• Gene id: 9468

Gene Summary

• Gene Symbol: PCYT1B   Gene   UCSC   Ensembl
• Aliases: CCTB, CTB
• Gene name: phosphate cytidylyltransferase 1, choline, beta
• Alternate names: choline-phosphate cytidylyltransferase B, CCT B, CCT-beta, CT B, CTP:phosphocholine cytidylyltransferase b, phosphorylcholine transferase B,
• Gene location: Xp22.11 (24672886: 24558086)     Exons: 10     NC_000023.11
• Gene summary(Entrez): The protein encoded by this gene belongs to the cytidylyltransferase family. It is involved in the regulation of phosphatidylcholine biosynthesis. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene.
• OMIM: 300948

SNPs

rs3212293

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

NC_000024.10   g.13479612C>G
NC_000024.10   g.13479612C>T
NC_000024.9   g.15591492C>G
NC_000024.9   g.15591492C>T
NM_007125.4   c.54G>C
NM_007125.4   c.54G>A
XM_006724875.4   c.54G>C
XM_006724875.4   c.54G>A
XM_005262518.4   c.54G>C
XM_005262518.4   c.54G>A
XM_005262518  

Protein Summary

• Protein general information: Q9Y5K3  
  • Name: Choline phosphate cytidylyltransferase B (EC 2.7.7.15) (CCT beta) (CTP:phosphocholine cytidylyltransferase B) (CCT B) (CT B) (Phosphorylcholine transferase B)
  • Length: 369  
  • Mass: 41940
  • Tissue specificity: Highly expressed in testis, placenta, brain, ovary and fetus.
• Sequence:

  MPVVTTDAESETGIPKSLSNEPPSETMEEIEHTCPQPRLTLTAPAPFADETNCQCQAPHEKLTIAQARLGTPADR
  PVRVYADGIFDLFHSGHARALMQAKTLFPNSYLLVGVCSDDLTHKFKGFTVMNEAERYEALRHCRYVDEVIRDAP
  WTLTPEFLEKHKIDFVAHDDIPYSSAGSDDVYKHIKEAGMFVPTQRTEGISTSDIITRIVRDYDVYARRNLQRGY
  TAKELNVSFINEKRYRFQNQVDKMKEKVKNVEERSKEFVNRVEEKSHDLIQKWEEKSREFIGNFLELFGPDGAWK
  QMFQERSSRMLQALSPKQSPVSSPTRSRSPSRSPSPTFSWLPLKTSPPSSPKAASASISSMSEGDEDEK

• Structural information:
  • Interpro: IPR041723  IPR004821  IPR014729  
  • CDD: cd02174
  • STRING: ENSP00000368439
• Other Databases: GeneCards:  PCYT1B  Malacards:  PCYT1B

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0031210	phosphatidylcholine binding	IBA	molecular function
GO:0004105	choline-phosphate cytidylyltransferase activity	IBA	molecular function
GO:0009058	biosynthetic process	IEA	biological process
GO:0003824	catalytic activity	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016740	transferase activity	IEA	molecular function
GO:0016779	nucleotidyltransferase activity	IEA	molecular function
GO:0008654	phospholipid biosynthetic process	IEA	biological process
GO:0006629	lipid metabolic process	IEA	biological process
GO:0004105	choline-phosphate cytidylyltransferase activity	TAS	molecular function
GO:0005737	cytoplasm	TAS	cellular component
GO:0006656	phosphatidylcholine biosynthetic process	TAS	biological process
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:0007283	spermatogenesis	IEA	biological process
GO:0001541	ovarian follicle development	IEA	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0006657	CDP-choline pathway	IEA	biological process
GO:0006657	CDP-choline pathway	IEA	biological process
GO:0006657	CDP-choline pathway	IEA	biological process
GO:0006656	phosphatidylcholine biosynthetic process	IEA	biological process

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
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray