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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
collagen type I alpha 1 chain
Summary
- Gene Symbol
-
- COL1A1
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- 3D-structure
- Calcium
- Chromosomal rearrangement
- Collagen
- Direct protein sequencing
- Disease variant
- Disulfide bond
- Dwarfism
- Ehlers-Danlos syndrome
- Extracellular matrix
- Glycoprotein
- Hydroxylation
- Metal-binding
- Osteogenesis imperfecta
- Osteoporosis
- Phosphoprotein
- Pyrrolidone carboxylic acid
- Reference proteome
- Repeat
- Signal
- Proteins
| UniProt | Protein Name |
|---|---|
| P02452 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| sensory perception of sound | ||
| cellular response to fibroblast growth factor stimulus | ||
| cellular response to mechanical stimulus | ||
| negative regulation of cell-substrate adhesion | ||
| embryonic skeletal system development |
GO Hierarchy
biological process
cellular process [inference]
response to stimulus [inference]
response to external stimulus [inference]
response to endogenous stimulus [inference]
response to chemical [inference]
cellular response to stimulus [inference]
biological regulation [inference]
regulation of biological process [inference]
regulation of metabolic process [inference]
positive regulation of biological process [inference]
regulation of cellular process [inference]
| GO Term | Evidence Code | PMID |
|---|---|---|
| secretory granule | ||
| collagen-containing extracellular matrix | ||
| endoplasmic reticulum lumen | ||
| extracellular region | ||
| collagen type I trimer |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| protein binding | ||
| platelet-derived growth factor binding | ||
| metal ion binding | ||
| protease binding | ||
| identical protein binding |
GO Hierarchy
OrthoDB (Group)
- Group level
- Eukaryota
- Group Name
- collagen alpha
- Functional Category
-
- E: Amino acid transport and metabolism
- I: Lipid transport and metabolism
- T: Signal transduction mechanisms
| Gene Ontology |
|---|
| extracellular matrix organization |
| extracellular matrix structural constituent conferring tensile strength |
| extracellular matrix structural constituent |
| InterPro |
|---|
| Collagen triple helix repeat |
| Fibrillar collagen, C-terminal |
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0050827 | rheumatic heart disease | |
| DOID:0080162 | lupus nephritis | |
| DOID:0080208 | metabolic dysfunction-associated steatotic liver disease | |
| DOID:0080547 | metabolic dysfunction-associated steatohepatitis | |
| DOID:0080727 | Ehlers-Danlos syndrome arthrochalasia type 1 | |
| DOID:0110334 | osteogenesis imperfecta type 1 | |
| DOID:0110339 | osteogenesis imperfecta type 3 | |
| DOID:0110340 | osteogenesis imperfecta type 4 | |
| DOID:0110341 | osteogenesis imperfecta type 2 | |
| DOID:11476 | osteoporosis |
Ortholog
| Species | Gene ID | OrthoDB | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|---|
| 12842 | MGI:88467 | MOUSE07210 | ||
| 29393 | RGD:61817 | RATNO02521 | ||
| 282187 | BOVIN13067 | |||
| 325675 | ZFIN:ZDB-GENE-030131-4400 | |||
| 337158 | ZFIN:ZDB-GENE-030131-9102 | DANRE31666 | ||
| 380515 | Xenbase:XB-GENE-6253424 | |||
| 403651 | CANLF18887 | |||
| 443483 | SHEEP02923 | |||
| 496414 | Xenbase:XB-GENE-6258379 | |||
| 574201 | MACMU14488 |
