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FLASH GENE
Symbol GPKOW contributors: mct - updated : 16-09-2019
HGNC name G patch domain and KOW motifs
HGNC id 30677
Corresponding disease
MCPH26 microcephaly 26 primary
Location Xp11.23      Physical location : 48.969.021 - 48.980.079
Synonym name
  • protein T54
  • G patch domain and KOW motifs-containing protein
  • protein MOS2 homolog
    Synonym symbol(s) T54, GPATC5, GPATCH5, Mos2, Spp2
    DNA
    TYPE functioning gene
    STRUCTURE 11.15 kb     11 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    11 - 1658 - 476 - 2014 25296192
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrineneuroendocrinepituitary   
    Reproductivefemale systemuteruscervix  
    cell lineage
    cell lines
    fluid/secretion blood
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a G-patch domain and two KOW domains
  • two KOW motifs of human GPKOW span the amino acids 240 through 267 and 415 through 442
  • three nucleic acid binding domains
  • secondary structure
  • G-patch domain of GPKOW forms two alpha-helixes that are capable of binding single-stranded RNA and DNA as well as proteins
  • HOMOLOGY
    interspecies homolog to Saccharomyces Spp2
    homolog to murine Gpkow (77.4pc)
    Homologene
    FAMILY
    CATEGORY unknown/unspecified
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    intracellular,nucleus,nucleoplasm
    text
  • is found in the human spliceosome
  • evenly distributed in the nucleus, but excluded from the nucleoli
  • basic FUNCTION
  • is a RNA-binding protein that binds RNA in a PRKAA regulated fashion
  • GPKOW can functionally impact DHX16 but that interaction between the proteins is not required for this activity
  • is essential for fetal development
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA RNA- binding protein
    small molecule other,
    protein
  • during step 1 of splicing, PRPF8 interactions with SF3b proteins are replaced by SLU7, positioning this second step factor close to the active site, and that the DEAH-box helicases DHX16 and DHX38 cooperate through ordered interactions with GPKOW (PMIDl:
  • GPKOW interacted directly with the DHX16/hPRP2 and with RNA
  • acts as an essential cofactor for the two DEAH-box helicases, DHX16 and DHX38, which sequentially catalyze the key transesterification reactions
  • cell & other
    REGULATION
    Other GPKOW ability to bind RNA is regulated by PRKACA-dependent phosphorylation at two sites
    ASSOCIATED DISORDERS
    corresponding disease(s) MCPH26
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS