collagen type VII alpha 1 chain

Summary
Gene Symbol
  • COL7A1
Organism
Homo sapiens (human)
NCBI Gene
1294
PubChem
1294
Alliance of Genome Resources
Annotation
Keyword
  • Alternative splicing
  • Basement membrane
  • Cell adhesion
  • Collagen
  • Direct protein sequencing
  • Disease variant
  • Disulfide bond
  • Epidermolysis bullosa
  • Glycoprotein
  • Hydroxylation
  • Reference proteome
  • Repeat
  • Serine protease inhibitor
  • Signal
Proteins
Displaying all 2 entries
UniProt Protein Name
Q59F16
Q02388
  • Long-chain collagen
Gene Ontology (GO)
GO Hierarchy
Disease
Disease Ontology
Displaying all 6 entries
DO ID Disease Name Source
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 8, 2025