HSD17B3
entrez
3293
canonical
uniprot
P37058
canonical
ensembl
ENSG00000130948
resolver
ensp
ENSP00000364412
resolver
genesymbol
HSD17B3
resolver
genesymbol_syn
EDH17B3
resolver
genesymbol_syn
SDR12C2
resolver
hgnc
HGNC:5212
resolver
uniprot
Q5U0Q6
resolver
uniprot
Q6FH62
resolver
uniprot_entry
DHB3_HUMAN
resolver
uniprot_entry
Q6FH62_HUMAN
resolver
uniprot_sec
Q5U0Q6
resolver
amino_acid_sequence
MGDVLEQFFILTGLLVCLACLAKCVRFSRCVLLNYWKVLPKSFLRSMGQWAVITGAGDGIGKAYSFELAKRGLNVVLISRTLEKLEAIATEIERTTGRSVKIIQADFTKDDIYEHIKEKLAGLEIGILVNNVGMLPNLLPSHFLNAPDEIQSLIHCNITSVVKMTQLILKHMESRQKGLILNISSGIALFPWPLYSMYSASKAFVCAFSKALQEEYKAKEVIIQVLTPYAVSTAMTKYLNTNVITKTADEFVKESLNYVTIGGETCGCLAHEILAGFLSLIPAWAFYSGAFQRLLLTHYVAYLKLNTKVR
uniprot
proteins
disease_involvement
DISEASE: Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300]: An autosomal recessive disorder that manifests, in males, as undermasculinization characterized by hypoplastic-to-normal internal genitalia (epididymis, vas deferens, seminal vesicles, and ejaculatory ducts) but female external genitalia and the absence of a prostate. This phenotype is caused by inadequate testicular synthesis of testosterone, which, in turn, results in insufficient formation of dihydrotestosterone in the anlage of the external genitalia and prostate during fetal development. At the expected time of puberty, there is a marked increase in plasma leuteinizing hormone and, consequently, in testicular secretion of androstenedione. Hence, a diagnostic hallmark of this disorder is a decreased plasma testosterone-to-androstenedione ratio. Significant amounts of the circulating androstenedione are, however, converted to testosterone, in peripheral tissues, thereby causing virilization. {ECO:0000269|PubMed:11158067, ECO:0000269|PubMed:26545797, ECO:0000269|PubMed:8075637, ECO:0000269|PubMed:8550739, ECO:0000269|PubMed:9709959, ECO:0000269|PubMed:9758445}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
1.1.1.62
uniprot
proteins
ec_number
1.1.1.64
uniprot
proteins
function
FUNCTION: Catalyzes the conversion of 17-oxosteroids to 17beta-hydroxysteroids (PubMed:16216911, PubMed:23856005, PubMed:26545797, PubMed:27927697, PubMed:8075637). Favors the reduction of androstenedione to testosterone (PubMed:16216911, PubMed:23856005, PubMed:26545797, PubMed:27927697). Testosterone is the key androgen driving male development and function (PubMed:8075637). Uses NADPH while the two other EDH17B enzymes use NADH (PubMed:16216911, PubMed:26545797, PubMed:8075637). Androgens such as epiandrosterone, dehydroepiandrosterone, androsterone and androstanedione are accepted as substrates and reduced at C-17 (PubMed:16216911). Can reduce 11-ketoandrostenedione as well as 11beta-hydroxyandrostenedione at C-17 to the respective testosterone forms (PubMed:16216911, PubMed:27927697). {ECO:0000269|PubMed:16216911, ECO:0000269|PubMed:23856005, ECO:0000269|PubMed:26545797, ECO:0000269|PubMed:27927697, ECO:0000269|PubMed:8075637}.
uniprot
proteins
mass_dalton
34516
uniprot
proteins
mutagenesis
MUTAGEN 133; /note="G->A: Has 70% of wild-type testosterone 17-beta-dehydrogenase (NADP(+)) activity."; /evidence="ECO:0000269|PubMed:26545797"; MUTAGEN 133; /note="G->F: Almost complete loss of testosterone 17-beta-dehydrogenase (NADP(+)) activity."; /evidence="ECO:0000269|PubMed:26545797"; MUTAGEN 133; /note="G->Q: Almost complete loss of testosterone 17-beta-dehydrogenase (NADP(+)) activity."; /evidence="ECO:0000269|PubMed:26545797
uniprot
proteins
pathway_participation
PATHWAY: Hormone biosynthesis; testosterone biosynthesis. {ECO:0000305|PubMed:16216911, ECO:0000305|PubMed:26545797}.; PATHWAY: Steroid metabolism. {ECO:0000305}.
uniprot
proteins
protein_family
17-beta-HSD 3 subfamily
uniprot
proteins
protein_family
Short-chain dehydrogenases/reductases (SDR) family
uniprot
proteins
pubmed
11158067
uniprot
proteins
pubmed
15164053
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16216911
uniprot
proteins
pubmed
23856005
uniprot
proteins
pubmed
26545797
uniprot
proteins
pubmed
27927697
uniprot
proteins
pubmed
8075637
uniprot
proteins
pubmed
8550739
uniprot
proteins
pubmed
9709959
uniprot
proteins
pubmed
9758445
uniprot
proteins
sequence_length
310
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum {ECO:0000269|PubMed:16216911, ECO:0000269|PubMed:26545797}.
uniprot
proteins