InnateDB Protein
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IDBP-386668.5
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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AKR1D1
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Protein Name
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aldo-keto reductase family 1, member D1 (delta 4-3-ketosteroid-5-beta-reductase)
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Synonyms
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3o5bred; CBAS2; SRD5B1;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000389197
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InnateDB Gene
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IDBG-43140 (AKR1D1)
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Protein Structure
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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.
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Subcellular Localization |
Cytoplasm.
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Disease Associations |
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:0000269PubMed:12970144, ECO:0000269PubMed:15030995}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
Highly expressed in liver. Expressed in testis and weakly in colon. {ECO:0000269PubMed:11342103}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
1
[view]
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Protein-Protein |
0
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Protein-DNA |
1
[view]
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
Accession |
GO Term |
GO:0005496
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steroid binding
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GO:0047787
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delta4-3-oxosteroid 5beta-reductase activity
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR020471
Aldo/keto reductase subgroup
IPR023210
NADP-dependent oxidoreductase domain
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PFAM |
PF00248
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PRINTS |
PR00069
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PIRSF |
PIRSF000097
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
P51857
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PhosphoSite |
PhosphoSite-P51857
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TrEMBL |
C4PL35
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UniProt Splice Variant |
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Entrez Gene |
6718
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UniGene |
Hs.201667
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RefSeq |
NP_001177836
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HUGO |
HGNC:388
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OMIM |
604741
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CCDS |
CCDS55169
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HPRD |
07263
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IMGT |
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EMBL |
AC009263
AC024082
AC083867
AF283651
AF283652
AF283653
AF283654
AF283655
AF283656
AF283657
AF283658
AF283659
AK289425
AK298421
AK298428
BC130625
BC130627
CH236950
CH471070
FM160741
Z28339
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GenPept |
AAG39381
AAI30626
AAI30628
BAF82114
BAG60645
BAG60650
CAA82193
CAQ55951
EAL24049
EAW83881
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