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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-Experimental evidence at protein leveli

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.

Catalytic activityi

A 3-oxo-5-alpha-steroid + NADP+ = a 3-oxo-Delta(4)-steroid + NADPH.

pH dependencei

Optimally active at acidic pHs.

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Oxidoreductase

Keywords - Biological processi

Differentiation, Sexual differentiation

Keywords - Ligandi

NADP

Enzyme and pathway databases

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

Names & Taxonomyi

Protein namesi
Recommended name:
3-oxo-5-alpha-steroid 4-dehydrogenase 2 (EC:1.3.1.22)
Alternative name(s):
5 alpha-SR2
SR type 2
Steroid 5-alpha-reductase 2
Short name:
S5AR 2
Type II 5-alpha reductase
Gene namesi
Name:SRD5A2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

HGNCiHGNC:11285. SRD5A2.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei8 – 28HelicalSequence analysisAdd BLAST21
Transmembranei72 – 92HelicalSequence analysisAdd BLAST21
Transmembranei146 – 166HelicalSequence analysisAdd BLAST21
Transmembranei206 – 226HelicalSequence analysisAdd BLAST21

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane, Microsome

Pathology & Biotechi

Involvement in diseasei

Pseudovaginal perineoscrotal hypospadias (PPSH)13 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.
See also OMIM:264600
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01310555L → Q in PPSH. 1 Publication1
Natural variantiVAR_01313085G → D in PPSH. 1 Publication1
Natural variantiVAR_013106115G → D in PPSH. 3 Publications1
Natural variantiVAR_025854123G → R in PPSH. 1 Publication1
Natural variantiVAR_025855126Q → R in PPSH. 1 Publication1
Natural variantiVAR_025851145R → W in PPSH. 1 Publication1
Natural variantiVAR_013107157Missing in PPSH. 1 Publication1
Natural variantiVAR_025856158G → R in PPSH. 1 Publication1
Natural variantiVAR_025852181P → L in PPSH. 1 Publication1
Natural variantiVAR_013108183G → S in PPSH. 2 Publications1
Natural variantiVAR_013109196G → S in PPSH. 3 Publications1
Natural variantiVAR_013110197E → D in PPSH. 1 Publication1
Natural variantiVAR_013132200E → K in PPSH. 1 Publication1
Natural variantiVAR_025857207A → D in PPSH. 1 Publication1
Natural variantiVAR_013111212P → R in PPSH. 2 Publications1
Natural variantiVAR_013112228A → T in PPSH. 1 Publication1
Natural variantiVAR_013113231H → R in PPSH. 1 Publication1
Natural variantiVAR_025853235Y → F in PPSH. 1 Publication1
Natural variantiVAR_013133245S → Y in PPSH. 1 Publication1
Natural variantiVAR_013134246R → Q in PPSH. 2 PublicationsCorresponds to variant rs9332967dbSNPEnsembl.1
Natural variantiVAR_005609246R → W in PPSH. 4 Publications1

Keywords - Diseasei

Disease mutation, Pseudohermaphroditism

Organism-specific databases

DisGeNETi6716.
MalaCardsiSRD5A2.
MIMi264600. phenotype.
Orphaneti753. 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency.
1331. Familial prostate cancer.
PharmGKBiPA36113.

Chemistry databases

ChEMBLiCHEMBL1856.
DrugBankiDB00548. Azelaic Acid.
DB01126. Dutasteride.
DB01216. Finasteride.
DB00421. Spironolactone.
GuidetoPHARMACOLOGYi2633.

Polymorphism and mutation databases

BioMutaiSRD5A2.
DMDMi401056.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002136761 – 2543-oxo-5-alpha-steroid 4-dehydrogenase 2Add BLAST254

Proteomic databases

PeptideAtlasiP31213.
PRIDEiP31213.

PTM databases

iPTMnetiP31213.
PhosphoSitePlusiP31213.

Expressioni

Tissue specificityi

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

Gene expression databases

CleanExiHS_SRD5A2.
GenevisibleiP31213. HS.

Interactioni

Chemistry databases

BindingDBiP31213.

Structurei

3D structure databases

ProteinModelPortaliP31213.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the steroid 5-alpha reductase family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

HOVERGENiHBG003402.
InParanoidiP31213.
KOiK12344.
OrthoDBiEOG091G0KU4.
PhylomeDBiP31213.

