The multi-pass transmembrane protein encoded by this gene belongs to the CDP-alcohol phosphatidyltransferase class-I family. It catalyzes the transfer of phosphoethanolamine from CDP-ethanolamine to diacylglycerol to produce phosphatidylethanolamine, which is involved in the formation and maintenance of vesicular membranes, regulation of lipid metabolism, and protein folding. T... See more...

Aliases for SELENOI Gene

Aliases for SELENOI Gene

  • Selenoprotein I 2 3 4 5
  • Ethanolaminephosphotransferase 1 2 3 4
  • Ethanolaminephosphotransferase 1 (CDP-Ethanolamine-Specific) 2 3
  • HEPT1 3 4
  • EPT1 3 4
  • SELI 3 4
  • EC 2.7.8.1 4
  • KIAA1724 4
  • SEPI 3
  • SelI 4

External Ids for SELENOI Gene

Previous HGNC Symbols for SELENOI Gene

  • EPT1

Summaries for SELENOI Gene

Entrez Gene Summary for SELENOI Gene

  • The multi-pass transmembrane protein encoded by this gene belongs to the CDP-alcohol phosphatidyltransferase class-I family. It catalyzes the transfer of phosphoethanolamine from CDP-ethanolamine to diacylglycerol to produce phosphatidylethanolamine, which is involved in the formation and maintenance of vesicular membranes, regulation of lipid metabolism, and protein folding. This protein is a selenoprotein, containing the rare selenocysteine (Sec) amino acid at its active site. Sec is encoded by the UGA codon, which normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2016]

GeneCards Summary for SELENOI Gene

SELENOI (Selenoprotein I) is a Protein Coding gene. Diseases associated with SELENOI include Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction. Among its related pathways are Selenium Micronutrient Network and Glycerophospholipid biosynthesis. An important paralog of this gene is CEPT1.

UniProtKB/Swiss-Prot Summary for SELENOI 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.

Additional gene information for SELENOI Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SELENOI Gene

Genomics for SELENOI Gene

GeneHancer (GH) Regulatory Elements for SELENOI Gene

Promoters and enhancers for SELENOI Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J026342 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 759.4 +37.2 37223 6.3 SIN3A SP1 SREBF1 MLX RBPJ SMARCE1 POLR2A CTBP1 NR2F1 ATF1 ADGRF3 SELENOI lnc-HADHA-4 lnc-HADHA-5 CAD ASXL2 GTF3C2-AS1 AGBL5 TMEM214 KIF3C
GH02J026298 Promoter/Enhancer 1.9 EPDnew FANTOM5 ENCODE CraniofacialAtlas dbSUPER 750.4 -8.7 -8734 3.4 ETV6 MAX ZNF652 SP1 BCL6B PRDM1 EGR1 IKZF1 RFX1 IKZF2 ENSG00000286707 LOC105374334 lnc-SELENOI-1 SELENOI HADHB HADHA ADGRF3 ASXL2 ATRAID CAD
GH02J026307 Enhancer 0.2 Ensembl 750.6 -1.1 -1146 0.8 SELENOI piR-61313-001 HADHA LOC105374334 lnc-SELENOI-1
GH02J026184 Promoter/Enhancer 1.5 Ensembl ENCODE CraniofacialAtlas 10.6 -123.2 -123237 2.2 ZBTB40 ELF1 L3MBTL2 ZNF148 NKRF POLR2A ZFX CTCF MLLT1 ZNF687 KIF3C GAREM2 ENSG00000272056 ENSG00000230286 MAPRE3 DTNB DPYSL5 ENSG00000272148 SELENOI ADGRF3
GH02J026454 Enhancer 1.1 Ensembl ENCODE 10.6 +150.1 150054 11.2 CTCF LCORL RBPJ NR2F1 NR2F6 ZNF362 MIXL1 NFYC RAD21 DACH1 DRC1 ADGRF3 SELENOI HADHB lnc-ADGRF3-4 piR-57460-365 OTOF
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SELENOI on UCSC Golden Path with GeneCards custom track

Genomic Locations for SELENOI Gene

Genomic Locations for SELENOI Gene
chr2:26,308,547-26,395,891
(GRCh38/hg38)
Size:
87,345 bases
Orientation:
Plus strand
chr2:26,531,415-26,618,759
(GRCh37/hg19)
Size:
87,345 bases
Orientation:
Plus strand

Genomic View for SELENOI Gene

Genes around SELENOI on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for SELENOI Gene

Proteins for SELENOI Gene

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

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

    Protein attributes for SELENOI 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 SELENOI Gene

Post-translational modifications for SELENOI Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SELENOI Gene

No data available for DME Specific Peptides for SELENOI Gene

Domains & Families for SELENOI Gene

Gene Families for SELENOI Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted membrane proteins

