collagen type VI alpha 1 chain

Summary
Gene Symbol
  • COL6A1
Organism
Homo sapiens (human)
NCBI Gene
1291
PubChem
1291
Alliance of Genome Resources
Annotation
Keyword
  • Cell adhesion
  • Collagen
  • Congenital muscular dystrophy
  • Direct protein sequencing
  • Disease variant
  • Extracellular matrix
  • Glycoprotein
  • Hydroxylation
  • Reference proteome
  • Repeat
  • Signal
Proteins
Displaying all 2 entries
UniProt Protein Name
A0A384P5H7
P12109
Gene Ontology (GO)
GO Hierarchy
GO Hierarchy
OrthoDB (Group)
Group level
Eukaryota
Group Name
Collagen alpha-1(VI) chain
Functional Category
  • G: Carbohydrate transport and metabolism
  • L: Replication, recombination and repair
  • T: Signal transduction mechanisms
Disease
Disease Ontology
Displaying all 4 entries
DO ID Disease Name Source
DOID:0050557 congenital muscular dystrophy
DOID:0050558 Ullrich congenital muscular dystrophy
DOID:0050663 Bethlem myopathy
DOID:9884 muscular dystrophy