Family and domain databases

InterProiIPR016636. 3-oxo-5-alpha-steroid_4-DH.
IPR001104. 3-oxo-5_a-steroid_4-DH_C.
[Graphical view]
PfamiPF02544. Steroid_dh. 1 hit.
[Graphical view]
PIRSFiPIRSF015596. 5_alpha-SR2. 1 hit.
PROSITEiPS50244. S5A_REDUCTASE. 1 hit.
[Graphical view]

Sequencei

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
Checksum:iE65A19C8600DED05
GO

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_01310449A → T.5 PublicationsCorresponds to variant rs9282858dbSNPEnsembl.1
Natural variantiVAR_01310555L → Q in PPSH. 1 Publication1
Natural variantiVAR_01313085G → D in PPSH. 1 Publication1
Natural variantiVAR_01313189V → L.7 PublicationsCorresponds to variant rs523349dbSNPEnsembl.1
Natural variantiVAR_022302113L → V.1 PublicationCorresponds to variant rs28383048dbSNPEnsembl.1
Natural variantiVAR_013106115G → D in PPSH. 3 Publications1
Natural variantiVAR_025854123G → R in PPSH. 1 Publication1
Natural variantiVAR_025855126Q → R in PPSH. 1 Publication1
Natural variantiVAR_025851145R → W in PPSH. 1 Publication1
Natural variantiVAR_013107157Missing in PPSH. 1 Publication1
Natural variantiVAR_025856158G → R in PPSH. 1 Publication1
Natural variantiVAR_025852181P → L in PPSH. 1 Publication1
Natural variantiVAR_013108183G → S in PPSH. 2 Publications1
Natural variantiVAR_013109196G → S in PPSH. 3 Publications1
Natural variantiVAR_013110197E → D in PPSH. 1 Publication1
Natural variantiVAR_013132200E → K in PPSH. 1 Publication1
Natural variantiVAR_059791203G → S.Corresponds to variant rs9332961dbSNPEnsembl.1
Natural variantiVAR_025857207A → D in PPSH. 1 Publication1
Natural variantiVAR_013111212P → R in PPSH. 2 Publications1
Natural variantiVAR_059792224L → H.Corresponds to variant rs9332963dbSNPEnsembl.1
Natural variantiVAR_037585224L → M.Corresponds to variant rs9332963dbSNPEnsembl.1
Natural variantiVAR_037586227R → Q in micropenis. 1 PublicationCorresponds to variant rs9332964dbSNPEnsembl.1
Natural variantiVAR_013112228A → T in PPSH. 1 Publication1
Natural variantiVAR_013113231H → R in PPSH. 1 Publication1
Natural variantiVAR_025853235Y → F in PPSH. 1 Publication1
Natural variantiVAR_013133245S → Y in PPSH. 1 Publication1
Natural variantiVAR_013134246R → Q in PPSH. 2 PublicationsCorresponds to variant rs9332967dbSNPEnsembl.1
Natural variantiVAR_005609246R → W in PPSH. 4 Publications1

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.
UniGeneiHs.458345.

Genome annotation databases

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

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

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.
UniGeneiHs.458345.

3D structure databases

ProteinModelPortaliP31213.
ModBaseiSearch...
MobiDBiSearch...

Chemistry databases

BindingDBiP31213.
ChEMBLiCHEMBL1856.
DrugBankiDB00548. Azelaic Acid.
DB01126. Dutasteride.
DB01216. Finasteride.
DB00421. Spironolactone.
GuidetoPHARMACOLOGYi2633.

PTM databases

iPTMnetiP31213.
PhosphoSitePlusiP31213.

Polymorphism and mutation databases

BioMutaiSRD5A2.
DMDMi401056.

Proteomic databases

PeptideAtlasiP31213.
PRIDEiP31213.

Protocols and materials databases

DNASUi6716.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi6716.
DisGeNETi6716.
GeneCardsiSRD5A2.
H-InvDBHIX0030017.
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.
GenAtlasiSearch...

Phylogenomic databases

HOVERGENiHBG003402.
InParanoidiP31213.
KOiK12344.
OrthoDBiEOG091G0KU4.
PhylomeDBiP31213.

Enzyme and pathway databases

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

Miscellaneous databases

ChiTaRSiSRD5A2. human.
GeneWikiiSRD5A2.
GenomeRNAii6716.
PROiP31213.
SOURCEiSearch...

Gene expression databases

CleanExiHS_SRD5A2.
GenevisibleiP31213. HS.

Family and domain databases

InterProiIPR016636. 3-oxo-5-alpha-steroid_4-DH.
IPR001104. 3-oxo-5_a-steroid_4-DH_C.
[Graphical view]
PfamiPF02544. Steroid_dh. 1 hit.
[Graphical view]
PIRSFiPIRSF015596. 5_alpha-SR2. 1 hit.
PROSITEiPS50244. S5A_REDUCTASE. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiS5A2_HUMAN
AccessioniPrimary (citable) accession number: P31213
Secondary accession number(s): B2RE87, Q2M1R4, Q9BYE6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 1, 1993
Last sequence update: July 1, 1993
Last modified: November 2, 2016
This is version 159 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.