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FLASH GENE
Symbol UNC119 contributors: mct/shn - updated : 31-08-2017
HGNC name unc-119 homolog (C. elegans)
HGNC id 12565
Corresponding disease
IMD13 Immunodeficiency 13
Location 17q11.2      Physical location : 26.873.724 - 26.879.646
Synonym name
  • unc119 (C.elegans) homolog
  • retinal protein 4
  • POC7 centriolar protein homolog A (Chlamydomonas)
  • POC7 centriolar protein homolog A
  • protein unc-119 homolog A
    • Synonym symbol(s) HRG4, RG4, POC7, POC7A, MRG4, UNC119a
    DNA
    TYPE functioning gene
    SPECIAL FEATURE arranged in tandem
    STRUCTURE 5.92 kb     5 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence scaffold attachement regions/matrix attachement regions
    MAPPING cloned Y linked   status confirmed
    Map cen - D17S1824 - D17S935 - UNC119 - D17S925 - D17S1873 - qter
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    5 splicing 1398 27 240 - 2003 12496276
    4 splicing 1665 - 220 - 2003 12496276
    - - 1461 - 145 - 2003 12496276
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrineadrenal gland   lowly Homo sapiens
    Nervousbrainhindbraincerebellum lowly Homo sapiens
    Urinarykidney   lowly Homo sapiens
    Visualeyeretina  specific Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Visualcone photoreceptor Homo sapiens
    Visualrod photoreceptor Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period embryo
    Text retina
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • rich in glycine and proline and in its proximal part
  • C-terminal domain of UNC119 sharing significant sequence and structural homology with PDE6D
    • HOMOLOGY
    interspecies homolog to C.elegans Unc119
    ortholog to Unc119, Mus musculus
    ortholog to Unc119, Rattus norvegicus
    ortholog to UNC119, pan troglodytes
    intraspecies paralog to PDE6D
    Homologene
    FAMILY
  • PDE6D/UNC119 family
    • CATEGORY adaptor , receptor
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
    intracellular,cytoplasm,cytoskeleton,microtubule,mitotic spindle
    text
  • expressed at high levels in photoreceptor ribbon synapses
  • CABP4 and UNC119 colocalized in the photoreceptor synapse of adult retina and during postnatal retinal development
  • localizes to the centrosome in interphase cells and begins to translocate from the spindle pole to the spindle midzone after the onset of mitosis
    • basic FUNCTION
  • receptor-associated activator of Src family tyrosine kinases
  • involved in the mechanism of photoreceptor neurotransmitter release through the synaptic vesicle cycle
  • role for UNC119 and CABP4 in neurotransmitter release and in the maintenance of the photoreceptor synapse
  • essential for vision and synaptic transmission at photoreceptor ribbon synapses
  • regulates myofibroblast differentiation through the activation of FYN and the MAPK14 pathway
  • orchestrates the recruitment of the actin-based motor protein, myosin 5B, and the organization of multiprotein complexes on endosomes
  • UNC119-regulated pathway is essential for immunological synapse formation and T cell activation
  • adaptor protein that is involved in the development of the vertebrate nervous system
  • role in clathrin- and caveolae-based endocytosis as well as macropinocytosis
  • regulates various endocytic pathways through dynamin and sets a threshold point for vesicular trafficking
  • playing an important role in fibrotic processes through myofibroblast differentiation
  • adapter signaling molecule, which regulates activation of tyrosine kinases in T cells, eosinophils and fibroblasts
  • activates the Src family and inhibits the Abl family of tyrosine kinases
  • essential for transducin transport in darkness
  • a G-alpha subunit cofactor essential for G protein trafficking in sensory cilia
  • may play conserved inhibitory role in regulation of GPCR-G protein signaling in non-visual tissues
  • in addition to transducin trafficking, may play important roles in regulation of vesicle and ciliary trafficking processes in photoreceptor cells
  • apart from its role as a cofactor of G-protein trafficking in ciliary sensory cells, may modulate signal transduction from GPCRs to G proteins in different cell types and tissues
  • UNC119/HRG4 is responsible for ciliary delivery of myristoylated cargo
  • promotes cell proliferation and growth through Wnt/CTNNB1 signaling
  • solubilising factor UNC119 sequesters myristoylated Src family protein tyrosine kinases (SFKs) to maintain its enrichment at the plasma membrane to enable signal transduction
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    text
  • may play an important role in vision
    • PATHWAY
    metabolism
    signaling neurotransmission
    synaptic transmission
    a component
  • synaptic ribbon-associated component
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • IL-5Ralpha and Src family tyrosine kinases
  • ADP-ribosylation factor-like protein 2, ARL2
  • interaction of CABP4 with UNC119
  • CTBP2-interacting protein at photoreceptor ribbon synapses (can be recruited to synaptic ribbons via its interaction with CTBP2)
  • interacts with dynamin, a key effector molecule of many endocytic processes (inhibits the GTPase activity of dynamin)
  • through inhibition of Abl kinases, dampens IFNG production
  • acylated G-alpha peptides, acylated Talpha N-terminal peptide, Talpha-GTP
  • interaction with transducin is dependent on the N-acylation, but does not require the GTP-bound form of GNAT1
  • bound the myristoylated N terminus of GNAT1 with much higher affinity than a prenylated substrate, and inhibit the GTPase activity of GNAT1
  • may inhibit GPCR-dependent activation of the Gi family G proteins
  • although ARL3 and ARL2 bind UNC119 with similar affinities, only ARL3 allosterically displaces cargo by accelerating its release by three orders of magnitude
  • as a dominant partner, GNAT1 may potentially modulate the function of other known UNC119-interacting proteins involved in photoreceptor ciliary trafficking and synaptic regulation, in a light-dependent manner
  • UNC119 interacts with a Src family kinase, FYN and is required for the activation of this kinase
  • plays a key role in the FYN signal transduction pathway, which regulates the completion of cytokinesis via RAB11A
  • in photoreceptors, ARL2 and ARL3 participate in the trafficking of lipidated membrane-associated proteins and colocalize in the inner segment with UNC119 and PDE6D
  • GNAT1, NPHP3, and PKD1 bind with high affinity to UNC119 whereas a peptide derived from a non-ciliary localizing protein (SRC) has low affinity
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) IMD13
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional germinal mutation      
    late onset cone rod dystrophy in a female heterozygous for a premature termination codon mutation
    constitutional     --other  
    enhanced in CD4 T cells from patients with asthma
    tumoral     --over  
    in hepatocellular carcinoma (HCC) tissues
    Susceptibility
    Variant & Polymorphism
    Candidate gene
  • a strong candidate gene for retinal diseases (
    • Marker
    Therapy target
    ANIMAL & CELL MODELS
  • transgenic mice carrying a premature termination codon mutation developed age-dependent fundus lesions with electroretinographic changes consistent with defects in photoreceptor synaptic transmission , and retinal degeneration (
  • reduction in proteins associated with synaptic vesicles and a possible compensatory increase in proteins involved in docking-exocytosis and endocytosis were observed in both the outer and inner plexiform layers of the retina of the transgenic HRG4 mouse model (
  • deletion of UNC119 gene in both mouse and C. elegans led to G protein mislocalization (