collagen type III alpha 1 chain

Summary
Gene Symbol
  • COL3A1
Organism
Homo sapiens (human)
NCBI Gene
1281
PubChem
1281
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Alternative splicing
  • Aortic aneurysm
  • Calcium
  • Collagen
  • Direct protein sequencing
  • Disease variant
  • Disulfide bond
  • Ehlers-Danlos syndrome
  • Extracellular matrix
  • Glycoprotein
  • Hydroxylation
  • Metal-binding
  • Reference proteome
  • Repeat
  • Signal
Proteins
Displaying 1 entry
UniProt Protein Name
P02461
Gene Ontology (GO)
GO Hierarchy
OrthoDB (Group)
Group level
Eukaryota
Group Name
collagen alpha
Functional Category
  • E: Amino acid transport and metabolism
  • I: Lipid transport and metabolism
  • T: Signal transduction mechanisms
Disease
Disease Ontology
Displaying entries 1 - 10 of 11 in total
DO ID Disease Name Source
DOID:0050827 rheumatic heart disease
DOID:0050851 glomerulosclerosis
DOID:13359 Ehlers-Danlos syndrome
DOID:13948 bladder neck obstruction
DOID:14756 vascular type Ehlers-Danlos syndrome
DOID:14757 Ehlers-Danlos syndrome hypermobility type
DOID:418 systemic scleroderma
DOID:5844 myocardial infarction
DOID:783 end stage renal disease
DOID:9352 type 2 diabetes mellitus

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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


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Last updated: December 9, 2024