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FLASH GENE
Symbol ATMIN contributors: mct/npt/pgu - updated : 19-04-2012
HGNC name ATM interactor
HGNC id 29034
Location 16q23.2      Physical location : 81.069.457 - 81.080.951
Synonym name
  • KIAA0431 protein
  • ATM/ATR-Substrate Chk2-Interacting Zn2+-finger protein, ATM INteracting protein
  • Synonym symbol(s) ASCIZ, KIAA0431, ZNF822, FLJ76795
    DNA
    TYPE functioning gene
    STRUCTURE 11.50 kb     4 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    4 - 4866 - 823 - 2008 18433721
  • four N-terminal ZnFs
  • EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrineparathyroid   highly
    Lymphoid/Immunelymph node   highly
    Reproductivefemale systemuteruscervix highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • four N-terminal zinc finger domains
  • a central core domain which is necessary for Rad51-containing focus formation after ssDNA damage
  • a stretch with 11 SQ/TQ motifs at the C- terminal end (17 SQ/TQ in the full-length polypeptide) which implicate ATMIN as a potential ATM and ATR kinase substrate, and SQ/TQ cluster domain (SCD) is a transcription activation domain (TAD) in human cells
  • an ATM-interaction motif present near the C-terminus and homologous to that present in NBS1
  • HOMOLOGY
    Homologene
    FAMILY Mdt1/ASCIZ family
    CATEGORY unknown/unspecified
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    basic FUNCTION
  • DNA damage response protein, that may affect the choice between competing base repair pathways in a manner that reduces the amount of substrates available for Ig gene conversion
  • DNA damage response protein that has been proposed to be a regulator and stabilizing co-factor of the ATM kinase
  • defines a novel NBS1-independent pathway of ATM signaling
  • SQ/TQ cluster domain-containing protein, acting as a lesion-specific focus scaffold in a Rad51-dependent pathway that resolves cytotoxic repair intermediates, most likely single-stranded DNA gaps, resulting from MLH1-dependent processing of base lesions
  • may function as structurally related scaffolds that facilitate efficient DNA repair, albeit with diverged lesion specificity
  • mediates ATM activation by oxidative stress, and thereby protects the aging brain by preventing accumulation of DNA damage
  • exert its developmental functions as a transcription factor
  • forms DNA damage-induced nuclear foci, and is required for cell survival, specifically in response to lesions repaired by the base excision repair pathway
  • in addition to its role in the DNA base damage response, has separate developmental functions as an essential regulator of respiratory organogenesis
  • function in DNA damage survival and in controlling the early stages of lung development
  • also contributes to neural tube development, but histologically other organs seemed to be developing normally
  • plays a key role in the auto-regulation of DYNLL1 levels
  • functioning as a sensor of DYNLL1 protein levels in a novel feedback mechanism for auto-regulated gene expression
  • key role in regulating the survival of developing B cells by activating DYNLL1 expression, which may then modulate BCL2L11-dependent apoptosis
  • UBR5-mediated ATMIN ubiquitination is a vital event for ATM pathway selection and activation in response to DNA damage
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • essential component of the ATM signaling pathway in response to oxidative stress and aging
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacts with ATM through a C-terminal motif, which is also present in Nijmegen breakage syndrome (NBS1) (competition of NBS1 and ATMIN for ATM binding)
  • DYNLL1-binding partner
  • UBR5 interacts with ATMIN and catalyzes ubiquitination of ATMIN at lysine 238 in an IR-stimulated manner, which decreases ATMIN interaction with ATM and promotes MRN-mediated signaling
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    in ataxia telangiectasia cells
    constitutional       loss of function
    led to mild sensitivity to the base damaging agent methylmethane sulfonate (MMS
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • absence of Asciz leads to tp53-independent late-embryonic lethality in mice
  • Asciz-deficient embryos also exhibit severe respiratory tract defects with complete pulmonary agenesis and severe tracheal atresia