Free for academic non-profit institutions. Other users need a Commercial license

Aliases for EPT1 Gene

Aliases for EPT1 Gene

  • Ethanolaminephosphotransferase 1 2 3 5
  • Selenoprotein I 2 3 4
  • Ethanolaminephosphotransferase 1 (CDP-Ethanolamine-Specific) 2 3
  • HEPT1 3 4
  • SELI 3 4
  • EC 2.7.8.1 4
  • KIAA1724 4
  • SEPI 3

External Ids for EPT1 Gene

Previous GeneCards Identifiers for EPT1 Gene

  • GC02P026531

Summaries for EPT1 Gene

Entrez Gene Summary for EPT1 Gene

  • This gene encodes a selenoprotein, which contains a selenocysteine (Sec) residue at its active site. The selenocysteine is encoded by the UGA codon that normally signals translation termination. The 3' UTR of selenoprotein genes have a common stem-loop structure, the sec insertion sequence (SECIS), that is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. [provided by RefSeq, Jul 2008]

GeneCards Summary for EPT1 Gene

EPT1 (Ethanolaminephosphotransferase 1) is a Protein Coding gene. Among its related pathways are Metabolism and Glycerophospholipid biosynthesis. GO annotations related to this gene include phosphotransferase activity, for other substituted phosphate groups and ethanolaminephosphotransferase activity. An important paralog of this gene is CEPT1.

UniProtKB/Swiss-Prot for EPT1 Gene

  • Catalyzes phosphatidylethanolamine biosynthesis from CDP-ethanolamine. It thereby plays a central role in the formation and maintenance of vesicular membranes. Involved in the formation of phosphatidylethanolamine via Kennedy pathway.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EPT1 Gene

Genomics for EPT1 Gene

Regulatory Elements for EPT1 Gene

Enhancers for EPT1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around EPT1 on UCSC Golden Path with GeneCards custom track

Genomic Location for EPT1 Gene

Chromosome:
2
Start:
26,308,547 bp from pter
End:
26,395,891 bp from pter
Size:
87,345 bases
Orientation:
Plus strand

Genomic View for EPT1 Gene

Genes around EPT1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EPT1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EPT1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EPT1 Gene

Proteins for EPT1 Gene

  • Protein details for EPT1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9C0D9-EPT1_HUMAN
    Recommended name:
    Ethanolaminephosphotransferase 1
    Protein Accession:
    Q9C0D9
    Secondary Accessions:
    • Q63ZE3

    Protein attributes for EPT1 Gene

    Size:
    397 amino acids
    Molecular mass:
    45229 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAB21815.1; Type=Erroneous termination; Positions=387; Note=Translated as Sec.; Evidence={ECO:0000305};

neXtProt entry for EPT1 Gene

Proteomics data for EPT1 Gene at MOPED

Post-translational modifications for EPT1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for EPT1 Gene

No data available for DME Specific Peptides for EPT1 Gene

Domains & Families for EPT1 Gene

Protein Domains for EPT1 Gene

Suggested Antigen Peptide Sequences for EPT1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9C0D9

UniProtKB/Swiss-Prot:

EPT1_HUMAN :
  • Belongs to the CDP-alcohol phosphatidyltransferase class-I family.
Family:
  • Belongs to the CDP-alcohol phosphatidyltransferase class-I family.
genes like me logo Genes that share domains with EPT1: view

No data available for Gene Families for EPT1 Gene

Function for EPT1 Gene

Molecular function for EPT1 Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=1.8 uM for CDP-ethanolamine {ECO:0000269 PubMed:17132865}; Vmax=76.3 pmol/min/mg enzyme with CDP-ethanolamine as substrate {ECO:0000269 PubMed:17132865};
UniProtKB/Swiss-Prot CatalyticActivity:
CDP-ethanolamine + 1,2-diacyl-sn-glycerol = CMP + a phosphatidylethanolamine.
UniProtKB/Swiss-Prot Function:
Catalyzes phosphatidylethanolamine biosynthesis from CDP-ethanolamine. It thereby plays a central role in the formation and maintenance of vesicular membranes. Involved in the formation of phosphatidylethanolamine via Kennedy pathway.

