Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol ARL6 contributors: shn/mct - updated : 15-12-2020
HGNC name ADP-ribosylation factor-like 6
HGNC id 13210
Corresponding disease
BBS3 Bardet-Biedl syndrome 3
RP55 retinitis pigmentosa 55
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, BBS3L
    DNA
    TYPE functioning gene
    STRUCTURE 50.01 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 4353 21.1 186 - 2004 20333246
    9 splicing 4313 21.1 186 - 2004 20333246
  • encoding the same protein
  • differing in the 5' UTR compared to variant 1
  • 9 - 4001 - 193 in eye 2004 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
    8 - 3988 - 186 - 2004 20333246
    7 - 3932 - 159 - 2004 20333246
    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
  • is essential for flagellum biogenesis
  • 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
  • localizes at the base of primary cilium, controls ciliogenesis and HH signaling
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS cellular trafficking transport
    PATHWAY
    metabolism
    signaling signal transduction
    a component
    INTERACTION
    DNA
    RNA
    small molecule nucleotide,
  • GTP
  • protein
  • SEC61beta
  • ARL6 and BBS1 regulate the ciliary trafficking of PKD1
  • BBS1 with the M390R mutation, responsible for 30p100 of all reported BBS disease cases, fails to interact with ARL6-GTP
  • IFT27 directly interacts with the nucleotide-free form of ARL6
  • IFT-A complex and its membrane recruitment factor TULP3 complex promotes the entry of signaling receptors into cilia while the BBSome and its membrane recruitment factor ARL6GTP ferry activated signaling receptors out of cilia
  • ARL6-BBS1 interaction is reinforced by BBS9
  • 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 , RP55
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral       gain of function
    is significantly up regulated in cilia-dependent RMS cells and tissues
    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