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FLASH GENE
Symbol RAB28 contributors: mct - updated : 16-09-2013
HGNC name RAB28, member RAS oncogene family
HGNC id 9768
Corresponding disease
Location 4p15.33      Physical location : 13.369.346 - 13.485.989
Synonym name Ras-related protein Rab-28
Synonym symbol(s) Rab-26, MGC41862, CORD18
EC.number 3.6.5.1 /3.6.5.2 /3.6.5.3/ EC 3.6.5.4
DNA
TYPE functioning gene
STRUCTURE 116.64 kb     8 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
8 splicing 1827 24.9 220 - 2013 2374654
isoforms 1 and 2 are predicted to be farnesylated at their CAAX-motifs
7 splicing 1732 - 221 highest expression of variant 1 in lung, bone marrow, retinal pigment epithelium (RPE), and kidney 2013 2374654
  • isoforms 1 and 2 are predicted to be farnesylated at their CAAX-motifs
  • 8 - 1805 - 204 highest expression of variant 3 in heart, lung, bone marrow, retina, brain and RPE 2013 2374654
  • third isoform not containing a CAAX-motif and therefore cannot be prenylated
  • EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   lowly Homo sapiens
    Nervousbrain   predominantly Homo sapiens
    Reproductivemale systemtestis  predominantly Homo sapiens
    Visualeyeretina    Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal lowly Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Visualcone photoreceptor Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    conjugated LipoP , Other
    HOMOLOGY
    interspecies homolog to Drosophila EG:80H7.4
    homolog to C.elegans 4R79.2
    homolog to C.elegans Y11D7A.4
    Homologene
    FAMILY
  • small GTPase superfamily
  • Rab family
  • CATEGORY protooncogene
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,cytoskeleton,microtubule
    text
  • localization of RAB28 to the basal body and the ciliary rootlet of the photoreceptors
  • basic FUNCTION
  • involved in vesicle transport
  • GTPase activity
  • essential regulator of membrane trafficking
  • coordinates potentially the activity of retromer-dependent trafficking and ESCRT-mediated degradative pathways
  • regulator of NFKB1 nuclear transport, might participate in the disturbance of EC (endothelial cells) homeostasis
  • might be involved in ciliary transport in photoreceptor cells
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule nucleotide,
  • GTP
  • protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CORD28
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS