Collagen VII

COL7A1
Identifiers
Aliases	COL7A1, EBD1, EBDCT, EBR1, NDNC8, collagen type VII alpha 1, collagen type VII alpha 1 chain
External IDs	MGI: 88462 HomoloGene: 73 GeneCards: COL7A1
Gene location (Human) Chr. Chromosome 3 (human) Band No data available Start 48,564,073 bp End 48,595,267 bp
Gene location (Mouse) Chr. Chromosome 9 (mouse) Band No data available Start 108,953,586 bp End 108,984,875 bp
RNA expression pattern More reference expression data
Gene ontology Molecular function • peptidase inhibitor activity • protein binding • serine-type endopeptidase inhibitor activity • identical protein binding Cellular component • collagen trimer • endoplasmic reticulum lumen • collagen type VII trimer • extracellular matrix • proteinaceous extracellular matrix • extracellular region • basement membrane • COPII-coated ER to Golgi transport vesicle • endoplasmic reticulum-Golgi intermediate compartment membrane • Golgi membrane • extracellular space Biological process • negative regulation of peptidase activity • endodermal cell differentiation • extracellular matrix organization • ER to Golgi vesicle-mediated transport • COPII vesicle coating • cell adhesion • epidermis development • collagen catabolic process • negative regulation of endopeptidase activity Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	1294	12836
Ensembl	ENSG00000114270	ENSMUSG00000025650
UniProt	Q02388	Q63870
RefSeq (mRNA)	NM_000094	NM_007738
RefSeq (protein)	NP_000085	NP_031764
Location (UCSC)	Chr 3: 48.56 – 48.6 Mb	Chr 3: 108.95 – 108.98 Mb
PubMed search

1294

12836

ENSG00000114270

ENSMUSG00000025650

Q02388

Q63870

NM_000094

NM_007738

NP_000085

NP_031764

Collagen alpha-1(VII) chain is a protein that in humans is encoded by the COL7A1 gene.

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 autoimmune response against type VII collagen can result in an acquired form of this disease called epidermolysis bullosa acquisita.

Type VII collagen is also found in the retina; its function in this organ is unknown.

...
Wikipedia