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FLASH GENE
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
    EC.number 1.3.1.3
    DNA
    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
    RNA
    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
    EXPRESSION
    Type restricted
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver   highly
    Visualeye    
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • molybdopterin binding domain
  • a (alpha/beta)-barrel structure with three large loops (A, B, and C) at the back of the barrel
    • HOMOLOGY
    Homologene
    FAMILY
  • aldo/keto reductase family
  • superfamily of monomeric NADPH-dependent carbonyl oxidoreductases
    • CATEGORY enzyme , transport
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    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
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS digestion , electron transport
    PATHWAY
    metabolism lipid/lipoprotein , organic acid
    signaling
    lipid, fatty acid and sterol metabolism; bile acid metabolism (biosynthesis)
    a component
    INTERACTION
    DNA
    RNA
    small molecule cofactor, nucleotide,
  • NADP
    • protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    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
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS