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
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