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MIRAGE
Collagen alpha-1(II) chain
Summary
- UniProt ID
- P02458
- Gene Symbol
-
- COL2A1
- Gene ID
- 1280
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- 3D-structure
- Alternative splicing
- Calcium
- Cataract
- Collagen
- Deafness
- Direct protein sequencing
- Disease variant
- Disulfide bond
- Dwarfism
- Extracellular matrix
- Glycoprotein
- Hydroxylation
- Metal-binding
- Proteomics identification
- Reference proteome
- Repeat
- Signal
- Stickler syndrome
- Gene Ontology (GO)
Sequence
MIRLGAPQTLVLLTLLVAAVLRCQGQDVQEAGSCVQDGQRYNDKDVWKPEPCRICVCDTGTVLCDDIICEDVKDCLSPEIPFGECCPICPTDLATASGQPGPKGQKGEPGDIKDIVGPKGPPGPQGPAGEQGPRGDRGDKGEKGAPGPRGRDGEPGTPGNPGPPGPPGPPGPPGLGGNFAAQMAGGFDEKAGGAQLGVMQGPMGPMGPRGPPGPAGAPGPQGFQGNPGEPGEPGVSGPMGPRGPPGPPGKPGDDGEAGKPGKAGERGPPGPQGARGFPGTPGLPGVKGHRGYPGLDGAKGEAGAPGVKGESGSPGENGSPGPMGPRGLPGERGRTGPAGAAGARGNDGQPGPAGPPGPVGPAGGPGFPGAPGAKGEAGPTGARGPEGAQGPRGEPGTPGSPGPAGASGNPGTDGIPGAKGSAGAPGIAGAPGFPGPRGPPGPQGATGPLGPKGQTGEPGIAGFKGEQGPKGEPGPAGPQGAPGPAGEEGKRGARGEPGGVGPIGPPGERGAPGNRGFPGQDGLAGPKGAPGERGPSGLAGPKGANGDPGRPGEPGLPGARGLTGRPGDAGPQGKVGPSGAPGEDGRPGPPGPQGARGQPGVMGFPGPKGANGEPGKAGEKGLPGAPGLRGLPGKDGETGAAGPPGPAGPAGERGEQGAPGPSGFQGLPGPPGPPGEGGKPGDQGVPGEAGAPGLVGPRGERGFPGERGSPGAQGLQGPRGLPGTPGTDGPKGASGPAGPPGAQGPPGLQGMPGERGAAGIAGPKGDRGDVGEKGPEGAPGKDGGRGLTGPIGPPGPAGANGEKGEVGPPGPAGSAGARGAPGERGETGPPGPAGFAGPPGADGQPGAKGEQGEAGQKGDAGAPGPQGPSGAPGPQGPTGVTGPKGARGAQGPPGATGFPGAAGRVGPPGSNGNPGPPGPPGPSGKDGPKGARGDSGPPGRAGEPGLQGPAGPPGEKGEPGDDGPSGAEGPPGPQGLAGQRGIVGLPGQRGERGFPGLPGPSGEPGKQGAPGASGDRGPPGPVGPPGLTGPAGEPGREGSPGADGPPGRDGAAGVKGDRGETGAVGAPGAPGPPGSPGPAGPTGKQGDRGEAGAQGPMGPSGPAGARGIQGPQGPRGDKGEAGEPGERGLKGHRGFTGLQGLPGPPGPSGDQGASGPAGPSGPRGPPGPVGPSGKDGANGIPGPIGPPGPRGRSGETGPAGPPGNPGPPGPPGPPGPGIDMSAFAGLGPREKGPDPLQYMRADQAAGGLRQHDAEVDATLKSLNNQIESIRSPEGSRKNPARTCRDLKLCHPEWKSGDYWIDPNQGCTLDAMKVFCNMETGETCVYPNPANVPKKNWWSSKSKEKKHIWFGETINGGFHFSYGDDNLAPNTANVQMTFLRLLSTEGSQNITYHCKNSIAYLDEAAGNLKKALLIQGSNDVEIRAEGNSRFTYTALKDGCTKHTGKWGKTVIEYRSQKTSRLPIIDIAPMDIGGPEQEFGVDIGPVCFL
Glycosylation Sites
| Position | Description | PubMed ID | GlyTouCan ID | Source |
|---|---|---|---|---|
| 157 |
|
|
||
| 190 | O-linked (Gal...) hydroxylysine |
|
||
| 280 |
|
|
||
| 287 | O-linked (Gal...) hydroxylysine |
|
||
| 299 | O-linked (Gal...) hydroxylysine |
|
||
| 308 | O-linked (Gal...) hydroxylysine |
|
||
| 317 |
|
|||
| 374 | O-linked (Gal...) hydroxylysine |
|
||
| 380 |
|
|
||
| 397 |
|
|
G62765YT
Feature
: Glycosylation Site from GlyGen
: Glycosylation Site from UniProt
Pathway
| Pathway Name | Organism |
|---|---|
| Assembly of collagen fibrils and other multimeric structures | Homo sapiens |
| Collagen biosynthesis and modifying enzymes | Homo sapiens |
| Collagen chain trimerization | Homo sapiens |
Disease
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:1123 | spondyloarthropathy | |
| DOID:11830 | myopia | |
| DOID:14415 | Legg-Calve-Perthes disease | |
| DOID:14789 | spondyloepiphyseal dysplasia congenita | |
| DOID:2256 | osteochondrodysplasia | |
| DOID:3371 | chondrosarcoma | |
| DOID:5327 | retinal detachment | |
| DOID:5614 | eye disease | |
| DOID:674 | cleft palate | |
| DOID:8398 | osteoarthritis |
