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    ADAMTS4 ADAM metallopeptidase with thrombospondin type 1 motif 4 [ Homo sapiens (human) ]

    Gene ID: 9507, updated on 20-Aug-2016
    Official Symbol
    ADAMTS4provided by HGNC
    Official Full Name
    ADAM metallopeptidase with thrombospondin type 1 motif 4provided by HGNC
    Primary source
    HGNC:HGNC:220
    See related
    Ensembl:ENSG00000158859 HPRD:04853; MIM:603876; Vega:OTTHUMG00000034349
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ADMP-1; ADAMTS-2; ADAMTS-4
    Summary
    This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of this family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The enzyme encoded by this gene lacks a C-terminal TS motif. The encoded preproprotein is proteolytically processed to generate the mature protease. This protease is responsible for the degradation of aggrecan, a major proteoglycan of cartilage, and brevican, a brain-specific extracellular matrix protein. The expression of this gene is upregulated in arthritic disease and this may contribute to disease progression through the degradation of aggrecan. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Feb 2016]
    Orthologs
    Location:
    1q21-q23
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 1 NC_000001.11 (161189725..161199080, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (161159538..161168845, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ubiquitin specific peptidase 21 Neighboring gene protoporphyrinogen oxidase Neighboring gene beta-1,4-galactosyltransferase 3 Neighboring gene NADH:ubiquinone oxidoreductase core subunit S2 Neighboring gene Fc fragment of IgE receptor Ig Neighboring gene apolipoprotein A2

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    • Defective B3GALTL causes Peters-plus syndrome (PpS), organism-specific biosystem (from REACTOME)
      Defective B3GALTL causes Peters-plus syndrome (PpS), organism-specific biosystemHuman beta-1,3-glucosyltransferase like protein (B3GALTL, HGNC Approved Gene Symbol: B3GLCT; MIM:610308; CAZy family GT31), localised on the ER membrane, glucosylates O-fucosylated proteins. The resu...
    • Degradation of the extracellular matrix, organism-specific biosystem (from REACTOME)
      Degradation of the extracellular matrix, organism-specific biosystemMatrix metalloproteinases (MMPs), previously referred to as matrixins because of their role in degradation of the extracellular matrix (ECM), are zinc and calcium dependent proteases belonging to the...
    • Disease, organism-specific biosystem (from REACTOME)
      Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
    • Diseases associated with O-glycosylation of proteins, organism-specific biosystem (from REACTOME)
      Diseases associated with O-glycosylation of proteins, organism-specific biosystemGlycosylation is the most abundant modification of proteins, variations of which occur in all living cells. Glycosylation can be further categorized into N-linked (where the oligosaccharide is conjug...
    • Diseases of glycosylation, organism-specific biosystem (from REACTOME)
      Diseases of glycosylation, organism-specific biosystemDiseases of glycosylation, usually referred to as congenital disorders of glycosylation (CDG), are rare inherited disorders ascribing defects of nucleotide-sugar biosynthesis and transport, glycosylt...
    • Endochondral Ossification, organism-specific biosystem (from WikiPathways)
      Endochondral Ossification, organism-specific biosystem
      Endochondral Ossification
    • Extracellular matrix organization, organism-specific biosystem (from REACTOME)
      Extracellular matrix organization, organism-specific biosystemThe extracellular matrix is a component of all mammalian tissues, a network consisting largely of the fibrous proteins collagen, elastin and associated-microfibrils, fibronectin and laminins embedded...
    • Metabolism of proteins, organism-specific biosystem (from REACTOME)
      Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
    • O-glycosylation of TSR domain-containing proteins, organism-specific biosystem (from REACTOME)
      O-glycosylation of TSR domain-containing proteins, organism-specific biosystemThe O-fucosylation of proteins containing thrombospondin type 1 repeat (TSR) domains is an important PTM, regulating many biological processes such as Notch signalling, inflammation, wound healing, a...
    • O-linked glycosylation, organism-specific biosystem (from REACTOME)
      O-linked glycosylation, organism-specific biosystemO-glycosylation is an important post-translational modification (PTM) required for correct functioning of many proteins (Van den Steen et al. 1998, Moremen et al. 2012). The O-glycosylation of protei...
    • Post-translational protein modification, organism-specific biosystem (from REACTOME)
      Post-translational protein modification, organism-specific biosystemAfter translation, many newly formed proteins undergo further covalent modifications that alter their functional properties and that are essentially irreversible under physiological conditions in the...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • KIAA0688

