Atlas of Genetics and Cytogenetics in Oncology and Haematology


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CYP27B1 (cytochrome P450 family 27 subfamily B member 1)

Identity

Other namesCP2B
CYP1
CYP1alpha
CYP27B
P450c1
PDDR
VDD1
VDDR
VDDRI
VDR
HGNC (Hugo) CYP27B1
LocusID (NCBI) 1594
Atlas_Id 46401
Location 12q14.1
Location_base_pair Starts at 58156117 and ends at 58160976 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
ZNF175 (19q13.41) / CYP27B1 (12q14.1)ZNF175 19q13.41 / CYP27B1 12q14.1

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 member 1
AliasesCP2B; CYP1; CYP1alpha; CYP27B; 
P450c1; PDDR; VDD1; VDDR; VDDRI; VDR
GeneCards (Weizmann)CYP27B1
Ensembl hg19 (Hinxton)ENSG00000111012 [Gene_View]  chr12:58156117-58160976 [Contig_View]  CYP27B1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000111012 [Gene_View]  chr12:58156117-58160976 [Contig_View]  CYP27B1 [Vega]
ICGC DataPortalENSG00000111012
TCGA cBioPortalCYP27B1
AceView (NCBI)CYP27B1
Genatlas (Paris)CYP27B1
WikiGenes1594
SOURCE (Princeton)CYP27B1
Genomic and cartography
GoldenPath hg19 (UCSC)CYP27B1  -     chr12:58156117-58160976 -  12q14.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)CYP27B1  -     12q14.1   [Description]    (hg38-Dec_2013)
EnsemblCYP27B1 - 12q14.1 [CytoView hg19]  CYP27B1 - 12q14.1 [CytoView hg38]
Mapping of homologs : NCBICYP27B1 [Mapview hg19]  CYP27B1 [Mapview hg38]
OMIM264700   609506   
Gene and transcription
Genbank (Entrez)AB005038 AB005989 AF020192 AF246895 AK314953
RefSeq transcript (Entrez)NM_000785
RefSeq genomic (Entrez)NC_000012 NC_018923 NG_007076 NT_029419 NW_004929384
Consensus coding sequences : CCDS (NCBI)CYP27B1
Cluster EST : UnigeneHs.524528 [ NCBI ]
CGAP (NCI)Hs.524528
Alternative Splicing GalleryENSG00000111012
Gene ExpressionCYP27B1 [ NCBI-GEO ]   CYP27B1 [ EBI - ARRAY_EXPRESS ]   CYP27B1 [ SEEK ]   CYP27B1 [ MEM ]
Gene Expression Viewer (FireBrowse)CYP27B1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1594
GTEX Portal (Tissue expression)CYP27B1
Protein : pattern, domain, 3D structure
UniProt/SwissProtO15528 (Uniprot)
NextProtO15528  [Sequence]  [Exons]  [Medical]  [Publications]
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 ]   
PhosPhoSitePlusO15528
Domaine pattern : Prosite (Expaxy)CYTOCHROME_P450 (PS00086)   
Domains : Interpro (EBI)Cyt_P450    Cyt_P450_CS    Cyt_P450_E_grp-I   
Domain families : Pfam (Sanger)p450 (PF00067)   
Domain families : Pfam (NCBI)pfam00067   
DMDM Disease mutations1594
Blocks (Seattle)CYP27B1
SuperfamilyO15528
Human Protein AtlasENSG00000111012
Peptide AtlasO15528
HPRD02031
IPIIPI00007313   IPI01021227   
Protein Interaction databases
DIP (DOE-UCLA)O15528
IntAct (EBI)O15528
FunCoupENSG00000111012
BioGRIDCYP27B1
STRING (EMBL)CYP27B1
ZODIACCYP27B1
Ontologies - Pathways
QuickGOO15528
Ontology : AmiGOcalcidiol 1-monooxygenase activity  calcidiol 1-monooxygenase activity  iron ion binding  cytoplasm  mitochondrion  mitochondrion  mitochondrial outer membrane  vitamin metabolic process  calcium ion transport  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  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  calcidiol 1-monooxygenase activity  iron ion binding  cytoplasm  mitochondrion  mitochondrion  mitochondrial outer membrane  vitamin metabolic process  calcium ion transport  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  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   
NDEx Network
Atlas of Cancer Signalling NetworkCYP27B1
Wikipedia pathwaysCYP27B1
Orthology - Evolution
OrthoDB1594
GeneTree (enSembl)ENSG00000111012
Phylogenetic Trees/Animal Genes : TreeFamCYP27B1
Homologs : HomoloGeneCYP27B1
Homology/Alignments : Family Browser (UCSC)CYP27B1
Gene fusions - Rearrangements
Fusion: TCGAZNF175 19q13.41 CYP27B1 12q14.1 LGG
Polymorphisms : SNP, variants
NCBI Variation ViewerCYP27B1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CYP27B1
dbVarCYP27B1
ClinVarCYP27B1
1000_GenomesCYP27B1 
Exome Variant ServerCYP27B1
ExAC (Exome Aggregation Consortium)CYP27B1 (select the gene name)
Genetic variants : HAPMAP1594
Genomic Variants (DGV)CYP27B1 [DGVbeta]
Mutations
ICGC Data PortalCYP27B1 
TCGA Data PortalCYP27B1 
Broad Tumor PortalCYP27B1
OASIS PortalCYP27B1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCYP27B1 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch CYP27B1
DgiDB (Drug Gene Interaction Database)CYP27B1
DoCM (Curated mutations)CYP27B1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CYP27B1 (select a term)
intoGenCYP27B1
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)12:58156117-58160976  ENSG00000111012
CONAN: Copy Number AnalysisCYP27B1 
Mutations and Diseases : HGMDCYP27B1
OMIM264700    609506   
MedgenCYP27B1
Genetic Testing Registry CYP27B1
NextProtO15528 [Medical]
TSGene1594
GENETestsCYP27B1
Huge Navigator CYP27B1 [HugePedia]
snp3D : Map Gene to Disease1594
BioCentury BCIQCYP27B1
ClinGenCYP27B1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD1594
Chemical/Pharm GKB GenePA27099
Clinical trialCYP27B1
Miscellaneous
canSAR (ICR)CYP27B1 (select the gene name)
Probes
Litterature
PubMed154 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCYP27B1
EVEXCYP27B1
GoPubMedCYP27B1
iHOPCYP27B1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Sat May 28 10:59:37 CEST 2016

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