Gene Symbol: PCYT1A
Description: phosphate cytidylyltransferase 1, choline, alpha
Alias: CCTA, CTA, CTPCT, PCYT1, SMDCRD, choline-phosphate cytidylyltransferase A, CCT A, CCT-alpha, CT A, CTP:phosphocholine cytidylyltransferase A, phosphorylcholine transferase A
Species: human
Products:     PCYT1A

Top Publications

  1. Lykidis A, Baburina I, Jackowski S. Distribution of CTP:phosphocholine cytidylyltransferase (CCT) isoforms. Identification of a new CCTbeta splice variant. J Biol Chem. 1999;274:26992-7001 pubmed
  2. Cornell R, Taneva S, Dennis M, Tse R, Dhillon R, Lee J. Disease-linked mutations in the phosphatidylcholine regulatory enzyme CCTα impair enzymatic activity and fold stability. J Biol Chem. 2019;294:1490-1501 pubmed publisher
    ..Mutations in the gene encoding CCTα (PCYT1A) cause three distinct pathologies in humans: lipodystrophy, spondylometaphyseal dysplasia with cone-rod ..
  3. Zhou Y, Zhou Z, Batistel F, Martínez Cortés I, Pate R, Luchini D, et al. Methionine and choline supply alter transmethylation, transsulfuration, and cytidine 5'-diphosphocholine pathways to different extents in isolated primary liver cells from dairy cows. J Dairy Sci. 2018;101:11384-11395 pubmed publisher
    ..Abundance of choline kinase α (CHKA), choline kinase β (CHKB), phosphate cytidylyltransferase 1 α (PCYT1A), and choline/ethanolamine phosphotransferase 1 (CEPT1) in the CDP-choline pathway was greater in PHEP treated ..
  4. Chernus J, Roosenboom J, Ford M, Lee M, Emanuele B, Anderton J, et al. GWAS reveals loci associated with velopharyngeal dysfunction. Sci Rep. 2018;8:8470 pubmed publisher
    ..to be involved in orofacial clefting and craniofacial development are located in these regions, such as TFRC, PCYT1A, BNC2 and FREM1...
  5. Wortmann S, Espeel M, Almeida L, Reimer A, Bosboom D, Roels F, et al. Inborn errors of metabolism in the biosynthesis and remodelling of phospholipids. J Inherit Metab Dis. 2015;38:99-110 pubmed publisher
    ..type 28, 54 and 56 (HSP28, DDHD1; HSP54, DDHD2; HSP56, CYP2U1), Lenz Majewski syndrome (PTDSS1), spondylometaphyseal dysplasia with cone-rod dystrophy (PCYT1A), atypical haemolytic-uremic syndrome due to DGKE deficiency (DGKE).
  6. Chmurzynska A, Seremak Mrozikiewicz A, Malinowska A, Rozycka A, Radziejewska A, Szwengiel A, et al. PEMT rs12325817 and PCYT1A rs7639752 polymorphisms are associated with betaine but not choline concentrations in pregnant women. Nutr Res. 2018;56:61-70 pubmed publisher
    ..lower betaine concentrations were observed in the GG homozygotes of PEMT rs12325817 and in the GG homozygotes of PCYT1A rs7639752 than in the respective minor allele carriers...
  7. Haider A, Wei Y, Lim K, Barbosa A, Liu C, Weber U, et al. PCYT1A Regulates Phosphatidylcholine Homeostasis from the Inner Nuclear Membrane in Response to Membrane Stored Curvature Elastic Stress. Dev Cell. 2018;45:481-495.e8 pubmed publisher
    ..Here we show that PCYT1A, the rate-limiting enzyme of PC synthesis, is intranuclear and re-locates to the nuclear membrane in response to ..
  8. Lee J, Ridgway N. Phosphatidylcholine synthesis regulates triglyceride storage and chylomicron secretion by Caco2 cells. J Lipid Res. 2018;: pubmed publisher
    ..we used a model of intestinal-derived human epithelial colorectal adenocarcinoma (Caco2) cells with knockout of PCYT1A, which encodes the rate-limiting enzyme CTP:phosphocholine cytidylyltransferase ? (CCT?) in the CDP-choline ..
  9. Drews K, Rozycka A, Barlik M, Klejewski A, Kurzawinska G, Wolski H, et al. Polymorphic variants of genes involved in choline pathway and the risk of intrauterine fetal death. Ginekol Pol. 2017;88:205-211 pubmed publisher
    ..g. CHKA (gene encoding choline kinase ?), PCYT1A (gene encoding CCT?) and CHDH (gene encoding choline dehydrogenase)...

More Information


  1. Xiong J, Wang L, Fei X, Jiang X, Zheng Z, Zhao Y, et al. MYC is a positive regulator of choline metabolism and impedes mitophagy-dependent necroptosis in diffuse large B-cell lymphoma. Blood Cancer J. 2017;7:e0 pubmed publisher
    ..choline metabolism by transcriptionally activating the key enzyme phosphate cytidylyltransferase 1 choline-? (PCYT1A)...
