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UniProtKB - P31213 (S5A2_HUMAN)

Entry version 177 (16 Oct 2019)
Sequence version 1 (01 Jul 1993)
Previous versions | rss
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Protein

3-oxo-5-alpha-steroid 4-dehydrogenase 2

Gene

SRD5A2

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

Converts testosterone (T) into 5-alpha-dihydrotestosterone (DHT) and progesterone or corticosterone into their corresponding 5-alpha-3-oxosteroids. It plays a central role in sexual differentiation and androgen physiology.1 Publication

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">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 ‘Function’ section describes biophysical and chemical properties, such as maximal absorption, kinetic parameters, pH dependence, redox potentials and temperature dependence.<p><a href='/help/biophysicochemical_properties' target='_top'>More...</a></p>Kineticsi

  1. KM=0.9 µM for testosterone (at pH 6.0)1 Publication
  2. KM=8 µM for NADPH (at pH 6.0)1 Publication
  1. Vmax=1.9 nmol/min/mg enzyme with testosterone as substrate with NADPH as cofactor (at pH 6.0)1 Publication

pH dependencei

Optimally active at acidic pHs.

<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

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<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 functionOxidoreductase
Biological processDifferentiation, Sexual differentiation
LigandNADP

Enzyme and pathway databases

BioCyc Collection of Pathway/Genome Databases

More...BioCyci		MetaCyc:HS00619-MONOMER

BRENDA Comprehensive Enzyme Information System

More...BRENDAi		1.3.1.22 2681
1.3.99.5 2681

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-193048 Androgen biosynthesis

<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_and_taxonomy_section">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-oxo-5-alpha-steroid 4-dehydrogenase 2 (EC:1.3.1.221 Publication)
Alternative name(s):
5 alpha-SR2
SR type 2
Steroid 5-alpha-reductase 2
Short name:
S5AR 2
Type II 5-alpha reductase
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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:SRD5A2
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_manual">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 2

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:11285 SRD5A2

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		607306 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_P31213

<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_location_section">'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>Transmembranei8 – 28HelicalSequence analysisAdd BLAST21
Transmembranei72 – 92HelicalSequence analysisAdd BLAST21
Transmembranei146 – 166HelicalSequence analysisAdd BLAST21
Transmembranei206 – 226HelicalSequence analysisAdd BLAST21

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane, Microsome

<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

Pseudovaginal perineoscrotal hypospadias (PPSH)16 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of male pseudohermaphroditism in which 46,XY males show ambiguous genitalia at birth, including perineal hypospadias and a blind perineal pouch, and develop masculinization at puberty. The name of the disorder stems from the finding of a blind-ending perineal opening resembling a vagina and a severely hypospadiac penis with the urethra opening onto the perineum.
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_01310555L → Q in PPSH. 1 PublicationCorresponds to variant dbSNP:rs121434245EnsemblClinVar.1
Natural variantiVAR_01313085G → D in PPSH. 1 PublicationCorresponds to variant dbSNP:rs1351269392Ensembl.1
Natural variantiVAR_013106115G → D in PPSH. 3 PublicationsCorresponds to variant dbSNP:rs121434246EnsemblClinVar.1
Natural variantiVAR_025854123G → R in PPSH. 1 PublicationCorresponds to variant dbSNP:rs1331249320Ensembl.1
Natural variantiVAR_025855126Q → R in PPSH. 1 PublicationCorresponds to variant dbSNP:rs368386747EnsemblClinVar.1
Natural variantiVAR_025851145R → W in PPSH. 1 PublicationCorresponds to variant dbSNP:rs759561106Ensembl.1
Natural variantiVAR_013107157Missing in PPSH. 1 Publication1
Natural variantiVAR_025856158G → R in PPSH. 1 Publication1
Natural variantiVAR_025852181P → L in PPSH. 1 PublicationCorresponds to variant dbSNP:rs1057517829EnsemblClinVar.1
Natural variantiVAR_013108183G → S in PPSH. 2 Publications1
Natural variantiVAR_013109196G → S in PPSH. 3 PublicationsCorresponds to variant dbSNP:rs121434250EnsemblClinVar.1
Natural variantiVAR_013110197E → D in PPSH. 1 PublicationCorresponds to variant dbSNP:rs121434253EnsemblClinVar.1
Natural variantiVAR_013132200E → K in PPSH. 1 PublicationCorresponds to variant dbSNP:rs756853742EnsemblClinVar.1
Natural variantiVAR_025857207A → D in PPSH. 1 PublicationCorresponds to variant dbSNP:rs767564684EnsemblClinVar.1
Natural variantiVAR_013111212P → R in PPSH. 2 PublicationsCorresponds to variant dbSNP:rs121434252EnsemblClinVar.1
Natural variantiVAR_037586227R → Q in PPSH; also in individuals with micropenis; increased affinity for testosterone; increased affinity for NADPH; decreased Vmax. 3 PublicationsCorresponds to variant dbSNP:rs9332964EnsemblClinVar.1
Natural variantiVAR_013112228A → T in PPSH. 1 PublicationCorresponds to variant dbSNP:rs121434249EnsemblClinVar.1
Natural variantiVAR_013113231H → R in PPSH. 1 PublicationCorresponds to variant dbSNP:rs121434251EnsemblClinVar.1
Natural variantiVAR_025853235Y → F in PPSH. 1 PublicationCorresponds to variant dbSNP:rs772283403EnsemblClinVar.1
Natural variantiVAR_013133245S → Y in PPSH. 1 PublicationCorresponds to variant dbSNP:rs145712014EnsemblClinVar.1
Natural variantiVAR_013134246R → Q in PPSH. 2 PublicationsCorresponds to variant dbSNP:rs9332967EnsemblClinVar.1
Natural variantiVAR_005609246R → W in PPSH. 4 PublicationsCorresponds to variant dbSNP:rs121434244EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Pseudohermaphroditism

