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FLASH GENE
Symbol ARL2BP contributors: mct/npt - updated : 07-12-2020
HGNC name ADP-ribosylation factor-like 2 binding protein
HGNC id 17146
Corresponding disease
RPSI retinitis pigmentosa with situs inversus (or not)
Location 16q13      Physical location : 57.279.037 - 57.287.545
Synonym name
  • Arf-like 2 binding protein BART1
  • binder of Arl Two
  • Synonym symbol(s) BART, BART1
    DNA
    TYPE functioning gene
    STRUCTURE 8.51 kb     6 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    6 - 2100 18.7 163 - 1999 10488091
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrain   predominantly Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal, pregnancy
    Text placenta, fetal spleen
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    secondary structure forms a novel fold composed of six alpha-helices that form three interlocking "L" shapes
    HOMOLOGY
    Homologene
    FAMILY
  • ARL2BP family
  • CATEGORY signaling
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,interspace
    intracellular,cytoplasm,cytosolic
    intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
    intracellular,cytoplasm,cytoskeleton,microtubule,mitotic spindle
    basic FUNCTION
  • could be acting to tether ARL2 to the mitochondrial membrane via its interaction with adenine nucleotide transporter isoform 1
  • centrosome-associated protein in a variety of mammalian cell lines
  • plays an essential role in the nuclear retention of STAT3 through interaction with ARL2
  • plays a role in inhibiting cell invasion by regulating the activity of the Rho GTPase protein RHOA in pancreatic cancer cells
  • increases active RHOA by inhibiting ARL2 function, which in turn inhibits invasiveness of cancer cells
  • regulates actin-cytoskeleton rearrangements at membrane ruffles through modulation of the activity of RAC1, which, in turn, inhibits pancreatic cancer cell invasion
  • role for ARL2BP and ARL2 in primary cilia function and that this role is essential for normal photoreceptor maintenance and function
  • plays an essential role in the retina, and show that this role is mediated in part by the ARL2BP-ARL2 interaction
  • is necessary for photoreceptor ciliary doublet formation and axoneme elongation, which is required for OS morphogenesis and vision
  • is required for the structural maintenance of cilia as well as of the sperm flagellum
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling signal transduction
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interact and act as a nuclear retention factor for transcription factor STAT3
  • STAT-binding partner (essential for the transcriptional activity and nuclear retention of STAT3)
  • G3BP1 binds to and degrades its mRNA
  • G3BP1 binds and degrades the mRNA of ARL2BP inhibiting retroperitoneal invasion and hepatic metastasis of pancreatic cancer cells
  • binds the same site in ARL2 as do the effectors UNC119 and PDE6D37 and would compete for binding to the activated GTPase
  • interaction between ARL2BP and ARL2 is important for recruitment or anchoring of ARL2BP at the basal body
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) RPSI
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional       loss of function
    leads to syndromic ciliopathy
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS