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MIRAGE
collagen type IX alpha 1 chain
Summary
- Gene Symbol
-
- COL9A1
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- 3D-structure
- Alternative splicing
- Collagen
- Deafness
- Direct protein sequencing
- Disease variant
- Disulfide bond
- Extracellular matrix
- Glycoprotein
- Hydroxylation
- Metal-binding
- Reference proteome
- Repeat
- Signal
- Stickler syndrome
- Zinc
- Proteins
| UniProt | Protein Name |
|---|---|
| P20849 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| animal organ morphogenesis | ||
| extracellular matrix organization |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| extracellular space | ||
| extracellular region | ||
| collagen-containing extracellular matrix | ||
| endoplasmic reticulum lumen | ||
| collagen type IX trimer |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| carbohydrate binding | ||
| metal ion binding | ||
| extracellular matrix structural constituent conferring tensile strength | ||
| protein binding | ||
| protein homodimerization activity |
GO Hierarchy
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0070301 | multiple epiphyseal dysplasia 6 | |
| DOID:0080046 | Stickler syndrome | |
| DOID:2256 | osteochondrodysplasia | |
| DOID:8398 | osteoarthritis |
