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FLASH GENE
Symbol TLL1 contributors: mct/npt - updated : 26-06-2009
HGNC name tolloid-like 1
HGNC id 11843
Corresponding disease
ASD6 atrial septal defect 6
Location 4q32.3      Physical location : 166.794.409 - 167.024.993
Synonym symbol(s) TLL
EC.number 3.4.24.-
DNA
TYPE functioning gene
STRUCTURE 230.58 kb     21 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
21 - 6654 114.6 1013 - Scott (1999)
EXPRESSION
Type restricted
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Reproductivefemale systemplacenta   
 male systemprostate   
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Connectivebone   
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period embryo, pregnancy
Text placenta
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a signal peptide
  • a proregion the protease domain
  • three CUB domains (CUB3, important for substrate-specific recognition is mutated in any cases of ASD4) (Stanczak 2009)
  • an EGF domain
  • HOMOLOGY
    intraspecies paralog to TLL1
    Homologene
    FAMILY
  • astacin family of metalloproteases
  • peptidase M12A family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION extracellular
        intracellular
    intracellular,cytoplasm
    basic FUNCTION
  • astacin-like metalloprotease
  • processing procollagen C-propeptides
  • having low but detectable levels of probiglycan-cleaving activity (Scott 2000)
  • multidomain, zinc endopeptidase having key roles in extracellular matrix formation and morphogenesis (Mac Sweeney 2008)
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS development
    text development for normal septation and positioning of the heart
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding,
  • Zn2+
  • protein
  • cleaving chordin (CHRD) and counteracting its dorsalizing effects upon overexpression on Xenopus embryos, releasing BMP4 in its active form
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) ASD6
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS