ADAMTSL4 Gene Summary [Human]
This gene is a member of ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs)-like gene family and encodes a protein with seven thrombospondin type 1 repeats. The thrombospondin type 1 repeat domain is found in many proteins with diverse biological functions including cellular adhesion, angiogenesis, and patterning of the developing nervous system. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Sep 2014]
Details
| Type | Protein Coding |
| Official Symbol | ADAMTSL4 |
| Official Name | ADAMTS like 4 [Source:HGNC Symbol;Acc:HGNC:19706] |
| Ensembl ID | ENSG00000143382 |
| Bio databases IDs | |
| Aliases | ADAMTS like 4 |
| Synonyms | ADAMTS-like 4, ECTOL2, FLJ13544, LOC100996516, LOC105371437, LOC107983947, TSRC1 |
| 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 ADAMTSL4 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
- protease binding
- ADAMTS cysteine-rich domain
- PLAC (protease and lacunin) domain
- protein binding
- Spondin-like TSP1 domain
- identical protein binding
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
- prostate cancer
- heart failure
- craniosynostosis with ectopia lentis
- autosomal recessive isolated ectopia lentis
- organismal death
- hereditary disorder
- ectopia lentis et pupillae
- ectopia lentis
- isolated ectopia lentis
role in cell
- apoptosis
- organization
- development
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
- endoplasmic reticulum lumen
- extracellular matrix
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ADAMTSL4 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- pigment cell development
- positive regulation of apoptotic process
- apoptotic process
- extracellular matrix organization
- epithelial cell development
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum lumen
- interstitial matrix
- extracellular region
Molecular Function
What the gene product does at the molecular level
- protein binding
- protease binding