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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
Corresponding disease
MSS Marinesco-Sjogren syndrome
Location 5q31.2      Physical location : 138.282.411 - 138.534.065
Synonym name
  • BiP-associated protein
  • endoplasmic reticulum chaperone SIL1, homolog of yeast
  • SIL1 protein
  • Synonym symbol(s) BAP, ULG5
    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
    Physical map
    PKD2L2 5q31 polycystic kidney disease 2-like 2 C5orf5 5q31 chromosome 5 open reading frame 5 WNT8A 5q31 wingless-type MMTV integration site family, member 8A NME5 5q31.1 non-metastatic cells 5, protein expressed in (nucleoside-diphosphate kinase) BRD8 5q31.2 bromodomain containing 8 KIF20A 5q31 kinesin family member 20A CDC23 5q31.1 CDC23 (cell division cycle 23, yeast, homolog) GFRA3 5q31.1-q31.3 GDNF family receptor alpha 3 CDC25C 5q31 cell division cycle 25C C5orf6 5q31 chromosome 5 open reading frame 6 C5orf7 5q31 chromosome 5 open reading frame 7 LOC51308 5q31 SGC32445 protein EGR1 5q31.1 early growth response 1 ETF1 5q31.1 eukaryotic translation termination factor 1 HSPA9B 5q31.1 heat shock 70kDa protein 9B (mortalin-2) LOC391836 5 similar to ribosomal protein L10a CTNNA1 5q31.1 catenin (cadherin-associated protein), alpha 1, 102kDa LRRTM2 5q31.3 catenin (cadherin-associated protein), alpha 1, 102kDa SIL1 5q31 endoplasmic reticulum chaperone SIL1, homolog of yeast MATR3 5q31.1-q31.3 matrin 3 PAIP2 5q31.1-q31.3 matrin 3 SLC23A1 20p13 solute carrier family 23 (nucleobase transporters), member 1 PACAP 5q23-5q31 proapoptotic caspase adaptor protein LOC389333 5 LOC389333 LOC389334 5 LOC389334 LOC202051 5q31.3 hypothetical protein LOC202051 MGC29463 5q31.3 hypothetical protein MGC29463 LOC340061 5q31.3 hypothetical protein LOC340061 UBE2D2 5q31.3 ubiquitin-conjugating enzyme E2D 2 (UBC4/5 homolog, yeast) HSPC195 5q31.3 hypothetical protein HSPC195 DKFZp761B0514 5q31.3 hypothetical protein DKFZp761B0514 NRG2 5q23-q33 neuregulin 2
    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