HSD3B7
entrez
80270
canonical
uniprot
Q9H2F3
canonical
ensembl
ENSG00000099377
resolver
ensp
ENSP00000262520
resolver
ensp
ENSP00000297679
resolver
ensp
ENSP00000537959
resolver
ensp
ENSP00000537960
resolver
ensp
ENSP00000537962
resolver
ensp
ENSP00000537965
resolver
ensp
ENSP00000649534
resolver
ensp
ENSP00000649535
resolver
ensp
ENSP00000649537
resolver
genesymbol
HSD3B7
resolver
hgnc
HGNC:18324
resolver
uniprot
Q96M28
resolver
uniprot
Q9BSN9
resolver
uniprot_entry
3BHS7_HUMAN
resolver
uniprot_sec
Q96M28
resolver
uniprot_sec
Q9BSN9
resolver
amino_acid_sequence
MADSAQAQKLVYLVTGGCGFLGEHVVRMLLQREPRLGELRVFDQHLGPWLEELKTGPVRVTAIQGDVTQAHEVAAAVAGAHVVIHTAGLVDVFGRASPKTIHEVNVQGTRNVIEACVQTGTRFLVYTSSMEVVGPNTKGHPFYRGNEDTPYEAVHRHPYPCSKALAEWLVLEANGRKVRGGLPLVTCALRPTGIYGEGHQIMRDFYRQGLRLGGWLFRAIPASVEHGRVYVGNVAWMHVLAARELEQRATLMGGQVYFCYDGSPYRSYEDFNMEFLGPCGLRLVGARPLLPYWLLVFLAALNALLQWLLRPLVLYAPLLNPYTLAVANTTFTVSTDKAQRHFGYEPLFSWEDSRTRTILWVQAATGSAQ
uniprot
proteins
disease_involvement
DISEASE: Congenital bile acid synthesis defect 1 (CBAS1) [MIM:607765]: A primary defect in bile synthesis leading to progressive liver disease. Clinical features include neonatal jaundice, severe intrahepatic cholestasis, cirrhosis. {ECO:0000269|PubMed:11067870, ECO:0000269|PubMed:12679481}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
1.1.1.-
uniprot
proteins
ec_number
1.1.1.181
uniprot
proteins
function
FUNCTION: The 3-beta-HSD enzymatic system plays a crucial role in the biosynthesis of all classes of hormonal steroids. HSD VII is active against four 7-alpha-hydroxylated sterols. Does not metabolize several different C(19/21) steroids as substrates. Involved in bile acid synthesis (PubMed:11067870). Plays a key role in cell positioning and movement in lymphoid tissues by mediating degradation of 7-alpha,25-dihydroxycholesterol (7-alpha,25-OHC): 7-alpha,25-OHC acts as a ligand for the G protein-coupled receptor GPR183/EBI2, a chemotactic receptor for a number of lymphoid cells (By similarity). {ECO:0000250|UniProtKB:Q9EQC1, ECO:0000269|PubMed:11067870}.
uniprot
proteins
mass_dalton
41016
uniprot
proteins
pathway_participation
PATHWAY: Lipid metabolism; steroid biosynthesis. {ECO:0000269|PubMed:11067870}.
uniprot
proteins
protein_family
3-beta-HSD family
uniprot
proteins
pubmed
11067870
uniprot
proteins
pubmed
12679481
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15616553
uniprot
proteins
sequence_length
369
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Multi-pass membrane protein.
uniprot
proteins
transmembrane_region
TRANSMEM 289..309; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 311..331; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins