ADAMTS3
ADAM Metallopeptidase with Thrombospondin Type 1 Motif 3
Gene Information Card
| Symbol | ADAMTS3 |
|---|---|
| Full Name | ADAM metallopeptidase with thrombospondin type 1 motif 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 4q13.3 |
| NCBI Gene ID | 9508 ncbi.nlm.nih.gov/gene/9508 |
| Ensembl ID | ENSG00000138668 |
| UniProt ID | O15072 |
| OMIM ID | 605011 |
| HGNC ID | 219 |
| Aliases | ADAMTS-3, KIAA0366, procollagen I N-proteinase |
Description
ADAMTS3 encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) family of zinc-dependent proteases. The protein functions as a procollagen N-endopeptidase, specifically cleaving the N-terminal propeptides of procollagen types I, II, and III, which is essential for proper collagen fibril assembly. Additionally, ADAMTS3 plays a critical role in lymphatic vascular development by proteolytically activating vascular endothelial growth factor C (VEGFC). Mutations in this gene are associated with Hennekam lymphangiectasia-lymphedema syndrome and other lymphatic disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hennekam lymphangiectasia-lymphedema syndrome | Loss-of-function mutations impair VEGFC activation, disrupting lymphatic development | OMIM #235510; ClinVar |
| Lymphedema, hereditary | Defective collagen processing and lymphatic vessel formation | ClinVar; PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 12.5 | Medium |
| Skin | 8.3 | Medium |
| Lung | 6.1 | Low |
| Heart | 4.7 | Low |
| Liver | 1.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HUVEC | 15.2 | Endothelial cells |
| HEK 293 | 3.8 | Embryonic kidney |
| HeLa | 1.5 | Cervical carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1075C>T (p.Arg359*) | Nonsense | Rare | Loss of function; truncated protein |
| c.1648G>A (p.Gly550Arg) | Missense | Rare | Impaired catalytic activity |
| c.2410delC | Frameshift | Rare | Premature termination; loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated or absent protein; missense mutations in the catalytic domain reducing protease activity.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • metalloendopeptidase activity | • procollagen N-endopeptidase activity |
| • extracellular matrix organization | • lymphangiogenesis |
| • proteolysis | • zinc ion binding |
Pathways
• Collagen biosynthesis and modifying enzymes
• VEGFA-VEGFR2 signaling pathway
• Lymphatic vessel development
Protein Summary
ADAMTS3 is a secreted multidomain protease comprising a signal peptide, prodomain, catalytic domain with zinc-binding motif, disintegrin-like domain, thrombospondin type 1 repeats, and a C-terminal PLAC domain. It is synthesized as a zymogen and activated by furin cleavage. The mature enzyme processes procollagen N-propeptides and activates VEGFC, thereby regulating extracellular matrix assembly and lymphatic endothelial cell proliferation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ADAMTS3 Knockout HEK293 Cell Line | EDJ-KQ3935 | Human | 9508 | Details Get a Quote |
| ADAMTS3 Knockout HeLa Cell Line | EDJ-KQ26173 | Human | 9508 | Details Get a Quote |
| ADAMTS3 Knockout A-549 Cell Line | EDJ-KQ63664 | Human | 9508 | Details Get a Quote |
| ADAMTS3 Knockout HCT 116 Cell Line | EDJ-KQ72125 | Human | 9508 | Details Get a Quote |
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