catalog number :
MBS953236
products type :
Recombinant Protein
products full name :
Recombinant Human 3-oxo-5-beta-steroid 4-dehydrogenase (AKR1D1)
products short name :
3-oxo-5-beta-steroid 4-dehydrogenase (AKR1D1)
products name syn :
3-oxo-5-beta-steroid 4-dehydrogenase; EC=1.3.1.3; Aldo-keto reductase family 1 member D1; Delta(4)-3-ketosteroid 5-beta-reductase; Delta(4)-3-oxosteroid 5-beta-reductase
other names :
3-oxo-5-beta-steroid 4-dehydrogenase isoform 2; 3-oxo-5-beta-steroid 4-dehydrogenase; 3-oxo-5-beta-steroid 4-dehydrogenase; delta 4-3-ketosteroid-5-beta-reductase; delta(4)-3-oxosteroid 5-beta-reductase; delta(4)-3-ketosteroid 5-beta-reductase; steroid-5-beta-reductase, beta polypeptide 1 (3-oxo-5 beta-steroid delta 4-dehydrogenase beta 1); aldo-keto reductase family 1, member D1; Aldo-keto reductase family 1 member D1; Delta(4)-3-ketosteroid 5-beta-reductase; Delta(4)-3-oxosteroid 5-beta-reductase
products gene name :
AKR1D1
products gene name syn :
AKR1D1; SRD5B1
other gene names :
AKR1D1; AKR1D1; CBAS2; SRD5B1; 3o5bred; SRD5B1
uniprot entry name :
AK1D1_HUMAN
host :
E Coli or Yeast or Baculovirus or Mammalian Cell
sequence positions :
1-326
sequence :
MDLSAASHRI PLSDGNSIPI IGLGTYSEPK STPKGACATS VKVAIDTGYR HIDGAYIYQN EHEVGEAIRE KIAEGKVRRE DIFYCGKLWA TNHVPEMVRP TLERTLRVLQ LDYVDLYIIE VPMAFKPGDE IYPRDENGKW LYHKSNLCAT WEAMEACKDA GLVKSLGVSN FNRRQLELIL NKPGLKHKPV SNQVECHPYF TQPKLLKFCQ QHDIVITAYS PLGTSRNPIW VNVSSPPLLK DALLNSLGKR YNKTAAQIVL RFNIQRGVVV IPKSFNLERI KENFQIFDFS LTEEEMKDIE ALNKNVRFVE LLMWRDHPEY PFHDEY
form :
Liquid containing glycerol; lyophilization may be available upon request.
storage stability :
Store at -20 degrees C. For long-term storage, store at -20 degrees C or -80 degrees C. Store working aliquots at 4 degrees C for up to one week. Repeated freezing and thawing is not recommended.
other info1 :
Species: Homo sapiens (Human)
ncbi acc num :
NP_001177835.1
ncbi gb acc num :
NM_001190906.1
ncbi mol weight :
32,890 Da
ncbi pathways :
Bile Acid And Bile Salt Metabolism Pathway (106144); Bile Acid Biosynthesis, Cholesterol = Cholate/chenodeoxycholate Pathway (413432); Bile Acid Biosynthesis, Cholesterol = Cholate/chenodeoxycholate Pathway (468297); Metabolic Pathways (132956); Metabolism Pathway (477135); Metabolism Of Lipids And Lipoproteins Pathway (160976); Primary Bile Acid Biosynthesis Pathway (82938); Primary Bile Acid Biosynthesis Pathway (299); Steroid Hormone Biosynthesis Pathway (82940); Steroid Hormone Biosynthesis Pathway (301)
ncbi summary :
The 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]
uniprot summary :
AKR1D1: Efficiently catalyzes the reduction of progesterone, androstenedione, 17-alpha-hydroxyprogesterone and testosterone to 5-beta-reduced metabolites. The bile acid intermediates 7- alpha,12-alpha-dihydroxy-4-cholesten-3-one and 7-alpha-hydroxy-4- cholesten-3-one can also act as substrates. Defects in AKR1D1 are the cause of congenital bile acid synthesis defect type 2 (CBAS2); also known as cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency. Patients with this liver disease show absence or low levels of chenodeoxycholic acid and cholic acid in plasma and urine. Belongs to the aldo/keto reductase family. 3 isoforms of the human protein are produced by alternative splicing. Protein type: Lipid Metabolism - C21-steroid hormone; Lipid Metabolism - androgen and estrogen; EC 1.3.1.3; Oxidoreductase; Lipid Metabolism - primary bile acid biosynthesis. Chromosomal Location of Human Ortholog: 7q32-q33. Cellular Component: cytosol. Molecular Function: delta4-3-oxosteroid 5beta-reductase activity; steroid binding. Biological Process: bile acid biosynthetic process; bile acid metabolic process; bile acid catabolic process; androgen metabolic process; digestion; C21-steroid hormone metabolic process; cholesterol catabolic process. Disease: Bile Acid Synthesis Defect, Congenital, 2
size2 :
0.05 mg (Baculovirus)
size4 :
0.05 mg (Mammalian-Cell)