Organism-specific databases

DisGeNET

More...DisGeNETi		6716

MalaCards human disease database

More...MalaCardsi		SRD5A2
MIMi264600 phenotype

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

More...Orphaneti		753 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
1331 Familial prostate cancer

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA36113

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		P31213

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...ChEMBLi		CHEMBL1856

Drug and drug target database

More...DrugBanki		DB00548 Azelaic acid
DB01126 Dutasteride
DB01216 Finasteride
DB00421 Spironolactone
DB13943 Testosterone cypionate
DB13944 Testosterone enanthate
DB01420 Testosterone propionate
DB13946 Testosterone undecanoate

DrugCentral

More...DrugCentrali		P31213

IUPHAR/BPS Guide to PHARMACOLOGY

More...GuidetoPHARMACOLOGYi		2633

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		SRD5A2

Domain mapping of disease mutations (DMDM)

More...DMDMi		401056

<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_00002136761 – 2543-oxo-5-alpha-steroid 4-dehydrogenase 2Add BLAST254

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		P31213

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		P31213

PeptideAtlas

More...PeptideAtlasi		P31213

PRoteomics IDEntifications database

More...PRIDEi		P31213

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		54764

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		P31213

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

More...PhosphoSitePlusi		P31213

<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 high levels in the prostate and many other androgen-sensitive tissues.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000277893 Expressed in 51 organ(s), highest expression level in liver

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		P31213 HS

<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)

More...BioGridi		112594, 1 interactor

Protein interaction database and analysis system

More...IntActi		P31213, 2 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000477587

Chemistry databases

BindingDB database of measured binding affinities

More...BindingDBi		P31213

<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 steroid 5-alpha reductase family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		P31213

KEGG Orthology (KO)

More...KOi		K12344

Database of Orthologous Groups

More...OrthoDBi		1574389at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		P31213

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR016636 3-oxo-5-alpha-steroid_4-DH
IPR001104 3-oxo-5_a-steroid_4-DH_C
IPR039357 SRD5A/TECR

The PANTHER Classification System

More...PANTHERi		PTHR10556 PTHR10556, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF02544 Steroid_dh, 1 hit

PIRSF; a whole-protein classification database

More...PIRSFi		PIRSF015596 5_alpha-SR2, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS50244 S5A_REDUCTASE, 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_length">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>Sequencei

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">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.

