Format

Send to:

Choose Destination
    • Showing Current items.

    ADAMTS3 ADAM metallopeptidase with thrombospondin type 1 motif 3 [ Homo sapiens (human) ]

    Gene ID: 9508, updated on 22-Jun-2019

    Summary

    Official Symbol
    ADAMTS3provided by HGNC
    Official Full Name
    ADAM metallopeptidase with thrombospondin type 1 motif 3provided by HGNC
    Primary source
    HGNC:HGNC:219
    See related
    Ensembl:ENSG00000156140 MIM:605011
    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
    HKLLS3; ADAMTS-4
    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 protease. This protease, a member of the procollagen aminopropeptidase subfamily of proteins, may play a role in the processing of type II fibrillar collagen in articular cartilage. [provided by RefSeq, Feb 2016]
    Expression
    Broad expression in testis (RPKM 1.4), ovary (RPKM 1.0) and 22 other tissues See more
    Orthologs

    Genomic context

    See ADAMTS3 in Genome Data Viewer
    Location:
    4q13.3
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (72280969..72569221, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (73146686..73434516, complement)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene VISTA enhancer hs2570 Neighboring gene Sharpr-MPRA regulatory region 3382 Neighboring gene neuropeptide FF receptor 2 Neighboring gene heterogeneous nuclear ribonucleoprotein A1 pseudogene 67 Neighboring gene uncharacterized LOC105377273 Neighboring gene RNA, U4atac small nuclear 9, pseudogene

    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 FunctionsWhat's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 3
    MedGen: C4748408 OMIM: 618154 GeneReviews: Not available
    not available

    NHGRI GWAS Catalog

    Description
    Genome-wide association scan for survival on dialysis in African-Americans with type 2 diabetes.
    NHGRI GWA Catalog
    Genome-wide association scan of dental caries in the permanent dentition.
    NHGRI GWA Catalog
    Genome-wide association study identifies multiple loci influencing human serum metabolite levels.
    NHGRI GWA Catalog
    Hundreds of variants clustered in genomic loci and biological pathways affect human height.
    NHGRI GWA Catalog
    Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
    NHGRI GWA Catalog
    Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis.
    NHGRI GWA Catalog

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Vif vif HIV-1 Vif upregulates the expression of ADAM metallopeptidase with thrombospondin type 1 motif 3 protein (ADAMTS3) in Vif-expression T cells PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from BioSystems

    • Collagen biosynthesis and modifying enzymes, organism-specific biosystem (from REACTOME)
      Collagen biosynthesis and modifying enzymes, organism-specific biosystemThe biosynthesis of collagen is a multistep process. Collagen propeptides are cotranslationally translocated into the ER lumen. Propeptides undergo a number of post-translational modifications. Proli...
    • Collagen formation, organism-specific biosystem (from REACTOME)
      Collagen formation, organism-specific biosystemCollagen is a family of at least 29 structural proteins derived from over 40 human genes (Myllyharju & Kivirikko 2004). It is the main component of connective tissue, and the most abundant protein in...
    • 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...
    • 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...
    • 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...

    General gene information

    Markers

    Homology

    Clone Names

    • KIAA0366

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    endopeptidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    heparin binding IEA
    Inferred from Electronic Annotation
    more info
     
    metalloendopeptidase activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    zinc ion binding NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    colocalizes_with collagen-containing extracellular matrix TAS
    Traceable Author Statement
    more info
    PubMed 
    extracellular exosome HDA PubMed 
    extracellular matrix NAS
    Non-traceable Author Statement
    more info
    PubMed 
    extracellular region TAS
    Traceable Author Statement
    more info
     
    extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    A disintegrin and metalloproteinase with thrombospondin motifs 3
    Names
    ADAM-TS 3
    ADAM-TS3
    ADAMTS-3
    PC II-NP
    a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3
    procollagen II N-proteinase
    procollagen II amino propeptide-processing enzyme
    zinc metalloendopeptidase
    NP_055058.2
    XP_011530723.1
    XP_011530724.1

    NCBI Reference Sequences (RefSeq)

    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.

    Genomic

    1. NG_046955.1 RefSeqGene

      Range
      5001..292831
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_014243.3NP_055058.2  A disintegrin and metalloproteinase with thrombospondin motifs 3 preproprotein

      See identical proteins and their annotated locations for NP_055058.2

      Status: REVIEWED

      Source sequence(s)
      AB002364, AC104814, AF247668, AK295131, BC016451, BC130287
      Consensus CDS
      CCDS3553.1
      UniProtKB/Swiss-Prot
      O15072
      UniProtKB/TrEMBL
      B7Z2U9, Q96AY5
      Related
      ENSP00000286657.4, ENST00000286657.10
      Conserved Domains (6) summary
      smart00209
      Location:554605
      TSP1; Thrombospondin type 1 repeats
      cd04273
      Location:256457
      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:258460
      Reprolysin; Reprolysin (M12B) family zinc metalloprotease
      pfam01562
      Location:66200
      Pep_M12B_propep; Reprolysin family propeptide
      pfam05986
      Location:713827
      ADAM_spacer1; ADAM-TS Spacer 1
      pfam08686
      Location:10231051
      PLAC; PLAC (protease and lacunin) domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

      Range
      72280969..72569221 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011532422.3XP_011530724.1  A disintegrin and metalloproteinase with thrombospondin motifs 3 isoform X2

      Conserved Domains (6) summary
      smart00209
      Location:526577
      TSP1; Thrombospondin type 1 repeats
      cd04273
      Location:228429
      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:230432
      Reprolysin; Reprolysin (M12B) family zinc metalloprotease
      pfam01562
      Location:38172
      Pep_M12B_propep; Reprolysin family propeptide
      pfam05986
      Location:685799
      ADAM_spacer1; ADAM-TS Spacer 1
      pfam08686
      Location:9951023
      PLAC; PLAC (protease and lacunin) domain
    2. XM_011532421.2XP_011530723.1  A disintegrin and metalloproteinase with thrombospondin motifs 3 isoform X1

      Conserved Domains (6) summary
      smart00209
      Location:535586
      TSP1; Thrombospondin type 1 repeats
      cd04273
      Location:237438
      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:239441
      Reprolysin; Reprolysin (M12B) family zinc metalloprotease
      pfam01562
      Location:47181
      Pep_M12B_propep; Reprolysin family propeptide
      pfam05986
      Location:694808
      ADAM_spacer1; ADAM-TS Spacer 1
      pfam08686
      Location:10041032
      PLAC; PLAC (protease and lacunin) domain
    Support Center