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FLASH GENE
Symbol ATP2C1 contributors: mct - updated : 20-11-2018
HGNC name ATPase, Ca++ transporting, type 2C, member 1
HGNC id 13211
Corresponding disease
BCPM benign chronic pemphigus with acantholysis
Location 3q22.1      Physical location : 130.613.433 - 130.735.553
Synonym name
  • ATP-dependent Ca(2+) pump PMR1
  • ATPase, Ca(2+)-sequestering
  • calcium-transporting ATPase 2C1
  • secretory pathway Ca2+/Mn2+ ATPase
  • Synonym symbol(s) HHD, PMR1, ATP2C1A, KIAA1347, PMR1L, SPCA1, hSPCA1, HUSSY-28
    EC.number 3.6.3.8
    DNA
    TYPE functioning gene
    STRUCTURE 134.34 kb     28 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Map cen - D3S1589 - RHO - ATP2C1 - D3S1587 - D3S3548 - D3S1541 - D3S1292 - D3S3514 - D3S1596 - D3S3076 - pter
    Authors Hu (00)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    27 - 4763 100.6 919 - 2003 14632183
    28 splicing 3484 - 989 - 2003 14632183
    same expression in pattern
    27 - 3389 - 888 - 2003 14632183
    28 - 3514 - 949 - 2003 14632183
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrineneuroendocrinepituitary  highly
     parathyroid   highly
    Reproductivemale systemprostate  highly
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Skin/Tegumentkeratinocyte
    cell lineage epidermal cells of the basal layer
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    interspecies homolog to yeast calcium pump Pmr1
    intraspecies homolog to ATP2C2 (64 p100)
    Homologene
    FAMILY
  • P-type cation transport ATPases family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,Golgi
    text
  • mostly excluded from the cores of the Golgi cisternae and is instead located mainly on the lateral rims of Golgi stacks, in tubular noncompact zones that interconnect different Golgi stacks, and within tubular parts of the trans Golgi network
  • basic FUNCTION
  • sequestering calcium into the Golgi in yeast
  • catalyzing the hydrolysis of ATP coupled with the transport of the calcium
  • playing an important role in homeostatic maintenance throughout the secretory pathway
  • in the Golgi apparatus where it is actively involved in the transport of Ca(2+) or Mn(2+) from the cytosol to the Golgi lumen
  • importance of its function for normal neural differentiation
  • important role in Golgi homeostasis of Ca(2+)
  • in spermatozoa, appears to play a major role in the regulation of cytosolic calcium transients
  • correct SPCA1 functioning is crucial to intra-Golgi transport and maintenance of the Golgi ribbon
  • have important roles in the mammary gland and likely contribute to the secretion of calcium into milk
  • key regulator of IGF1R processing in basal breast cancer cells
  • P-type pump that transports Mn(2+) from the cytosol into the Golgi
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • CFL1 is required for actin and P-type ATPase secretory pathway calcium ATPase (ATP2C1)-dependent sorting of secretory proteins at the trans-Golgi network (TGN)
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) BCPM
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional somatic mutation LOH    
    loss of allele in more severely affected segmental skin regions of chronic pemphigus
    constitutional       loss of function
    renders cells hypersensitive to ER stress
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancerreproductivebreast
    ATP2C1 modulation and regulation of Golgi calcium transport may provide a unique opportunity for therapeutic targeting of this important pathway in breast cancer
    ANIMAL & CELL MODELS