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FLASH GENE
Symbol RABGAP1L contributors: - updated : 28-02-2006
HGNC name RAB GTPase activating protein 1-like
HGNC id 24663
Location 1q24      Physical location : 174.128.633 - 174.927.326
Synonym name
  • related to C elegans, cosmid F35H12, 50kDa
  • Synonym symbol(s) KIAA0471, HHL, TBC1D18, EVI5
    DNA
    TYPE functioning gene
    STRUCTURE 798.00 kb     29 Exon(s)
    motif repetitive sequence   ALU
    text structure
  • containing an Alu element in the 3-prime UTR
  • MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    - splicing 2940 92 815 - -
    - splicing 787 8 72 - -
  • missing a lot of 5' non-coding and coding exons, which result in translation initiation from a novel exon compared to variant 1
  • EXPRESSION
    Type ubiquitous
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    blood / hematopoieticspleen    
    Cardiovascularheart   moderately
    Digestiveintestinesmall intestine  highly
     intestinelarge intestinecolon moderately
     liver   moderately
     mouthtongue  highly
     stomach   highly
    Lymphoid/Immunelymph node   highly
     thymus   highly
    Nervousbrain   moderately
    Reproductivefemale systemplacenta  highly
     female systembreastmammary gland highly
     female systemuterus  moderately
     male systemtestis  highly
    Respiratoryrespiratory tractlarynx  moderately
    Urinarykidney   moderately
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Lymphoid    
    Muscularstriatumskeletal  
    Nervousperipherous   
    cell lineage
    cell lines
    fluid/secretion blood
    at STAGE
    physiological period pregnancy
    Text placenta
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a PTB domain
  • HOMOLOGY
    interspecies homolog to C.elegans cosmid F35H12
    ortholog to murine Rabgap1l
    ortholog to chicken rabgap1l
    Homologene
    FAMILY
    CATEGORY unknown/unspecified
    SUBCELLULAR LOCALIZATION extracellular
        intracellular
    intracellular,cytoplasm
    intracellular,nucleus
    basic FUNCTION unknown
    CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    in Alzheimer disease
    tumoral     --over  
    upregulated in esophageal squamous cell carcinomas showing nodal invasion
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS