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Entry version 206 (26 Feb 2020)
Sequence version 2 (23 Jan 2007)
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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:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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.

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section describes the metabolic pathway(s) associated with a protein.<p><a href='/help/pathway' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section is used for enzymes and indicates the residues directly involved in catalysis.<p><a href='/help/act_site' target='_top'>More...</a></p>Active sitei154Proton acceptorBy similarity1
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei158NADBy similarity1

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionIsomerase, Multifunctional enzyme, Oxidoreductase
Biological processSteroidogenesis
LigandNAD

Enzyme and pathway databases

BioCyc Collection of Pathway/Genome Databases

More...
BioCyci
MetaCyc:HS10943-MONOMER

BRENDA Comprehensive Enzyme Information System

More...
BRENDAi
1.1.1.145 2681
5.3.3.1 2681

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-193048 Androgen biosynthesis
R-HSA-193993 Mineralocorticoid biosynthesis
R-HSA-194002 Glucocorticoid biosynthesis

SIGNOR Signaling Network Open Resource

More...
SIGNORi
P26439

UniPathway: a resource for the exploration and annotation of metabolic pathways

More...
UniPathwayi
UPA00062

Chemistry databases

SwissLipids knowledge resource for lipid biology

More...
SwissLipidsi
SLP:000001296

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:HSD3B2
Synonyms:HSDB3B
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 1

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:5218 HSD3B2

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
613890 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P26439

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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 & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei287 – 307HelicalSequence analysisAdd BLAST21

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane, Mitochondrion

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>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 PublicationCorresponds to variant dbSNP:rs28934880EnsemblClinVar.1
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 PublicationsCorresponds to variant dbSNP:rs1388517943Ensembl.1
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 PublicationsCorresponds to variant dbSNP:rs1399005702Ensembl.1
Natural variantiVAR_000010254Y → D in AH2; activity abolished. 2 PublicationsCorresponds to variant dbSNP:rs1411029929Ensembl.1
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

DisGeNET

More...
DisGeNETi
3284

MalaCards human disease database

More...
MalaCardsi
HSD3B2
MIMi201810 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000203859

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
90791 Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA29487

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
P26439 Tclin

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL3670

Drug and drug target database

More...
DrugBanki
DB01285 Corticotropin
DB00603 Medroxyprogesterone acetate
DB00157 NADH
DB09070 Tibolone
DB01108 Trilostane

DrugCentral

More...
DrugCentrali
P26439

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
HSD3B2

Domain mapping of disease mutations (DMDM)

More...
DMDMi
112770

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000877751 – 3723 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 2Add BLAST372

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
P26439

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
P26439

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
P26439

PeptideAtlas

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PeptideAtlasi
P26439

PRoteomics IDEntifications database

More...
PRIDEi
P26439

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
54346 [P26439-1]
54347 [P26439-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
P26439

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
P26439

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Expressed in adrenal gland, testis and ovary.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000203859 Expressed in adrenal gland and 92 other tissues

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
P26439 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
P26439 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA043261
HPA043264
HPA044028

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
109517, 22 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
P26439

Protein interaction database and analysis system

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IntActi
P26439, 18 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000445122

Chemistry databases

BindingDB database of measured binding affinities

More...
BindingDBi
P26439

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
P26439 protein

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the 3-beta-HSD family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG1430 Eukaryota
COG0451 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000161374

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_007383_6_3_1

KEGG Orthology (KO)

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KOi
K00070

Identification of Orthologs from Complete Genome Data

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OMAi
CRFLLGH

Database of Orthologous Groups

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OrthoDBi
562253at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
P26439

TreeFam database of animal gene trees

More...
TreeFami
TF343138

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR002225 3Beta_OHSteriod_DH/Estase
IPR036291 NAD(P)-bd_dom_sf

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF01073 3Beta_HSD, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF51735 SSF51735, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 1 (identifier: P26439-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>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:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

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

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>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 PublicationCorresponds to variant dbSNP:rs28934880EnsemblClinVar.1
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 PublicationsCorresponds to variant dbSNP:rs1388517943Ensembl.1
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 PublicationsCorresponds to variant dbSNP:rs1399005702Ensembl.1
Natural variantiVAR_000010254Y → D in AH2; activity abolished. 2 PublicationsCorresponds to variant dbSNP:rs1411029929Ensembl.1
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
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>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:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
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.

The Consensus CDS (CCDS) project

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CCDSi
CCDS902.1 [P26439-1]

Protein sequence database of the Protein Information Resource

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PIRi
A39488 DEHUH2

NCBI Reference Sequences

More...
RefSeqi
NP_000189.1, NM_000198.3 [P26439-1]
NP_001159592.1, NM_001166120.1 [P26439-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000369416; ENSP00000358424; ENSG00000203859 [P26439-1]
ENST00000543831; ENSP00000445122; ENSG00000203859 [P26439-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
3284

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:3284

UCSC genome browser

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UCSCi
uc001eht.4 human [P26439-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

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]

3D structure databases

Database of comparative protein structure models

More...
ModBasei
Search...

SWISS-MODEL Interactive Workspace

More...
SWISS-MODEL-Workspacei
Submit a new modelling project...

Protein-protein interaction databases

BioGridi109517, 22 interactors
CORUMiP26439
IntActiP26439, 18 interactors
STRINGi9606.ENSP00000445122

Chemistry databases

BindingDBiP26439
ChEMBLiCHEMBL3670
DrugBankiDB01285 Corticotropin
DB00603 Medroxyprogesterone acetate
DB00157 NADH
DB09070 Tibolone
DB01108 Trilostane
DrugCentraliP26439
SwissLipidsiSLP:000001296

PTM databases

iPTMnetiP26439
PhosphoSitePlusiP26439

Polymorphism and mutation databases

BioMutaiHSD3B2
DMDMi112770

Proteomic databases

jPOSTiP26439
MassIVEiP26439
PaxDbiP26439
PeptideAtlasiP26439
PRIDEiP26439
ProteomicsDBi54346 [P26439-1]
54347 [P26439-2]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
3284

Genome annotation databases

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

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
3284
DisGeNETi3284

GeneCards: human genes, protein and diseases

More...
GeneCardsi
HSD3B2
HGNCiHGNC:5218 HSD3B2
HPAiHPA043261
HPA043264
HPA044028
MalaCardsiHSD3B2
MIMi201810 phenotype
613890 gene
neXtProtiNX_P26439
OpenTargetsiENSG00000203859
Orphaneti90791 Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency
PharmGKBiPA29487

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1430 Eukaryota
COG0451 LUCA
GeneTreeiENSGT00940000161374
HOGENOMiCLU_007383_6_3_1
KOiK00070
OMAiCRFLLGH
OrthoDBi562253at2759
PhylomeDBiP26439
TreeFamiTF343138

Enzyme and pathway databases

UniPathwayiUPA00062
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

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
HSD3B2 human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
HSD3B2

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
3284
PharosiP26439 Tclin

Protein Ontology

More...
PROi
PR:P26439
RNActiP26439 protein

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000203859 Expressed in adrenal gland and 92 other tissues
ExpressionAtlasiP26439 baseline and differential
GenevisibleiP26439 HS

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

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry namei3BHS2_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P26439
Secondary accession number(s): A2RRA5
, Q16010, Q53GD4, Q6AI10, Q6LDB9, Q99890, Q9UD08
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 1, 1992
Last sequence update: January 23, 2007
Last modified: February 26, 2020
This is version 206 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Reference proteome

Documents

  1. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
UniProt is an ELIXIR core data resource
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