P31213-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MQVQCQQSPV LAGSATLVAL GALALYVAKP SGYGKHTESL KPAATRLPAR 
        60         70         80         90        100
AAWFLQELPS FAVPAGILAR QPLSLFGPPG TVLLGLFCVH YFHRTFVYSL 
       110        120        130        140        150
LNRGRPYPAI LILRGTAFCT GNGVLQGYYL IYCAEYPDGW YTDIRFSLGV 
       160        170        180        190        200
FLFILGMGIN IHSDYILRQL RKPGEISYRI PQGGLFTYVS GANFLGEIIE 
       210        220        230        240        250
WIGYALATWS LPALAFAFFS LCFLGLRAFH HHRFYLKMFE DYPKSRKALI 

PFIF
Length:254
Mass (Da):28,393
Last modified:July 1, 1993 - v1
<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:iE65A19C8600DED05
GO

<p>This subsection of the ‘Sequence’ section provides information on polymorphic variants. If the variant is associated with a disease state, the description of the latter can be found in the <a href="http://www.uniprot.org/manual/involvement_in_disease">'Involvement in disease'</a> subsection.<p><a href='/help/polymorphism' target='_top'>More...</a></p>Polymorphismi

Individuals with Thr-49 have an increased risk of prostate cancer (PubMed:10501358). The enzyme with Thr-49 has a higher in vitro V(max) than the Ala-49 enzyme (PubMed:10501358).1 Publication

