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MIRAGE
Collagen alpha-1(I) chain
Summary
- UniProt ID
- P02452
- Gene Symbol
- COL1A1
- Gene ID
- 1277
- 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 Proteomics identification Pyrrolidone carboxylic acid Reference proteome Repeat Signal
Gene Ontology (GO)
| GO Term | Evidence Code | Reference |
|---|---|---|
| skeletal system development | ||
| blood vessel development | ||
| osteoblast differentiation | ||
| intramembranous ossification |
|
|
| endochondral ossification |
|
|
GO Hierarchy
biological process
cellular process [inference]
response to stimulus [inference]
biological regulation [inference]
regulation of biological process [inference]
positive regulation of biological process [inference]
regulation of cellular process [inference]
GO Hierarchy
| GO Term | Evidence Code | Reference |
|---|---|---|
| protease binding | ||
| extracellular matrix structural constituent conferring tensile strength | ||
| extracellular matrix structural constituent conferring tensile strength | ||
| identical protein binding | ||
| identical protein binding |
GO Hierarchy
Sequence
MFSFVDLRLLLLLAATALLTHGQEEGQVEGQDEDIPPITCVQNGLRYHDRDVWKPEPCRICVCDNGKVLCDDVICDETKNCPGAEVPEGECCPVCPDGSESPTDQETTGVEGPKGDTGPRGPRGPAGPPGRDGIPGQPGLPGPPGPPGPPGPPGLGGNFAPQLSYGYDEKSTGGISVPGPMGPSGPRGLPGPPGAPGPQGFQGPPGEPGEPGASGPMGPRGPPGPPGKNGDDGEAGKPGRPGERGPPGPQGARGLPGTAGLPGMKGHRGFSGLDGAKGDAGPAGPKGEPGSPGENGAPGQMGPRGLPGERGRPGAPGPAGARGNDGATGAAGPPGPTGPAGPPGFPGAVGAKGEAGPQGPRGSEGPQGVRGEPGPPGPAGAAGPAGNPGADGQPGAKGANGAPGIAGAPGFPGARGPSGPQGPGGPPGPKGNSGEPGAPGSKGDTGAKGEPGPVGVQGPPGPAGEEGKRGARGEPGPTGLPGPPGERGGPGSRGFPGADGVAGPKGPAGERGSPGPAGPKGSPGEAGRPGEAGLPGAKGLTGSPGSPGPDGKTGPPGPAGQDGRPGPPGPPGARGQAGVMGFPGPKGAAGEPGKAGERGVPGPPGAVGPAGKDGEAGAQGPPGPAGPAGERGEQGPAGSPGFQGLPGPAGPPGEAGKPGEQGVPGDLGAPGPSGARGERGFPGERGVQGPPGPAGPRGANGAPGNDGAKGDAGAPGAPGSQGAPGLQGMPGERGAAGLPGPKGDRGDAGPKGADGSPGKDGVRGLTGPIGPPGPAGAPGDKGESGPSGPAGPTGARGAPGDRGEPGPPGPAGFAGPPGADGQPGAKGEPGDAGAKGDAGPPGPAGPAGPPGPIGNVGAPGAKGARGSAGPPGATGFPGAAGRVGPPGPSGNAGPPGPPGPAGKEGGKGPRGETGPAGRPGEVGPPGPPGPAGEKGSPGADGPAGAPGTPGPQGIAGQRGVVGLPGQRGERGFPGLPGPSGEPGKQGPSGASGERGPPGPMGPPGLAGPPGESGREGAPGAEGSPGRDGSPGAKGDRGETGPAGPPGAPGAPGAPGPVGPAGKSGDRGETGPAGPAGPVGPVGARGPAGPQGPRGDKGETGEQGDRGIKGHRGFSGLQGPPGPPGSPGEQGPSGASGPAGPRGPPGSAGAPGKDGLNGLPGPIGPPGPRGRTGDAGPVGPPGPPGPPGPPGPPSAGFDFSFLPQPPQEKAHDGGRYYRADDANVVRDRDLEVDTTLKSLSQQIENIRSPEGSRKNPARTCRDLKMCHSDWKSGEYWIDPNQGCNLDAIKVFCNMETGETCVYPTQPSVAQKNWYISKNPKDKRHVWFGESMTDGFQFEYGGQGSDPADVAIQLTFLRLMSTEASQNITYHCKNSVAYMDQQTGNLKKALLLQGSNEIEIRAEGNSRFTYSVTVDGCTSHTGAWGKTVIEYKTTKTSRLPIIDVAPLDVGAPDQEFGFDVGPVCFL
Glycosylation Sites
| Position | Description | PubMed ID | GlyTouCan ID | Source |
|---|---|---|---|---|
| 103 |
|
|||
| 172 |
|
|||
| 265 |
|
|
||
| 337 |
|
|
||
| 473 |
|
|||
| 478 |
|
|||
| 539 |
|
|||
| 673 |
|
|||
| 793 |
|
|
||
| 866 |
|
G43417UB
G57321FI
G49108TO
Feature
: Glycosylation Site from GlyGen
: Glycosylation Site from UniProt
Pathway
| Pathway Name | Organism |
|---|---|
| Anchoring fibril formation | Homo sapiens |
| Assembly of collagen fibrils and other multimeric structures | Homo sapiens |
| Cell surface interactions at the vascular wall | Homo sapiens |
| Collagen biosynthesis and modifying enzymes | Homo sapiens |
| Collagen chain trimerization | Homo sapiens |
| Collagen degradation | Homo sapiens |
| Crosslinking of collagen fibrils | Homo sapiens |
| Defective VWF binding to collagen type I | Homo sapiens |
| Defective VWF cleavage by ADAMTS13 variant | Homo sapiens |
| Defective binding of VWF variant to GPIb:IX:V | Homo sapiens |
Human Protein Atlas
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
Disease
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:4257 | Caffey disease | |
| DOID:9111 | cutaneous leishmaniasis | |
| DOID:11476 | osteoporosis | |
| DOID:12185 | otosclerosis | |
| DOID:4154 | dentinogenesis imperfecta | |
| DOID:90 | degenerative disc disease | |
| DOID:0110340 | osteogenesis imperfecta type 4 | |
| DOID:12347 | osteogenesis imperfecta | |
| DOID:0080727 | Ehlers-Danlos syndrome arthrochalasia type 1 | |
| DOID:0110341 | osteogenesis imperfecta type 2 |
