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

Gene ID: 11173, updated on 11-Sep-2019

Summary

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
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

Genomic context

See ADAMTS7 in Genome Data Viewer
Location:
15q25.1
Exon count:
25
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 15 NC_000015.10 (78759203..78811476, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (79051545..79103805, complement)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC112268143 Neighboring gene TBC1 domain family member 2B pseudogene Neighboring gene relaxin family peptide receptor 3 pseudogene Neighboring gene tRNA-Lys (anticodon CTT) 1-2

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

NHGRI GWAS Catalog

Description
A genome-wide association study in Europeans and South Asians identifies five new loci for coronary artery disease.
NHGRI GWA Catalog
Genome-wide association study of coronary and aortic calcification implicates risk loci for coronary artery disease and myocardial infarction.
NHGRI GWA 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.
NHGRI GWA Catalog
Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease.
NHGRI GWA Catalog
Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.
NHGRI GWA Catalog

Pathways from BioSystems

  • 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...
  • 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...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • DKFZp434H204

Gene Ontology Provided by GOA

Function Evidence Code Pubs
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
metalloendopeptidase activity IDA
Inferred from Direct Assay
more info
PubMed 
metallopeptidase activity TAS
Traceable Author Statement
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
cell surface IEA
Inferred from Electronic Annotation
more info
 
endoplasmic reticulum lumen TAS
Traceable Author Statement
more info
 
extracellular region IEA
Inferred from Electronic Annotation
more info
 

General protein information

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_005254194.1
XP_011519468.1

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_011492.1 RefSeqGene

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

mRNA and Protein(s)

  1. NM_014272.5NP_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
    Q9UKP4
    UniProtKB/TrEMBL
    Q9UFZ4
    Related
    ENSP00000373472.4, ENST00000388820.5
    Conserved Domains (6) summary
    smart00209
    Location:541593
    TSP1; Thrombospondin type 1 repeats
    cd04273
    Location:242449
    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:242452
    Reprolysin; Reprolysin (M12B) family zinc metalloprotease
    pfam01562
    Location:68183
    Pep_M12B_propep; Reprolysin family propeptide
    pfam05986
    Location:699809
    ADAM_spacer1; ADAM-TS Spacer 1
    cl15456
    Location:474530
    ADAM_CR; ADAM cysteine-rich

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p13 Primary Assembly

    Range
    78759203..78811476 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005254137.4XP_005254194.1  A disintegrin and metalloproteinase with thrombospondin motifs 7 isoform X1

    Conserved Domains (6) summary
    smart00209
    Location:541593
    TSP1; Thrombospondin type 1 repeats
    cd04273
    Location:242449
    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:242452
    Reprolysin; Reprolysin (M12B) family zinc metalloprotease
    pfam01562
    Location:68183
    Pep_M12B_propep; Reprolysin family propeptide
    pfam05986
    Location:699809
    ADAM_spacer1; ADAM-TS Spacer 1
    cl15456
    Location:474530
    ADAM_CR; ADAM cysteine-rich
  2. XM_011521166.2XP_011519468.1  A disintegrin and metalloproteinase with thrombospondin motifs 7 isoform X2

    Conserved Domains (2) summary
    smart00209
    Location:243298
    TSP1; Thrombospondin type 1 repeats
    pfam05986
    Location:117227
    ADAM_spacer1; ADAM-TS Spacer 1
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