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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
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