Protein Domains for SELENOI Gene

Suggested Antigen Peptide Sequences for SELENOI Gene

GenScript: Design optimal peptide antigens:
  • Selenoprotein I (EPT1_HUMAN)
  • Selenoprotein I (Q8WU57_HUMAN)

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 SELENOI: view

Function for SELENOI Gene

Molecular function for SELENOI Gene

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.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a 1,2-diacyl-sn-glycerol + CDP-ethanolamine = a 1,2-diacyl-sn-glycero-3-phosphoethanolamine + CMP + H(+); Xref=Rhea:RHEA:32943, ChEBI:CHEBI:15378, ChEBI:CHEBI:17815, ChEBI:CHEBI:57876, ChEBI:CHEBI:60377, ChEBI:CHEBI:64612; EC=2.7.8.1; Evidence=. ;.
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};

Enzyme Numbers (IUBMB) for SELENOI Gene

Phenotypes From GWAS Catalog for SELENOI Gene

Gene Ontology (GO) - Molecular Function for SELENOI Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004307 ethanolaminephosphotransferase activity IDA 17132865
GO:0016740 transferase activity IEA --
GO:0016780 phosphotransferase activity, for other substituted phosphate groups IBA,IEA 21873635
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with SELENOI: view
genes like me logo Genes that share phenotypes with SELENOI: view

Human Phenotype Ontology for SELENOI Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for SELENOI

CRISPR Products

miRNA for SELENOI Gene

miRTarBase miRNAs that target SELENOI

Clone Products

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for SELENOI Gene

Localization for SELENOI Gene

Subcellular locations from UniProtKB/Swiss-Prot for SELENOI Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SELENOI gene
Compartment Confidence
endoplasmic reticulum 3
golgi apparatus 3
plasma membrane 2
nucleus 1

Gene Ontology (GO) - Cellular Components for SELENOI Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0005794 Golgi apparatus IBA 21873635
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with SELENOI: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SELENOI Gene

Pathways & Interactions for SELENOI Gene

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

UniProtKB/Swiss-Prot Q9C0D9-EPT1_HUMAN

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

Interacting Proteins for SELENOI Gene

Gene Ontology (GO) - Biological Process for SELENOI Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IEA --
GO:0006646 phosphatidylethanolamine biosynthetic process IDA,TAS --
GO:0008654 phospholipid biosynthetic process IEA --
genes like me logo Genes that share ontologies with SELENOI: view

No data available for SIGNOR curated interactions for SELENOI Gene

Drugs & Compounds for SELENOI Gene

(5) Drugs for SELENOI Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Magnesium Approved, Experimental, Investigational Pharma 0
Selenium Approved, Investigational, Vet_approved Pharma 220
Manganese Approved Nutra 48
Cytidine monophosphate Experimental Pharma 0
Selenocysteine Experimental Pharma 0

(6) Additional Compounds for SELENOI Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
CDP-Ethanolamine
  • CDP Ethanolamine
  • Cytidine 5'-(trihydrogen diphosphate), p'-(2-aminoethyl) ester
  • Cytidine diphosphate ethanolamine
  • Cytidine 5'-(trihydrogen diphosphoric acid), p'-(2-aminoethyl) ester
  • Cytidine diphosphoric acid ethanolamine
3036-18-8
CMP-2-aminoethylphosphonate
  • CMPciliatine
  • CMP-2-Aminoethylphosphonic acid
PE(P-16:0e/16:0)
  • 1-(Hexadec-1-enyl)-2-palmitoyl-sn-glycero-3-phosphoethanolamine zwitterion
  • 1-[(1Z)-Hexadec-1-enyl]-2-hexadecanoyl-sn-glycero-3-phosphoethanolamine zwitterion
  • 1-[(1Z)-Hexadec-1-enyl]-2-palmitoyl-sn-glycero-3-phosphoethanolamine zwitterion
  • PE(P-16:0/16:0)
  • 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)
Phosphatidylethanolamines Group A
  • 1-(1Z-Octadecenyl)-2-(5Z,8Z,11Z,14Z- eicosatetraenoyl)-sn-glycero-3-phosphoethanolamine
  • 1-(1Z-Octadecenyl)-2-(5Z,8Z,11Z,14Z-icosatetraenoyl)-sn-glycero-3-phosphoethanolamine zwitterion
  • 1-(1-Enyl-stearoyl)-2-arachidonoyl-sn-glycero-3-phosphoethanolamine
  • 1-(1Z-Octadecenyl)-2-(5Z,8Z,11Z,14Z-eicosatetraenoyl)-sn-glycero-3-phosphoethanolamine
  • 1-Alkenyl-2-acyl-glycerophosphoethanolamine
103597-60-0, 998-07-2, 923-61-5, 1069-79-0
genes like me logo Genes that share compounds with SELENOI: view

Transcripts for SELENOI Gene

mRNA/cDNA for SELENOI Gene

CRISPR Products

Clone Products

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

No ASD Table

Relevant External Links for SELENOI Gene

GeneLoc Exon Structure for
SELENOI
ECgene alternative splicing isoforms for
SELENOI

Expression for SELENOI Gene

NURSA nuclear receptor signaling pathways regulating expression of SELENOI Gene:

SELENOI

mRNA Expression by UniProt/SwissProt for SELENOI 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.