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    metalloendopeptidase activity TAS
    Traceable Author Statement
    more info
     
    metallopeptidase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    peptidase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    protease binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    extracellular matrix disassembly TAS
    Traceable Author Statement
    more info
     
    proteolysis IEA
    Inferred from Electronic Annotation
    more info
     
    skeletal system development TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    extracellular matrix IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular region TAS
    Traceable Author Statement
    more info
     
    extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    proteinaceous extracellular matrix IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    A disintegrin and metalloproteinase with thrombospondin motifs 4
    Names
    ADAM metallopeptidase with thrombospondin type 1 motif, 4
    ADAM-TS 4
    ADAM-TS4
    a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 4
    aggrecanase-1
    NP_001307265.1
    NP_005090.3

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001320336.1NP_001307265.1  A disintegrin and metalloproteinase with thrombospondin motifs 4 isoform 2 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2, also known as ADAMTS4_v1) uses an alternate splice site in the 3' coding region resulting in a frameshift compared to variant 1. The encoded isoform (2) has a longer and distinct C-terminus compared to isoform 1, but may undergo proteolytic processing similar to isoform 1.
      Source sequence(s)
      AA603151, AB014588, AF148213, AY358886, BC063293, DA098917, DQ364570
      UniProtKB/Swiss-Prot
      O75173
      Conserved Domains (5) summary
      smart00209
      Location:531575
      TSP1; Thrombospondin type 1 repeats
      cd04273
      Location:218425
      ZnMc_ADAMTS_like; Zinc-dependent metalloprotease, ADAMTS_like subgroup. ADAMs (A Disintegrin And Metalloprotease) are glycoproteins, which play roles in cell signaling, cell fusion, and cell-cell interactions. This particular subfamily represents domain architectures that ...
      pfam01421
      Location:218428
      Reprolysin; Reprolysin (M12B) family zinc metalloprotease
      pfam01562
      Location:60181
      Pep_M12B_propep; Reprolysin family propeptide
      cl15456
      Location:438509
      ADAM_CR; ADAM cysteine-rich
    2. NM_005099.5NP_005090.3  A disintegrin and metalloproteinase with thrombospondin motifs 4 isoform 1 preproprotein

      See identical proteins and their annotated locations for NP_005090.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the shorter isoform (1).
      Source sequence(s)
      AA603151, AB014588, AF148213, AY358886, BC063293, DA098917
      Consensus CDS
      CCDS1223.1
      UniProtKB/Swiss-Prot
      O75173
      Related
      ENSP00000356975, OTTHUMP00000032249, ENST00000367996, OTTHUMT00000083066
      Conserved Domains (6) summary
      smart00209
      Location:531575
      TSP1; Thrombospondin type 1 repeats
      cd04273
      Location:218425
      ZnMc_ADAMTS_like; Zinc-dependent metalloprotease, ADAMTS_like subgroup. ADAMs (A Disintegrin And Metalloprotease) are glycoproteins, which play roles in cell signaling, cell fusion, and cell-cell interactions. This particular subfamily represents domain architectures that ...
      pfam01421
      Location:218428
      Reprolysin; Reprolysin (M12B) family zinc metalloprotease
      pfam01562
      Location:70181
      Pep_M12B_propep; Reprolysin family propeptide
      pfam05986
      Location:687802
      ADAM_spacer1; ADAM-TS Spacer 1
      cl15456
      Location:438509
      ADAM_CR; ADAM cysteine-rich

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p7 Primary Assembly

      Range
      161189725..161199080 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_001737548.1 RNA Sequence

    2. XR_001737549.1 RNA Sequence

    Alternate CHM1_1.1

    Genomic

    1. NC_018912.2 Alternate CHM1_1.1

      Range
      162555757..162565081 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)