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FLASH GENE
Symbol RINT1 contributors: mct/npt - updated : 28-08-2019
HGNC name RAD50 interactor 1
HGNC id 21876
Corresponding disease
ALFSA acute liver failure with skeletal abnormalities
Location 7q22.3      Physical location : 105.172.531 - 105.208.124
Synonym name
  • Rad50-interacting protein 1
  • protein RINT-1
    • Synonym symbol(s) RINT-1, FLJ11785, DKFZp667H2324
    DNA
    TYPE functioning gene
    STRUCTURE 35.59 kb     15 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    15 - 2990 - 792 - 2007 17470549
    15 - 2996 - 451 - 2007 17470549
    15 - 2998 - 484 - 2007 17470549
    12 - 2519 - 451 - 2007 17470549
    15 - 2863 - 714 - 2007 17470549
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivemouthgingiva   
    Reproductivefemale systemuteruscervix highly
     male systemtestis  highly
    Skeletonappendicular skeletonjointsynovia  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a coiled-coil domain within its N-terminal 150 amino acids,
  • a conserved central domain of about 350 amino acids,
  • a C-terminal region of 90 amino acids
    • HOMOLOGY
    interspecies homolog to yeast Tip20
    Homologene
    FAMILY
  • RINT1 family
    • CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,organelle,Golgi
    intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
    text localized at the Golgi apparatus and the centrosome in addition to the endoplasmic reticulum (Lin 2007)
    basic FUNCTION
  • may play a role in the regulation of cell cycle control after DNA damage
  • serves as a novel tumor suppressor essential for maintaining the dynamic integrity of the Golgi apparatus and the centrosome, a prerequisite to their proper coordination during cell division (Lin 2007)
  • essential for telomere length control (Kong 2006)
  • Rad50-interacting protein that participates in radiation-induced G2/M checkpoint control (Arasaki 2007)
  • coordinates the localization and function of ZW10 by serving as a link between ZW10 and the SNARE complex comprising syntaxin 18 (Arasaki 2007)
  • is also required for endosome-to-trans-Golgi network trafficking
  • crucial roles of RINT1 in genomic stability maintenance, as well as in prevention of ER stress and autophagy
  • new role of RINT1 in coordination with the COG complex
  • RAD50-interacting protein and its function was therefore linked to the maintenance of genomic stability
  • involvement of RINT1 in the regulation of neuronal autophagy
  • RINT1 was implicated in the cell cycle checkpoint, membrane trafficking, Golgi apparatus and centrosome dynamic integrity, and telomere length control
  • role for MCRS1 and RINT1 in cancer development
  • influences cellular homeostasis through maintenance
    • of endoplasmic reticulum, Golgi and centrosome integrity and regulation of vesicle transport, autophagy and the G2/M checkpoint
  • RINT1 and NBAS, as part of the NRZ complex, do play a role in docking and fusion of transport vesicles in the trans-Golgi network as a component of an endoplasmic reticulum (ER) tethering complex which binds target SNAREs at the ER
    • CELLULAR PROCESS cell cycle
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • part of NRZ complex, which comprises NAG, RINT1, and ZW10, is also involved in Golgi-to-ER retrograde transport, but each component of the complex has diverse cellular functions including endosome-to-Golgi transport, cytokinesis, cell cycle checkpoint, autophagy, and mRNA decay
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • with RAD50
  • interacting with RBL2
  • together with the dynamitin-interacting protein ZW10 and others, is associated with syntaxin 18, an endoplasmic reticulum (ER)-localized SNARE involved in membrane trafficking between the ER and Golgi (Arasaki 2007)
  • NBAS links between USE1 and ZW10-RINT1 and is involved in Golgi-to-ER transport
  • mediates the association of ZW10 (mammalian Dsl1) with endoplasmic reticulum-localized SNARE proteins
  • MCRS1 directly interacts with RINT1
  • RINT1 interacts with NBAS, recently implicated in recurrent acute liver failure (RALF), and UVRAG, to facilitate Golgi-to-ER retrograde vesicle transport
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) ALFSA
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral somatic mutation   --over  
    as well as the presence of somatic missense mutations in RINT1 were associated with colorectal cancer development
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
  • expression of RINT1 predicts seizure occurrence and outcomes in patients with low-grade gliomas
    • Therapy target
    ANIMAL & CELL MODELS