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FLASH GENE
Symbol ADAMTSL4 contributors: mct/shn - updated : 26-05-2011
HGNC name ADAMTS-like 4
HGNC id 19706
Corresponding disease
ELIAR Ectopia Lentis Isolated Autosomal Recessive
ELPAR Ectopia Lentis and Pupillae Autosomal Recessive
Location 1q21.3      Physical location : 150.521.897 - 150.533.410
Synonym name
  • thrombospondin repeat containing 1
  • ADAMTS-like protein 4
  • Synonym symbol(s) TSRC1, DKFZP434K1772, ADAMTSL-4
    DNA
    TYPE functioning gene
    SPECIAL FEATURE arranged in tandem
    text
  • in tandem with ECM1
  • ADAMTSL4 and ADAM15 may be derived by a chromosomal inversion
  • STRUCTURE 11.52 kb     19 Exon(s)
    text structure
  • 17 coding exons and two nontranslated exons
  • MAPPING cloned Y linked N status confirmed
    Map cen - D1S2612 - D1S3466 - ADAMTSL4 - D1S498 - D1S2347 - qter
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    19 - 4209 116 1074 - 2009 19200529
    15 - 2897 95 877 - 2009 19200529
    lacking several 3' exons compared to variant 1
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   moderately Homo sapiens
    Digestiveintestinelarge intestinecolon moderately Homo sapiens
     liver   moderately Homo sapiens
    Endocrinepancreas   lowly Homo sapiens
    Lymphoid/Immunespleen   moderately Homo sapiens
     thymus   lowly Homo sapiens
    Nervousbrain   lowly Homo sapiens
     spinal cord   highly Homo sapiens
    Reproductivemale systemtestis  moderately Homo sapiens
    Respiratorylung   moderately Homo sapiens
    Skin/Tegumentskin   moderately Homo sapiens
    Urinarykidney   lowly Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / hematopoieticbone marrow  lowly Homo sapiens
    Muscularstriatumskeletal highly Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Lymphoid/Immunelymphocyte Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period pregnancy
    Text heart, kidney, liver, lung, muscle and skin (
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • one ADAM-TS Spacer 1 domain (that contains the reported mutation)
  • a PLAC domain
  • a leucine zipper domain
  • seven thrombospondin repeats, six of which are clustered
  • at the C-terminus
    HOMOLOGY
    interspecies ortholog to Adamtsl4, Rattus norvegicus
    ortholog to Adamtsl4, Mus musculus
    ortholog to ADAMTSL4, Pan troglodytes
    Homologene
    FAMILY
  • ADAMTS (a disintegrin and metalloproteinase with thrombospondin motif) protein family
  • CATEGORY enzyme , regulatory
    SUBCELLULAR LOCALIZATION extracellular
    text to localize in the extracellular matrix
    basic FUNCTION
  • acting as a metalloendopeptidase
  • involved in positive regulation of apoptosis
  • plays a role in the development and/or integrity of the zonular fibers
  • might play more of a structural role in the assembly or integrity of ECM
  • CELLULAR PROCESS cell life, cell death/apoptosis
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • Cathepsin B, CTSB
  • associate with ECM molecules through its TSR domains after secretion
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) ELIAR , ELPAR
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS