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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
Entrez_Gene (NCBI)CYP27A1  1593  cytochrome P450, family 27, subfamily A, polypeptide 1
Cards
GeneCards (Weizmann)CYP27A1
Ensembl (Hinxton)ENSG00000135929 [Gene_View]  chr2:219646472-219680016 [Contig_View]  CYP27A1 [Vega]
AceView (NCBI)CYP27A1
Genatlas (Paris)CYP27A1
SOURCE (Stanford)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 (SRS)NM_000784
RefSeq transcript (Entrez)NM_000784
RefSeq genomic (SRS)AC_000134 NC_000002 NC_018913 NG_007959 NT_005403 NW_001838865 NW_004078008
RefSeq genomic (Entrez)AC_000134 NC_000002 NC_018913 NG_007959 NT_005403 NW_001838865 NW_004078008
Consensus coding sequences : CCDS (NCBI)CYP27A1
Cluster EST : UnigeneHs.516700 [ SRS ] Hs.516700 [ NCBI ]
CGAP (NCI)Hs.516700
Alternative Splicing : Fast-db (Paris)GSHG0017201
Alternative Splicing GalleryENSG00000135929
Gene ExpressionCYP27A1 [ NCBI-GEO ]   CYP27A1 [ EBI - ARRAY_EXPRESS ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ02318 (SRS) Q02318 (Uniprot)
NextProtQ02318
With graphics : InterProQ02318
Splice isoforms : SwissVarQ02318(Swissvar)
Domaine pattern : Prosite (SRS)CYTOCHROME_P450 (PS00086)   
Domaine pattern : Prosite (Expaxy)CYTOCHROME_P450 (PS00086)   
Domains : Interpro (SRS)Cyt_P450    Cyt_P450_CS    Cyt_P450_E_grp-I   
Domains : Interpro (EBI)Cyt_P450    Cyt_P450_CS    Cyt_P450_E_grp-I   
Related proteins : CluSTrQ02318
Domain families : Pfam (SRS)p450 (PF00067)   
Domain families : Pfam (Sanger)p450 (PF00067)   
Domain families : Pfam (NCBI)pfam00067   
DMDM1593
Blocks (Seattle)Q02318
PDB (SRS)1MFX   
PDB (PDBSum)1MFX   
PDB (IMB)1MFX   
PDB (RSDB)1MFX   
Human Protein AtlasENSG00000135929
HPRD05939
IPIIPI00025307   IPI00927800   IPI00927643   
Protein Interaction databases
DIP (DOE-UCLA)Q02318
IntAct (EBI)Q02318
FunCoupENSG00000135929
REACTOMECYP27A1
Protein Interaction Database1593
BioGRIDCYP27A1
InParanoidQ02318
Interologous Interaction database Q02318
IntegromeDBCYP27A1
Polymorphism : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)CYP27A1
SNP (GeneSNP Utah)CYP27A1
SNP : HGBaseCYP27A1
Genetic variants : HAPMAPCYP27A1
Somatic Mutations in Cancer : COSMICCYP27A1 
CONAN: Copy Number AnalysisCYP27A1 
Mutations and Diseases : HGMDCYP27A1
OMIM213700    606530   
GENETests213700    606530   
Disease Genetic AssociationCYP27A1
Huge Navigator CYP27A1 [HugePedia]  CYP27A1 [HugeCancerGEM]
Genomic VariantsCYP27A1  CYP27A1 [DGVbeta]
snp3D : Map Gene to Disease1593
General knowledge
Homologs : HomoloGeneCYP27A1
Homology/Alignments : Family Browser (UCSC)CYP27A1
Phylogenetic Trees/Animal Genes : TreeFamCYP27A1
Catalytic activity : Enzyme1.14.13.15 [ Enzyme-Expasy ]   1.14.13.15 [ Enzyme-SRS ]   1.14.13.15 [ IntEnz-EBI ]   1.14.13.15 [ BRENDA ]   1.14.13.15 [ KEGG ]   
Chemical/Protein Interactions : CTD1593
Chemical/Pharm GKB GenePA135
Clinical trialCYP27A1
Cancer Resource (Charite)ENSG00000135929
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  electron carrier activity  heme binding  vitamin D3 25-hydroxylase activity  cholesterol 26-hydroxylase activity  small molecule metabolic process  cholestanetriol 26-monooxygenase activity  
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  electron carrier activity  heme binding  vitamin D3 25-hydroxylase activity  cholesterol 26-hydroxylase activity  small molecule metabolic process  cholestanetriol 26-monooxygenase activity  
Pathways : KEGGPPAR signaling pathwayBile acid biosynthesis
Other databases
Probes
Litterature
PubMed63 Pubmed reference(s) in Entrez
PubGeneCYP27A1
iHOPCYP27A1
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
Updated01-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed May 1 12:36:52 CEST 2013

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