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0775465C → R No effect on affinity for testosterone; no effect on affinity for NADPH; no effect on Vmax. 1 PublicationCorresponds to variant dbSNP:rs61748120EnsemblClinVar.1
Natural variantiVAR_07754730P → L Increased affinity for testosterone; increased affinity for NADPH; decreased Vmax. 1 Publication1
Natural variantiVAR_07754848P → R Increased affinity for testosterone; increased affinity for NADPH; decreased Vmax. 1 PublicationCorresponds to variant dbSNP:rs61748122EnsemblClinVar.1
Natural variantiVAR_01310449A → T Increased affinity for testosterone; no effect on affinity for NADPH; increased Vmax; no effect on affinity for testosterone when associated with L-89; no effect on affinity for NADPH when associated with L-89; increased Vmax when associated with L-89. 6 PublicationsCorresponds to variant dbSNP:rs9282858EnsemblClinVar.1
Natural variantiVAR_07754951A → T No effect on affinity for testosterone; increased affinity for NADPH; decreased Vmax. 1 PublicationCorresponds to variant dbSNP:rs61748123EnsemblClinVar.1
Natural variantiVAR_01310555L → Q in PPSH. 1 PublicationCorresponds to variant dbSNP:rs121434245EnsemblClinVar.1
Natural variantiVAR_01313085G → D in PPSH. 1 PublicationCorresponds to variant dbSNP:rs1351269392Ensembl.1
Natural variantiVAR_01313189V → L No effect on affinity for testosterone; no effect on affinity for NADPH; decreased Vmax; no effect on affinity for testosterone when associated with T-49; no effect on affinity for NADPH when associated with T-49; increased Vmax when associated with T-49; decreased affinity for testosterone when associated with M-187; increased affinity for NADPH when associated with M-187; decreased Vmax when associated with M-187; no effect on affinity for testosterone when associated with L-234; increased affinity for NADPH when associated with L-234; decreased Vmax when associated with L-234. 8 PublicationsCorresponds to variant dbSNP:rs523349Ensembl.1
Natural variantiVAR_022302113L → V1 PublicationCorresponds to variant dbSNP:rs28383048EnsemblClinVar.1
Natural variantiVAR_013106115G → D in PPSH. 3 PublicationsCorresponds to variant dbSNP:rs121434246EnsemblClinVar.1
Natural variantiVAR_025854123G → R in PPSH. 1 PublicationCorresponds to variant dbSNP:rs1331249320Ensembl.1
Natural variantiVAR_025855126Q → R in PPSH. 1 PublicationCorresponds to variant dbSNP:rs368386747EnsemblClinVar.1
Natural variantiVAR_025851145R → W in PPSH. 1 PublicationCorresponds to variant dbSNP:rs759561106Ensembl.1
Natural variantiVAR_013107157Missing in PPSH. 1 Publication1
Natural variantiVAR_025856158G → R in PPSH. 1 Publication1
Natural variantiVAR_025852181P → L in PPSH. 1 PublicationCorresponds to variant dbSNP:rs1057517829EnsemblClinVar.1
Natural variantiVAR_013108183G → S in PPSH. 2 Publications1
Natural variantiVAR_077550187T → M No effect on affinity for testosterone; increased affinity for NADPH; decreased Vmax; decreased affinity for testosterone when associated with L-89; increased affinity for NADPH when associated with L-89; decreased Vmax when associated with L-89. 1 PublicationCorresponds to variant dbSNP:rs61748125EnsemblClinVar.1
Natural variantiVAR_077551194F → L No effect on affinity for testosterone; increased affinity for NADPH; increased Vmax. 1 PublicationCorresponds to variant dbSNP:rs61748126EnsemblClinVar.1
Natural variantiVAR_013109196G → S in PPSH. 3 PublicationsCorresponds to variant dbSNP:rs121434250EnsemblClinVar.1
Natural variantiVAR_013110197E → D in PPSH. 1 PublicationCorresponds to variant dbSNP:rs121434253EnsemblClinVar.1
Natural variantiVAR_013132200E → K in PPSH. 1 PublicationCorresponds to variant dbSNP:rs756853742EnsemblClinVar.1
Natural variantiVAR_059791203G → S. Corresponds to variant dbSNP:rs9332961EnsemblClinVar.1
Natural variantiVAR_025857207A → D in PPSH. 1 PublicationCorresponds to variant dbSNP:rs767564684EnsemblClinVar.1
Natural variantiVAR_013111212P → R in PPSH. 2 PublicationsCorresponds to variant dbSNP:rs121434252EnsemblClinVar.1
Natural variantiVAR_059792224L → H. Corresponds to variant dbSNP:rs9332963Ensembl.1
Natural variantiVAR_037585224L → M. Corresponds to variant dbSNP:rs9332963Ensembl.1
Natural variantiVAR_037586227R → Q in PPSH; also in individuals with micropenis; increased affinity for testosterone; increased affinity for NADPH; decreased Vmax. 3 PublicationsCorresponds to variant dbSNP:rs9332964EnsemblClinVar.1
Natural variantiVAR_013112228A → T in PPSH. 1 PublicationCorresponds to variant dbSNP:rs121434249EnsemblClinVar.1
Natural variantiVAR_013113231H → R in PPSH. 1 PublicationCorresponds to variant dbSNP:rs121434251EnsemblClinVar.1
Natural variantiVAR_077552234F → L Increased affinity for testosterone; increased affinity for NADPH; decreased Vmax; no effect on affinity for testosterone when associated with L-89; increased affinity for NADPH when associated with L-89; decreased Vmax when associated with L-89. 1 PublicationCorresponds to variants dbSNP:rs9332966 and dbSNP:rs1378704759EnsemblClinVarEnsembl.1
Natural variantiVAR_025853235Y → F in PPSH. 1 PublicationCorresponds to variant dbSNP:rs772283403EnsemblClinVar.1
Natural variantiVAR_013133245S → Y in PPSH. 1 PublicationCorresponds to variant dbSNP:rs145712014EnsemblClinVar.1
Natural variantiVAR_013134246R → Q in PPSH. 2 PublicationsCorresponds to variant dbSNP:rs9332967EnsemblClinVar.1
Natural variantiVAR_005609246R → W in PPSH. 4 PublicationsCorresponds to variant dbSNP:rs121434244EnsemblClinVar.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
M74047 mRNA Translation: AAA60586.1
AB047857 Genomic DNA Translation: BAB40419.1
EF560740 mRNA Translation: ABQ59050.1
AY884245 Genomic DNA Translation: AAW56942.1
AK316597 mRNA Translation: BAG38184.1
CH471053 Genomic DNA Translation: EAX00478.1
BC112252 mRNA Translation: AAI12253.1
BC113641 mRNA Translation: AAI13642.1
L03843 Genomic DNA No translation available.

