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    ADAMTS5 ADAM metallopeptidase with thrombospondin type 1 motif 5 [ Homo sapiens (human) ]

    Gene ID: 11096, updated on 9-Dec-2024

    Summary

    Official Symbol
    ADAMTS5provided by HGNC
    Official Full Name
    ADAM metallopeptidase with thrombospondin type 1 motif 5provided by HGNC
    Primary source
    HGNC:HGNC:221
    See related
    Ensembl:ENSG00000154736 MIM:605007; AllianceGenome:HGNC:221
    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-2; ADAM-TS5; ADAMTS-5; ADAMTS11; ADAM-TS 5; ADAMTS-11; ADAM-TS 11
    Summary
    This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the 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 encoded preproprotein is proteolytically processed to generate the mature enzyme. This enzyme contains two C-terminal TS motifs and functions as an aggrecanase that cleaves aggrecan, a major proteoglycan of cartilage, and may mediate cartilage destruction in osteoarthritis. [provided by RefSeq, Feb 2016]
    Expression
    Broad expression in ovary (RPKM 9.8), endometrium (RPKM 9.6) and 17 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See ADAMTS5 in Genome Data Viewer
    Location:
    21q21.3
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (26917922..26967088, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 21 NC_060945.1 (25276336..25326235, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (28290241..28339407, complement)

    Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene MED14-independent group 3 enhancer GRCh37_chr21:28214275-28215474 Neighboring gene H3K27ac hESC enhancer GRCh37_chr21:28217912-28218512 Neighboring gene H3K27ac hESC enhancer GRCh37_chr21:28218513-28219112 Neighboring gene NANOG hESC enhancer GRCh37_chr21:28224660-28225227 Neighboring gene uncharacterized LOC105372760 Neighboring gene ADAM metallopeptidase with thrombospondin type 1 motif 1 Neighboring gene NANOG hESC enhancer GRCh37_chr21:28282232-28282780 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_61884 Neighboring gene VISTA enhancer hs1684 Neighboring gene uncharacterized LOC124905050 Neighboring gene microRNA 4759 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr21:28398443-28399271 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_61891 Neighboring gene uncharacterized LOC102724355 Neighboring gene glutathione peroxidase pseudogene 2 Neighboring gene uncharacterized LOC105372759

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Genome-wide association scan for survival on dialysis in African-Americans with type 2 diabetes.
    EBI GWAS Catalog

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    Knockdown of ADAM metallopeptidase with thrombospondin type 1 motif, 5 (ADAMTS5) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ36738

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables endopeptidase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables extracellular matrix binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables heparin binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables integrin binding TAS
    Traceable Author Statement
    more info
    PubMed 
    enables metalloendopeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables metalloendopeptidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables metalloendopeptidase activity TAS
    Traceable Author Statement
    more info
     
    enables metallopeptidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables peptidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in aortic valve morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in defense response to bacterium IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in endocardial cushion morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in extracellular matrix disassembly ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in extracellular matrix disassembly TAS
    Traceable Author Statement
    more info
     
    involved_in extracellular matrix organization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in myoblast fusion ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of cold-induced thermogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in proteolysis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in proteolysis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in pulmonary valve morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    located_in collagen-containing extracellular matrix IEA
    Inferred from Electronic Annotation
    more info
     
    located_in endoplasmic reticulum lumen TAS
    Traceable Author Statement
    more info
     
    is_active_in extracellular matrix IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in extracellular region TAS
    Traceable Author Statement
    more info
     
    located_in extracellular space IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    A disintegrin and metalloproteinase with thrombospondin motifs 5
    Names
    a disintegrin and metalloproteinase with thrombospondin motifs 11
    a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 5 (aggrecanase-2)
    aggrecanase-2

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_007038.5NP_008969.2  A disintegrin and metalloproteinase with thrombospondin motifs 5 preproprotein

      See identical proteins and their annotated locations for NP_008969.2

      Status: REVIEWED

      Source sequence(s)
      AF142099, AK094057, AP001600, AP001601, CA313018
      Consensus CDS
      CCDS13579.1
      UniProtKB/Swiss-Prot
      Q52LV4, Q9UKP2, Q9UNA0
      Related
      ENSP00000284987.5, ENST00000284987.6
      Conserved Domains (4) summary
      smart00209
      Location:570622
      TSP1; Thrombospondin type 1 repeats
      cd04273
      Location:269473
      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 ...
      pfam01562
      Location:67168
      Pep_M12B_propep; Reprolysin family propeptide
      pfam05986
      Location:732852
      ADAM_spacer1; ADAM-TS Spacer 1

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000021.9 Reference GRCh38.p14 Primary Assembly

      Range
      26917922..26967088 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047440680.1XP_047296636.1  A disintegrin and metalloproteinase with thrombospondin motifs 5 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060945.1 Alternate T2T-CHM13v2.0

      Range
      25276336..25326235 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054324327.1XP_054180302.1  A disintegrin and metalloproteinase with thrombospondin motifs 5 isoform X2

    2. XM_054324326.1XP_054180301.1  A disintegrin and metalloproteinase with thrombospondin motifs 5 isoform X2

    3. XM_054324328.1XP_054180303.1  A disintegrin and metalloproteinase with thrombospondin motifs 5 isoform X1