Atlas of Genetics and Cytogenetics in Oncology and Haematology


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CYP27A1 (cytochrome P450, family 27, subfamily A, polypeptide 1)

Identity

Other namesCP27
CTX
CYP27
HGNC (Hugo) CYP27A1
LocusID (NCBI) 1593
Location 2q35
Location_base_pair Starts at 219646472 and ends at 219680016 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)CYP27A1   2605
Cards
Entrez_Gene (NCBI)CYP27A1  1593  cytochrome P450, family 27, subfamily A, polypeptide 1
GeneCards (Weizmann)CYP27A1
Ensembl (Hinxton)ENSG00000135929 [Gene_View]  chr2:219646472-219680016 [Contig_View]  CYP27A1 [Vega]
ICGC DataPortalENSG00000135929
cBioPortalCYP27A1
AceView (NCBI)CYP27A1
Genatlas (Paris)CYP27A1
WikiGenes1593
SOURCE (Princeton)NM_000784
Genomic and cartography
GoldenPath (UCSC)CYP27A1  -  2q35   chr2:219646472-219680016 +  2q35   [Description]    (hg19-Feb_2009)
EnsemblCYP27A1 - 2q35 [CytoView]
Mapping of homologs : NCBICYP27A1 [Mapview]
OMIM213700   606530   
Gene and transcription
Genbank (Entrez)AK226039 AK290418 AK310782 AY178622 BC017044
RefSeq transcript (Entrez)NM_000784
RefSeq genomic (Entrez)AC_000134 NC_000002 NC_018913 NG_007959 NT_005403 NW_001838865 NW_004929305
Consensus coding sequences : CCDS (NCBI)CYP27A1
Cluster EST : UnigeneHs.516700 [ NCBI ]
CGAP (NCI)Hs.516700
Alternative Splicing : Fast-db (Paris)GSHG0017201
Alternative Splicing GalleryENSG00000135929
Gene ExpressionCYP27A1 [ NCBI-GEO ]     CYP27A1 [ SEEK ]   CYP27A1 [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ02318 (Uniprot)
NextProtQ02318  [Medical]
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 ]   
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 : CluSTrQ02318
Domain families : Pfam (Sanger)p450 (PF00067)   
Domain families : Pfam (NCBI)pfam00067   
DMDM Disease mutations1593
Blocks (Seattle)Q02318
PDB (SRS)1MFX   
PDB (PDBSum)1MFX   
PDB (IMB)1MFX   
PDB (RSDB)1MFX   
Human Protein AtlasENSG00000135929 [gene] [tissue] [antibody] [cell] [cancer]
Peptide AtlasQ02318
HPRD05939
IPIIPI00025307   IPI00927800   IPI00927643   
Protein Interaction databases
DIP (DOE-UCLA)Q02318
IntAct (EBI)Q02318
FunCoupENSG00000135929
BioGRIDCYP27A1
InParanoidQ02318
Interologous Interaction database Q02318
IntegromeDBCYP27A1
STRING (EMBL)CYP27A1
Ontologies - Pathways
Ontology : AmiGOiron ion binding  mitochondrial inner membrane  mitochondrial matrix  bile acid biosynthetic process  xenobiotic metabolic process  cholesterol metabolic process  bile acid metabolic process  steroid hydroxylase activity  sterol metabolic process  heme binding  vitamin D3 25-hydroxylase activity  cholesterol 26-hydroxylase activity  calcitriol biosynthetic process from calciol  small molecule metabolic process  cholestanetriol 26-monooxygenase activity  oxidation-reduction process  
Ontology : EGO-EBIiron ion binding  mitochondrial inner membrane  mitochondrial matrix  bile acid biosynthetic process  xenobiotic metabolic process  cholesterol metabolic process  bile acid metabolic process  steroid hydroxylase activity  sterol metabolic process  heme binding  vitamin D3 25-hydroxylase activity  cholesterol 26-hydroxylase activity  calcitriol biosynthetic process from calciol  small molecule metabolic process  cholestanetriol 26-monooxygenase activity  oxidation-reduction process  
Pathways : KEGGPrimary bile acid biosynthesis    PPAR signaling pathway   
Protein Interaction DatabaseCYP27A1
Wikipedia pathwaysCYP27A1
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)CYP27A1
snp3D : Map Gene to Disease1593
SNP (GeneSNP Utah)CYP27A1
SNP : HGBaseCYP27A1
Genetic variants : HAPMAPCYP27A1
Exome VariantCYP27A1
1000_GenomesCYP27A1 
ICGC programENSG00000135929 
Somatic Mutations in Cancer : COSMICCYP27A1 
CONAN: Copy Number AnalysisCYP27A1 
Mutations and Diseases : HGMDCYP27A1
Mutations and Diseases : intOGenCYP27A1
Genomic VariantsCYP27A1  CYP27A1 [DGVbeta]
dbVarCYP27A1
ClinVarCYP27A1
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM213700    606530   
MedgenCYP27A1
GENETestsCYP27A1
Disease Genetic AssociationCYP27A1
Huge Navigator CYP27A1 [HugePedia]  CYP27A1 [HugeCancerGEM]
General knowledge
Homologs : HomoloGeneCYP27A1
Homology/Alignments : Family Browser (UCSC)CYP27A1
Phylogenetic Trees/Animal Genes : TreeFamCYP27A1
Chemical/Protein Interactions : CTD1593
Chemical/Pharm GKB GenePA135
Clinical trialCYP27A1
Cancer Resource (Charite)ENSG00000135929
Other databases
Probes
Litterature
PubMed70 Pubmed reference(s) in Entrez
CoreMineCYP27A1
iHOPCYP27A1
OncoSearchCYP27A1
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 18:47:00 CEST 2014

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