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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
- 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:0080028 | spondyloepimetaphyseal dysplasia, Strudwick type | |
| DOID:0080045 | Kniest dysplasia | |
| DOID:0080046 | Stickler syndrome | |
| DOID:0080056 | achondrogenesis type II | |
| DOID:0080676 | Stickler syndrome 1 | |
| DOID:0111348 | multiple epiphyseal dysplasia with myopia and deafness | |
| DOID:0111508 | Torrance type platyspondylic dysplasia | |
| DOID:0112195 | spondyloperipheral dysplasia | |
| DOID:0112281 | spondyloepiphyseal dysplasia Stanescu type | |
| DOID:10159 | osteonecrosis |