The Consensus CDS (CCDS) project

More...CCDSi		CCDS74503.1

Protein sequence database of the Protein Information Resource

More...PIRi		A49169

NCBI Reference Sequences

More...RefSeqi		NP_000339.2, NM_000348.3

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000622030; ENSP00000477587; ENSG00000277893

Database of genes from NCBI RefSeq genomes

More...GeneIDi		6716

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:6716

UCSC genome browser

More...UCSCi		uc032nip.2 human

Keywords - Coding sequence diversityi

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

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

NIEHS-SNPs
Wikipedia

5-alpha reductase entry

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M74047 mRNA Translation: AAA60586.1
AB047857 Genomic DNA Translation: BAB40419.1
EF560740 mRNA Translation: ABQ59050.1
AY884245 Genomic DNA Translation: AAW56942.1
AK316597 mRNA Translation: BAG38184.1
CH471053 Genomic DNA Translation: EAX00478.1
BC112252 mRNA Translation: AAI12253.1
BC113641 mRNA Translation: AAI13642.1
L03843 Genomic DNA No translation available.
CCDSiCCDS74503.1
PIRiA49169
RefSeqiNP_000339.2, NM_000348.3

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

BioGridi112594, 1 interactor
IntActiP31213, 2 interactors
STRINGi9606.ENSP00000477587

Chemistry databases

BindingDBiP31213
ChEMBLiCHEMBL1856
DrugBankiDB00548 Azelaic acid
DB01126 Dutasteride
DB01216 Finasteride
DB00421 Spironolactone
DB13943 Testosterone cypionate
DB13944 Testosterone enanthate
DB01420 Testosterone propionate
DB13946 Testosterone undecanoate
DrugCentraliP31213
GuidetoPHARMACOLOGYi2633

PTM databases

iPTMnetiP31213
PhosphoSitePlusiP31213

Polymorphism and mutation databases

BioMutaiSRD5A2
DMDMi401056

Proteomic databases

jPOSTiP31213
MassIVEiP31213
PeptideAtlasiP31213
PRIDEiP31213
ProteomicsDBi54764

Protocols and materials databases

The DNASU plasmid repository

More...DNASUi		6716

Genome annotation databases

EnsembliENST00000622030; ENSP00000477587; ENSG00000277893
GeneIDi6716
KEGGihsa:6716
UCSCiuc032nip.2 human

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		6716
DisGeNETi6716

GeneCards: human genes, protein and diseases

More...GeneCardsi		SRD5A2
HGNCiHGNC:11285 SRD5A2
MalaCardsiSRD5A2
MIMi264600 phenotype
607306 gene
neXtProtiNX_P31213
Orphaneti753 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
1331 Familial prostate cancer
PharmGKBiPA36113

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

InParanoidiP31213
KOiK12344
OrthoDBi1574389at2759
PhylomeDBiP31213

Enzyme and pathway databases

BioCyciMetaCyc:HS00619-MONOMER
BRENDAi1.3.1.22 2681
1.3.99.5 2681
ReactomeiR-HSA-193048 Androgen biosynthesis

Miscellaneous databases

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

More...ChiTaRSi		SRD5A2 human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		SRD5A2

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

More...GenomeRNAii		6716
PharosiP31213

Protein Ontology

More...PROi		PR:P31213

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000277893 Expressed in 51 organ(s), highest expression level in liver
GenevisibleiP31213 HS

Family and domain databases

InterProiView protein in InterPro
IPR016636 3-oxo-5-alpha-steroid_4-DH
IPR001104 3-oxo-5_a-steroid_4-DH_C
IPR039357 SRD5A/TECR
PANTHERiPTHR10556 PTHR10556, 1 hit
PfamiView protein in Pfam
PF02544 Steroid_dh, 1 hit
PIRSFiPIRSF015596 5_alpha-SR2, 1 hit
PROSITEiView protein in PROSITE
PS50244 S5A_REDUCTASE, 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 nameiS5A2_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: P31213
Secondary accession number(s): B2RE87, Q2M1R4, Q9BYE6
<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_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 1, 1993
Last sequence update: July 1, 1993
Last modified: October 16, 2019
This is version 177 of the entry and version 1 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

Complete proteome, Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  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
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