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ADAMTS like 1
Summary
- Gene Symbol
-
- ADAMTSL1
- Aliases
-
- ADAMTSR1
- FLJ35283
- punctin
- punctin-1
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- Alternative splicing
- Direct protein sequencing
- Disulfide bond
- Extracellular matrix
- Glycoprotein
- Hydrolase
- Immunoglobulin domain
- Proteomics identification
- Reference proteome
- Repeat
- Signal
- Proteins
| UniProt | Protein Name |
|---|---|
| Q8N6G6 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| extracellular matrix organization |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| extracellular region | ||
| endoplasmic reticulum lumen |
| GO Term | Evidence Code | PMID |
|---|---|---|
| hydrolase activity |
OrthoDB (Group)
- Group level
- Eukaryota
- Group Name
- ADAMTS-like protein 1-like
- Functional Category
-
- O: Posttranslational modification, protein turnover, chaperones
- T: Signal transduction mechanisms
- X: Mobilome: prophages, transposons
| Gene Ontology |
|---|
| extracellular matrix organization |
| InterPro |
|---|
| Immunoglobulin-like domain |
| Thrombospondin type-1 (TSP1) repeat superfamily |
| Thrombospondin type-1 (TSP1) repeat |
Disease
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000077 | Abnormality of the kidney |
| HP:0000248 | Brachycephaly |
| HP:0000252 | Microcephaly |
| HP:0000303 | Mandibular prognathia |
| HP:0000321 | Square face |
| HP:0000322 | Short philtrum |
| HP:0000400 | Macrotia |
| HP:0000431 | Wide nasal bridge |
| HP:0000541 | Retinal detachment |
| HP:0000545 | Myopia |
| Disease ID | Disease Name |
|---|---|
| ORPHA:521445 |
|
