RBCC Red Blood Cell Collection

AK1D1_HUMAN

Source: PM23856902
Marked as 'Non-membrane protein'
Confidence: low (only semi-automatic identification from reviews) Search PubMed for
(RBC AND this entry)
Gene names: AKR1D1 , SRD5B1
Protein names and data: AK1D1_HUMAN , 3-oxo-5-beta-steroid 4-dehydrogenase; 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 Lenght: 326 a.a.
Mass: 37377 Da
fasta formatted sequence
Function: 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.
Catalytic activity: 5-beta-cholestan-3-one + NADP(+) = cholest-4- en-3-one + NADPH. 17,21-dihydroxy-5-beta-pregnane-3,11,20-trione + NADP(+) = cortisone.
Disease: ( OMIM: 235555 604741 ) 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. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location: Cytoplasm.
Tissue specificity: Highly expressed in liver. Expressed in testis and weakly in colon.

Genetic variants

106 - 106 L -> F (in CBAS2). VAR_033007
133 - 133 P -> R (in CBAS2). VAR_044430
198 - 198 P -> L (in CBAS2). VAR_033008
261 - 261 R -> C (in CBAS2). VAR_044431

Database cross-references

UniProt: P51857
Ensembl: ENST00000242375
Ensembl: ENST00000411726
Ensembl: ENST00000432161
MIM: 235555
MIM: 604741
neXtProt: NX_P51857
Antibodypedia: P51857 (may not find the protein thus also not any antibody)
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