fibrillin 1

Summary
Gene Symbol
  • FBN1
Organism
Homo sapiens (human)
NCBI Gene
2200
PubChem
2200
Alliance of Genome Resources
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
  • Reference proteome
  • Repeat
  • Signal
Proteins
Displaying 1 entry
UniProt Protein Name
P35555
Gene Ontology (GO)
GO Hierarchy
OrthoDB (Group)
Group level
Eukaryota
Group Name
Kinase
Functional Category
  • J: Translation, ribosomal structure and biogenesis
  • K: Transcription
  • T: Signal transduction mechanisms
Displaying all 4 entries
Gene Ontology
ATP binding
kinase activity
nucleotide binding
phosphorylation
Disease
Disease Ontology
Displaying entries 1 - 10 of 20 in total
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:10763 hypertension
DOID:114 heart disease
DOID:14323 Marfan syndrome

About Release Notes Help Feedback

Click here to visit the beta site.


International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


Logo License Policies Site Map

Contact: support@glycosmos.org

This work is licensed under Creative Commons Attribution 4.0 International


GlyCosmos Portal v4.1.0

Last updated: December 9, 2024