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FLASH GENE
Symbol GEMIN4 contributors: mct/npt - updated : 07-03-2023
HGNC name gem (nuclear organelle) associated protein 4
HGNC id 15717
Corresponding disease
NEDMCR neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities
Location 17p13.3      Physical location : 647.660 - 655.501
Synonym name
  • gemin4
  • component of gems 4
  • hepatocellular carcinoma associated protein 1, variant of GEMIN4
  • HCC-associated protein 1
  • Synonym symbol(s) HHRF-1, HC56, p97, DKFZP434B131, HCAP1, DKFZP434D174, NEDMCR,
    DNA
    TYPE functioning gene
    STRUCTURE 7.84 kb     2 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
    2 - 3757 120 1058 - Lorson (2008)
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly
    Reproductivefemale systemuteruscervix highly
     male systemtestis  highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • canonical nuclear import sequence (NLS) in the N-terminus, AAs 194–243, that is necessary for its efficient nuclear import
  • one helix-loop-helix motif
  • one leucine zipper domain
  • three putative nuclear localization signal (NLS) motifs
  • mono polymer heteromer , complex
    HOMOLOGY
    interspecies homolog to C.elegans f41h10.4
    Homologene
    FAMILY
    CATEGORY RNA associated
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    intracellular,nucleus,nucleoplasm,nuclear bodies,coiled bodies (Cajal)
    intracellular,nucleus,nucleolus
    text
  • subnuclear structures next to coiled bodies called gems
  • GEMIN4 is also detected in the nucleoli, suggesting that the SMN complex may also function in preribosomal RNA processing or ribosome assembly
  • basic FUNCTION
  • multifunctional protein that is involved in U snRNP assembly, apoptosis, nuclear/cytoplasmic transportation, transcription
  • assembly of cytoplasmic SnRNPs
  • regeneration of nuclear spliceosomes
  • ribosome biogenesis
  • RNA processing modification
  • through the NLS, may play a functional role in the nuclear import of the U snRNPs
  • GEMIN4 and GEMIN8 orthologues are required for neuromuscular function and survival
  • plays an essential role in mammalian snRNP biogenesis, and may facilitate import of the SMN complex (or subunits thereof) into the nucleus
  • CELLULAR PROCESS nucleotide, RNA splicing
    PHYSIOLOGICAL PROCESS
    text rRNA processing
    PATHWAY
    metabolism
    signaling
    a component
  • core components of the Gemin-complex, which also contains survival motor neuron (SMN), the seven Gemin proteins (Gemin2–8), and STRAP
  • spliceosomal subunit
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • GEMIN2, GEMIN3, SMN, several SnRNP (Sm core proteins : SNRPB1, SNRPB2, SNRPD1, SNRPD2, SNRPD3 and SNRPDE)
  • tight interaction of GEMIN4 with DDX20 suggesting that it could serve as a cofactor of this DEAD box protein
  • GEMIN4 functions as a novel coregulator of the NR3C2
  • GEMIN4 is a direct interactor, capable of binding CAMKK2 and COPI subunits
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) NEDMCR
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral   LOI    
    in hepatocellular carcinoma
    Susceptibility
  • to hepatocellular carcinoma
  • to gastric cancer
  • Variant & Polymorphism SNP
  • allele HCAP1-M related to cancer susceptibility
  • SNP rs7813 (GEMIN4) were associated with susceptibility to gastric cancer
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS