRACQDVSVVIHTACIIDV FGVTHRQSIMNVNVKGRVAW GGDKARWGNEDQKEGQEGKR SLSIEHLLCSGPSDFADHYQ LGELKAAIFSFIDEKTRTEQ in isoform 2. 1 PublicationAdd BLAST120
Alternative sequenceiVSP_037400223 – 372Missing in isoform 2. 1 PublicationAdd BLAST150

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M77144 Genomic DNA Translation: AAA36014.1
M67466 mRNA Translation: AAA36016.1
CR627415 mRNA Translation: CAH10504.1
AK222997 mRNA Translation: BAD96717.1
AL359553 Genomic DNA No translation available.
CH471122 Genomic DNA Translation: EAW56700.1
BC038419 mRNA Translation: AAH38419.1
BC131488 mRNA Translation: AAI31489.1
S80140 Genomic DNA Translation: AAD14329.1
S60309 Genomic DNA Translation: AAC60599.1
S60310 Genomic DNA Translation: AAC60600.1 Frameshift.
CCDSiCCDS902.1 [P26439-1]
PIRiA39488 DEHUH2
RefSeqiNP_000189.1, NM_000198.3 [P26439-1]
NP_001159592.1, NM_001166120.1 [P26439-1]
UniGeneiHs.654399

Genome annotation databases

EnsembliENST00000369416; ENSP00000358424; ENSG00000203859 [P26439-1]
ENST00000543831; ENSP00000445122; ENSG00000203859 [P26439-1]
GeneIDi3284
KEGGihsa:3284
UCSCiuc001eht.4 human [P26439-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry namei3BHS2_HUMAN
AccessioniPrimary (citable) accession number: P26439
Secondary accession number(s): A2RRA5
, Q16010, Q53GD4, Q6AI10, Q6LDB9, Q99890, Q9UD08
Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 1, 1992
Last sequence update: January 23, 2007
Last modified: September 12, 2018
This is version 192 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, Reference proteome
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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