SRD5A2
entrez
6716
canonical
uniprot
P31213
canonical
ensembl
ENSG00000277893
resolver
ensp
ENSP00000477587
resolver
enst
ENST00000622030
resolver
genesymbol
SRD5A2
resolver
hgnc
HGNC:11285
resolver
uniprot
B2RE87
resolver
uniprot
Q2M1R4
resolver
uniprot
Q9BYE6
resolver
uniprot_entry
S5A2_HUMAN
resolver
uniprot_sec
B2RE87
resolver
uniprot_sec
Q2M1R4
resolver
uniprot_sec
Q9BYE6
resolver
amino_acid_sequence
MQVQCQQSPVLAGSATLVALGALALYVAKPSGYGKHTESLKPAATRLPARAAWFLQELPSFAVPAGILARQPLSLFGPPGTVLLGLFCLHYFHRTFVYSLLNRGRPYPAILILRGTAFCTGNGVLQGYYLIYCAEYPDGWYTDIRFSLGVFLFILGMGINIHSDYILRQLRKPGEISYRIPQGGLFTYVSGANFLGEIIEWIGYALATWSLPALAFAFFSLCFLGLRAFHHHRFYLKMFEDYPKSRKALIPFIF
uniprot
proteins
disease_involvement
DISEASE: Pseudovaginal perineoscrotal hypospadias (PPSH) [MIM:264600]: A 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. {ECO:0000269|PubMed:10718838, ECO:0000269|PubMed:10898110, ECO:0000269|PubMed:10999800, ECO:0000269|PubMed:12843198, ECO:0000269|PubMed:15064320, ECO:0000269|PubMed:1522235, ECO:0000269|PubMed:15528927, ECO:0000269|PubMed:15770495, ECO:0000269|PubMed:16098368, ECO:0000269|PubMed:16181229, ECO:0000269|PubMed:7554313, ECO:0000269|PubMed:8626825, ECO:0000269|PubMed:8768837, ECO:0000269|PubMed:9208814, ECO:0000269|PubMed:9745434, ECO:0000269|PubMed:9843052}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
1.3.1.22
uniprot
proteins
function
FUNCTION: Catalyzes the irreversible stereospecific reduction of the delta 4,5 bond (double bond between carbons 4 and 5) of various 3-oxo steroids (3-keto steroids) producing their 5alpha dihydro-3-oxo forms (PubMed:10898110, PubMed:23685396). Converts testosterone into 5-alpha-dihydrotestosterone (DHT), the most active androgen in the prostate, as it is the preferred ligand for androgen receptor (AR) transactivation, making this reaction a key step in male sexual differentiation during development (PubMed:10898110, PubMed:23685396). Besides testosterone, it can also act on other steroids, including progesterone, producing metabolites with diverse roles (PubMed:10898110). Hence, it plays a central role in sexual differentiation and androgen physiology (PubMed:10898110). {ECO:0000269|PubMed:10898110, ECO:0000269|PubMed:23685396}.
uniprot
proteins
mass_dalton
28407
uniprot
proteins
protein_family
Steroid 5-alpha reductase family
uniprot
proteins
pubmed
10501358
uniprot
proteins
pubmed
10718838
uniprot
proteins
pubmed
10898110
uniprot
proteins
pubmed
10999800
uniprot
proteins
pubmed
12843198
uniprot
proteins
pubmed
14560315
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
1505484
uniprot
proteins
pubmed
15064320
uniprot
proteins
pubmed
1522235
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15528927
uniprot
proteins
pubmed
15770495
uniprot
proteins
pubmed
16098368
uniprot
proteins
pubmed
16181229
uniprot
proteins
pubmed
1944596
uniprot
proteins
pubmed
23685396
uniprot
proteins
pubmed
7554313
uniprot
proteins
pubmed
8626825
uniprot
proteins
pubmed
8768837
uniprot
proteins
pubmed
9208814
uniprot
proteins
pubmed
9745434
uniprot
proteins
pubmed
9843052
uniprot
proteins
sequence_length
254
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Microsome membrane; Multi-pass membrane protein. Endoplasmic reticulum membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
uniprot
proteins
transmembrane_region
TRANSMEM 8..28; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 72..92; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 146..166; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 206..226; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins