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FLASH GENE
Symbol RER1 contributors: mct - updated : 15-03-2018
HGNC name RER1 retention in endoplasmic reticulum 1 homolog (S. cerevisiae)
HGNC id 30309
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
HOMOLOGY
interspecies homolog to murine Rer1
Homologene
FAMILY RER1 family
CATEGORY transport
SUBCELLULAR LOCALIZATION     plasma membrane
    intracellular
intracellular,cytoplasm,organelle,membrane
intracellular,cytoplasm,organelle,Golgi
basic FUNCTION
  • involved in the retrieval of endoplasmic reticulum membrane proteins from the early Golgi compartment
  • RER1, a putative Golgi-ER retrieval receptor, is involved in the biogenesis of acetylcholine receptors
  • is the first endoplasmic reticulum/cis-Golgi-localized membrane protein involved in ciliogenesis
  • regulates the ER retention of immature or misfolded rhodopsin and modulates its intracellular trafficking through the early secretory pathway
  • is a sorting receptor in the early secretory pathway that controls the assembly and the cell surface transport of selected multimeric membrane protein complexes
  • is a novel and potential important mediator of elevated SNCA levels
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS cellular trafficking transport
    text
  • retrograde transport, Golgi to ER
  • PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • downregulation of RER1 leads to increased surface localization of PSENEN, whereas overexpression of RER1 stabilizes unassembled PSENEN
  • RER1 regulates the trafficking of gamma-secretase and APP
  • is a functionally important unique factor that controls surface expression of muscle acetylcholine receptors by localizing unassembled alpha-subunits to the early secretory pathway
  • RER1 depletion reduced ciliary length and function by increasing gamma-secretase complex assembly and activity and, consequently, enhancing NOTCH1 signaling as well as reducing FOXJ1 expression
  • controls the assembly and transport of SCN1A, SCN8A, the principal sodium channels responsible for recurrent firing, in Purkinje cell (PC)
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional       loss of function
    loss of RER1 resulted in the shortening of cilium and impairment of its motile or sensory function, which was reflected by hearing, vision, and left-right asymmetry defects as well as decreased Hedgehog signaling
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS