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FLASH GENE
Symbol ARL6 contributors: shn - updated : 29-08-2017
HGNC name ADP-ribosylation factor-like 6
HGNC id 13210
Corresponding disease
BBS3 Bardet-Biedl syndrome 3
Location 3q11.2      Physical location : 97.483.594 - 97.517.369
Synonym name
  • Bardet-Biedl syndrome 3 protein
  • ARF-like 6
  • Synonym symbol(s) BBS3, RP55, MGC32934
    DNA
    TYPE functioning gene
    STRUCTURE 33.80 kb     9 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Map cen - D3S1251 - D3S3619 - ARL6 - D3S1752 - D3S1603 - qter
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    9 splicing 1408 21.1 186 - 2004 15258860
    9 splicing 1368 21.1 186 - 2004 15258860
  • encoding the same protein
  • differing in the 5' UTR compared to variant 1
  • 10 splicing - - 193 predominantly expressed in eye 2010 20333246
  • inclusion of a 13 base pair exon and a shift in the open reading frame generating different C-terminal regions
  • BBS3L transcript is required for proper retinal function and organization
  • BBS3L protein product plays an important role in eye structure and function
  • EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrain   predominantly
    Urinarykidney   predominantly
    Visualeyeretinafovea  
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialbarrier lining   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Respiratoryepithelial cell
    Visualcone photoreceptor
    Visualganglion cell
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    interspecies ortholog to Arl6, Mus musculus
    ortholog to Arl6, Rattus norvegicus
    ortholog to ARL6, Pan troglodytes
    ortholog to arl6, Danio rerio
    Homologene
    FAMILY
  • small GTPase superfamily
  • Arf family
  • CATEGORY enzyme , regulatory , transport carrier
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
    text
  • ciliated neurons
  • membrane association increased following exposure to GTP-gammaS
  • found in a ring-like pattern at the distal end of the basal body and most proximal region of the ciliary axoneme
  • basic FUNCTION
  • involved in protein transport, membrane trafficking or cell signaling during hematopoietic maturation
  • required for the localization of G protein-coupled receptors to primary cilia on central neurons
  • having a small monomeric GTPase activity
  • involved in planar cell polarity
  • mediate LEPR trafficking and impaired LEPR signaling underlies energy imbalance in the disease
  • role in mammalian ciliary (dis)assembly and Wnt signaling
  • modulating membrane trafficking at the base of the ciliary organelle
  • targets the BBSome to cilia when GTP bound and recruits the BBSome to membranes to assemble a polymerized coat
  • play a central role in the regulation of the actin cytoskeleton and control the cilia length through alteration of RHOA levels
  • IFT27 separates from IFT-B inside cilia to promote ARL6 activation, BBSome coat assembly, and subsequent ciliary exit
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS cellular trafficking transport
    PATHWAY
    metabolism
    signaling signal transduction
    a component
    INTERACTION
    DNA
    RNA
    small molecule nucleotide,
  • GTP
  • protein
  • SEC61beta
  • IFT27 directly interacts with the nucleotide-free form of ARL6
  • cell & other
    REGULATION
    induced by erythropoietin-induced maturation of J2E cells
    repressed by interleukin 6-induced differentiation of M1 monoblastoid cells
    ASSOCIATED DISORDERS
    corresponding disease(s) BBS3
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • oligonucleotide knockdown in zebrafish results in the cardinal features of BBS in zebrafish, including defects to the ciliated Kupffer's Vesicle and delayed retrograde melanosome transpor
  • Bbs3L-null mouse presents disruption of the normal photoreceptor architecture