Collagen, type VII, alpha 1

COL7A1
Identifiers
Aliases	COL7A1, EBD1, EBDCT, EBR1, NDNC8, collagen type VII alpha 1, collagen type VII alpha 1 chain
External IDs	OMIM: 120120; MGI: 88462; HomoloGene: 73; GeneCards: COL7A1; OMA:COL7A1 - orthologs
Gene location (Human)
Chr.	Chromosome 3 (human)
End	48,595,329 bp
Gene location (Mouse)
Chr.	Chromosome 9 (mouse)
End	108,813,943 bp
RNA expression pattern
	Top expressed in
	stromal cell of endometrium; ; skin of abdomen; ; skin of leg; ; olfactory zone of nasal mucosa; ; right hemisphere of cerebellum; ; ectocervix; ; canal of the cervix; ; vagina; ; skin of arm; ; right testis;
	Top expressed in
	lip; ; corneal stroma; ; molar; ; lactiferous gland; ; neural layer of retina; ; muscle of thigh; ; lacrimal gland; ; conjunctival fornix; ; parotid gland; ; skin of back;
	More reference expression data
	; ;
	More reference expression data
Gene ontology
Molecular function	peptidase inhibitor activity; protein binding; serine-type endopeptidase inhibitor activity; identical protein binding; extracellular matrix structural constituent conferring tensile strength;
Cellular component	collagen; endoplasmic reticulum lumen; collagen type VII trimer; extracellular matrix; extracellular region; basement membrane; COPII-coated ER to Golgi transport vesicle; endoplasmic reticulum-Golgi intermediate compartment membrane; Golgi membrane; extracellular space; collagen-containing extracellular matrix;
Biological process	negative regulation of peptidase activity; endodermal cell differentiation; extracellular matrix organization; endoplasmic reticulum to Golgi vesicle-mediated transport; COPII vesicle coating; cell adhesion; epidermis development; collagen catabolic process; negative regulation of endopeptidase activity; growth plate cartilage chondrocyte morphogenesis;
	Sources:Amigo / QuickGO
Orthologs
	1294
	12836
	ENSG00000114270
	ENSMUSG00000025650
	Q02388
	Q63870
	NM_000094
	NM_007738
	NP_000085
	NP_031764
	Wikidata
View/Edit Human	View/Edit Mouse

Collagen alpha-1(VII) chain is a protein that in humans is encoded by the COL7A1 gene. It is composed of a triple helical, collagenous domain flanked by two non-collagenous domains, and functions as an anchoring fibril between the dermal-epidermal junction in the basement membrane. Mutations in COL7A1 cause all types of dystrophic epidermolysis bullosa, and the exact mutations vary based on the specific type or subtype. It has been shown that interactions between the NC-1 domain of collagen VII and several other proteins, including laminin-5 and collagen IV, contribute greatly to the overall stability of the basement membrane.