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    ADAMTS7 ADAM metallopeptidase with thrombospondin type 1 motif 7 [ Homo sapiens (human) ]

    Gene ID: 11173, updated on 28-Oct-2024

    Summary

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    Official Symbol
    ADAMTS7provided by HGNC
    Official Full Name
    ADAM metallopeptidase with thrombospondin type 1 motif 7provided by HGNC
    Primary source
    HGNC:HGNC:223
    See related
    Ensembl:ENSG00000136378 MIM:605009; AllianceGenome:HGNC:223
    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
    ADAM-TS7; ADAMTS-7; ADAM-TS 7
    Summary
    The protein encoded by this gene is a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) 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 encoded preproprotein is proteolytically processed to generate the mature enzyme. This enzyme contains two C-terminal TS motifs and may regulate vascular smooth muscle cell (VSMC) migration. Mutations in this gene may be associated with susceptibility to coronary artery disease. [provided by RefSeq, Feb 2016]
    Expression
    Broad expression in endometrium (RPKM 4.6), heart (RPKM 3.1) and 20 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ADAMTS7 in Genome Data Viewer
    Location:
    15q25.1
    Exon count:
    26
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (78759206..78811464, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (76622631..76675136, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (79051548..79103806, complement)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC112268143 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:79048664-79049468 Neighboring gene TBC1 domain family member 2B pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:79049469-79050273 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:79059419-79059996 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:79061151-79061726 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:79066205-79066706 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_40965 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6715 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_41019 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_41025 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6716 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:79123741-79124288 Neighboring gene relaxin family peptide receptor 3 pseudogene Neighboring gene tRNA-Lys (anticodon CTT) 1-2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    Related articles in PubMed

    1. Association of ADAMTS7 gene polymorphism with cardiovascular survival in coronary artery disease. Pereira A, et al. Physiol Genomics, 2016 Nov 1. PMID 27614204
    2. Association between ADAMTS7 TagSNPs and the risk of myocardialinfarction. Liang LL, et al. Postgrad Med J, 2019 Sep. PMID 31292280
    3. Proteomic discovery of substrates of the cardiovascular protease ADAMTS7. Colige A, et al. J Biol Chem, 2019 May 17. PMID 30926607, Free PMC Article
    4. Association of serum ADAMTS7 levels and genetic variant rs1994016 with acute coronary syndrome in a Chinese population: A case control study. Lin Y, et al. Atherosclerosis, 2018 Aug. PMID 29980058
    5. Association of serum ADAMTS-7 levels with left ventricular reverse remodeling after ST-elevation myocardial infarction. Wu W, et al. Eur J Med Res, 2018 Mar 10. PMID 29523183, Free PMC Article

    See all (58) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Diagnostic value of serum COMP and ADAMTS7 for intervertebral disc degeneration.
      Title: Diagnostic value of serum COMP and ADAMTS7 for intervertebral disc degeneration.
    2. The Association of ADAMTS7 Gene Polymorphisms with the Risk of Coronary Artery Disease Occurrence and Cardiovascular Survival in the Polish Population: A Case-Control and a Prospective Cohort Study.
      Title: The Association of ADAMTS7 Gene Polymorphisms with the Risk of Coronary Artery Disease Occurrence and Cardiovascular Survival in the Polish Population: A Case-Control and a Prospective Cohort Study.
    3. ADAMTS-7 Modulates Atherosclerotic Plaque Formation by Degradation of TIMP-1.
      Title: ADAMTS-7 Modulates Atherosclerotic Plaque Formation by Degradation of TIMP-1.
    4. miR-654-5p Suppresses Migration and Proliferation of Vascular Smooth Muscle Cells by Targeting ADAMTS-7.
      Title: miR-654-5p Suppresses Migration and Proliferation of Vascular Smooth Muscle Cells by Targeting ADAMTS-7.
    5. ADAMTS-7 deficiency attenuates thoracic aortic aneurysm and dissection in mice.
      Title: ADAMTS-7 deficiency attenuates thoracic aortic aneurysm and dissection in mice.
    6. Genome-wide pleiotropy analysis of coronary artery disease and pneumonia identifies shared immune pathways.
      Title: Genome-wide pleiotropy analysis of coronary artery disease and pneumonia identifies shared immune pathways.
    7. Coronary Disease Association With ADAMTS7 Is Due to Protease Activity.
      Title: Coronary Disease Association With ADAMTS7 Is Due to Protease Activity.
    8. ADAMTS7 degrades Comp to fuel BMP2-dependent osteogenic differentiation and ameliorate oncogenic potential in osteosarcomas.
      Title: ADAMTS7 degrades Comp to fuel BMP2-dependent osteogenic differentiation and ameliorate oncogenic potential in osteosarcomas.
    9. Hypomethylation of DNA promoter upregulates ADAMTS7 and contributes to HTR-8/SVneo and JEG-3 cells abnormalities in pre-eclampsia.
      Title: Hypomethylation of DNA promoter upregulates ADAMTS7 and contributes to HTR-8/SVneo and JEG-3 cells abnormalities in pre-eclampsia.
    10. Association of polymorphisms in ADAMTS-7 gene with the susceptibility to coronary artery disease - a systematic review and meta-analysis.
      Title: Association of polymorphisms in ADAMTS-7 gene with the susceptibility to coronary artery disease - a systematic review and meta-analysis.
    Submit: New GeneRIF Correction See all GeneRIFs (45)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    A genome-wide association study in Europeans and South Asians identifies five new loci for coronary artery disease.
    EBI GWAS Catalog
    Genome-wide association study of coronary and aortic calcification implicates risk loci for coronary artery disease and myocardial infarction.
    EBI GWAS Catalog
    Identification of ADAMTS7 as a novel locus for coronary atherosclerosis and association of ABO with myocardial infarction in the presence of coronary atherosclerosis: two genome-wide association studies.
    EBI GWAS Catalog
    Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease.
    EBI GWAS Catalog
    Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • DKFZp434H204

