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FLASH GENE
Symbol ARL13B contributors: mct/npt - updated : 26-10-2018
HGNC name ADP-ribosylation factor-like 13B
HGNC id 25419
Corresponding disease
JBTS8 Joubert syndrome 8
Location 3q11.2      Physical location : 93.698.982 - 93.774.521
Synonym name
  • ADP-ribosylation factor-like 2-like 1
  • ARL2-like protein 1
  • Synonym symbol(s) ARL2L1, MGC120611, MGC120612, JBTS8, DKFZp761H079, DKFZp686M2074, DKFZp686L2472, DKFZp686E2075
    DNA
    TYPE functioning gene
    STRUCTURE 75.54 kb     11 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    11 - 3835 48 428 - 2017 28848045
    8 - 3670 36 321 - 2017 28848045
    10 - 3991 - 428 - 2017 28848045
    9 - 3920 - 325 - 2017 28848045
    11 - 3730 - 413 - 2017 28848045
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularvessel    
    Lymphoid/Immunelymph node    
     spleen    
    Visualeyeretina    Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivebone   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Visualcone photoreceptor Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • Arf-homologous GTP-binding motifs in the N terminus (N domain-dependent self-association may be important for its function in cilia biogenesis)
  • an extending large C-terminal region (C domain)
  • HOMOLOGY
    interspecies homolog to murine Arl2l1
    Homologene
    FAMILY
  • small GTPase superfamily
  • ADP-ribosylation factors (ARF) family
  • CATEGORY unknown/unspecified
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytoskeleton,microtubule
    basic FUNCTION
  • required for ciliogenesis, body axis formation, and renal function
  • being capable of self-associating via N domain, and overexpression of N domain inhibits not only cilia formation but also the maintenance of pre-generated cilia
  • conserved role for the SUMOylation modification of ciliary small GTPase ARL13B in specifically regulating the proper ciliary targeting of various sensory receptors
  • SUMOylated ARL13B is the key determinant in regulating the specific ciliary targeting of various sensory receptors
  • role for ARL13B in endocytic recycling traffic, suggesting a link between ARL13B function and the actin cytoskeleton
  • increases cilia length by inducing protrusion of the ciliary membrane, which is then followed by the extension of the axonemal microtubules
  • is an important effector of ciliary membrane biogenesis and ciliary length regulation
  • regulates cell migration and cell cycle progression
  • ARL13B regulates IFT-A-mediated retrograde protein trafficking within cilia through its interaction with INPP5E
  • is a membrane-associated G-protein that localizes along the cilium and functions in protein transport and signaling
  • function of ARL13B in anchoring ciliary membrane proteins to the axoneme through the direct interaction of its G-domain with tubulin
  • controls axoneme polyglutamylation, which is marginally required for cilia stability but essential for cilia signaling
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
  • ARL13B signaling in primary cilia is crucial for the initial formation of a polarized radial glial scaffold, suggesting that disruption of this process may contribute to aberrant neurodevelopment and brain abnormalities in Joubert syndrome-related ciliopathies
  • a component
    INTERACTION
    DNA
    RNA
    small molecule nucleotide,
  • GTP
  • protein
  • role for ARL13B in actin cytoskeleton remodeling through the interaction with MYH9, by driving the formation of circular dorsal ruffles (CDRs) necessary for cell migration
  • MKS1 functions in the transition zone at the base of the cilium to regulate ciliary INPP5E content, through an ARL13B-dependent mechanism
  • ARL13B is the GEF for ARL3, and GEF activity of ARL13B is mediated by the G-domain plus an additional C-terminal helix
  • ARL13B interacts with the IFT46 -: TTC26 dimer of the intraflagellar transport (IFT)-B complex, which mediates anterograde ciliary protein trafficking
  • ARL13B is a small GTPase that functions as a guanosine nucleotide exchange factor (GEF) for ARL3-GDP
  • hypoglutamylation caused by a deficient ARL13B-RAB11FIP5 trafficking pathway shows no effect on ciliogenesis, but promotes cilia disassembly and, importantly, impairs cilia signaling by disrupting the proper anchoring of sensory receptors and trafficking of signaling molecules
  • ERICH3 ciliary localisations require ARL13B and BBSome components (BBS5)
  • cell & other
    REGULATION
    Other palmitoylation plays a unique and critical role in controlling the localization, stability, abundance, and thus function of ARL13B
    ARL13B SUMOylation is not required for its ciliary targeting or ciliogenesis
    ASSOCIATED DISORDERS
    corresponding disease(s) JBTS8
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancerbrain 
    disruption of ARL13B inhibits cilia-dependent oncogenic SHH overactivation, causing 30p100 of Medulloblastoma (MB)
    ANIMAL & CELL MODELS