fibrillin 1
| UniProt | Protein Name |
|---|---|
| P35555 |
|
| GO Term | Evidence Code | PMID |
|---|---|---|
| skeletal system development | ||
| metanephros development | ||
| glucose metabolic process | ||
| signal transduction | ||
| heart development |
| GO Term | Evidence Code | PMID |
|---|---|---|
| microfibril | ||
| extracellular region | ||
| extracellular region | ||
| extracellular region | ||
| basement membrane |
| GO Term | Evidence Code | PMID |
|---|---|---|
| integrin binding | ||
| hormone activity | ||
| hormone activity | ||
| extracellular matrix structural constituent | ||
| extracellular matrix structural constituent |
| Gene Ontology |
|---|
| ATP binding |
| kinase activity |
| nucleotide binding |
| phosphorylation |
| InterPro |
|---|
| Protein kinase domain |
| Protein kinase-like domain superfamily |
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0050475 | Weill-Marchesani syndrome | |
| DOID:0060218 | CREST syndrome | |
| DOID:0060249 | scoliosis | |
| DOID:0111150 | autosomal dominant isolated ectopia lentis 1 | |
| DOID:0111243 | acromicric dysplasia | |
| DOID:0111561 | stiff skin syndrome | |
| DOID:0111726 | geleophysic dysplasia 2 | |
| DOID:14323 | Marfan syndrome | |
| DOID:3492 | mixed connective tissue disease | |
| DOID:3627 | aortic aneurysm |
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 2200 | Xenbase:XB-GENE-954190 | ||
| 2201 | WB:WBGene00022816 | ||
| 14118 | Xenbase:XB-GENE-954190 | MOUSE33303 | |
| 14119 | WB:WBGene00022816 | ||
| 83727 | RATNO27489 | ||
| 84467 | WB:WBGene00022816 | ||
| 176076 | WB:WBGene00022816 | ||
| 281154 | BOVIN01390 | ||
| 414836 | PIGXX14379 | ||
| 453411 | PANTR10267 |
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Supported by JST NBDC Grant Number JPMJND2204
Partly supported by NIH Common Fund Grant #1U01GM125267-01
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Last updated: August 4, 2025