InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: COL7A1

Summary

InnateDB Gene

IDBG-33085.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

COL7A1

Gene Name

collagen, type VII, alpha 1

Synonyms

EBD1; EBDCT; EBR1

Species

Homo sapiens

Ensembl Gene

ENSG00000114270

Encoded Proteins

IDBP-33087

collagen, type VII, alpha 1

IDBP-376221

collagen, type VII, alpha 1

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

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]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 3:48564073-48595267

Strand

Reverse strand

Band

p21.31

Transcripts

ENST00000328333	ENSP00000332371
ENST00000422991	ENSP00000391608
ENST00000470076
ENST00000465238
ENST00000487017
ENST00000466591
ENST00000474432
ENST00000459756
ENST00000467985
ENST00000462475

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 9 experimentally validated interaction(s) in this database.

Experimentally validated
Total	9 [view]
Protein-Protein	9 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004867	serine-type endopeptidase inhibitor activity
GO:0005515	protein binding
GO:0042802	identical protein binding

Biological Process

GO:0007155	cell adhesion
GO:0008544	epidermis development
GO:0010951	negative regulation of endopeptidase activity
GO:0022617	extracellular matrix disassembly
GO:0030198	extracellular matrix organization
GO:0030574	collagen catabolic process

Cellular Component

GO:0005576	extracellular region
GO:0005590	collagen type VII
GO:0005604	basement membrane
GO:0005615	extracellular space
GO:0005788	endoplasmic reticulum lumen
GO:0031012	extracellular matrix