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collagen type VI alpha 3 chain
Summary
- Gene Symbol
-
- COL6A3
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- 3D-structure
- Alternative splicing
- Cell adhesion
- Collagen
- Congenital muscular dystrophy
- Direct protein sequencing
- Disease variant
- Disulfide bond
- Dystonia
- Extracellular matrix
- Glycoprotein
- Hydroxylation
- Phosphoprotein
- Reference proteome
- Repeat
- Serine protease inhibitor
- Signal
- Proteins
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| cell adhesion | ||
| muscle organ development | ||
| response to UV | ||
| response to glucose | ||
| negative regulation of peptidase activity |
|
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| extracellular region | ||
| extracellular region | ||
| collagen type VI trimer | ||
| extracellular space | ||
| extracellular space |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| serine-type endopeptidase inhibitor activity | ||
| extracellular matrix structural constituent conferring tensile strength | ||
| extracellular matrix structural constituent conferring tensile strength |
GO Hierarchy
OrthoDB (Group)
- Group level
- Eukaryota
- Group Name
- tyrosinase
- Functional Category
-
- E: Amino acid transport and metabolism
- Q: Secondary metabolites biosynthesis, transport and catabolism
- T: Signal transduction mechanisms
| Gene Ontology |
|---|
| metal ion binding |
| oxidoreductase activity |
| InterPro |
|---|
| Di-copper centre-containing domain superfamily |
| Tyrosinase copper-binding domain |
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0050663 | Bethlem myopathy | |
| DOID:0060943 | Ullrich congenital muscular dystrophy 1C | |
| DOID:0090050 | dystonia 27 | |
| DOID:1070 | primary open angle glaucoma | |
| DOID:10763 | hypertension | |
| DOID:13223 | uterine fibroid | |
| DOID:2033 | communication disorder | |
| DOID:5844 | myocardial infarction | |
| DOID:784 | chronic kidney disease | |
| DOID:9884 | muscular dystrophy |
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 1293 | ZFIN:ZDB-GENE-070501-8 | ||
| 12835 | ZFIN:ZDB-GENE-070501-8 | MOUSE29165 | |
| 182256 | ZFIN:ZDB-GENE-070501-8 | ||
| 367313 | RATNO42317 | ||
| 403582 | CANLF10126 | ||
| 443051 | SHEEP00056 | ||
| 460045 | PANTR30128 | ||
| 530657 | BOVIN27411 | ||
| 694701 | MACMU05645 | ||
| 100066356 | HORSE36606 |
