Atlas of Genetics and Cytogenetics in Oncology and Haematology


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CYP46A1 (cytochrome P450 family 46 subfamily A member 1)

Identity

Alias (NCBI)CP46
CYP46
HGNC (Hugo) CYP46A1
HGNC Previous nameCYP46
HGNC Previous namecytochrome P450, subfamily 46 (cholesterol 24-hydroxylase)
 cytochrome P450, family 46, subfamily A, polypeptide 1
LocusID (NCBI) 10858
Atlas_Id 62257
Location 14q32.2  [Link to chromosome band 14q32]
Location_base_pair Starts at 99684298 and ends at 99727301 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
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    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]  ENSG00000036530 [Sequence]  chr14:99684298-99727301 [Contig_View]  CYP46A1 [Vega]
ICGC DataPortalENSG00000036530
TCGA cBioPortalCYP46A1
AceView (NCBI)CYP46A1
Genatlas (Paris)CYP46A1
SOURCE (Princeton)CYP46A1
Genetics Home Reference (NIH)CYP46A1
Genomic and cartography
GoldenPath hg38 (UCSC)CYP46A1  -     chr14:99684298-99727301 +  14q32.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CYP46A1  -     14q32.2   [Description]    (hg19-Feb_2009)
GoldenPathCYP46A1 - 14q32.2 [CytoView hg19]  CYP46A1 - 14q32.2 [CytoView hg38]
ImmunoBaseENSG00000036530
Genome Data Viewer NCBICYP46A1 [Mapview hg19]  
OMIM604087   
Gene and transcription
Genbank (Entrez)AB209749 AF094480 AK090886 AK295216 BC022539
RefSeq transcript (Entrez)NM_006668
Consensus coding sequences : CCDS (NCBI)CYP46A1
Gene ExpressionCYP46A1 [ NCBI-GEO ]   CYP46A1 [ EBI - ARRAY_EXPRESS ]   CYP46A1 [ SEEK ]   CYP46A1 [ MEM ]
Gene Expression Viewer (FireBrowse)CYP46A1 [ Firebrowse - Broad ]
GenevisibleExpression of CYP46A1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)10858
GTEX Portal (Tissue expression)CYP46A1
Human Protein AtlasENSG00000036530-CYP46A1 [pathology]   [cell]   [tissue]
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
PhosPhoSitePlusQ9Y6A2
Domaine pattern : Prosite (Expaxy)CYTOCHROME_P450 (PS00086)   
Domains : Interpro (EBI)CYP46A1    Cyt_P450    Cyt_P450_CS    Cyt_P450_E_grp-I    Cyt_P450_sf   
Domain families : Pfam (Sanger)p450 (PF00067)   
Domain families : Pfam (NCBI)pfam00067   
Conserved Domain (NCBI)CYP46A1
PDB (RSDB)2Q9F    2Q9G    3MDM    3MDR    3MDT    3MDV    4ENH    4FIA    4J14   
PDB Europe2Q9F    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   
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
AlphaFold pdb e-kbQ9Y6A2   
Human Protein Atlas [tissue]ENSG00000036530-CYP46A1 [tissue]
HPRD04970
Protein Interaction databases
DIP (DOE-UCLA)Q9Y6A2
IntAct (EBI)Q9Y6A2
BioGRIDCYP46A1
STRING (EMBL)CYP46A1
ZODIACCYP46A1
Ontologies - Pathways
QuickGOQ9Y6A2
Ontology : AmiGOiron ion binding  endoplasmic reticulum  endoplasmic reticulum membrane  bile acid biosynthetic process  cholesterol catabolic process  cholesterol catabolic process  cholesterol catabolic process  cholesterol catabolic process  xenobiotic metabolic process  nervous system development  steroid hydroxylase activity  integral component of membrane  sterol metabolic process  heme binding  heme binding  dendrite  cholesterol 24-hydroxylase activity  cholesterol 24-hydroxylase activity  progesterone metabolic process  testosterone 16-beta-hydroxylase activity  presynapse  postsynapse  regulation of long-term synaptic potentiation  protein localization to membrane raft  
Ontology : EGO-EBIiron ion binding  endoplasmic reticulum  endoplasmic reticulum membrane  bile acid biosynthetic process  cholesterol catabolic process  cholesterol catabolic process  cholesterol catabolic process  cholesterol catabolic process  xenobiotic metabolic process  nervous system development  steroid hydroxylase activity  integral component of membrane  sterol metabolic process  heme binding  heme binding  dendrite  cholesterol 24-hydroxylase activity  cholesterol 24-hydroxylase activity  progesterone metabolic process  testosterone 16-beta-hydroxylase activity  presynapse  postsynapse  regulation of long-term synaptic potentiation  protein localization to membrane raft  
NDEx NetworkCYP46A1
Atlas of Cancer Signalling NetworkCYP46A1
Wikipedia pathwaysCYP46A1
Orthology - Evolution
OrthoDB10858
GeneTree (enSembl)ENSG00000036530
Phylogenetic Trees/Animal Genes : TreeFamCYP46A1
Homologs : HomoloGeneCYP46A1
Homology/Alignments : Family Browser (UCSC)CYP46A1
Gene fusions - Rearrangements
Fusion : QuiverCYP46A1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCYP46A1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CYP46A1
dbVarCYP46A1
ClinVarCYP46A1
MonarchCYP46A1
1000_GenomesCYP46A1 
Exome Variant ServerCYP46A1
GNOMAD BrowserENSG00000036530
Varsome BrowserCYP46A1
ACMGCYP46A1 variants
VarityQ9Y6A2
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]  
Somatic Mutations in Cancer : COSMIC3DCYP46A1
Mutations and Diseases : HGMDCYP46A1
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaCYP46A1
DgiDB (Drug Gene Interaction Database)CYP46A1
DoCM (Curated mutations)CYP46A1
CIViC (Clinical Interpretations of Variants in Cancer)CYP46A1
Cancer3DCYP46A1
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM604087   
Orphanet
DisGeNETCYP46A1
MedgenCYP46A1
Genetic Testing Registry CYP46A1
NextProtQ9Y6A2 [Medical]
GENETestsCYP46A1
Target ValidationCYP46A1
Huge Navigator CYP46A1 [HugePedia]
ClinGenCYP46A1
Clinical trials, drugs, therapy
MyCancerGenomeCYP46A1
Protein Interactions : CTDCYP46A1
Pharm GKB GenePA27117
PharosQ9Y6A2
Clinical trialCYP46A1
Miscellaneous
canSAR (ICR)CYP46A1
HarmonizomeCYP46A1
ARCHS4CYP46A1
DataMed IndexCYP46A1
Probes
Litterature
PubMed72 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXCYP46A1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Sun Jan 16 18:49:59 CET 2022

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