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CEPT1 (choline/ethanolamine phosphotransferase 1)

Identity

Alias (NCBI)-
HGNC (Hugo) CEPT1
LocusID (NCBI) 10390
Atlas_Id 54213
Location 1p13.3  [Link to chromosome band 1p13]
Location_base_pair Starts at 111140223 and ends at 111185104 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)
CEPT1 (1p13.3) / DENND5B (12p11.21)CEPT1 (1p13.3) / WDR3 (1p12)

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

 



Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 2 ]
  t(1;1)(p12;p13) CEPT1/WDR3
t(1;12)(p13;p11) CEPT1/DENND5B


External links

Nomenclature
HGNC (Hugo)CEPT1   24289
Cards
Entrez_Gene (NCBI)CEPT1    choline/ethanolamine phosphotransferase 1
Aliases
GeneCards (Weizmann)CEPT1
Ensembl hg19 (Hinxton)ENSG00000134255 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000134255 [Gene_View]  ENSG00000134255 [Sequence]  chr1:111140223-111185104 [Contig_View]  CEPT1 [Vega]
ICGC DataPortalENSG00000134255
TCGA cBioPortalCEPT1
AceView (NCBI)CEPT1
Genatlas (Paris)CEPT1
SOURCE (Princeton)CEPT1
Genetics Home Reference (NIH)CEPT1
Genomic and cartography
GoldenPath hg38 (UCSC)CEPT1  -     chr1:111140223-111185104 +  1p13.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CEPT1  -     1p13.3   [Description]    (hg19-Feb_2009)
GoldenPathCEPT1 - 1p13.3 [CytoView hg19]  CEPT1 - 1p13.3 [CytoView hg38]
ImmunoBaseENSG00000134255
genome Data Viewer NCBICEPT1 [Mapview hg19]  
OMIM616751   
Gene and transcription
Genbank (Entrez)AF068302 AF138862 AK023381 AK095229 AL832104
RefSeq transcript (Entrez)NM_001007794 NM_001330743 NM_006090
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CEPT1
Alternative Splicing GalleryENSG00000134255
Gene ExpressionCEPT1 [ NCBI-GEO ]   CEPT1 [ EBI - ARRAY_EXPRESS ]   CEPT1 [ SEEK ]   CEPT1 [ MEM ]
Gene Expression Viewer (FireBrowse)CEPT1 [ Firebrowse - Broad ]
GenevisibleExpression of CEPT1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)10390
GTEX Portal (Tissue expression)CEPT1
Human Protein AtlasENSG00000134255-CEPT1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9Y6K0   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9Y6K0  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9Y6K0
Splice isoforms : SwissVarQ9Y6K0
Catalytic activity : Enzyme2.7.8.1 [ Enzyme-Expasy ]   2.7.8.12.7.8.1 [ IntEnz-EBI ]   2.7.8.1 [ BRENDA ]   2.7.8.1 [ KEGG ]   [ MEROPS ]
PhosPhoSitePlusQ9Y6K0
Domaine pattern : Prosite (Expaxy)CDP_ALCOHOL_P_TRANSF (PS00379)   
Domains : Interpro (EBI)CDP-OH_P_trans    CHOPT   
Domain families : Pfam (Sanger)CDP-OH_P_transf (PF01066)   
Domain families : Pfam (NCBI)pfam01066   
Conserved Domain (NCBI)CEPT1
Blocks (Seattle)CEPT1
SuperfamilyQ9Y6K0
Human Protein Atlas [tissue]ENSG00000134255-CEPT1 [tissue]
Peptide AtlasQ9Y6K0
HPRD13024
IPIIPI00005775   
Protein Interaction databases
DIP (DOE-UCLA)Q9Y6K0
IntAct (EBI)Q9Y6K0
BioGRIDCEPT1
STRING (EMBL)CEPT1
ZODIACCEPT1
Ontologies - Pathways
QuickGOQ9Y6K0
Ontology : AmiGOdiacylglycerol cholinephosphotransferase activity  ethanolaminephosphotransferase activity  endoplasmic reticulum membrane  endoplasmic reticulum membrane  Golgi apparatus  lipid metabolic process  phosphatidylethanolamine biosynthetic process  phosphatidylethanolamine biosynthetic process  phosphatidylethanolamine biosynthetic process  phosphatidylcholine biosynthetic process  CDP-choline pathway  integral component of membrane  phosphotransferase activity, for other substituted phosphate groups  nuclear membrane  metal ion binding  
Ontology : EGO-EBIdiacylglycerol cholinephosphotransferase activity  ethanolaminephosphotransferase activity  endoplasmic reticulum membrane  endoplasmic reticulum membrane  Golgi apparatus  lipid metabolic process  phosphatidylethanolamine biosynthetic process  phosphatidylethanolamine biosynthetic process  phosphatidylethanolamine biosynthetic process  phosphatidylcholine biosynthetic process  CDP-choline pathway  integral component of membrane  phosphotransferase activity, for other substituted phosphate groups  nuclear membrane  metal ion binding  
Pathways : KEGGGlycerophospholipid metabolism    Ether lipid metabolism   
NDEx NetworkCEPT1
Atlas of Cancer Signalling NetworkCEPT1
Wikipedia pathwaysCEPT1
Orthology - Evolution
OrthoDB10390
GeneTree (enSembl)ENSG00000134255
Phylogenetic Trees/Animal Genes : TreeFamCEPT1
HOGENOMQ9Y6K0
Homologs : HomoloGeneCEPT1
Homology/Alignments : Family Browser (UCSC)CEPT1
Gene fusions - Rearrangements
Fusion : MitelmanCEPT1/DENND5B [1p13.3/12p11.21]  
Fusion : MitelmanCEPT1/WDR3 [1p13.3/1p12]  
Fusion : QuiverCEPT1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCEPT1 [hg38]
dbVarCEPT1
ClinVarCEPT1
MonarchCEPT1
1000_GenomesCEPT1 
Exome Variant ServerCEPT1
GNOMAD BrowserENSG00000134255
Varsome BrowserCEPT1
Genomic Variants (DGV)CEPT1 [DGVbeta]
DECIPHERCEPT1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCEPT1 
Mutations
ICGC Data PortalCEPT1 
TCGA Data PortalCEPT1 
Broad Tumor PortalCEPT1
OASIS PortalCEPT1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCEPT1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DCEPT1
Mutations and Diseases : HGMDCEPT1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch CEPT1
DgiDB (Drug Gene Interaction Database)CEPT1
DoCM (Curated mutations)CEPT1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CEPT1 (select a term)
intoGenCEPT1
Cancer3DCEPT1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM616751   
Orphanet
DisGeNETCEPT1
MedgenCEPT1
Genetic Testing Registry CEPT1
NextProtQ9Y6K0 [Medical]
GENETestsCEPT1
Target ValidationCEPT1
Huge Navigator CEPT1 [HugePedia]
ClinGenCEPT1
Clinical trials, drugs, therapy
MyCancerGenomeCEPT1
Protein Interactions : CTD
Pharm GKB GenePA134892657
PharosQ9Y6K0
Clinical trialCEPT1
Miscellaneous
canSAR (ICR)CEPT1 (select the gene name)
HarmonizomeCEPT1
DataMed IndexCEPT1
Probes
Litterature
PubMed22 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXCEPT1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Fri Jan 1 18:09:43 CET 2021

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