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FLASH GENE
Symbol RAB40AL contributors: mct/npt - updated : 10-10-2017
HGNC name RAB40A, member RAS oncogene family-like
HGNC id 25410
Corresponding disease
MRXSMP Martin-Probst X-linked mental retardation syndrome
Location Xq22.1      Physical location : 102.192.199 - 102.193.227
Synonym name
  • Ras-like GTPase
  • SOCS box containing protein RAR2
  • Synonym symbol(s) RLGP, RAR2, MGC119958, MGC119959, MGC119960, MGC119961, MRXSMP
    DNA
    TYPE functioning gene
    STRUCTURE 1.03 kb     1 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    1 - 1029 31 278 - 2002 12145744
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart     Homo sapiensAdult
    Digestiveliver     Homo sapiensAdult
    Nervousbrain     Homo sapiensAdult
     brain     Homo sapiensFetal
    Respiratorylung     Homo sapiensAdult
    Urinarykidney     Homo sapiensAdult
     kidney     Homo sapiensFetal
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal   Homo sapiensAdult
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • one Ras-like GTPase
  • one SOCS domain
  • HOMOLOGY
    interspecies homolog to yeast S.cerevisiae Sec4
    intraspecies homolog to RAR2A
    Homologene
    FAMILY
  • small GTPase superfamily
  • Rab family
  • CATEGORY DNA associated
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,mitochondria
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endosome
    intracellular,cytoplasm,cytosolic,granule
    intracellular,nucleus
    basic FUNCTION
  • small Ras-like GTPase protein with one suppressor of cytokine signalling box
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MRXSMP
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS