ADAMTS5 ADAM metallopeptidase with thrombospondin type 1 motif 5 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ADAMTS5provided by HGNC
Official Full Name: ADAM metallopeptidase with thrombospondin type 1 motif 5provided by HGNC
Primary source: HGNC:HGNC:221
See related: Ensembl:ENSG00000154736 MIM:605007; AllianceGenome:HGNC:221
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: ADMP-2; ADAM-TS5; ADAMTS-5; ADAMTS11; ADAM-TS 5; ADAMTS-11; ADAM-TS 11
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 enzyme. This enzyme contains two C-terminal TS motifs and functions as an aggrecanase that cleaves aggrecan, a major proteoglycan of cartilage, and may mediate cartilage destruction in osteoarthritis. [provided by RefSeq, Feb 2016]
Expression: Broad expression in ovary (RPKM 9.8), endometrium (RPKM 9.6) and 17 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 21q21.3

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	21	NC_000021.9 (26917922..26967088, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	21	NC_060945.1 (25276336..25326235, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	21	NC_000021.8 (28290241..28339407, complement)

Chromosome 21 - NC_000021.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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?

Association of ADAMTS-5 gene polymorphisms with the susceptibility to knee osteoarthritis in a Chinese Han population.
Title: Association of ADAMTS-5 gene polymorphisms with the susceptibility to knee osteoarthritis in a Chinese Han population.
SP1-mediated ADAMTS5 transcription promotes IL-1beta-induced chondrocyte injury via Wnt/beta-catenin pathway in osteoarthritis.
Title: SP1‑mediated ADAMTS5 transcription promotes IL‑1β‑induced chondrocyte injury via Wnt/β‑catenin pathway in osteoarthritis.
ADAMTS5 Promotes Permeability of the Blood-Brain Barrier during Treponema pallidum Subspecies pallidum Invading the Central Nervous System.
Title: ADAMTS5 Promotes Permeability of the Blood-Brain Barrier during Treponema pallidum Subspecies pallidum Invading the Central Nervous System.
Association of polymorphisms in ADAMTS-5 gene with the susceptibility to knee osteoarthritis: A protocol for systematic review and meta-analysis.
Title: Association of polymorphisms in ADAMTS-5 gene with the susceptibility to knee osteoarthritis: A protocol for systematic review and meta-analysis.
Differential DNA methylation analysis of SUMF2, ADAMTS5, and PXDN provides novel insights into colorectal cancer prognosis prediction in Taiwan.
Title: Differential DNA methylation analysis of SUMF2, ADAMTS5, and PXDN provides novel insights into colorectal cancer prognosis prediction in Taiwan.
Elevation of MMP1 and ADAMTS5 mRNA expression in glenohumeral synovia of patients with hypercholesterolemia.
Title: Elevation of MMP1 and ADAMTS5 mRNA expression in glenohumeral synovia of patients with hypercholesterolemia.
MicroRNA-148a targets ADAMTS5 to inhibit proliferation of endometriosis cells.
Title: MicroRNA-148a targets ADAMTS5 to inhibit proliferation of endometriosis cells.
The Decisive Case-Control Study Elaborates the Null Association between ADAMTS5 rs226794 and Osteoarthritis in Asians: A Case-Control Study and Meta-Analysis.
Title: The Decisive Case-Control Study Elaborates the Null Association between ADAMTS5 rs226794 and Osteoarthritis in Asians: A Case-Control Study and Meta-Analysis.
Extracellular Matrix in Heart Failure: Role of ADAMTS5 in Proteoglycan Remodeling.
Title: Extracellular Matrix in Heart Failure: Role of ADAMTS5 in Proteoglycan Remodeling.
Long non-coding RNA XIST regulates chondrogenic differentiation of synovium-derived mesenchymal stem cells from temporomandibular joint via miR-27b-3p/ADAMTS-5 axis.
Title: Long non-coding RNA XIST regulates chondrogenic differentiation of synovium-derived mesenchymal stem cells from temporomandibular joint via miR-27b-3p/ADAMTS-5 axis.

Submit: New GeneRIF Correction See all GeneRIFs (109)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association scan for survival on dialysis in African-Americans with type 2 diabetes. 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)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of ADAM metallopeptidase with thrombospondin type 1 motif, 5 (ADAMTS5) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-87515 (e-PCR)
- UniSTS:69639

STS-H13278 (e-PCR)
- UniSTS:56843

Adamts5 (e-PCR), detects polymorphism
- UniSTS:534410

RH92546 (e-PCR)
- UniSTS:85645

RH92793 (e-PCR)
- UniSTS:91546

SHGC-87525 (e-PCR)
- UniSTS:23039

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables endopeptidase activity	ISS Inferred from Sequence or Structural Similarity more info
enables extracellular matrix binding	IEA Inferred from Electronic Annotation more info
enables heparin binding	IEA Inferred from Electronic Annotation more info
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables integrin binding	TAS Traceable Author Statement more info	PubMed
enables metalloendopeptidase activity	IBA Inferred from Biological aspect of Ancestor more info
enables metalloendopeptidase activity	IDA Inferred from Direct Assay more info	PubMed
enables metalloendopeptidase activity	TAS Traceable Author Statement more info
enables metallopeptidase activity	IDA Inferred from Direct Assay more info	PubMed
enables peptidase activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables zinc ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in aortic valve morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in defense response to bacterium	IEA Inferred from Electronic Annotation more info
involved_in endocardial cushion morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in extracellular matrix disassembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in extracellular matrix disassembly	TAS Traceable Author Statement more info
involved_in extracellular matrix organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in myoblast fusion	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of cold-induced thermogenesis	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in proteolysis	IBA Inferred from Biological aspect of Ancestor more info
involved_in proteolysis	IEA Inferred from Electronic Annotation more info
involved_in pulmonary valve morphogenesis	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in collagen-containing extracellular matrix	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	TAS Traceable Author Statement more info
located_in extracellular space	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: A disintegrin and metalloproteinase with thrombospondin motifs 5

Names: a disintegrin and metalloproteinase with thrombospondin motifs 11; a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 5 (aggrecanase-2); aggrecanase-2

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.

mRNA and Protein(s)

NM_007038.5 → NP_008969.2 A disintegrin and metalloproteinase with thrombospondin motifs 5 preproprotein

See identical proteins and their annotated locations for NP_008969.2

Status: REVIEWED

Source sequence(s)

AF142099, AK094057, AP001600, AP001601, CA313018

Consensus CDS

CCDS13579.1

UniProtKB/Swiss-Prot

Q52LV4, Q9UKP2, Q9UNA0

Related

ENSP00000284987.5, ENST00000284987.6

Conserved Domains (4) summary

smart00209
Location:570 → 622

TSP1; Thrombospondin type 1 repeats

cd04273
Location:269 → 473

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 ...

pfam01562
Location:67 → 168

Pep_M12B_propep; Reprolysin family propeptide

pfam05986
Location:732 → 852

ADAM_spacer1; ADAM-TS Spacer 1

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_000021.9 Reference GRCh38.p14 Primary Assembly

Range

26917922..26967088 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047440680.1 → XP_047296636.1 A disintegrin and metalloproteinase with thrombospondin motifs 5 isoform X1

Alternate T2T-CHM13v2.0

Genomic

NC_060945.1 Alternate T2T-CHM13v2.0

Range

25276336..25326235 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054324327.1 → XP_054180302.1 A disintegrin and metalloproteinase with thrombospondin motifs 5 isoform X2
XM_054324326.1 → XP_054180301.1 A disintegrin and metalloproteinase with thrombospondin motifs 5 isoform X2
XM_054324328.1 → XP_054180303.1 A disintegrin and metalloproteinase with thrombospondin motifs 5 isoform X1