  2. McGillick E, Orgeig S, Morrison J. Regulation of lung maturation by prolyl hydroxylase domain inhibition in the lung of the normally grown and placentally restricted fetus in late gestation. Am J Physiol Regul Integr Comp Physiol. 2016;310:R1226-43 pubmed publisher
    ..lung liquid reabsorption (SCNN1-A, ATP1-A1, AQP-1, AQP-5), and surfactant maturation (SFTP-A, SFTP-B, SFTP-C, PCYT1A, LPCAT, ABCA3, LAMP3) in control fetuses...
  3. Lemos M, Chiaia H, Berton M, Feitosa F, Aboujaoud C, Camargo G, et al. Genome-wide association between single nucleotide polymorphisms with beef fatty acid profile in Nellore cattle using the single step procedure. BMC Genomics. 2016;17:213 pubmed publisher
    ..The identification of such regions and the respective candidate genes, such as ELOVL5, ESSRG, PCYT1A and genes of the ABC group (ABC5, ABC6 and ABC10), should contribute to form a genetic basis of the fatty acid ..
  4. Yang J, Wang J, Tseu I, Kuliszewski M, Lee W, Post M. Identification of an 11-residue portion of CTP-phosphocholine cytidylyltransferase that is required for enzyme-membrane interactions. Biochem J. 1997;325 ( Pt 1):29-38 pubmed
    ..These results suggest that the CT region located between residues 267 and 277 from the N-terminus is required for the interaction of CT with membranes. ..
  5. Enaw J, Zhu H, Yang W, Lu W, Shaw G, Lammer E, et al. CHKA and PCYT1A gene polymorphisms, choline intake and spina bifida risk in a California population. BMC Med. 2006;4:36 pubmed
    ..nucleotide polymorphisms (SNPs) in human choline kinase A (CHKA) gene and CTP:phosphocholine cytidylytransferase (PCYT1A) gene were risk factors for spina bifida...
  6. Li L, Shen L, She H, Yue S, Feng D, Luo Z. Nitric oxide-induced activation of NF-?B-mediated NMDA-induced CTP:phosphocholine cytidylyltransferase alpha expression inhibition in A549 cells. Cell Biol Toxicol. 2011;27:41-7 pubmed publisher
    ..Our results provided important clues for further elucidating the mechanisms underlying glutamate-induced lung injury. ..
  7. Yamamoto G, Baratela W, Almeida T, Lazar M, Afonso C, Oyamada M, et al. Mutations in PCYT1A cause spondylometaphyseal dysplasia with cone-rod dystrophy. Am J Hum Genet. 2014;94:113-9 pubmed publisher
    ..affected by this disorder from two Brazilian families identified two previously unreported homozygous mutations in PCYT1A. This gene encodes the alpha isoform of the phosphate cytidylyltransferase 1 choline enzyme, which is responsible ..
  8. Testa F, Filippelli M, Brunetti Pierri R, Di Fruscio G, Di Iorio V, Pizzo M, et al. Mutations in the PCYT1A gene are responsible for isolated forms of retinal dystrophy. Eur J Hum Genet. 2017;25:651-655 pubmed publisher
    Mutations in the PCYT1A gene have been recently linked to two different phenotypes: one characterized by spondylometaphyseal dysplasia and cone-rod dystrophy (SMD-CRD) and the other by congenital lipodystrophy, severe fatty liver disease, ..
  9. Payne F, Lim K, Girousse A, Brown R, Kory N, Robbins A, et al. Mutations disrupting the Kennedy phosphatidylcholine pathway in humans with congenital lipodystrophy and fatty liver disease. Proc Natl Acad Sci U S A. 2014;111:8901-6 pubmed publisher
    ..in the Kennedy pathway due to biallellic loss-of-function mutations in phosphate cytidylyltransferase 1 alpha (PCYT1A), the rate-limiting enzyme in this pathway...
  10. Lagace T, Miller J, Ridgway N. Caspase processing and nuclear export of CTP:phosphocholine cytidylyltransferase alpha during farnesol-induced apoptosis. Mol Cell Biol. 2002;22:4851-62 pubmed
    CTP:phosphocholine cytidylyltransferase alpha (CCT alpha) is a nuclear enzyme that catalyzes the rate-limiting step in the CDP-choline pathway, the primary route for synthesis of phosphatidylcholine (PtdCho) in eukaryotic cells...
  11. Hunt A, Normand C, Postle A. CTP:cholinephosphate cytidylyltransferase in human and rat lung: association in vitro with cytoskeletal actin. Biochim Biophys Acta. 1990;1043:19-26 pubmed
    ..We propose that some reported cytidylyltransferase translocation phenomena may be mediated by cytoskeletal interactions in vitro. ..
