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FLASH GENE
Symbol CYP27B1 contributors: mct/npt - updated : 27-06-2009
HGNC name cytochrome P450, family 27, subfamily B, polypeptide 1
HGNC id 2606
Corresponding disease
PDDR pseudo-vitamin D deficiency rickets, type I
Location 12q14.1      Physical location : 58.156.116 - 58.160.976
Synonym name
  • cytochrome P450, family 27, subfamily B, polypeptide 1
  • 25 hydroxyvitamin D3-1 alpha-hydroxylase
  • cytochrome P450, subfamily XXVIIB (25-hydroxyvitamin D-1-alpha-hydroxylase), polypeptide 1
  • VD3 1A hydroxylase
  • 25-OHD-1 alpha-hydroxylase
  • pseudo-vitamin D dependency rickets 1
  • Synonym symbol(s) CYP25D1A, VDR, CYP1, VDD1, P450C1, VDDRI, CYP27B, CP2B
    EC.number 1.14.13.13
    DNA
    TYPE functioning gene
    STRUCTURE 4.00 kb     9 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Physical map
    INHBC 12q13.1 inhibin, beta C INHBE 12q13.2 inhibin, beta E GLI 12q13.3-q14.1 glioma-associated oncogene homolog (zinc finger protein) ARHGAP9 12q14 Rho GTPase activating protein 9 MARS 12q13.11-q14.3 methionine-tRNA synthetase DDIT3 12q13.1-q13.2 DNA-damage-inducible transcript 3 MBD6 12q13.2 methyl-CpG binding domain protein 6 DCTN2 12q13.2-q13.3 dynactin 2 (p50) KIF5A 12q13 kinesin family member 5A PIP5K2C 12q13.2 phosphatidylinositol-4-phosphate 5-kinase, type II, gamma FLJ34766 GEFT 12q13.2 RAC/CDC42 exchange factor SLC26A10 12q13 solute carrier family 26, member 10 GALGT 12q13.3 UDP-N-acetyl-alpha-D-galactosamine:(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase (GalNAc-T) LOC390333 12 similar to ribosomal protein L13a; 60S ribosomal protein L13a; 23 kD highly basic protein OS-9 12q13 amplified in osteosarcoma CENTG1 12q13.3 centaurin, gamma 1 SAS 12q13-q14 sarcoma amplified sequence CDK4 12q14 cyclin-dependent kinase 4 LOC92979 12q13.2 hypothetical protein BC009489 CYP27B1 12q13-q14 cytochrome P450, family 27, subfamily B, polypeptide 1 METTL1 12q13 methyltransferase-like 1 DKFZP586D0919 12q13.2 hepatocellularcarcinoma-associated antigen HCA557a TSFM 12q13-q14 Ts translation elongation factor, mitochondrial AVIL 12q13.13 advillin CTDSP2 12q13-q15 . CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2 KUB3 12q13.2 Ku70-binding protein 3 LOC338805 12q13.2 similar to heat shock 70kD protein binding protein; progesterone receptor-associated p48 protein; putative tumor suppressor ST13; Hsp70-interacting protein
    RNA
    TRANSCRIPTS type messenger
    text noncoding splice variants of CYP27b1 are functionally active and may play a significant role in the regulation of 1, 25(OH)2D3 synthesis during normal physiology (Wu 2007)
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    9 - 2503 - 508 - Takeyama (1997)
    EXPRESSION
    Type widely
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Urinarykidneytubuleconvoluted tubuleproximal tubulehighly
    Visualeye   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialbarrier/lining   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    skin tegumenthair follicle
    Urinaryepithelial cell
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period pregnancy
    Text placenta
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    conjugated HemoP
    mono polymer monomer
    HOMOLOGY
    interspecies homolog to murine Cyp40
    Homologene
    FAMILY
  • cytochrome P450 subfamily XXVIIB
  • multigenic cytochrome P450 superfamily of mixed-function monooxygenases
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,inner
    basic FUNCTION
  • plays a pivotal role in vitamin D physiology by catalyzing synthesis of active 1,25-dihydroxyvitamin D3 [1,25(OH)2D3] (Wu 2007)
  • putative intracrine modulator of vitamin D function in peripheral tissues
  • acting predominantly on endochondral bone formation
  • during pregnancy, calcitriol, the active metabolite of vitamin D, is metabolized by decidua and placental tissue by means of CYP27B1 and CYP24A1 for synthesis and inactivation of calcitriol respectively(PMIDC:
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS development , electron transport , detoxification
    text
  • involved in normal bone growth, tissue differentiation and calcium homeostasis, oxidative metabolism
  • PATHWAY
    metabolism drug , lipid/lipoprotein , vitamin
    signaling
    vitamin biosynthesis
    a component
    INTERACTION
    DNA
    RNA
    small molecule cofactor, nucleotide,
  • NADPH, heme
  • protein
  • flavoprotein P450 oxidoreductase (POR)
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) PDDR
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in renal cell carcinoma
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
    targeted ablation induces skeletal, reproductive, immune dysfunction