COL7A1

This gene encodes the alpha chain of type VII collagen. The type VII collagen fibril, composed of three identical alpha collagen chains, is restricted to the basement zone beneath stratified squamous epithelia. It functions as an anchoring fibril between the external epithelia and the underlying stroma. Mutations in this gene are associated with all forms of dystrophic epidermolysis bullosa. In the absence of mutations, however, an acquired form of this disease can result from an autoimmune response made to type VII collagen. [provided by RefSeq, Jul 2008]

Description

Collagen type VII alpha 1 chain

Tissue specificity

Tissue enhanced (skin)

Subcell location

Endoplasmic reticulum, Vesicles

Predicted location

Intracellular, Secreted to extracellular matrix

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins
Predicted secreted proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

3 (48564073 - 48595329)

Ensembl ID

ENSG00000114270  (ver. 103.38)

Orthologs

-

UniProt

Q02388

neXtProt

NX_Q02388

Human splice variants

Protein structure