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FLASH GENE
Symbol GEMIN8 contributors: mct - updated : 11-02-2015
HGNC name gem (nuclear organelle) associated protein 8
HGNC id 26044
Location Xp22.2      Physical location : 14.024.845 - 14.048.035
Synonym name
  • protein FAM51A1
  • family with sequence similarity 51, member A1
  • Gem-associated protein 8
  • expressed sequence 59, on chromosome X
  • Synonym symbol(s) FLJ20514, FLJ43072, FAM51A1, DXS1112E, XE59
    DNA
    TYPE functioning gene
    STRUCTURE 23.21 kb     5 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    5 - 3171 28 242 - 2006 17023415
    4 - 3089 28 242 - 2006 17023415
    5 - 3259 28 242 - 2006 17023415
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Digestivesalivary gland   predominantly
    Endocrineparathyroid    
    cell lineage
    cell lines
    fluid/secretion lymph
    at STAGE
    physiological period embryo
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    mono polymer heteromer , complex
    HOMOLOGY
    interspecies homolog to rattus FAM51A1 (69.9pc)
    Homologene
    FAMILY
    CATEGORY chaperone/stress
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,nucleus,nucleoplasm
    basic FUNCTION
  • involved in the assembly of spliceosomal small nuclear ribonucleoproteins (snRNPs)
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • forming an heteromeric subunit of the SMN complex in association with Gemin6-Gemin7 heterodimer
  • integral component of the SMN complex and extend the repertoire of cellular proteins involved in the pathway of snRNP biogenesis
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • SMN complex and its component GEMIN8 interact directly with protein phosphatase PPP1CC
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    neuromuscularspinal muscular atrophy 
    GEMIN8 interaction with PPP1CC is a target for therapeutic intervention in SMA
    ANIMAL & CELL MODELS