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FLASH GENE
Symbol GEMIN6 contributors: SGE/npt - updated : 01-01-2010
HGNC name gem (nuclear organelle) associated protein 6
HGNC id 20044
Location 2p22.1      Physical location : 39.005.326 - 39.009.104
Synonym name gemin 6
Synonym symbol(s) FLJ23459, SIP2
DNA
TYPE functioning gene
STRUCTURE 3.78 kb     3 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
3 - 705 16 167 - -
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveliver   highly
Urinarykidney   highly
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
conjugated PhosphoP
mono polymer heteromer , complex
HOMOLOGY
interspecies homolog to murine Gemin6 (86.1pc)
homolog to rattus Gemin6 (83.1pc)
Homologene
FAMILY
CATEGORY RNA associated
SUBCELLULAR LOCALIZATION     intracellular
intracellular,cytoplasm
intracellular,nucleus,nucleoplasm,nuclear bodies,coiled bodies (Cajal)
text subnuclear structures next to coiled bodies called gems
basic FUNCTION
  • playing a role in the cytoplasmic assembly of small nuclear ribonucleoproteins (sn RNPs)
  • playing a rolein pre m-RNA splicing
  • playing a role in the assembly of transcriptosomes
  • CELLULAR PROCESS nucleotide, RNA splicing
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • component of the SMN complex with SMN1, GEMIN2, GEMIN3, GEMIN4, GEMIN5, GEMIN7, GEMIN8 and UNRIP
  • spliceosomal subunit
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with several Sm proteins of the spliceosomal SnRNPs
  • interacts directly with GEMIN7, SNRPB, SNRPD2, SNRPD3, SNRPE
  • interacting specifically and avidly with proteins that make up the heptameric core of spliceosomal snRNPs (Pellizzoni 2002)
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
    Variant & Polymorphism
    Candidate gene for non-SMN motor neuron disease
    Marker
    Therapy target
    ANIMAL & CELL MODELS