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CYP46A1 (cytochrome P450 family 46 subfamily A member 1)

Identity

Alias_namesCYP46
cytochrome P450, subfamily 46 (cholesterol 24-hydroxylase)
cytochrome P450, family 46, subfamily A, polypeptide 1
Other aliasCP46
HGNC (Hugo) CYP46A1
LocusID (NCBI) 10858
Atlas_Id 62257
Location 14q32.2  [Link to chromosome band 14q32]
Location_base_pair Starts at 99684418 and ends at 99727301 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
TRIP11 (14q32.12) / CYP46A1 (14q32.2)ZNF708 (19p12) / CYP46A1 (14q32.2)

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)CYP46A1   2641
Cards
Entrez_Gene (NCBI)CYP46A1  10858  cytochrome P450 family 46 subfamily A member 1
AliasesCP46; CYP46
GeneCards (Weizmann)CYP46A1
Ensembl hg19 (Hinxton)ENSG00000036530 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000036530 [Gene_View]  chr14:99684418-99727301 [Contig_View]  CYP46A1 [Vega]
ICGC DataPortalENSG00000036530
TCGA cBioPortalCYP46A1
AceView (NCBI)CYP46A1
Genatlas (Paris)CYP46A1
WikiGenes10858
SOURCE (Princeton)CYP46A1
Genetics Home Reference (NIH)CYP46A1
Genomic and cartography
GoldenPath hg38 (UCSC)CYP46A1  -     chr14:99684418-99727301 +  14q32.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CYP46A1  -     14q32.2   [Description]    (hg19-Feb_2009)
EnsemblCYP46A1 - 14q32.2 [CytoView hg19]  CYP46A1 - 14q32.2 [CytoView hg38]
Mapping of homologs : NCBICYP46A1 [Mapview hg19]  CYP46A1 [Mapview hg38]
OMIM604087   
Gene and transcription
Genbank (Entrez)AB209749 AF094480 AK090886 AK295216 BC022539
RefSeq transcript (Entrez)NM_006668
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CYP46A1
Cluster EST : UnigeneHs.25121 [ NCBI ]
CGAP (NCI)Hs.25121
Alternative Splicing GalleryENSG00000036530
Gene ExpressionCYP46A1 [ NCBI-GEO ]   CYP46A1 [ EBI - ARRAY_EXPRESS ]   CYP46A1 [ SEEK ]   CYP46A1 [ MEM ]
Gene Expression Viewer (FireBrowse)CYP46A1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)10858
GTEX Portal (Tissue expression)CYP46A1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9Y6A2   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9Y6A2  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9Y6A2
Splice isoforms : SwissVarQ9Y6A2
PhosPhoSitePlusQ9Y6A2
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   
Conserved Domain (NCBI)CYP46A1
DMDM Disease mutations10858
Blocks (Seattle)CYP46A1
PDB (SRS)2Q9F    2Q9G    3MDM    3MDR    3MDT    3MDV    4ENH    4FIA    4J14   
PDB (PDBSum)2Q9F    2Q9G    3MDM    3MDR    3MDT    3MDV    4ENH    4FIA    4J14   
PDB (IMB)2Q9F    2Q9G    3MDM    3MDR    3MDT    3MDV    4ENH    4FIA    4J14   
PDB (RSDB)2Q9F    2Q9G    3MDM    3MDR    3MDT    3MDV    4ENH    4FIA    4J14   
Structural Biology KnowledgeBase2Q9F    2Q9G    3MDM    3MDR    3MDT    3MDV    4ENH    4FIA    4J14   
SCOP (Structural Classification of Proteins)2Q9F    2Q9G    3MDM    3MDR    3MDT    3MDV    4ENH    4FIA    4J14   
CATH (Classification of proteins structures)2Q9F    2Q9G    3MDM    3MDR    3MDT    3MDV    4ENH    4FIA    4J14   
SuperfamilyQ9Y6A2
Human Protein AtlasENSG00000036530
Peptide AtlasQ9Y6A2
HPRD04970
IPIIPI00002133   IPI01014102   IPI00556591   IPI01025142   IPI01025292   IPI01025416   IPI01025446   IPI01025582   
Protein Interaction databases
DIP (DOE-UCLA)Q9Y6A2
IntAct (EBI)Q9Y6A2
FunCoupENSG00000036530
BioGRIDCYP46A1
STRING (EMBL)CYP46A1
ZODIACCYP46A1
Ontologies - Pathways
QuickGOQ9Y6A2
Ontology : AmiGOiron ion binding  endoplasmic reticulum  endoplasmic reticulum membrane  bile acid biosynthetic process  cholesterol catabolic process  xenobiotic metabolic process  nervous system development  steroid hydroxylase activity  integral component of membrane  sterol metabolic process  heme binding  organelle membrane  cholesterol 24-hydroxylase activity  cholesterol 24-hydroxylase activity  oxidation-reduction process  
Ontology : EGO-EBIiron ion binding  endoplasmic reticulum  endoplasmic reticulum membrane  bile acid biosynthetic process  cholesterol catabolic process  xenobiotic metabolic process  nervous system development  steroid hydroxylase activity  integral component of membrane  sterol metabolic process  heme binding  organelle membrane  cholesterol 24-hydroxylase activity  cholesterol 24-hydroxylase activity  oxidation-reduction process  
Pathways : KEGGPrimary bile acid biosynthesis   
NDEx NetworkCYP46A1
Atlas of Cancer Signalling NetworkCYP46A1
Wikipedia pathwaysCYP46A1
Orthology - Evolution
OrthoDB10858
GeneTree (enSembl)ENSG00000036530
Phylogenetic Trees/Animal Genes : TreeFamCYP46A1
HOVERGENQ9Y6A2
HOGENOMQ9Y6A2
Homologs : HomoloGeneCYP46A1
Homology/Alignments : Family Browser (UCSC)CYP46A1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCYP46A1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CYP46A1
dbVarCYP46A1
ClinVarCYP46A1
1000_GenomesCYP46A1 
Exome Variant ServerCYP46A1
ExAC (Exome Aggregation Consortium)CYP46A1 (select the gene name)
Genetic variants : HAPMAP10858
Genomic Variants (DGV)CYP46A1 [DGVbeta]
DECIPHERCYP46A1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCYP46A1 
Mutations
ICGC Data PortalCYP46A1 
TCGA Data PortalCYP46A1 
Broad Tumor PortalCYP46A1
OASIS PortalCYP46A1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCYP46A1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCYP46A1
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
BioMutasearch CYP46A1
DgiDB (Drug Gene Interaction Database)CYP46A1
DoCM (Curated mutations)CYP46A1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CYP46A1 (select a term)
intoGenCYP46A1
Cancer3DCYP46A1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM604087   
Orphanet
MedgenCYP46A1
Genetic Testing Registry CYP46A1
NextProtQ9Y6A2 [Medical]
TSGene10858
GENETestsCYP46A1
Target ValidationCYP46A1
Huge Navigator CYP46A1 [HugePedia]
snp3D : Map Gene to Disease10858
BioCentury BCIQCYP46A1
ClinGenCYP46A1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD10858
Chemical/Pharm GKB GenePA27117
Clinical trialCYP46A1
Miscellaneous
canSAR (ICR)CYP46A1 (select the gene name)
Probes
Litterature
PubMed65 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCYP46A1
EVEXCYP46A1
GoPubMedCYP46A1
iHOPCYP46A1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Aug 1 16:13:08 CEST 2017

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