MGP Database

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MGP002222

UniProt Annotations

Entry Information
Gene Namephosphate cytidylyltransferase 1, choline, alpha
Protein EntryPCY1A_HUMAN
UniProt IDP49585
SpeciesHuman
Comments
Comment typeDescription
Catalytic ActivityCTP + phosphocholine = diphosphate + CDP- choline.
DiseaseSpondylometaphyseal dysplasia with cone-rod dystrophy (SMDCRD) [MIM:608940]: A disorder characterized by postnatal growth deficiency resulting in profound short stature, rhizomelia with bowing of the lower extremities, platyspondyly with anterior vertebral protrusions, progressive metaphyseal irregularity and cupping with shortened tubular bones, and early-onset progressive visual impairment associated with a pigmentary maculopathy and electroretinographic evidence of cone-rod dysfunction. {ECO:0000269|PubMed:24387990, ECO:0000269|PubMed:24387991}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Enzyme RegulationBy phosphorylation. {ECO:0000250}.
FunctionControls phosphatidylcholine synthesis.
PathwayPhospholipid metabolism; phosphatidylcholine biosynthesis; phosphatidylcholine from phosphocholine: step 1/2.
PtmMonoubiquitinated by the SCF(FBXL2) complex, leading to proteasomal degradation. {ECO:0000250}.
PtmThe serine residues of the C-terminus are phosphorylated. The inactive soluble form is stabilized by phosphorylation, the active membrane bound form is promoted by anionic lipids or diacylglycerol, and is stabilized by dephosphorylation (By similarity). {ECO:0000250}.
SimilarityBelongs to the cytidylyltransferase family. {ECO:0000305}.
Subcellular LocationCytoplasm, cytosol {ECO:0000250}. Membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}. Note=It can interconvert between an inactive cytosolic form and an active membrane-bound form. {ECO:0000250}.
SubunitHomodimer.
Web ResourceName=SeattleSNPs; URL="http://pga.gs.washington.edu/data/pcyt1a/";
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