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CYP27B1 (cytochrome P450, family 27, subfamily B, polypeptide 1)

Identity

Other namesCP2B
CYP1
CYP1alpha
CYP27B
P450c1
PDDR
VDD1
VDDR
VDDRI
VDR
HGNC (Hugo) CYP27B1
LocusID (NCBI) 1594
Location 12q14.1
Location_base_pair Starts at 58156117 and ends at 58160976 bp from pter ( according to hg19-Feb_2009)
Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

External links

Nomenclature
HGNC (Hugo)CYP27B1   2606
Cards
Entrez_Gene (NCBI)CYP27B1  1594  cytochrome P450, family 27, subfamily B, polypeptide 1
GeneCards (Weizmann)CYP27B1
Ensembl (Hinxton)ENSG00000111012 [Gene_View]  chr12:58156117-58160976 [Contig_View]  CYP27B1 [Vega]
ICGC DataPortalENSG00000111012
cBioPortalCYP27B1
AceView (NCBI)CYP27B1
Genatlas (Paris)CYP27B1
WikiGenes1594
SOURCE (Princeton)NM_000785
Genomic and cartography
GoldenPath (UCSC)CYP27B1  -  12q14.1   chr12:58156117-58160976 -  12q14.1   [Description]    (hg19-Feb_2009)
EnsemblCYP27B1 - 12q14.1 [CytoView]
Mapping of homologs : NCBICYP27B1 [Mapview]
OMIM264700   609506   
Gene and transcription
Genbank (Entrez)AB005038 AB005989 AF020192 AF246895 AK314953
RefSeq transcript (Entrez)NM_000785
RefSeq genomic (Entrez)AC_000144 NC_000012 NC_018923 NG_007076 NT_029419 NW_001838060 NW_004929384
Consensus coding sequences : CCDS (NCBI)CYP27B1
Cluster EST : UnigeneHs.524528 [ NCBI ]
CGAP (NCI)Hs.524528
Alternative Splicing : Fast-db (Paris)GSHG0007578
Alternative Splicing GalleryENSG00000111012
Gene ExpressionCYP27B1 [ NCBI-GEO ]     CYP27B1 [ SEEK ]   CYP27B1 [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO15528 (Uniprot)
NextProtO15528  [Medical]
With graphics : InterProO15528
Splice isoforms : SwissVarO15528 (Swissvar)
Catalytic activity : Enzyme1.14.13.13 [ Enzyme-Expasy ]   1.14.13.131.14.13.13 [ IntEnz-EBI ]   1.14.13.13 [ BRENDA ]   1.14.13.13 [ KEGG ]   
Domaine pattern : Prosite (Expaxy)CYTOCHROME_P450 (PS00086)   
Domains : Interpro (EBI)Cyt_P450 [organisation]   Cyt_P450_CS [organisation]   Cyt_P450_E_grp-I [organisation]  
Related proteins : CluSTrO15528
Domain families : Pfam (Sanger)p450 (PF00067)   
Domain families : Pfam (NCBI)pfam00067   
DMDM Disease mutations1594
Blocks (Seattle)O15528
Human Protein AtlasENSG00000111012 [gene] [tissue] [antibody] [cell] [cancer]
Peptide AtlasO15528
HPRD02031
IPIIPI00007313   IPI01021227   
Protein Interaction databases
DIP (DOE-UCLA)O15528
IntAct (EBI)O15528
FunCoupENSG00000111012
BioGRIDCYP27B1
InParanoidO15528
Interologous Interaction database O15528
IntegromeDBCYP27B1
STRING (EMBL)CYP27B1
Ontologies - Pathways
Ontology : AmiGOcalcidiol 1-monooxygenase activity  iron ion binding  cytoplasm  mitochondrion  mitochondrion  mitochondrial outer membrane  vitamin metabolic process  xenobiotic metabolic process  calcium ion transport  steroid metabolic process  negative regulation of cell proliferation  negative regulation of calcidiol 1-monooxygenase activity  positive regulation of vitamin D 24-hydroxylase activity  heme binding  bone mineralization  negative regulation of cell growth  regulation of bone mineralization  response to lipopolysaccharide  response to vitamin D  response to interferon-gamma  calcitriol biosynthetic process from calciol  vitamin D metabolic process  vitamin D metabolic process  vitamin D catabolic process  response to estrogen  small molecule metabolic process  positive regulation of keratinocyte differentiation  decidualization  calcium ion homeostasis  oxidation-reduction process  G1 to G0 transition  positive regulation of vitamin D receptor signaling pathway  
Ontology : EGO-EBIcalcidiol 1-monooxygenase activity  iron ion binding  cytoplasm  mitochondrion  mitochondrion  mitochondrial outer membrane  vitamin metabolic process  xenobiotic metabolic process  calcium ion transport  steroid metabolic process  negative regulation of cell proliferation  negative regulation of calcidiol 1-monooxygenase activity  positive regulation of vitamin D 24-hydroxylase activity  heme binding  bone mineralization  negative regulation of cell growth  regulation of bone mineralization  response to lipopolysaccharide  response to vitamin D  response to interferon-gamma  calcitriol biosynthetic process from calciol  vitamin D metabolic process  vitamin D metabolic process  vitamin D catabolic process  response to estrogen  small molecule metabolic process  positive regulation of keratinocyte differentiation  decidualization  calcium ion homeostasis  oxidation-reduction process  G1 to G0 transition  positive regulation of vitamin D receptor signaling pathway  
Pathways : BIOCARTANuclear Receptors in Lipid Metabolism and Toxicity [Genes]   
Pathways : KEGGSteroid biosynthesis    Tuberculosis   
Protein Interaction DatabaseCYP27B1
Wikipedia pathwaysCYP27B1
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)CYP27B1
snp3D : Map Gene to Disease1594
SNP (GeneSNP Utah)CYP27B1
SNP : HGBaseCYP27B1
Genetic variants : HAPMAPCYP27B1
Exome VariantCYP27B1
1000_GenomesCYP27B1 
ICGC programENSG00000111012 
Somatic Mutations in Cancer : COSMICCYP27B1 
CONAN: Copy Number AnalysisCYP27B1 
Mutations and Diseases : HGMDCYP27B1
Mutations and Diseases : intOGenCYP27B1
Genomic VariantsCYP27B1  CYP27B1 [DGVbeta]
dbVarCYP27B1
ClinVarCYP27B1
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM264700    609506   
MedgenCYP27B1
GENETestsCYP27B1
Disease Genetic AssociationCYP27B1
Huge Navigator CYP27B1 [HugePedia]  CYP27B1 [HugeCancerGEM]
General knowledge
Homologs : HomoloGeneCYP27B1
Homology/Alignments : Family Browser (UCSC)CYP27B1
Phylogenetic Trees/Animal Genes : TreeFamCYP27B1
Chemical/Protein Interactions : CTD1594
Chemical/Pharm GKB GenePA27099
Clinical trialCYP27B1
Cancer Resource (Charite)ENSG00000111012
Other databases
Probes
Litterature
PubMed140 Pubmed reference(s) in Entrez
CoreMineCYP27B1
iHOPCYP27B1
OncoSearchCYP27B1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Sep 22 18:47:01 CEST 2014

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