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fibrillin 1
Summary
- Gene Symbol
-
- FBN1
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- 3D-structure
- Aortic aneurysm
- Calcium
- Direct protein sequencing
- Disease variant
- Disulfide bond
- Dwarfism
- EGF-like domain
- Extracellular matrix
- Glycoprotein
- Heparin-binding
- Hormone
- Phosphoprotein
- Proteomics identification
- Reference proteome
- Repeat
- Signal
- Proteins
| UniProt | Protein Name |
|---|---|
| P35555 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| skeletal system development | ||
| metanephros development | ||
| glucose metabolic process | ||
| signal transduction | ||
| heart development |
GO Hierarchy
biological process
metabolic process [inference]
response to stimulus [inference]
biological regulation [inference]
regulation of biological process [inference]
regulation of immune system process [inference]
regulation of metabolic process [inference]
positive regulation of metabolic process [inference]
regulation of cellular metabolic process [inference]
regulation of nitrogen compound metabolic process [inference]
regulation of macromolecule metabolic process [inference]
regulation of signaling [inference]
positive regulation of biological process [inference]
negative regulation of biological process [inference]
regulation of response to stimulus [inference]
regulation of developmental process [inference]
regulation of cellular process [inference]
regulation of cell communication [inference]
regulation of cellular metabolic process [inference]
regulation of cell differentiation [inference]
regulation of multicellular organismal process [inference]
| GO Term | Evidence Code | PMID |
|---|---|---|
| extracellular space | ||
| extracellular space | ||
| endoplasmic reticulum lumen | ||
| extracellular matrix | ||
| extracellular matrix |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| integrin binding | ||
| hormone activity | ||
| hormone activity | ||
| extracellular matrix structural constituent | ||
| extracellular matrix structural constituent |
GO Hierarchy
OrthoDB (Group)
- Group level
- Eukaryota
- Group Name
- Fibrillin
- Functional Category
-
- G: Carbohydrate transport and metabolism
- T: Signal transduction mechanisms
| Gene Ontology |
|---|
| calcium ion binding |
Disease
- Disease Ontology
| 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 |
