AKR1D1
entrez
6718
canonical
uniprot
P51857
canonical
ensembl
ENSG00000122787
resolver
ensp
ENSP00000242375
resolver
ensp
ENSP00000389197
resolver
ensp
ENSP00000402374
resolver
ensp
ENSP00000555497
resolver
genesymbol
AKR1D1
resolver
genesymbol_syn
SRD5B1
resolver
hgnc
HGNC:388
resolver
uniprot
A1L4P6
resolver
uniprot
A8K060
resolver
uniprot
B4DPN3
resolver
uniprot
B4DPN8
resolver
uniprot_entry
AK1D1_HUMAN
resolver
uniprot_sec
A1L4P6
resolver
uniprot_sec
A8K060
resolver
uniprot_sec
B4DPN3
resolver
uniprot_sec
B4DPN8
resolver
activity_regulation
ACTIVITY REGULATION: Subject to inhibition by high substrate concentrations. Inhibited by testosterone concentrations above 10 uM (PubMed:18407998). Inhibited by the primary and secondary bile acids chenodeoxycholic acid and ursodeoxycholic acid (PubMed:21255593). {ECO:0000269|PubMed:18407998, ECO:0000269|PubMed:21255593}.
uniprot
proteins
amino_acid_sequence
MDLSAASHRIPLSDGNSIPIIGLGTYSEPKSTPKGACATSVKVAIDTGYRHIDGAYIYQNEHEVGEAIREKIAEGKVRREDIFYCGKLWATNHVPEMVRPTLERTLRVLQLDYVDLYIIEVPMAFKPGDEIYPRDENGKWLYHKSNLCATWEAMEACKDAGLVKSLGVSNFNRRQLELILNKPGLKHKPVSNQVECHPYFTQPKLLKFCQQHDIVITAYSPLGTSRNPIWVNVSSPPLLKDALLNSLGKRYNKTAAQIVLRFNIQRGVVVIPKSFNLERIKENFQIFDFSLTEEEMKDIEALNKNVRFVELLMWRDHPEYPFHDEY
uniprot
proteins
disease_involvement
DISEASE: Congenital bile acid synthesis defect 2 (CBAS2) [MIM:235555]: A condition characterized by jaundice, intrahepatic cholestasis and hepatic failure. Patients with this liver disease show absence or low levels of chenodeoxycholic acid and cholic acid in plasma and urine. {ECO:0000269|PubMed:12970144, ECO:0000269|PubMed:15030995, ECO:0000269|PubMed:19175828, ECO:0000269|PubMed:20522910}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
1.3.1.3
uniprot
proteins
function
FUNCTION: Catalyzes the stereospecific NADPH-dependent reduction of the C4-C5 double bond of bile acid intermediates and steroid hormones carrying a delta(4)-3-one structure to yield an A/B cis-ring junction. This cis-configuration is crucial for bile acid biosynthesis and plays important roles in steroid metabolism. Capable of reducing a broad range of delta-(4)-3-ketosteroids from C18 (such as, 17beta-hydroxyestr-4-en-3-one) to C27 (such as, 7alpha-hydroxycholest-4-en-3-one). {ECO:0000269|PubMed:11342103, ECO:0000269|PubMed:18407998, ECO:0000269|PubMed:20522910, ECO:0000269|PubMed:21255593, ECO:0000269|PubMed:7508385}.
uniprot
proteins
mass_dalton
37377
uniprot
proteins
mutagenesis
MUTAGEN 58; /note="Y->A: Loss of activity."; /evidence="ECO:0000269|PubMed:18407998"; MUTAGEN 120; /note="E->A: Loss of activity."; /evidence="ECO:0000269|PubMed:18407998
uniprot
proteins
protein_family
Aldo/keto reductase family
uniprot
proteins
pubmed
11342103
uniprot
proteins
pubmed
12690205
uniprot
proteins
pubmed
12853948
uniprot
proteins
pubmed
12970144
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15030995
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
18407998
uniprot
proteins
pubmed
18624455
uniprot
proteins
pubmed
18848863
uniprot
proteins
pubmed
19075558
uniprot
proteins
pubmed
19175828
uniprot
proteins
pubmed
19515843
uniprot
proteins
pubmed
20522910
uniprot
proteins
pubmed
21255593
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22437839
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
7508385
uniprot
proteins
sequence_length
326
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:7508385}.
uniprot
proteins