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FLASH GENE
Symbol SIL1 contributors: mct - updated : 15-02-2011
HGNC name SIL1 homolog, endoplasmic reticulum chaperone (S. cerevisiae)
HGNC id 24624
DNA
TYPE functioning gene
STRUCTURE 251.66 kb     11 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
11 - 1996 - 461 - 2006 17026626
10 - 1908 - 461 - 2006 17026626
EXPRESSION
Type ubiquitous
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveliver    
Nervousbrainhindbraincerebellum  
Respiratoryrespiratory tractlarynx  highly
Skin/Tegumentskin    
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period pregnancy
Text placenta
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • an N-terminal ER targeting sequence
  • 2 putative N-glycosylation sites
  • a C-terminal ER retention signal, and very C-terminal AAs of SIL1 play a role potential in its structural integrity rather than its localization
  • conjugated GlycoP
    HOMOLOGY
    Homologene
    FAMILY
  • SIL1 family
  • CATEGORY chaperone/stress , regulatory
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,organelle,Golgi
    text
  • wild-type protein could be detected in the Golgi as well as the ER
  • basic FUNCTION
  • ER protein, nucleotide exchange factor that regulates the ATPase activity of HSPA5
  • adenine nucleotide exchange factor of the essential ER lumen chaperone HSPA5 that senses ER stress and is involved in protein folding
  • facilitates the release of HSPA5 from unfolded protein substrates, enabling the subsequent folding and transport of the protein
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacts with the ATPase domain of BIP (HSPA5), cochaperone of HSPA5(first nucleotide exchange factor for HSPA5, binding to its ATPase domain in the ER lumen)
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MSS
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional       loss of function
    in neurodegeneration of cerebellar Purkinje cells
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS