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EPT1 (ethanolaminephosphotransferase 1)

Identity

Other aliasSELI
SEPI
HGNC (Hugo) EPT1
LocusID (NCBI) 85465
Atlas_Id 62874
Location 2p23.3  [Link to chromosome band 2p23]
Location_base_pair Starts at 26568954 and ends at 26618759 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
EPT1 (2p23.3) / LARP1 (5q33.2)

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)EPT1   29361
Cards
Entrez_Gene (NCBI)EPT1  85465  ethanolaminephosphotransferase 1
AliasesSELI; SEPI
GeneCards (Weizmann)EPT1
Ensembl hg19 (Hinxton)ENSG00000138018 [Gene_View]  chr2:26568954-26618759 [Contig_View]  EPT1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000138018 [Gene_View]  chr2:26568954-26618759 [Contig_View]  EPT1 [Vega]
ICGC DataPortalENSG00000138018
TCGA cBioPortalEPT1
AceView (NCBI)EPT1
Genatlas (Paris)EPT1
WikiGenes85465
SOURCE (Princeton)EPT1
Genetics Home Reference (NIH)EPT1
Genomic and cartography
GoldenPath hg19 (UCSC)EPT1  -     chr2:26568954-26618759 +  2p23.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)EPT1  -     2p23.3   [Description]    (hg38-Dec_2013)
EnsemblEPT1 - 2p23.3 [CytoView hg19]  EPT1 - 2p23.3 [CytoView hg38]
Mapping of homologs : NCBIEPT1 [Mapview hg19]  EPT1 [Mapview hg38]
OMIM607915   
Gene and transcription
Genbank (Entrez)AB051511 AB621826 AK023242 AK091340 AK092710
RefSeq transcript (Entrez)NM_033505
RefSeq genomic (Entrez)NC_000002 NC_018913 NT_022184 NW_004929300
Consensus coding sequences : CCDS (NCBI)EPT1
Cluster EST : UnigeneHs.189073 [ NCBI ]
CGAP (NCI)Hs.189073
Alternative Splicing GalleryENSG00000138018
Gene ExpressionEPT1 [ NCBI-GEO ]   EPT1 [ EBI - ARRAY_EXPRESS ]   EPT1 [ SEEK ]   EPT1 [ MEM ]
Gene Expression Viewer (FireBrowse)EPT1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)85465
GTEX Portal (Tissue expression)EPT1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9C0D9   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9C0D9  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9C0D9
Splice isoforms : SwissVarQ9C0D9
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 ]   
PhosPhoSitePlusQ9C0D9
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)EPT1
DMDM Disease mutations85465
Blocks (Seattle)EPT1
SuperfamilyQ9C0D9
Human Protein AtlasENSG00000138018
Peptide AtlasQ9C0D9
HPRD07616
IPIIPI00028338   IPI00783666   IPI00894558   
Protein Interaction databases
DIP (DOE-UCLA)Q9C0D9
IntAct (EBI)Q9C0D9
FunCoupENSG00000138018
BioGRIDEPT1
STRING (EMBL)EPT1
ZODIACEPT1
Ontologies - Pathways
QuickGOQ9C0D9
Ontology : AmiGOethanolaminephosphotransferase activity  endoplasmic reticulum membrane  phospholipid metabolic process  phosphatidylethanolamine biosynthetic process  phosphatidylethanolamine biosynthetic process  phosphatidylethanolamine biosynthetic process  integral component of membrane  small molecule metabolic process  glycerophospholipid biosynthetic process  metal ion binding  positive regulation of protein targeting to mitochondrion  
Ontology : EGO-EBIethanolaminephosphotransferase activity  endoplasmic reticulum membrane  phospholipid metabolic process  phosphatidylethanolamine biosynthetic process  phosphatidylethanolamine biosynthetic process  phosphatidylethanolamine biosynthetic process  integral component of membrane  small molecule metabolic process  glycerophospholipid biosynthetic process  metal ion binding  positive regulation of protein targeting to mitochondrion  
Pathways : KEGGGlycerophospholipid metabolism    Ether lipid metabolism   
NDEx NetworkEPT1
Atlas of Cancer Signalling NetworkEPT1
Wikipedia pathwaysEPT1
Orthology - Evolution
OrthoDB85465
GeneTree (enSembl)ENSG00000138018
Phylogenetic Trees/Animal Genes : TreeFamEPT1
HOVERGENQ9C0D9
HOGENOMQ9C0D9
Homologs : HomoloGeneEPT1
Homology/Alignments : Family Browser (UCSC)EPT1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerEPT1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)EPT1
dbVarEPT1
ClinVarEPT1
1000_GenomesEPT1 
Exome Variant ServerEPT1
ExAC (Exome Aggregation Consortium)EPT1 (select the gene name)
Genetic variants : HAPMAP85465
Genomic Variants (DGV)EPT1 [DGVbeta]
DECIPHER (Syndromes)2:26568954-26618759  ENSG00000138018
CONAN: Copy Number AnalysisEPT1 
Mutations
ICGC Data PortalEPT1 
TCGA Data PortalEPT1 
Broad Tumor PortalEPT1
OASIS PortalEPT1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICEPT1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDEPT1
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 EPT1
DgiDB (Drug Gene Interaction Database)EPT1
DoCM (Curated mutations)EPT1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)EPT1 (select a term)
intoGenEPT1
Cancer3DEPT1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM607915   
Orphanet
MedgenEPT1
Genetic Testing Registry EPT1
NextProtQ9C0D9 [Medical]
TSGene85465
GENETestsEPT1
Huge Navigator EPT1 [HugePedia]
snp3D : Map Gene to Disease85465
BioCentury BCIQEPT1
ClinGenEPT1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD85465
Chemical/Pharm GKB GenePA165696581
Clinical trialEPT1
Miscellaneous
canSAR (ICR)EPT1 (select the gene name)
Probes
Litterature
PubMed15 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineEPT1
EVEXEPT1
GoPubMedEPT1
iHOPEPT1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 12:03:01 CET 2017

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