collagen type IX alpha 1 chain

Summary
Gene Symbol
  • COL9A1
Organism
Homo sapiens (human)
NCBI Gene
1297
PubChem
1297
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Alternative splicing
  • Collagen
  • Deafness
  • Direct protein sequencing
  • Disease variant
  • Disulfide bond
  • Extracellular matrix
  • Glycoprotein
  • Hydroxylation
  • Metal-binding
  • Reference proteome
  • Repeat
  • Signal
  • Stickler syndrome
  • Zinc
Proteins
Displaying 1 entry
UniProt Protein Name
P20849
Gene Ontology (GO)
OrthoDB (Group)
Group level
Eukaryota
Group Name
collagen
Functional Category
  • E: Amino acid transport and metabolism
  • O: Posttranslational modification, protein turnover, chaperones
  • T: Signal transduction mechanisms
Disease
Disease Ontology
Displaying all 4 entries
DO ID Disease Name Source
DOID:0070301 multiple epiphyseal dysplasia 6
DOID:0080046 Stickler syndrome
DOID:2256 osteochondrodysplasia
DOID:8398 osteoarthritis

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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