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MIRAGE
collagen type XII alpha 1 chain
Summary
- Gene Symbol
-
- COL12A1
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- Alternative splicing
- Cell adhesion
- Collagen
- Congenital muscular dystrophy
- Direct protein sequencing
- Disease variant
- Disulfide bond
- Extracellular matrix
- Hydroxylation
- Proteoglycan
- Proteomics identification
- Reference proteome
- Repeat
- Signal
- Proteins
| UniProt | Protein Name |
|---|---|
| Q99715 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| cell adhesion | ||
| collagen fibril organization | ||
| endodermal cell differentiation | ||
| endodermal cell differentiation |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| collagen-containing extracellular matrix | ||
| extracellular exosome | ||
| extracellular vesicle |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| extracellular matrix structural constituent conferring tensile strength | ||
| extracellular matrix structural constituent conferring tensile strength |
OrthoDB (Group)
- Group level
- Eukaryota
- Group Name
- Collagen alpha-1(XII) chain
- Functional Category
-
- E: Amino acid transport and metabolism
- G: Carbohydrate transport and metabolism
- T: Signal transduction mechanisms
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0050663 | Bethlem myopathy | |
| DOID:0060948 | Ullrich congenital muscular dystrophy 2 |
