ADAMTSL1 Gene Summary [Human]
This gene encodes a secreted protein and member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motif) family. This protein lacks the metalloproteinase and disintegrin-like domains, which are typical of the ADAMTS family, but contains other ADAMTS domains, including the thrombospondin type 1 motif. This protein may have important functions in the extracellular matrix. Alternative splicing results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | ADAMTSL1 |
| Official Name | ADAMTS like 1 [Source:HGNC Symbol;Acc:HGNC:14632] |
| Ensembl ID | ENSG00000178031 |
| Bio databases IDs | |
| Aliases | ADAMTS like 1, punctin, punctin-1 |
| Synonyms | 5930437A14RIK, 6720426B09Rik, AABR07049085.1, ADAMTS-like 1, ADAMTSR1, C9orf94, LOC683529, PUNCTIN |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human ADAMTSL1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Thrombospondin type 1 repeats
- Thrombospondin type 1 domain
- ADAM-TS Spacer 1
- immunoglobulin domain
- ADAMTS cysteine-rich domain
- Immunoglobulin like
- Immunoglobulin I-set domain
- PLAC (protease and lacunin) domain
- Spondin-like TSP1 domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- epithelial cancer
- adenoma formation
- multiple sclerosis
- psoriasis
- major depression
- prostatic carcinoma
- prostate cancer
- chronic obstructive pulmonary disease
- suicide attempt
- myopia
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Extracellular Space
- extracellular matrix fraction
- endoplasmic reticulum lumen
- extracellular matrix
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ADAMTSL1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- extracellular matrix organization
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum lumen
- extracellular region
Molecular Function
What the gene product does at the molecular level
- hydrolase activity