• Gene id: 5130

Gene Summary

• Gene Symbol: PCYT1A   Gene   UCSC   Ensembl
• Aliases: CCTA, CT, CTA, CTPCT, PCYT1, SMDCRD
• Gene name: phosphate cytidylyltransferase 1, choline, alpha
• Alternate names: choline-phosphate cytidylyltransferase A, CCT A, CCT-alpha, CT A, CTP:phosphocholine cytidylyltransferase A, phosphorylcholine transferase A,
• Gene location: 3q29 (196287725: 196234367)     Exons: 10     NC_000003.12
• Gene summary(Entrez): This gene belongs to the cytidylyltransferase family and is involved in the regulation of phosphatidylcholine biosynthesis. Mutations in this gene are associated with spondylometaphyseal dysplasia with cone-rod dystrophy. Alternatively spliced transcript
• OMIM: 610052

Protein Summary

• Protein general information: P49585  
  • Name: Choline phosphate cytidylyltransferase A (EC 2.7.7.15) (CCT alpha) (CTP:phosphocholine cytidylyltransferase A) (CCT A) (CT A) (Phosphorylcholine transferase A)
  • Length: 367  
  • Mass: 41731
• Sequence:

  MDAQCSAKVNARKRRKEAPGPNGATEEDGVPSKVQRCAVGLRQPAPFSDEIEVDFSKPYVRVTMEEASRGTPCER
  PVRVYADGIFDLFHSGHARALMQAKNLFPNTYLIVGVCSDELTHNFKGFTVMNENERYDAVQHCRYVDEVVRNAP
  WTLTPEFLAEHRIDFVAHDDIPYSSAGSDDVYKHIKEAGMFAPTQRTEGISTSDIITRIVRDYDVYARRNLQRGY
  TAKELNVSFINEKKYHLQERVDKVKKKVKDVEEKSKEFVQKVEEKSIDLIQKWEEKSREFIGSFLEMFGPEGALK
  HMLKEGKGRMLQAISPKQSPSSSPTRERSPSPSFRWPFSGKTSPPCSPANLSRHKAAAYDISEDEED

• Structural information:
  • Interpro: IPR041723  IPR004821  IPR014729  
  • CDD: cd02174
  • STRING: ENSP00000292823
• Other Databases: GeneCards:  PCYT1A  Malacards:  PCYT1A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004105	choline-phosphate cytidylyltransferase activity	IBA	molecular function
GO:0005783	endoplasmic reticulum	IBA	cellular component
GO:0031210	phosphatidylcholine binding	IBA	molecular function
GO:0005737	cytoplasm	IBA	cellular component
GO:0004105	choline-phosphate cytidylyltransferase activity	ISS	molecular function
GO:0006657	CDP-choline pathway	ISS	biological process
GO:0009058	biosynthetic process	IEA	biological process
GO:0003824	catalytic activity	IEA	molecular function
GO:0016779	nucleotidyltransferase activity	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0008654	phospholipid biosynthetic process	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0006629	lipid metabolic process	IEA	biological process
GO:0004105	choline-phosphate cytidylyltransferase activity	TAS	molecular function
GO:0004105	choline-phosphate cytidylyltransferase activity	IEA	molecular function
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0006656	phosphatidylcholine biosynthetic process	TAS	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0042803	protein homodimerization activity	IEA	molecular function
GO:0031210	phosphatidylcholine binding	IEA	molecular function
GO:0008289	lipid binding	IEA	molecular function
GO:0006656	phosphatidylcholine biosynthetic process	IEA	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005516	calmodulin binding	IEA	molecular function
GO:0004105	choline-phosphate cytidylyltransferase activity	IEA	molecular function
GO:0042587	glycogen granule	IEA	cellular component
GO:0006656	phosphatidylcholine biosynthetic process	IEA	biological process
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0006657	CDP-choline pathway	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005635	nuclear envelope	IEA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0006656	phosphatidylcholine biosynthetic process	IEA	biological process
GO:0042587	glycogen granule	ISS	cellular component
GO:0006656	phosphatidylcholine biosynthetic process	ISS	biological process
GO:0005789	endoplasmic reticulum membrane	ISS	cellular component

KEGG pathways

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

Diseases

Associated diseases	References
Spondylometaphyseal dysplasia with cone-rod dystrophy	KEGG:H01821
Spondylometaphyseal dysplasia with cone-rod dystrophy	KEGG:H01821
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R