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FLASH GENE
Symbol TOR1AIP2 contributors: mct - updated : 04-07-2018
HGNC name torsin 1A interacting protein 2
HGNC id 24055
Location 1q25.2      Physical location : 179.813.067 - 179.846.941
Synonym name
  • 15 kDa interferon-responsive protein
  • interferon responsive gene 15
  • lumenal domain like LAP1
  • Synonym symbol(s) IFRG15, LULL1, NET9, FLJ77012, MGC120074, MGC120075,
    DNA
    TYPE functioning gene
    STRUCTURE 37.84 kb
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    6 - 8196 - 470 - 2015 26041288
    7 - 8309 - 470 - 2015 26041288
    6 - 7912 - 470 - 2015 26041288
    7 - 8025 - 470 - 2015 26041288
    7 - 8331 - 470 - 2015 26041288
    8 - 8444 - 470 - 2015 26041288
    3 - 8282 - 131 - 2015 26041288
    2 - 8066 - 131 - 2015 26041288
    2 - 8147 - 131 - 2015 26041288
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a conserved domain that is predicted to adopt a fold resembling an AAA+ (ATPase associated with a variety of cellular activities) domain
  • HOMOLOGY
    Homologene
    FAMILY
    CATEGORY
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,nucleus
    text
  • type II transmembrane proteins
  • is in the peripheral ER and does not enter the inner nuclear membrane (INM)
  • basic FUNCTION
  • TOR1AIP2 regulates the distribution and activity of TOR1A within the ER and NE lumen suggesting functional defects in the mutant protein responsible for DYT1 dystonia
  • endoplasmic reticulum membrane protein
  • TOR1AIP1, TOR1AIP2 regulate Torsin ATPase activity through an active site complementation mechanism
  • TOR1AIP2 is the most important component of the Torsin system with respect to viral production
  • oligomerizes likely to engage and transiently disassemble torsinA oligomers, and is thereby positioned to transduce cytoplasmic signals to the inner nuclear membrane (INM) through torsinA
  • might be an important molecule for maintaining genomic integrity and stability through upregulating or downregulating a cascade of genes to permit normal preimplantation embryo development
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • impaired interaction of torsinA with TOR1AIP2 and/or TOR1AIP1 may thus contribute to the development of dystonia
  • depending on redox status, an ATP hydrolysis mutant of torsinA interacts with lamina-associated polypeptide 1 (TOR1AIP1) and lumenal domain like LAP1 (TOR1AIP2)
  • LRRFIP2 and TOR1AIP2 are FATylation substrates
  • activity of TorsinA and the related ATPase TorsinB strictly depends on TOR1AIP1 and TOR1AIP2, that are integral parts of the Torsin/cofactor AAA ring, forming a composite, membrane-spanning assembly
  • TOR1AIP1 and TOR1AIP2, reversibly co-assemble with and activate torsin A (POMUID: 26092934)
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional       loss of function
    leads to a 10-fold decrease in the number of viral genomes per host cell without affecting viral protein production
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS