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MGP002975

Record overview

MGPD IDMGP002975
Gene ID6718
SpeciesHomo sapiens (Human)
Gene Namealdo-keto reductase family 1, member D1
Gene Symbol AKR1D1
SynonymsCBAS2; SRD5B1; 3o5bred;
Alternate names3-oxo-5-beta-steroid 4-dehydrogenase; delta 4-3-ketosteroid-5-beta-reductase; delta(4)-3-ketosteroid 5-beta-reductase; delta(4)-3-oxosteroid 5-beta-reductase; steroid-5-beta-reductase, beta polypeptide 1 (3-oxo-5 beta-steroid delta 4-dehydrogenase beta 1);
Chromosome7
Map Location7q32-q33
EC Number1.3.1.3
SummaryThe enzyme encoded by this gene is responsible for the catalysis of the 5-beta-reduction of bile acid intermediates and steroid hormones carrying a delta(4)-3-one structure. Deficiency of this enzyme may contribute to hepatic dysfunction. Three transcript variants encoding different isoforms have been found for this gene. Other variants may be present, but their full-length natures have not been determined yet. [provided by RefSeq, Jul 2010]
OrthologsView orthologs and multiple alignments for AKR1D1

Proteins

3-oxo-5-beta-steroid 4-dehydrogenase isoform 1
Refseq ID:NP_005980
Protein GI:5174695
UniProt ID:P51857
mRNA ID:NM_005989
Length:326
RefSeq Status:
MDLSAASHRIPLSDGNSIPIIGLGTYSEPKSTPKGACATSVKVAIDTGYRHIDGAYIYQNEHEVGEAIREKIAEGKVRREDIFYCGKLWATNHVPEMVRP
TLERTLRVLQLDYVDLYIIEVPMAFKPGDEIYPRDENGKWLYHKSNLCATWEAMEACKDAGLVKSLGVSNFNRRQLELILNKPGLKHKPVSNQVECHPYF
TQPKLLKFCQQHDIVITAYSPLGTSRNPIWVNVSSPPLLKDALLNSLGKRYNKTAAQIVLRFNIQRGVVVIPKSFNLERIKENFQIFDFSLTEEEMKDIE
ALNKNVRFVELLMWRDHPEYPFHDEY
 
3-oxo-5-beta-steroid 4-dehydrogenase isoform 2
Refseq ID:NP_001177835
Protein GI:300116271
UniProt ID:P51857
mRNA ID:NM_001190906
Length:285
RefSeq Status:
MDLSAASHRIPLSDGNSIPIIGLGTYSEPKSTPKGACATSVKVAIDTGYRHIDGAYIYQNEHEVGEAIREKIAEGKVRREDIFYCGKLWATNHVPEMVRP
TLERTLRVLQLDYVDLYIIEVPMAFKPGDEIYPRDENGKWLYHKSNLCATWEVECHPYFTQPKLLKFCQQHDIVITAYSPLGTSRNPIWVNVSSPPLLKD
ALLNSLGKRYNKTAAQIVLRFNIQRGVVVIPKSFNLERIKENFQIFDFSLTEEEMKDIEALNKNVRFVELLMWRDHPEYPFHDEY
 
3-oxo-5-beta-steroid 4-dehydrogenase isoform 3
Refseq ID:NP_001177836
Protein GI:300116273
UniProt ID:P51857
mRNA ID:NM_001190907
Length:290
RefSeq Status:
MDLSAASHRIPLSDGNSIPIIGLGTYSEPKSTPKGACATSVKVAIDTGYRHIDGAYIYQNEHEVGEAIREKIAEGKVRREDIFYCGKLWATNHVPEMVRP
TLERTLRVLQLDYVDLYIIEVPMAFKPGDEIYPRDENGKWLYHKSNLCATWEAMEACKDAGLVKSLGVSNFNRRQLELILNKPGLKHKPVSNQVECHPYF
TQPKLLKFCQQHDIVITAYSPLGTSRNPIWVNVSSPPLLKDALLNSLGKRYNKTAAQIVLRFNIQRGVVVIPKSFNLERIKENFQVARSS
 
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