Evidence on tissue expression from TISSUES for SELENOI Gene

  • Nervous system(4.7)
  • Liver(2.2)

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for SELENOI Gene

Orthologs for SELENOI Gene

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

Orthologs for SELENOI Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia EPT1 33 32
  • 99.66 (n)
OneToOne
dog
(Canis familiaris)
Mammalia EPT1 33 32
  • 94.04 (n)
OneToOne
cow
(Bos Taurus)
Mammalia EPT1 33 32
  • 92.02 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Ept1 33 32
  • 88.66 (n)
OneToOne
Selenoi 17
rat
(Rattus norvegicus)
Mammalia Seli 32
  • 86.03 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia EPT1 33
  • 84 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia EPT1 33
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves EPT1 33 32
  • 75.32 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia EPT1 33
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ept1 32
  • 70.06 (n)
Str.6538 32
African clawed frog
(Xenopus laevis)
Amphibia Xl.9928 32
zebrafish
(Danio rerio)
Actinopterygii EPT1 33
  • 71 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008881 32
  • 51.52 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG33116 33 32
  • 49.66 (n)
OneToMany
CG7149 33
  • 40 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea CELE_F54D7.2 32
  • 48.03 (n)
F54D7.2 33
  • 40 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes EPT1 33
  • 25 (a)
ManyToMany
CPT1 33
  • 23 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 33
  • 46 (a)
OneToMany
-- 33
  • 34 (a)
OneToMany
Cin.14326 32
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.14326 32
Species where no ortholog for SELENOI was found in the sources mined by GeneCards:
  • 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 SELENOI Gene

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

Paralogs for SELENOI Gene

Paralogs for SELENOI Gene

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

Variants for SELENOI Gene

Sequence variations from dbSNP and Humsavar for SELENOI Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs1000155034 -- 26,380,352(+) T/C intron_variant
rs1000159687 -- 26,393,160(+) G/A 3_prime_UTR_variant, non_coding_transcript_variant
rs1000201217 -- 26,345,974(+) C/T upstream_transcript_variant
rs1000227522 -- 26,376,532(+) A/G intron_variant
rs1000250235 -- 26,379,269(+) A/G intron_variant

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

Variant ID Type Subtype PubMed ID
esv33316 CNV loss 17666407
esv3590118 CNV loss 21293372
esv3590119 CNV loss 21293372
nsv2650 CNV insertion 18451855
nsv508832 CNV insertion 20534489

Variation tolerance for SELENOI 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)

Additional Variant Information for SELENOI Gene

Human Gene Mutation Database (HGMD)
SELENOI
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SELENOI

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SELENOI Gene

Disorders for SELENOI Gene

MalaCards: The human disease database

(1) MalaCards diseases for SELENOI Gene - From: Orphanet

Disorder Aliases PubMed IDs
autosomal recessive complex spastic paraplegia due to kennedy pathway dysfunction
  • autosomal recessive complex spg due to kennedy pathway dysfunction
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for SELENOI

genes like me logo Genes that share disorders with SELENOI: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SELENOI Gene

Publications for SELENOI Gene

  1. Identification and characterization of human ethanolaminephosphotransferase1. (PMID: 17132865) Horibata Y … Hirabayashi Y (Journal of lipid research 2007) 2 3 4 23 56
  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 research : an international journal for rapid publication of reports on genes and genomes 2000) 2 3 4 56
  3. A mutation of EPT1 (SELENOI) underlies a new disorder of Kennedy pathway phospholipid biosynthesis. (PMID: 28052917) Ahmed MY … Crosby AH (Brain : a journal of neurology 2017) 2 3 56
  4. Characterization of mammalian selenoproteomes. (PMID: 12775843) Kryukov GV … Gladyshev VN (Science (New York, N.Y.) 2003) 3 4 56
  5. RNA-binding activity of TRIM25 is mediated by its PRY/SPRY domain and is required for ubiquitination. (PMID: 29117863) Choudhury NR … Michlewski G (BMC biology 2017) 3 56

Products for SELENOI Gene

Sources for SELENOI Gene