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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
    Physical map
    LOC389137 3 similar to SVH-B LOC344620 3q11.2 similar to CG17293-PA LOC255025 3q11.2 hypothetical protein LOC255025 LOC285217 3q12.1 similar to heterogeneous nuclear ribonucleoprotein K isoform a; dC-stretch binding protein; transformation upregulated nuclear protein LOC391556 3 similar to Chromatin assembly factor 1 subunit C (CAF-1 subunit C) (Chromatin assembly factor I p48 subunit) (CAF-I 48 kDa subunit) (CAF-Ip48) (Retinoblastoma binding protein p48) (Retinoblastoma-binding protein 4) (RBBP-4) (MSI1 pr LOC391557 3 similar to KIAA1470 protein LOC200842 3q12.1 similar to hypothetical protein H41 LOC203806 3q12.1 hypothetical protein LOC203806 DKFZp434C1418 3q12.1 hypothetical protein DKFZp434C1418 ARL6 3q12.1 ADP-ribosylation factor-like 6 MINA53 3q12.1-q12.2 myc-induced nuclear antigen, 53 kDa LOC200959 3q12.2 similar to Gamma-aminobutyric-acid receptor rho-3 subunit precursor (GABA(A) receptor) LOC389138 3 similar to olfactory receptor GA_x54KRFPKG5P-55348161-55347241 OR5K1 3p26.1 olfactory receptor, family 5, subfamily K, member 1 LOC391558 3 similar to Olfactory receptor 5K2 C3orf4 3p11-q11 chromosome 3 open reading frame 4 GPR15 3q11.2-q13.1 G protein-coupled receptor 15 CPO 3q12 coproporphyrinogen oxidase (coproporphyria, harderoporphyria) LOC339843 3q12.2 similar to Nedd-4-like ubiquitin-protein ligase WWP1 (WW domain-containing protein 1) SIAT10 3q12.2 sialyltransferase 10 (alpha-2,3-sialyltransferase VI) ESDN 3q12.2 sialyltransferase 10 (alpha-2,3-sialyltransferase VI) COL8A1 3q12-q13.1 collagen, type VIII, alpha 1 LOC389139 3 LOC389139 MGC4308 3q12.3 hypothetical protein MGC4308 DOC1 3q12.2 hypothetical protein MGC4308 PRO0641 3q12.3 PRO0641 protein LOC391559 3 hypothetical gene supported by BC003142; NM_006370 FLJ11046 3q12.3 hypothetical protein FLJ11046 NIT2 3q12.3 hypothetical protein FLJ11046 TOMM70A 3q11-q13.1 translocase of outer mitochondrial membrane 70 homolog A (yeast) FLJ10134 3q12.3 hypothetical protein FLJ10134 GPR128 3q12.3 G protein-coupled receptor 128 TFG 3q11-q12 TRK-fused gene TARSH 3q12 target of Nesh-SH3 IMPG2 3q12.2-q12.3 interphotoreceptor matrix proteoglycan 2
    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