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FLASH GENE
Symbol SMCR8 contributors: mct - updated : 07-05-2024
HGNC name SMCR8-C9orf72 complex subunit
HGNC id 17921
Location 17p11.2      Physical location : 18.218.593 - 18.231.369
Synonym name
  • Smith-Magenis syndrome chromosome region, candidate 8
    • Synonym symbol(s) DENND8A, FLJ34716, FLJ60657
    DNA
    TYPE functioning gene
    STRUCTURE 12.76 kb     2 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Map see SMCR (phenotype)
    RNA
    TRANSCRIPTS type messenger
    text several
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    2 - 8297 - 937 - 2023 38064514
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    Text widely
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a N terminal domain of the LBP/BPI/CETP family, involved in lipid binding
  • a DENN domain, which has been shown to regulate the activities of small GTPases
    • HOMOLOGY
    interspecies homolog to murine Smcr8
    Homologene
    FAMILY LBP/BPI/CETP family
    CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    intracellular,nucleus,nucleoplasm
    intracellular,nucleus,chromatin/chromosome
    basic FUNCTION
  • SMCR8, the folliculin interacting protein-1 and 2 (FNIP1 and FNIP2), nitrogen permease regulator 2 (NPRL2), and NPRL3 are proposed to function in recruiting Rab GTPases during different steps of autophagy, fusion of autophagosomes with the vacuole and regulation of cellular metabolism
  • C9ORF72 and SMCR8 have similar functions in modulating autophagy induction by regulating ULK1 and play distinct roles in regulating autophagic flux
  • C9ORF72 and SMCR8 have interdependent functions in suppressing autoimmunity as well as negatively regulating lysosomal exocytosis-processes of potential importance to ALS
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • key role of SMCR8 in regulating MTOR and AKT1 signaling and tissue homeostasis
  • a stable complex, consisting of C9orf72, SMCR8, and WDR41, has been implicated in regulating membrane trafficking and macroautophagy
  • C9orf72-SMCR8 is a GTPase-activating protein (GAP), and we found that C9orf72-SMCR8-WDR41 acts as a GAP for the ARF family of small GTPases
  • C9orf72 protein interacts with SMCR8 and WDR41 to form a trimeric complex and regulates multiple cellular pathways including autophagy.
  • C9orf72 binds SMCR8 to form a robust complex that regulates small GTPases, lysosomal integrity, and autophagy, and SMCR8 prevents C9orf72 from rapid degradation by the proteasome
  • C9orf72-SMCR8 complex negatively regulates primary ciliogenesis and hedgehog (HH) signaling
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    ANIMAL & CELL MODELS