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

Gene ID: 11173, updated on 2-Nov-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
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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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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)

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

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