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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
    Physical map
    FLJ35155 3q29 hypothetical protein FLJ35155 CENTB2 3q29 centaurin, beta 2 PPP1R2 3q29 protein phosphatase 1, regulatory (inhibitor) subunit 2 LOC391606 3 similar to ribosomal protein L24 LOC255812 3q29 hypothetical protein LOC255812 LOC389187 3 LOC389187 MUC20 3q29 mucin 20 MUC4 3q29 mucin 4, tracheobronchial LOC285253 3q29 similar to SPBPJ4664.02 ACK1 3q29 activated Cdc42-associated kinase 1 LOC391607 3 hypothetical gene supported by AJ271448; NM_174907 LOC375386 3q29 similar to Succinate dehydrogenase [ubiquinone] flavoprotein subunit, mitochondrial precursor (Fp) (Flavoprotein subunit of complex II) LOC391608 3 hypothetical gene supported by AJ271448; NM_174907 TFRC 3q29 transferrin receptor (p90, CD71) ZDHHC19 3q29 zinc finger, DHHC domain containing 19 OSTalpha 3q29 organic solute transporter alpha PCYT1A 3q21-q28 phosphate cytidylyltransferase 1, choline, alpha isoform MGC33212 3q29 hypothetical protein MGC33212 LOC116211 3q29 hypothetical protein BC013113 KIAA0794 3q29 hypothetical protein BC013113 LOC389188 3 LOC389188 FLJ35794 3q29 hypothetical protein FLJ35794 LOC255798 3q29 hypothetical protein LOC255798 MGC64882 3q29 hypothetical protein MGC64882 LOC200933 3q29 hypothetical protein LOC200933 LOC389189 3 LOC389189 UNQ3030 3q29 ELLP3030 MGC14126 3q29 hypothetical protein MGC14126 FLJ20522 3q29 hypothetical protein FLJ20522 PAK2 3q29 p21 (CDKN1A)-activated kinase 2 MGC27076 3q29 hypothetical protein MGC27076 NCBP2 3q29 nuclear cap binding protein subunit 2, 20kDa LOC152217 3q29 hypothetical protein BC007882 SMP3 3q29 SMP3 mannosyltransferase LOC389190 3 similar to 40S ribosomal protein SA (P40) (34/67 kDa laminin receptor) (Colon carcinoma laminin-binding protein) (NEM/1CHD4) (Multidrug resistance-associated protein MGr1-Ag) MFI2 3q28-q29 antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5 LOC391609 3 similar to immediate early protein homolog DLG1 3q29 discs, large (Drosophila) homolog 1 LOC391610 3 LOC391610 BDH 3q29 3-hydroxybutyrate dehydrogenase (heart, mitochondrial)
    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