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Symbol AKR1D1 contributors: mct - updated : 16-10-2018
HGNC name aldo-keto reductase family 1, member D1 (delta 4-3-ketosteroid-5-beta-reductase)
HGNC id 388
Corresponding disease
CBAS2 cholestasis with delta(4)-3-3oxosteroid 5 beta-reductase deficiency
Location 7q33      Physical location : 137.761.177 - 137.803.050
Synonym name
  • steroid 5-beta-reductase
  • steroid-5-beta-reductase, beta polypeptide 1 (3-oxo-5 beta-steroid delta 4-dehydrogenase beta 1
  • Synonym symbol(s) SRD5B1, 305bred, CBAS2
    TYPE functioning gene
    STRUCTURE 41.87 kb     9 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Physical map
    NUP205 7q33 nucleoporin 205kDa LOC136321 7q33 similar to 60S ribosomal protein L15 SLC13A4 7q33 solute carrier family 13 (sodium/sulfate symporters), member 4 LOC389558 7 similar to HWKM1940 MTPN 7q33-q35 myotrophin LOC392100 7 similar to protease (prosome, macropain) 26S subunit, ATPase 1 LOC389559 7 LOC389559 CHRM2 7q31-q35 cholinergic receptor, muscarinic 2 LOC389560 7 LOC389560 PTN 7q33-q34 pleiotrophin (heparin binding growth factor 8, neurite growth-promoting factor 1) DGKI 7q32.3-q33 diacylglycerol kinase, iota CREB3L2 7q33-q34 cAMP responsive element binding protein 3-like 2 AKR1D1 7q32-q33 aldo-keto reductase family 1, member D1 (delta 4-3-ketosteroid-5-beta-reductase) LOC392101 7 similar to dJ753D5.2 (novel protein similar to RPS17 (40S ribosomal protein S17)) LOC392102 7 similar to prothymosin, alpha (gene sequence 28) LOC136307 7q34 similar to inosine monophosphate dehydrogenase 1 isoform b; sWSS2608 TIF1 7q32-q34 transcriptional intermediary factor 1 LOC136306 7q34 hypothetical protein LOC136306 LOC392103 7 similar to 60S ribosomal protein L17 (L23) LOC202789 7q34 similar to Ubiquinol-cytochrome C reductase iron-sulfur subunit, mitochondrial precursor (Rieske iron-sulfur protein) (RISP) ATP6V0A4 7q33-q34 ATPase, H+ transporting, lysosomal V0 subunit a isoform 4 KIAA1549 7q34 KIAA1549 protein MGC14289 7q34 similar to RIKEN cDNA 1200014N16 gene ZC3HAV1 7q34 zinc finger CCCH type, antiviral 1 FLJ12571 7q34 hypothetical protein FLJ12571 LOC389561 7 similar to 60S ribosomal protein L37a FLJ25778 7q34 hypothetical protein FLJ25778 HSPC268 7q34 hypothetical protein HSPC268 LUC7L2 7q34 LUC7-like 2 (S. cerevisiae) FLJ44186 7q34 FLJ44186 protein LOC392104 7 similar to heat shock 70kD protein binding protein; progesterone receptor-associated p48 protein; putative tumor suppressor ST13; Hsp70-interacting protein HIPK2 7q32-q34 homeodomain interacting protein kinase 2 LOC389562 7 LOC389562 TBXAS1 7q34-q35 thromboxane A synthase 1 (platelet, cytochrome P450, family 5, subfamily A) ZC3HDC1 7q34 zinc finger CCCH type domain containing 1 SLC37A3 7q34 solute carrier family 37 (glycerol-3-phosphate transporter), member 3 LOC389563 7 similar to RAB19, member RAS oncogene family LOC392105 7 similar to Nucleoside diphosphate kinase, mitochondrial precursor (NDP kinase, mitochondrial) (NDK) (nm23-M4) (Nucleoside diphosphate kinase D) MKRN1 7q34 makorin, ring finger protein, 1 KIAA1277 7q34 KIAA1277
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    9 - 2710 - 326 - 2001 11342103
    8 - 2587 - 285 highly in the colon and liver 2001 11342103
    8 - 2627 - 290 testis 2001 11342103
    Type restricted
    constitutive of
       expressed in (based on citations)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver   highly
    cell lineage
    cell lines
    at STAGE
  • molybdopterin binding domain
  • a (alpha/beta)-barrel structure with three large loops (A, B, and C) at the back of the barrel
  • aldo/keto reductase family
  • superfamily of monomeric NADPH-dependent carbonyl oxidoreductases
  • CATEGORY enzyme , transport
    SUBCELLULAR LOCALIZATION     intracellular
    basic FUNCTION
  • aldo-ketoreductase, catalyzing the reduction of the delta 4 double bond of bile acid intermediates and steroid hormones with the delta 4-3 one structure in the A/B cis configuration (inactivation of active androgens)
  • involved in the catalysis of the 5-beta-reduction of bile acid intermediates and steroid hormones carrying a delta(4)-3-one structure
  • catalyzes reduction of Delta(4)-ene double bonds in steroid hormones and bile acid precursors
  • AKR1C4, AKR1D1 participate in the biosynthesis of bile acids by catalyzing the NADP(H) dependent reduction of 3-keto groups
  • reduces CC double bonds instead of carbonyl groups, having a Glu substituted for His
    PHYSIOLOGICAL PROCESS digestion , electron transport
    metabolism lipid/lipoprotein , organic acid
    lipid, fatty acid and sterol metabolism; bile acid metabolism (biosynthesis)
    a component
    small molecule cofactor, nucleotide,
  • NADP
  • protein
    cell & other
    corresponding disease(s) CBAS2
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    in hepatic dysfunction
    constitutional germinal mutation      
    are causative in bile-acid deficiency
    Variant & Polymorphism
    Candidate gene
    Therapy target