ADAMTSL1 Gene
ADAMTS Like 1: A Secreted Glycoprotein Involved in Extracellular Matrix Organization and Connective Tissue Disorders
Gene Information Card
| Symbol | ADAMTSL1 |
|---|---|
| Full Name | ADAMTS Like 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 9p22.3 |
| NCBI Gene ID | 92949 ncbi.nlm.nih.gov/gene/92949 |
| Ensembl ID | ENSG00000178031 |
| UniProt ID | Q8N6G6 |
| OMIM ID | 609199 |
| HGNC ID | 14632 |
| Aliases | ADAMTSL-1, ADAMTSL1A, ADAMTSL1B, PUNC, PUNC1 |
Description
ADAMTSL1 (ADAMTS Like 1) is a protein-coding gene that encodes a secreted glycoprotein belonging to the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) superfamily, but lacking the catalytic metalloproteinase domain. The protein is involved in extracellular matrix (ECM) organization, cell adhesion, and microfibril assembly. It is expressed in various tissues, including heart, skeletal muscle, and placenta. Mutations in ADAMTSL1 have been associated with connective tissue disorders, particularly those affecting the cardiovascular and musculoskeletal systems.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Connective tissue disorder (unspecified) | Disruption of ECM organization due to loss of ADAMTSL1 function | Limited case reports; OMIM #609199 |
| Cardiovascular abnormalities | Impaired microfibril assembly leading to vascular fragility | Inferred from functional studies; not yet confirmed in large cohorts |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.3 | Medium |
| Skeletal Muscle | 9.8 | Medium |
| Placenta | 15.1 | Medium |
| Lung | 6.2 | Low |
| Kidney | 4.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HUVEC (umbilical vein endothelial) | 8.7 | Moderate expression |
| Cardiomyocytes (iPS-derived) | 11.2 | Moderate expression |
| Fibroblasts (skin) | 5.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.01% | Premature truncation, likely loss of function |
| c.567G>A (p.Trp189*) | Nonsense | <0.01% | Premature truncation, likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (p.Arg412*, p.Trp189*) are predicted to cause loss of function via nonsense-mediated decay or truncated protein.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • GO:0005576 - extracellular region | • GO:0005615 - extracellular space |
| • GO:0030198 - extracellular matrix organization | • GO:0007155 - cell adhesion |
Pathways
• Extracellular matrix organization (Reactome: R-HSA-1474244)
• ADAMTS-mediated cleavage of proteoglycans (Reactome: R-HSA-2467813)
Protein Summary
The ADAMTSL1 protein is a secreted glycoprotein of approximately 1,200 amino acids. It contains thrombospondin type 1 repeats and a PLAC (protease and lacunin) domain, but lacks the catalytic metalloproteinase domain characteristic of ADAMTS proteases. It localizes to the extracellular matrix and is thought to modulate microfibril assembly and cell-matrix interactions. The protein is expressed in heart, skeletal muscle, and placenta, and may play a role in connective tissue integrity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ADAMTSL1 Knockout HEK293 Cell Line | EDJ-KQ11121 | Human | 92949 | Details Get a Quote |
| ADAMTSL1 Knockout HeLa Cell Line | EDJ-KQ57849 | Human | 92949 | Details Get a Quote |
| ADAMTSL1 Knockout A-549 Cell Line | EDJ-KQ66348 | Human | 92949 | Details Get a Quote |
| ADAMTSL1 Knockout HCT 116 Cell Line | EDJ-KQ74771 | Human | 92949 | Details Get a Quote |
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