  12. Cornell R, Ridgway N. CTP:phosphocholine cytidylyltransferase: Function, regulation, and structure of an amphitropic enzyme required for membrane biogenesis. Prog Lipid Res. 2015;59:147-71 pubmed publisher
    ..Recently the genetic origins of two human developmental and lipogenesis disorders have been traced to mutations in the gene for CCTα. ..
  13. Hoover Fong J, Sobreira N, Jurgens J, Modaff P, Blout C, Moser A, et al. Mutations in PCYT1A, encoding a key regulator of phosphatidylcholine metabolism, cause spondylometaphyseal dysplasia with cone-rod dystrophy. Am J Hum Genet. 2014;94:105-12 pubmed publisher
  14. Mostowska A, Hozyasz K, Biedziak B, Misiak J, Jagodzinski P. Polymorphisms located in the region containing BHMT and BHMT2 genes as maternal protective factors for orofacial clefts. Eur J Oral Sci. 2010;118:325-32 pubmed publisher
    ..CHDH), choline kinase (CHKA), dimethylglycine dehydrogenase (DMGDH), choline-phosphate cytidylyltransferase A (PCYT1A), and phosphatidylethanolamine N-methyltransferase (PEMT) provided evidence that polymorphisms located in the ..
  15. Weinhold P, Feldman D. Fatty acids promote the formation of complexes between choline-phosphate cytidylyltransferase and cytidylyltransferase binding protein. Arch Biochem Biophys. 1995;318:147-56 pubmed
    ..Complex formation at 4 degrees C was specifically promoted by long-chain, unsaturated fatty acids. These results suggest that CTBP may be involved in the fatty acid-induced translocation of cytidylyltransferase. ..
  16. Vance J, Vance D. Does rat liver Golgi have the capacity to synthesize phospholipids for lipoprotein secretion?. J Biol Chem. 1988;263:5898-909 pubmed
    ..Synthesis of phosphatidylethanolamine via decarboxylation of phosphatidylserine does not appear to occur in Golgi. ..
  17. Cheng M, Chang K, Wu Y, Chen C. Metabolic disturbances in plasma as biomarkers for Huntington's disease. J Nutr Biochem. 2016;31:38-44 pubmed publisher
    ..The results showed down-regulation of PCYT1A and increased activity of phospholipase A2 in HD leukocytes...
  18. Mostowska A, Hozyasz K, Wojcicki P, Dziegelewska M, Jagodzinski P. Associations of folate and choline metabolism gene polymorphisms with orofacial clefts. J Med Genet. 2010;47:809-15 pubmed publisher
    ..0420 to 0.4995; p=0.0005; p(corr)=0.008). It was also demonstrated that the rs7639752 polymorphism of the PCYT1A gene increases the risk of NCL/P nearly twofold in the Polish population (OR 1.891, 95% CI 1.151 to 3.107; p=0...
  19. Xie M, Smith J, Ding Z, Zhang D, Cornell R. Membrane binding modulates the quaternary structure of CTP:phosphocholine cytidylyltransferase. J Biol Chem. 2004;279:28817-25 pubmed
    ..We mapped the intersubunit disulfide bond to the cystine 37 pair in domain N and showed that this disulfide is sensitive to anionic vesicles, implicating this specific region in the membrane-sensitive dimer interface. ..
  20. Arnold R, DePaoli Roach A, Cornell R. Binding of CTP:phosphocholine cytidylyltransferase to lipid vesicles: diacylglycerol and enzyme dephosphorylation increase the affinity for negatively charged membranes. Biochemistry. 1997;36:6149-56 pubmed
    ..We propose a mechanism whereby dephosphorylation on the domain adjacent to the membrane binding domain increases the affinity of the latter for a negatively charged membrane surface. ..
  21. Dunne S, Cornell R, Johnson J, Glover N, Tracey A. Structure of the membrane binding domain of CTP:phosphocholine cytidylyltransferase. Biochemistry. 1996;35:11975-84 pubmed
    ..The disposition of these side chains gives clues to the basis for the specificities of these peptides for anionic surfaces. ..
  22. Johnson J, Cornell R. Membrane-binding amphipathic alpha-helical peptide derived from CTP:phosphocholine cytidylyltransferase. Biochemistry. 1994;33:4327-35 pubmed
    ..Dibromo-PC significantly quenched the fluorescence only when present in anionic vesicles, confirming the membrane location of the tryptophan residue and the lipid specificity of this interaction.(ABSTRACT TRUNCATED AT 250 WORDS) ..
  23. Kalmar G, Kay R, LaChance A, Cornell R. Primary structure and expression of a human CTP:phosphocholine cytidylyltransferase. Biochim Biophys Acta. 1994;1219:328-34 pubmed
    ..The activity of HCT was lipid dependent. The soluble form was activated 3 to 4-fold by anionic phospholipids and by oleic acid or diacylglycerol-containing PC vesicles. ..