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CYP27A1 (cytochrome P450 family 27 subfamily A member 1)

Identity

Other namesCP27
CTX
CYP27
HGNC (Hugo) CYP27A1
LocusID (NCBI) 1593
Atlas_Id 50913
Location 2q35
Location_base_pair Starts at 219646472 and ends at 219680016 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
CHMP3 (2p11.2) / CYP27A1 (2q35)CYP27A1 (2q35) / CYP27A1 (2q35)LOC100507412 (-) / CYP27A1 (2q35)
SNAPC4 (9q34.3) / CYP27A1 (2q35)

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)CYP27A1   2605
Cards
Entrez_Gene (NCBI)CYP27A1  1593  cytochrome P450 family 27 subfamily A member 1
AliasesCP27; CTX; CYP27
GeneCards (Weizmann)CYP27A1
Ensembl hg19 (Hinxton)ENSG00000135929 [Gene_View]  chr2:219646472-219680016 [Contig_View]  CYP27A1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000135929 [Gene_View]  chr2:219646472-219680016 [Contig_View]  CYP27A1 [Vega]
ICGC DataPortalENSG00000135929
TCGA cBioPortalCYP27A1
AceView (NCBI)CYP27A1
Genatlas (Paris)CYP27A1
WikiGenes1593
SOURCE (Princeton)CYP27A1
Genomic and cartography
GoldenPath hg19 (UCSC)CYP27A1  -     chr2:219646472-219680016 +  2q35   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)CYP27A1  -     2q35   [Description]    (hg38-Dec_2013)
EnsemblCYP27A1 - 2q35 [CytoView hg19]  CYP27A1 - 2q35 [CytoView hg38]
Mapping of homologs : NCBICYP27A1 [Mapview hg19]  CYP27A1 [Mapview hg38]
OMIM213700   606530   
Gene and transcription
Genbank (Entrez)AK226039 AK290418 AK310782 AY178622 BC017044
RefSeq transcript (Entrez)NM_000784
RefSeq genomic (Entrez)NC_000002 NC_018913 NG_007959 NT_005403 NW_004929305
Consensus coding sequences : CCDS (NCBI)CYP27A1
Cluster EST : UnigeneHs.516700 [ NCBI ]
CGAP (NCI)Hs.516700
Alternative Splicing GalleryENSG00000135929
Gene ExpressionCYP27A1 [ NCBI-GEO ]   CYP27A1 [ EBI - ARRAY_EXPRESS ]   CYP27A1 [ SEEK ]   CYP27A1 [ MEM ]
Gene Expression Viewer (FireBrowse)CYP27A1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1593
GTEX Portal (Tissue expression)CYP27A1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ02318 (Uniprot)
NextProtQ02318  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ02318
Splice isoforms : SwissVarQ02318 (Swissvar)
Catalytic activity : Enzyme1.14.13.15 [ Enzyme-Expasy ]   1.14.13.151.14.13.15 [ IntEnz-EBI ]   1.14.13.15 [ BRENDA ]   1.14.13.15 [ KEGG ]   
PhosPhoSitePlusQ02318
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 mutations1593
Blocks (Seattle)CYP27A1
PDB (SRS)1MFX   
PDB (PDBSum)1MFX   
PDB (IMB)1MFX   
PDB (RSDB)1MFX   
Structural Biology KnowledgeBase1MFX   
SCOP (Structural Classification of Proteins)1MFX   
CATH (Classification of proteins structures)1MFX   
SuperfamilyQ02318
Human Protein AtlasENSG00000135929
Peptide AtlasQ02318
HPRD05939
IPIIPI00025307   IPI00927800   IPI00927643   
Protein Interaction databases
DIP (DOE-UCLA)Q02318
IntAct (EBI)Q02318
FunCoupENSG00000135929
BioGRIDCYP27A1
STRING (EMBL)CYP27A1
ZODIACCYP27A1
Ontologies - Pathways
QuickGOQ02318
Ontology : AmiGOiron ion binding  mitochondrial inner membrane  mitochondrial matrix  bile acid biosynthetic process  steroid hydroxylase activity  sterol metabolic process  oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen  heme binding  oxidation-reduction process  
Ontology : EGO-EBIiron ion binding  mitochondrial inner membrane  mitochondrial matrix  bile acid biosynthetic process  steroid hydroxylase activity  sterol metabolic process  oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen  heme binding  oxidation-reduction process  
Pathways : KEGGPrimary bile acid biosynthesis    PPAR signaling pathway   
NDEx Network
Atlas of Cancer Signalling NetworkCYP27A1
Wikipedia pathwaysCYP27A1
Orthology - Evolution
OrthoDB1593
GeneTree (enSembl)ENSG00000135929
Phylogenetic Trees/Animal Genes : TreeFamCYP27A1
Homologs : HomoloGeneCYP27A1
Homology/Alignments : Family Browser (UCSC)CYP27A1
Gene fusions - Rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerCYP27A1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CYP27A1
dbVarCYP27A1
ClinVarCYP27A1
1000_GenomesCYP27A1 
Exome Variant ServerCYP27A1
ExAC (Exome Aggregation Consortium)CYP27A1 (select the gene name)
Genetic variants : HAPMAP1593
Genomic Variants (DGV)CYP27A1 [DGVbeta]
Mutations
ICGC Data PortalCYP27A1 
TCGA Data PortalCYP27A1 
Broad Tumor PortalCYP27A1
OASIS PortalCYP27A1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCYP27A1 
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
LOVD (Leiden Open Variation Database)Cerebrotendinous Xanthomatosis
BioMutasearch CYP27A1
DgiDB (Drug Gene Interaction Database)CYP27A1
DoCM (Curated mutations)CYP27A1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CYP27A1 (select a term)
intoGenCYP27A1
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)2:219646472-219680016  ENSG00000135929
CONAN: Copy Number AnalysisCYP27A1 
Mutations and Diseases : HGMDCYP27A1
OMIM213700    606530   
MedgenCYP27A1
Genetic Testing Registry CYP27A1
NextProtQ02318 [Medical]
TSGene1593
GENETestsCYP27A1
Huge Navigator CYP27A1 [HugePedia]
snp3D : Map Gene to Disease1593
BioCentury BCIQCYP27A1
ClinGenCYP27A1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD1593
Chemical/Pharm GKB GenePA135
Clinical trialCYP27A1
Miscellaneous
canSAR (ICR)CYP27A1 (select the gene name)
Probes
Litterature
PubMed74 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCYP27A1
EVEXCYP27A1
GoPubMedCYP27A1
iHOPCYP27A1
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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