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FLASH GENE
Symbol TOR1AIP1 contributors: mct - updated : 04-07-2018
HGNC name torsin 1A interacting protein 1
HGNC id 29456
Corresponding disease
LGMD2Y muscular dystrophy, limb-girdle, type 2Y
Location 1q25.2      Physical location : 179.851.419 - 179.889.212
Synonym name
  • lamin-associated protein 1B
  • lamina-associated polypeptide 1
  • Synonym symbol(s) LAP1, LAP1B, LGMD2Y, MGC3413, FLJ13142, DKFZp586G011
    DNA
    TYPE functioning gene
    STRUCTURE 38.04 kb     10 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    10 - 4054 - 584 - 1995 7721789
    10 - 4051 - 583 - 1995 7721789
    - splicing - - 506 - 1995 7721789
  • protein of largely hydrophilic character with a single membrane-spanning region between residues 311-333
  • hydrophilic domain containing residues 1-310 is exposed to the nucleoplasm and thus LAP1C is a type II integral membrane protein
  • putatively N-terminal truncated
  • EXPRESSION
    Type ubiquitous
       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,nucleus
    intracellular,nuclear envelope,int
    text
  • type II transmembrane protein
  • localizes on the inner nuclear membrane (INM)
  • within the nuclear envelope, interacts physically with lamins, torsinA and emerin, suggesting it may serve as a key node for transducing signals across the inner nuclear membrane
  • basic FUNCTION
  • is an integral protein of the inner nuclear membrane that is expressed in most cells and tissues
  • TOR1AIP1, TOR1AIP2 regulate Torsin ATPase activity through an active site complementation mechanism
  • involved in maintaining the nuclear envelope structure and appears be involved in the positioning of lamins and chromatin
  • may play a role in protein degradation possibly through transcriptional regulation in muscle tissue
  • 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)
  • binds to lamins and chromatin, probably contributing to the maintenance of the nuclear envelope architecture
  • 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
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) LGMD2Y
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS