HSD3B1

GPTKB entity

Statements (27)
Predicate Object
gptkbp:instanceOf gptkb:gene
gptkbp:alias 3-beta-HSD I
3β-HSD1
3β-hydroxysteroid dehydrogenase type I
gptkbp:associatedWith prostate cancer
congenital adrenal hyperplasia
gptkbp:encodes 3β-hydroxysteroid dehydrogenase type I
gptkbp:Entrez_Gene_ID 3283
ENSG00000110448
gptkbp:expressedIn gptkb:adrenal_gland
gptkb:placenta
gptkb:testis
gptkbp:fullName hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1
gptkbp:function catalyzes conversion of pregnenolone to progesterone
involved in biosynthesis of all classes of hormonal steroids
gptkbp:HGNC_ID 5207
https://www.w3.org/2000/01/rdf-schema#label HSD3B1
gptkbp:locatedOnChromosome 1
1p12
gptkbp:mutationAssociatedWith associated with altered steroidogenesis
gptkbp:OMIM 109715
gptkbp:organism gptkb:Homo_sapiens
gptkbp:orthologInMouse Hsd3b1
gptkbp:UniProtID P14060
gptkbp:bfsParent gptkb:3β-HSD
gptkb:3β-hydroxysteroid_dehydrogenase
gptkbp:bfsLayer 8