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FLASH GENE
Symbol ANKLE1 contributors: mct - updated : 23-09-2016
HGNC name ankyrin repeat and LEM domain containing 1
HGNC id 26812
DNA
TYPE functioning gene
STRUCTURE 6.01 kb     9 Exon(s)
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
9 - 3216 67 669 - 2012 22399800
8 - 3001 - 651 - 2012 22399800
9 - 3135 - 611 - 2012 22399800
9 - 3107 - 632 - 2012 22399800
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveintestinesmall intestine   
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Blood / hematopoieticbone marrow  predominantly Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a LEM-domain, which binds a conserved chromatin protein named BANF1
  • C-terminally located classical monopartite nuclear localization signal and a centrally located CRM1-dependent nuclear export signal that mediate nucleo-cytoplasmic shuttling of ANKLE1
  • C-terminal GIY-YIG motif that confers endonuclease activity
  • HOMOLOGY
    interspecies homolog to murine Ankrd41
    Homologene
    FAMILY LEM-domain proteins family
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    intracellular,nucleus,nucleoplasm
    intracellular,nuclear envelope
    text
  • most LEM-domain proteins are found at the nuclear membrane, but some are nucleoplasmic
  • is not an integral protein of the inner nuclear membrane but shuttles between the nucleus and the cytoplasm, and is predominant in the cytoplasm
  • basic FUNCTION
  • enriched in the nucleoplasm induces DNA cleavage and DNA damage response
  • is an unusual LEM protein with a GIY-YIG-type endonuclease activity in higher eukaryotes
  • nuclease likely involved in DNA damage repair pathways
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • lack of Ankle1 does neither affect mouse hematopoiesis nor DNA damage repair in mouse embryonic fibroblasts, indicating a redundant or non-essential function of ANKLE1 in mouse