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FLASH GENE
Symbol AFAP1L1 contributors: mct/npt - updated : 25-10-2012
HGNC name actin filament associated protein 1-like 1
HGNC id 26714
Location 5q33.1      Physical location : 148.651.400 - 148.721.365
Synonym symbol(s) FLJ36748, MGC149773
DNA
TYPE functioning gene
STRUCTURE 69.97 kb     19 Exon(s)
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
19 - 4223 86 768 - 2011 21333378
18 - 4094 - 725 - 2011 21333378
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestivesalivary gland   highly
Nervousbrainlimbic systemhippocampusdentate gyrus  Homo sapiens
Reproductivefemale systemplacenta  highly
Respiratoryrespiratory tracttrachea  highly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Muscularstriatum    Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • two PH domains
  • SH3 binding motif interacting with the SH3 domain of cortactin and not SRC
  • HOMOLOGY
    Homologene
    FAMILY
    CATEGORY unknown/unspecified
    SUBCELLULAR LOCALIZATION     plasma membrane,junction
        intracellular
    intracellular,cytoplasm
    basic FUNCTION
  • decorate actin filaments and move to punctate actin structures and colocalize with cortactin, consistent with localization to invadosomes
  • may play a similar role to AFAP1 in affecting changes in actin filaments and bridging interactions with binding partners, but we hypothesize that AFAP1L1 may forge unique protein interactions in which AFAP1 is less efficient, and these interactions may allow AFAP1L1 to affect invadosome formation
  • has a role in the progression of spindle cell sarcomas and is a prognostic biomarker
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • phosphorylated upon DNA damage, probably by ATM or ATR
  • novel role for SP3 in sarcomas as a driver for expression of the metastasis-related gene AFAP1L1
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
  • has a role in the progression of spindle cell sarcomas and is a prognostic biomarker
  • Therapy target
    ANIMAL & CELL MODELS