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FLASH GENE
Symbol SGSM1 contributors: mct - updated : 29-09-2017
HGNC name small G protein signaling modulator 1
HGNC id 29410
Location 22q11.23      Physical location : 25.202.135 - 25.322.813
Synonym name
  • RUN and TBC1 domain containing 2
  • Synonym symbol(s) KIAA1941, MGC133298, RUTBC2, Nuip
    DNA
    TYPE functioning gene
    STRUCTURE 120.68 kb     26 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    26 - 6201 - 1148 - 2007 17509819
    25 - 6018 - 1087 - 2007 17509819
    25 - 6036 - 1093 - 2007 17509819
    24 - 5853 - 1032 - 2007 17509819
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Endocrineparathyroid    
     thyroid    
    Nervousbrainforebraincerebral cortex   Mus musculus
     brainlimbic systemhippocampus   Mus musculus
     brainhindbraincerebellum   Mus musculus
     brainmidbrainsubstantia nigra   Mus musculus
    Reproductivemale systemtestis   
    Visualeye    
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousdopaminergic neuron Mus musculus
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    Text in later stages of development
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N-terminal RUN domain (RPIP8, UNC-14, and NESCA)
  • RAPID motifs
  • a C-terminal TBC domain (Tre-2, Bub2, and Cdc16) both of which are found in proteins of the GTPase activating protein (GAP) family, involved in the GTPase signaling pathway
  • HOMOLOGY
    Homologene
    FAMILY SGSM family
    CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,Golgi
    intracellular,cytoplasm,cytosolic
    basic FUNCTION
  • modulator of RAP and RAB-mediated cellular signaling
  • modulator of the small G protein RAP and RAB-mediated neuronal signal transduction and vesicular transportation pathways
  • may be involved in motor activity control in basal ganglia as well as higher central nervous system (CNS) functions such as cognition and memory in cortex and hippocampus
  • can act as a RAB36 GAP in cells, suggesting that it links RAB9A function to RAB36 function in the endosomal system
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interact with RAP family proteins via novel RAP interacting domain (RAPID) motif
  • modulate the transcriptional activity of NURR1, the orphan nuclear receptor required for midbrain dopaminergic neuron differentiation
  • interact with several members of RAB family
  • TBC domain-containing protein that binds to RAB9A specifically
  • membrane-associated SGSM1 co-localizes with RAB36, and expression of SGSM1, decreases the amount of membrane-associated RAB36 protein
  • RAB9B can bind to SGSM1 probably in a similar manner as RAB9A
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    ANIMAL & CELL MODELS