• Gene id: 56994

Gene Summary

• Gene Symbol: CHPT1   Gene   UCSC   Ensembl
• Aliases: CPT, CPT1
• Gene name: choline phosphotransferase 1
• Alternate names: cholinephosphotransferase 1, AAPT1-like protein, cholinephosphotransferase 1 alpha, diacylglycerol cholinephosphotransferase 1, hCPT1, phosphatidylcholine synthesizing enzyme,
• Gene location: 12q23.2 (101697639: 101752037)     Exons: 14     NC_000012.12
• OMIM: 616747

SNPs

rs1237691411

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000012.12   g.101737863A>G
NC_000012.11   g.102131641A>G
NG_021181.1   g.6607T>C
NM_153694.4   c.73T>C
NM_001177949.2   c.73T>C
NM_001177949.1   c.73T>C
NM_001177948.1   c.73T>C
XM_005268922.5   c.313T>C
XM_005268922.1   c.313T>C
XM_005268926.4   c.73T>C
XM_005268926  

Protein Summary

• Protein general information: Q8WUD6  
  • Name: Cholinephosphotransferase 1 (hCPT1) (EC 2.7.8.2) (AAPT1 like protein) (Diacylglycerol cholinephosphotransferase 1)
  • Length: 406  
  • Mass: 45097
  • Tissue specificity: Highly expressed in testis, colon, small intestine, heart, prostate and spleen. Also detected in kidney, skeletal muscle, pancreas, leukocytes, ovary and thymus. Weakly expressed in the brain, placenta and lung. Overexpressed in cancer
• Sequence:

  MAAGAGAGSAPRWLRALSEPLSAAQLRRLEEHRYSAAGVSLLEPPLQLYWTWLLQWIPLWMAPNSITLLGLAVNV
  VTTLVLISYCPTATEEAPYWTYLLCALGLFIYQSLDAIDGKQARRTNSCSPLGELFDHGCDSLSTVFMAVGASIA
  ARLGTYPDWFFFCSFIGMFVFYCAHWQTYVSGMLRFGKVDVTEIQIALVIVFVLSAFGGATMWDYTIPILEIKLK
  ILPVLGFLGGVIFSCSNYFHVILHGGVGKNGSTIAGTSVLSPGLHIGLIIILAIMIYKKSATDVFEKHPCLYILM
  FGCVFAKVSQKLVVAHMTKSELYLQDTVFLGPGLLFLDQYFNNFIDEYVVLWMAMVISSFDMVIYFSALCLQISR
  HLHLNIFKTACHQAPEQVQVLSSKSHQNNMD

• Structural information:
  • Interpro: IPR000462  IPR014472  
  • Prosite: PS00379
  • STRING: ENSP00000229266
• Other Databases: GeneCards:  CHPT1  Malacards:  CHPT1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004142	diacylglycerol cholinephosphotransferase activity	IBA	molecular function
GO:0005789	endoplasmic reticulum membrane	IBA	cellular component
GO:0005794	Golgi apparatus	IBA	cellular component
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:0046872	metal ion binding	IEA	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0016740	transferase activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0008654	phospholipid biosynthetic process	IEA	biological process
GO:0006629	lipid metabolic process	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0006629	lipid metabolic process	TAS	biological process
GO:0004142	diacylglycerol cholinephosphotransferase activity	IEA	molecular function
GO:0000139	Golgi membrane	TAS	cellular component
GO:0006656	phosphatidylcholine biosynthetic process	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0000139	Golgi membrane	IEA	cellular component
GO:0006656	phosphatidylcholine biosynthetic process	IEA	biological process
GO:0006663	platelet activating factor biosynthetic process	IDA	biological process
GO:0004142	diacylglycerol cholinephosphotransferase activity	IDA	molecular function
GO:0006656	phosphatidylcholine biosynthetic process	IDA	biological process
GO:0019992	diacylglycerol binding	NAS	molecular function
GO:0043231	intracellular membrane-bounded organelle	NAS	cellular component
GO:0001558	regulation of cell growth	NAS	biological process
GO:0016020	membrane	NAS	cellular component
GO:0006657	CDP-choline pathway	NAS	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00564	Glycerophospholipid metabolism
hsa05231	Choline metabolism in cancer
hsa00565	Ether lipid metabolism
hsa00440	Phosphonate and phosphinate metabolism

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
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)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq