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FLASH GENE
Symbol JPH1 contributors: - updated : 18-05-2005
HGNC name junctophilin 1
HGNC id 14201
Location 8q21      Physical location : 75.146.940 - 75.233.562
Synonym symbol(s) JP1, DKFZp762L0313
DNA
TYPE functioning gene
STRUCTURE 23.00 kb     4 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
EXPRESSION
Type
constitutive of
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart    
Digestivemouthtongue  lowly
Reproductivemale systemprostate   
Respiratoryrespiratory tractlarynx   
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Muscularstriatumcardiac  
Muscularstriatumskeletal  
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • C terminal hydrophobic segment spanning the ER/SR membrane
  • remaining cytoplasmic domain that shows affinity to the plasma membrane
  • seven MORN repeats
    • HOMOLOGY
    interspecies ortholog to chimpanzee LOC472796
    ortholog to murine Jph1
    Homologene
    FAMILY junctophilin family
    CATEGORY structural protein
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum ,rough,smooth
    basic FUNCTION
  • mediating cross-talk between cell surface and endoplasmic reticulum
    • CELLULAR PROCESS cell organization/biogenesis
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component component of the junctional membrane complexes
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    ANIMAL & CELL MODELS