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables metalloendopeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables metalloendopeptidase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables metallopeptidase activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cellular response to BMP stimulus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in cellular response to interleukin-1 IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cellular response to tumor necrosis factor IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in chondrocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in collagen fibril organization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in extracellular matrix organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of chondrocyte differentiation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in ossification involved in bone maturation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in proteoglycan metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in proteolysis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in proteolysis involved in protein catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cell surface 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 IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    A disintegrin and metalloproteinase with thrombospondin motifs 7
    Names
    COMPase
    a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein
    a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7
    NP_055087.2
    XP_011519468.1
    XP_047288078.1
    XP_047288079.1
    XP_054233192.1
    XP_054233193.1
    XP_054233194.1

    NCBI Reference Sequences (RefSeq)

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    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_011492.1 RefSeqGene

      Range
      4968..57226
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_014272.5 → NP_055087.2  A disintegrin and metalloproteinase with thrombospondin motifs 7 preproprotein

      See identical proteins and their annotated locations for NP_055087.2

      Status: REVIEWED

      Source sequence(s)
      AC022748, AL110226, AY327122, BC061631, HY169258
      Consensus CDS
      CCDS32303.1
      UniProtKB/Swiss-Prot
      Q14F51, Q6P7J9, Q9UKP4
      Related
      ENSP00000373472.4, ENST00000388820.5
      Conserved Domains (6) summary
      smart00209
      Location:541 → 593
      TSP1; Thrombospondin type 1 repeats
      cd04273
      Location:242 → 449
      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:242 → 452
      Reprolysin; Reprolysin (M12B) family zinc metalloprotease
      pfam01562
      Location:68 → 183
      Pep_M12B_propep; Reprolysin family propeptide
      pfam05986
      Location:699 → 809
      ADAM_spacer1; ADAM-TS Spacer 1
      cl15456
      Location:474 → 530
      ADAM_CR; ADAM cysteine-rich

    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_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      78759206..78811464 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047432122.1 → XP_047288078.1  A disintegrin and metalloproteinase with thrombospondin motifs 7 isoform X1

    2. XM_047432123.1 → XP_047288079.1  A disintegrin and metalloproteinase with thrombospondin motifs 7 isoform X2

    3. XM_011521166.3 → XP_011519468.1  A disintegrin and metalloproteinase with thrombospondin motifs 7 isoform X3

      UniProtKB/TrEMBL
      Q9UFZ4
      Conserved Domains (2) summary
      smart00209
      Location:243 → 298
      TSP1; Thrombospondin type 1 repeats
      pfam05986
      Location:117 → 227
      ADAM_spacer1; ADAM-TS Spacer 1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      76622631..76675136 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054377217.1 → XP_054233192.1  A disintegrin and metalloproteinase with thrombospondin motifs 7 isoform X1

    2. XM_054377218.1 → XP_054233193.1  A disintegrin and metalloproteinase with thrombospondin motifs 7 isoform X2

    3. XM_054377219.1 → XP_054233194.1  A disintegrin and metalloproteinase with thrombospondin motifs 7 isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9UKP4.2 GenPept UniProtKB/Swiss-Prot:Q9UKP4

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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