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MIRAGE
collagen type XVII alpha 1 chain
Summary
- Gene Symbol
-
- COL17A1
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- Alternative splicing
- Basement membrane
- Cell junction
- Collagen
- Direct protein sequencing
- Disease variant
- Disulfide bond
- Epidermolysis bullosa
- Glycoprotein
- Hydroxylation
- Phosphoprotein
- Reference proteome
- Repeat
- Signal-anchor
- Transmembrane helix
- Proteins
| UniProt | Protein Name |
|---|---|
| Q9UMD9 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| cell-matrix adhesion | ||
| epidermis development | ||
| extracellular matrix organization | ||
| hemidesmosome assembly |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| extracellular region | ||
| collagen trimer | ||
| basement membrane | ||
| extracellular space | ||
| endoplasmic reticulum lumen |
GO Hierarchy
GO Hierarchy
OrthoDB (Group)
- Group level
- Eukaryota
- Group Name
- collagen alpha-1 chain
- Functional Category
-
- O: Posttranslational modification, protein turnover, chaperones
- Q: Secondary metabolites biosynthesis, transport and catabolism
- T: Signal transduction mechanisms
| Gene Ontology |
|---|
| extracellular matrix organization |
| extracellular matrix structural constituent conferring tensile strength |
| InterPro |
|---|
| Collagen triple helix repeat |
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0070337 | epithelial recurrent erosion dystrophy | |
| DOID:3209 | junctional epidermolysis bullosa |
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 1308 | Xenbase:XB-GENE-6467921 | ||
| 12821 | Xenbase:XB-GENE-6467921 | MOUSE26662 | |
| 294027 | RATNO20613 | ||
| 513804 | BOVIN21477 | ||
| 100231483 | TAEGU27345 | ||
| 100339335 | RABIT07000 | ||
| 100399128 | CALJA06943 | ||
| 100452122 | PONAB02312 | ||
| 100604365 | NOMLE26620 | ||
| 100675845 | LOXAF15451 |
