collagen, type VII, alpha 1

Summary
Gene Symbol
  • Col7a1
Organism
Mus musculus (house mouse)
NCBI Gene
12836
PubChem
12836
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Basement membrane
  • Cell adhesion
  • Collagen
  • Disulfide bond
  • Glycoprotein
  • Hydroxylation
  • Reference proteome
  • Repeat
  • Serine protease inhibitor
  • Signal
Proteins
Displaying 1 entry
UniProt Protein Name
Q63870
  • Long-chain collagen
Gene Ontology (GO)
GO Hierarchy
OrthoDB (Group)
Group level
Eukaryota
Group Name
collagen alpha-1(VII) chain
Functional Category
  • E: Amino acid transport and metabolism
  • O: Posttranslational modification, protein turnover, chaperones
  • T: Signal transduction mechanisms
Disease
Disease Ontology
Displaying all 7 entries
DO ID Disease Name Source
DOID:0060642 recessive dystrophic epidermolysis bullosa
DOID:0080086 nonsyndromic congenital nail disorder 8
DOID:0080224 autosomal dominant dystrophic epidermolysis bullosa
DOID:0080988 pretibial dystrophic epidermolysis bullosa
DOID:0111345 transient bullous dermolysis of the newborn
DOID:0111347 epidermolysis bullosa with congenital localized absence of skin and deformity of nails
DOID:4959 epidermolysis bullosa dystrophica

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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