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

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; 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

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_000015.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Diagnostic value of serum COMP and ADAMTS7 for intervertebral disc degeneration.
Title: Diagnostic value of serum COMP and ADAMTS7 for intervertebral disc degeneration.
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.
ADAMTS-7 Modulates Atherosclerotic Plaque Formation by Degradation of TIMP-1.
Title: ADAMTS-7 Modulates Atherosclerotic Plaque Formation by Degradation of TIMP-1.
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.
ADAMTS-7 deficiency attenuates thoracic aortic aneurysm and dissection in mice.
Title: ADAMTS-7 deficiency attenuates thoracic aortic aneurysm and dissection in mice.
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.
Coronary Disease Association With ADAMTS7 Is Due to Protease Activity.
Title: Coronary Disease Association With ADAMTS7 Is Due to Protease Activity.
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.
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.
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 EBI GWAS CatalogPubMed
Genome-wide association study of coronary and aortic calcification implicates risk loci for coronary artery disease and myocardial infarction. EBI GWAS Catalog EBI GWAS CatalogPubMed
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 EBI GWAS CatalogPubMed
Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants. EBI GWAS Catalog EBI GWAS CatalogPubMed

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

SHGC-146180 (e-PCR)
- UniSTS:172561

SHGC-146595 (e-PCR)
- UniSTS:182876

RH46878 (e-PCR)
- UniSTS:38575

ADAMTS7,_C.1468-4G>A (e-PCR)
- UniSTS:509929

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

EC 3.4.24.-

XP_011519468.1

EC 3.4.24.-

XP_047288078.1

EC 3.4.24.-

XP_047288079.1

EC 3.4.24.-

XP_054233192.1

EC 3.4.24.-

XP_054233193.1

EC 3.4.24.-

XP_054233194.1

EC 3.4.24.-

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

NG_011492.1 RefSeqGene

Range

4968..57226

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

NC_000015.10 Reference GRCh38.p14 Primary Assembly

Range

78759206..78811464 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047432122.1 → XP_047288078.1 A disintegrin and metalloproteinase with thrombospondin motifs 7 isoform X1
XM_047432123.1 → XP_047288079.1 A disintegrin and metalloproteinase with thrombospondin motifs 7 isoform X2
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

NC_060939.1 Alternate T2T-CHM13v2.0

Range

76622631..76675136 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054377217.1 → XP_054233192.1 A disintegrin and metalloproteinase with thrombospondin motifs 7 isoform X1
XM_054377218.1 → XP_054233193.1 A disintegrin and metalloproteinase with thrombospondin motifs 7 isoform X2
XM_054377219.1 → XP_054233194.1 A disintegrin and metalloproteinase with thrombospondin motifs 7 isoform X3