• Gene id: 85465

Gene Summary

• Gene Symbol: SELENOI   Gene   UCSC   Ensembl
• Aliases: EPT1, SELI, SEPI, SPG81
• Gene name: selenoprotein I
• Alternate names: ethanolaminephosphotransferase 1, ethanolaminephosphotransferase 1 (CDP-ethanolamine-specific), hEPT1,
• Gene location: 2p23.3 (26346142: 26395884)     Exons: 10     NC_000002.12
• Gene summary(Entrez): 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, whic
• OMIM: 610397

Protein Summary

• Protein general information: Q9C0D9  
  • Name: Ethanolaminephosphotransferase 1 (hEPT1) (EC 2.7.8.1) (Selenoprotein I) (SelI)
  • Length: 397  
  • Mass: 45229
  • 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. {ECO
• Sequence:

  MAGYEYVSPEQLAGFDKYKYSAVDTNPLSLYVMHPFWNTIVKVFPTWLAPNLITFSGFLLVVFNFLLMAYFDPDF
  YASAPGHKHVPDWVWIVVGILNFVAYTLDGVDGKQARRTNSSTPLGELFDHGLDSWSCVYFVVTVYSIFGRGSTG
  VSVFVLYLLLWVVLFSFILSHWEKYNTGILFLPWGYDISQVTISFVYIVTAVVGVEAWYEPFLFNFLYRDLFTAM
  IIGCALCVTLPMSLLNFFRSYKNNTLKLNSVYEAMVPLFSPCLLFILSTAWILWSPSDILELHPRVFYFMVGTAF
  ANSTCQLIVCQMSSTRCPTLNWLLVPLFLVVLVVNLGVASYVESILLYTLTTAFTLAHIHYGVRVVKQLSSHFQI
  YPFSLRKPNSDULGMEEKNIGL

• Structural information:
  • Interpro: IPR000462  IPR014472  
  • Prosite: PS00379
  • STRING: ENSP00000260585
• Other Databases: GeneCards:  SELENOI  Malacards:  SELENOI

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004307	ethanolaminephosphotransferase activity	IBA	molecular function
GO:0005789	endoplasmic reticulum membrane	IBA	cellular component
GO:0005794	Golgi apparatus	IBA	cellular component
GO:0006646	phosphatidylethanolamine biosynthetic process	IBA	biological process
GO:0016780	phosphotransferase activity, for other substituted phosphate groups	IBA	molecular function
GO:0016780	phosphotransferase activity, for other substituted phosphate groups	IEA	molecular function
GO:0008654	phospholipid biosynthetic process	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016740	transferase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0008654	phospholipid biosynthetic process	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0006629	lipid metabolic process	IEA	biological process
GO:0004307	ethanolaminephosphotransferase activity	IEA	molecular function
GO:0004307	ethanolaminephosphotransferase activity	IDA	molecular function
GO:0006646	phosphatidylethanolamine biosynthetic process	IDA	biological process
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0006646	phosphatidylethanolamine biosynthetic process	TAS	biological process
GO:0016020	membrane	IEA	cellular component
GO:0006646	phosphatidylethanolamine biosynthetic process	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00564	Glycerophospholipid metabolism
hsa00565	Ether lipid metabolism
hsa00440	Phosphonate and phosphinate metabolism

Diseases

Associated diseases	References
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray