• Gene id: 10390

Gene Summary

• Gene Symbol: CEPT1   Gene   UCSC   Ensembl
• Gene name: choline/ethanolamine phosphotransferase 1
• Alternate names: choline/ethanolaminephosphotransferase 1,
• Gene location: 1p13.3 (111139382: 111185103)     Exons: 13     NC_000001.11
• Gene summary(Entrez): This gene codes for a choline/ethanolaminephosphotransferase, which functions in the synthesis of choline- or ethanolamine- containing phospholipids. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2016]
• OMIM: 616751

Protein Summary

• Protein general information: Q9Y6K0  
  • Name: Choline/ethanolaminephosphotransferase 1 (hCEPT1) (EC 2.7.8.1) (EC 2.7.8.2)
  • Length: 416  
  • Mass: 46554
  • Tissue specificity: Ubiquitously expressed. {ECO
• Sequence:

  MSGHRSTRKRCGDSHPESPVGFGHMSTTGCVLNKLFQLPTPPLSRHQLKRLEEHRYQSAGRSLLEPLMQGYWEWL
  VRRVPSWIAPNLITIIGLSINICTTILLVFYCPTATEQAPLWAYIACACGLFIYQSLDAIDGKQARRTNSSSPLG
  ELFDHGCDSLSTVFVVLGTCIAVQLGTNPDWMFFCCFAGTFMFYCAHWQTYVSGTLRFGIIDVTEVQIFIIIMHL
  LAVIGGPPFWQSMIPVLNIQMKIFPALCTVAGTIFSCTNYFRVIFTGGVGKNGSTIAGTSVLSPFLHIGSVITLA
  AMIYKKSAVQLFEKHPCLYILTFGFVSAKITNKLVVAHMTKSEMHLHDTAFIGPALLFLDQYFNSFIDEYIVLWI
  ALVFSFFDLIRYCVSVCNQIASHLHIHVFRIKVSTAHSNHH

• Structural information:
  • Interpro: IPR000462  IPR014472  
  • Prosite: PS00379
  • STRING: ENSP00000441980
• Other Databases: GeneCards:  CEPT1  Malacards:  CEPT1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016780	phosphotransferase activity, for other substituted phosphate groups	IBA	molecular function
GO:0006646	phosphatidylethanolamine biosynthetic process	IBA	biological process
GO:0005794	Golgi apparatus	IBA	cellular component
GO:0005789	endoplasmic reticulum membrane	IBA	cellular component
GO:0004307	ethanolaminephosphotransferase activity	IBA	molecular function
GO:0004142	diacylglycerol cholinephosphotransferase activity	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:0046872	metal ion binding	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016740	transferase activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0008654	phospholipid biosynthetic process	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0006629	lipid metabolic process	IEA	biological process
GO:0004307	ethanolaminephosphotransferase activity	TAS	molecular function
GO:0006629	lipid metabolic process	TAS	biological process
GO:0016021	integral component of membrane	TAS	cellular component
GO:0004307	ethanolaminephosphotransferase activity	IEA	molecular function
GO:0004142	diacylglycerol cholinephosphotransferase activity	IEA	molecular function
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0006646	phosphatidylethanolamine biosynthetic process	TAS	biological process
GO:0006656	phosphatidylcholine biosynthetic process	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0006656	phosphatidylcholine biosynthetic process	IEA	biological process
GO:0016780	phosphotransferase activity, for other substituted phosphate groups	IEA	molecular function
GO:0031965	nuclear membrane	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0006657	CDP-choline pathway	IEA	biological process
GO:0006657	CDP-choline pathway	IEA	biological process
GO:0006646	phosphatidylethanolamine biosynthetic process	IEA	biological process
GO:0006656	phosphatidylcholine 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
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)