Enzyme Numbers (IUBMB) for EPT1 Gene

Gene Ontology (GO) - Molecular Function for EPT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016780 phosphotransferase activity, for other substituted phosphate groups IEA --
genes like me logo Genes that share ontologies with EPT1: view
genes like me logo Genes that share phenotypes with EPT1: view

Animal Model Products

  • Taconic Biosciences Mouse Models for EPT1

miRNA for EPT1 Gene

miRTarBase miRNAs that target EPT1

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for EPT1 Gene

Localization for EPT1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EPT1 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for EPT1 Gene COMPARTMENTS Subcellular localization image for EPT1 gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 3
golgi apparatus 1

No data available for Gene Ontology (GO) - Cellular Components for EPT1 Gene

Pathways & Interactions for EPT1 Gene

genes like me logo Genes that share pathways with EPT1: view

UniProtKB/Swiss-Prot Q9C0D9-EPT1_HUMAN

  • Pathway: Phospholipid metabolism; phosphatidylethanolamine biosynthesis; phosphatidylethanolamine from ethanolamine: step 3/3.

Interacting Proteins for EPT1 Gene

Gene Ontology (GO) - Biological Process for EPT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006646 phosphatidylethanolamine biosynthetic process IEA,TAS --
GO:1903955 positive regulation of protein targeting to mitochondrion IMP 24270810
genes like me logo Genes that share ontologies with EPT1: view

No data available for SIGNOR curated interactions for EPT1 Gene

Drugs & Compounds for EPT1 Gene

(4) Drugs for EPT1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Selenocysteine Experimental Pharma 0
Manganese Pharma 32
Selenium Pharma 168
Magnesium Nutra 0

(7) Additional Compounds for EPT1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
CDP-Ethanolamine
  • CDP Ethanolamine
  • CDP-Ethanolamine
  • CDPethanolamine
  • Cytidine diphosphate ethanolamine
3036-18-8
CMP-2-aminoethylphosphonate
Cytidine monophosphate
  • 5'-CMP
  • 5-Cytidylate
  • 5-Cytidylic acid
  • CMP
  • Cytidine 5'-monophosphate
63-37-6
PE(P-16:0e/16:0)
  • 2-Hexadecanoyl-1-(1Z-hexadecenyl)-sn-glycero-3-phosphoethanolamine
PEP-16:0/18:1(11Z))
  • 1-(1-Enyl-palmitoyl)-2-vaccenoyl-sn-glycero-3-phosphoethanolamine
  • GPEtn(16:0/18:1)
  • GPEtn(16:0/18:1n7)
  • GPEtn(16:0/18:1w7)
  • GPEtn(34:1)
genes like me logo Genes that share compounds with EPT1: view

Transcripts for EPT1 Gene

Unigene Clusters for EPT1 Gene

Ethanolaminephosphotransferase 1 (CDP-ethanolamine-specific):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for EPT1 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10 ^ 11a · 11b · 11c
SP1: -
SP2: - -
SP3:
SP4: - - - -

Relevant External Links for EPT1 Gene

GeneLoc Exon Structure for
EPT1
ECgene alternative splicing isoforms for
EPT1

Expression for EPT1 Gene

mRNA expression in normal human tissues for EPT1 Gene

Protein differential expression in normal tissues from HIPED for EPT1 Gene

This gene is overexpressed in Pancreas (13.9) and Fetal gut (6.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for EPT1 Gene



SOURCE GeneReport for Unigene cluster for EPT1 Gene Hs.189073

mRNA Expression by UniProt/SwissProt for EPT1 Gene

Q9C0D9-EPT1_HUMAN
Tissue specificity: Widely expressed. Abundant in brain, placenta, liver and pancreas, followed by heart, skeletal muscle, lung and kidney. In brain it is strongly expressed in cerebellum, followed by the occipital pole and the frontal lobe.
genes like me logo Genes that share expression patterns with EPT1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Protein tissue co-expression partners for EPT1 Gene

Orthologs for EPT1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for EPT1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia EPT1 35
  • 92.02 (n)
  • 94.21 (a)
EPT1 36
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia EPT1 35
  • 94.04 (n)
  • 95.47 (a)
EPT1 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ept1 35
  • 88.66 (n)
  • 91.44 (a)
Ept1 16
Ept1 36
  • 91 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia EPT1 35
  • 99.66 (n)
  • 100 (a)
EPT1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Seli 35
  • 86.03 (n)
  • 89.65 (a)
oppossum
(Monodelphis domestica)
Mammalia EPT1 36
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia EPT1 36
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves EPT1 35
  • 75.32 (n)
  • 81.17 (a)
EPT1 36
  • 70 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia EPT1 36
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ept1 35
  • 70.06 (n)
  • 78.37 (a)
Str.6538 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.9928 35
zebrafish
(Danio rerio)
Actinopterygii EPT1 36
  • 71 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008881 35
  • 51.52 (n)
  • 45.43 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG33116 35
  • 49.66 (n)
  • 44.62 (a)
CG33116 36
  • 40 (a)
OneToMany
CG7149 36
  • 40 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea CELE_F54D7.2 35
  • 48.03 (n)
  • 40.59 (a)
F54D7.2 36
  • 40 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CPT1 36
  • 23 (a)
ManyToMany
EPT1 36
  • 25 (a)
ManyToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.14326 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 34 (a)
OneToMany
-- 36
  • 46 (a)
OneToMany
Species with no ortholog for EPT1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for EPT1 Gene

ENSEMBL:
Gene Tree for EPT1 (if available)
TreeFam:
Gene Tree for EPT1 (if available)

Paralogs for EPT1 Gene

Paralogs for EPT1 Gene

(2) SIMAP similar genes for EPT1 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with EPT1: view

Variants for EPT1 Gene

Sequence variations from dbSNP and Humsavar for EPT1 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs718928 -- 26,393,600(+) GAAAA(C/T)CCACT utr-variant-3-prime
rs1835347 -- 26,369,929(-) attgt(C/T)ctatg intron-variant
rs934279 -- 26,390,188(-) GTCAT(A/G)TTAAC utr-variant-3-prime
rs934280 -- 26,385,124(-) GCAAA(A/G)GCTGT reference, synonymous-codon
rs958894 -- 26,355,926(+) TTGTA(A/G)AAATG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for EPT1 Gene

Variant ID Type Subtype PubMed ID
esv33316 CNV Loss 17666407
nsv508832 CNV Insertion 20534489
nsv2650 CNV Insertion 18451855

Variation tolerance for EPT1 Gene

Residual Variation Intolerance Score: 40.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.76; 16.13% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for EPT1 Gene

Disorders for EPT1 Gene

Relevant External Links for EPT1

Human Genome Epidemiology (HuGE) Navigator
EPT1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
EPT1

No disorders were found for EPT1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for EPT1 Gene

Publications for EPT1 Gene

  1. Identification and characterization of human ethanolaminephosphotransferase1. (PMID: 17132865) Horibata Y. … Hirabayashi Y. (J. Lipid Res. 2007) 2 3 4 23 67
  2. Prediction of the coding sequences of unidentified human genes. XIX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 11214970) Nagase T. … Ohara O. (DNA Res. 2000) 2 3
  3. A Dynamic Protein Interaction Landscape of the Human Centrosome-Cilium Interface. (PMID: 26638075) Gupta G.D. … Pelletier L. (Cell 2015) 3
  4. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3
  5. High-content genome-wide RNAi screens identify regulators of parkin upstream of mitophagy. (PMID: 24270810) Hasson S.A. … Youle R.J. (Nature 2013) 3

Products for EPT1 Gene

Sources for EPT1 Gene

Content