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FLASH GENE
Symbol RALGAPA1 contributors: mct/npt - updated : 05-03-2020
HGNC name Ral GTPase activating protein, alpha subunit 1 (catalytic)
HGNC id 17770
Corresponding disease
NEDHRIT neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation
Location 14q13.2      Physical location : 36.007.558 - 36.278.432
Synonym name
  • tuberin-like protein gene 1
  • GTPase activating RANGAP domain-like 1
  • GTPase activating Rap/RanGAP domain-like 1
  • GAP-related interacting protein to E12
  • Synonym symbol(s) GRIPE, KIAA0884, TULIP1, GARNL1, DKFZp667F074, RalGAPalpha1, DKFZp566D133
    DNA
    TYPE functioning gene
    STRUCTURE 270.09 kb     41 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    41 splicing 7882 - 2036 - Schwartzbraun, Shimojima (2009)
    40 splicing 7851 - 2083 - Schwartzbraun, Shimojima (2009)
    splicing variant without exon 40
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver   highly
    Lymphoid/Immunelymph node    
    Nervousbrain   predominantly Homo sapiens
    Reproductivefemale systemovary    Homo sapiens
     female systemuterus    Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a Rap/ran-GAP domain
  • two putative coiled-coil domains
  • a putative leucine zipper
  • two trans- membrane domains
  • HOMOLOGY
    interspecies ortholog to murine Tulip1
    intraspecies homolog to tuberin
    Homologene
    FAMILY
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria
    intracellular,nucleus
    text imported from the cytoplasm into the nucleus upon binding to full-length E12
    basic FUNCTION
  • GTPase activity responsible for the activation of Ras-regulated regulatory protein
  • might be associated with the idiopathic developmental delay and epilepsy (Shimojima 2009)
  • importance of RALGAPA1 for neuronal development and differentiation
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binds to HLH region of transcription factor E12
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) NEDHRIT
    Susceptibility
    Variant & Polymorphism
    Candidate gene candidate gene for developmental delay (Shimojima 2009)
    Marker
    Therapy target
    ANIMAL & CELL MODELS