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FLASH GENE
Symbol PCYT1A contributors: mct - updated : 22-01-2014
HGNC name phosphate cytidylyltransferase 1, choline, alpha isoform
HGNC id 8754
Corresponding disease
SMDCRD spondylometaphyseal dysplasia (SMD) with cone-rod dystrophy
Location 3q29      Physical location : 195.965.257 - 196.014.584
Synonym name
  • choline-phosphate cytidylyltransferase A
  • phosphorylcholine transferase A
  • CTP:phosphocholine cytidylyltransferase A
  • Synonym symbol(s) CCTA, CT, CTPCT, PCYT1
    EC.number 2.7.7.15
    DNA
    TYPE functioning gene
    STRUCTURE 53.38 kb     10 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked   status tentative : very preliminary evidence
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    10 - 1677 - 367 - 2014 24387991
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a 73 AA N-terminal domain containing the nuclear localizing signal,
  • a 163 AA catalytic domain,
  • a 64 AA membrane-binding M domain
  • a C-terminal 67 AA unordered domain with multiple AAs that undergo phosphorylation
  • HOMOLOGY
    Homologene
    FAMILY
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,cytosolic
    intracellular,nucleus
    text
  • localized in the nucleus in cells transiting the S phase, whereas it is localized in the cytoplasm of G(0)-arrested cells, suggesting a specific role of nuclear PCYT1A during the S phase
  • basic FUNCTION
  • CTP phosphocholine cytidyltransferase
  • regulator of phosphatidylcholine
  • not required for the proliferation or differentiation of lung epithelia but was essential for the secretory component of phospholipid synthesis and critical for the proper formation of lamellar bodies and surfactant protein homeostasis
  • plays an essential role in all processes that require membrane biosynthesis such as cell proliferation and viability
  • amphitropic enzyme that catalyzes the synthesis of CDP-choline from phosphocholine and CTP
  • responsible for converting phosphocholine into cytidine diphosphate-choline, a key intermediate step in the phosphatidylcholine biosynthesis pathway
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • PCYT1A nuclear import was associated with binding to YWHAZ, a key regulator of protein trafficking
  • E2F1 is necessary, but not sufficient, to activate PCYT1A expression when this factor is over-expressed
  • Calcium-calmodulin kinase I (CAMK1) cooperatively regulates nucleocytoplasmic shuttling of PCYT1A by accessing a nuclear export signal
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) SMDCRD
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • inability of CCTalpha-/- murine B-cells to undergo class switch recombination correlated with a proliferation defect in response to antigenic and mitogenic stimuli