InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: COL7A1

Summary

InnateDB Protein

IDBP-33087.6

Last Modified

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

Gene Symbol

COL7A1

Protein Name

collagen, type VII, alpha 1

Synonyms

EBD1; EBDCT; EBR1;

Species

Homo sapiens

Ensembl Protein

ENSP00000332371

InnateDB Gene

IDBG-33085 (COL7A1)

Protein Structure

UniProt Annotation

Function

Stratified squamous epithelial basement membrane protein that forms anchoring fibrils which may contribute to epithelial basement membrane organization and adherence by interacting with extracellular matrix (ECM) proteins such as type IV collagen.

Subcellular Localization

Secreted, extracellular space, extracellular matrix, basement membrane.

Disease Associations

Note=Epidermolysis bullosa acquisita (EBA) is an autoimmune acquired blistering skin disease resulting from autoantibodies to type VII collagen.Epidermolysis bullosa dystrophica, autosomal dominant (DDEB) [MIM:131750]: A group of autosomal dominant blistering skin diseases characterized by tissue separation which occurs below the dermal-epidermal basement membrane at the level of the anchoring fibrils. Various clinical types with different severity are recognized, ranging from severe mutilating forms to mild forms with limited and localized scarring, and less frequent extracutaneous manifestations. {ECO:0000269PubMed:10084325, ECO:0000269PubMed:10232406, ECO:0000269PubMed:10232407, ECO:0000269PubMed:10232408, ECO:0000269PubMed:10836608, ECO:0000269PubMed:11142768, ECO:0000269PubMed:20598510, ECO:0000269PubMed:7861014, ECO:0000269PubMed:9215684, ECO:0000269PubMed:9668111, ECO:0000269PubMed:9740253, ECO:0000269PubMed:9856843}. Note=The disease is caused by mutations affecting the gene represented in this entry.Epidermolysis bullosa dystrophica, autosomal recessive (RDEB) [MIM:226600]: A group of autosomal recessive blistering skin diseases characterized by tissue separation which occurs below the dermal-epidermal basement membrane at the level of the anchoring fibrils. Various clinical types with different severity are recognized, ranging from severe mutilating forms to mild forms with limited and localized scarring, and less frequent extracutaneous manifestations. Mild forms include epidermolysis bullosa mitis and epidermolysis bullosa localisata. {ECO:0000269PubMed:10084325, ECO:0000269PubMed:10620140, ECO:0000269PubMed:11167698, ECO:0000269PubMed:20598510, ECO:0000269PubMed:8618018, ECO:0000269PubMed:8757758, ECO:0000269PubMed:9215684, ECO:0000269PubMed:9444387, ECO:0000269PubMed:9740253, ECO:0000269PubMed:9804332}. Note=The disease is caused by mutations affecting the gene represented in this entry.Epidermolysis bullosa dystrophica, Pasini type (P-DEB) [MIM:131750]: A severe, dominantly inherited form of dystrophic epidermolysis bullosa characterized by albopapuloid Pasini papule, dorsal extremity blistering, milia formation and red atrophic scarring after recurrent blisters. {ECO:0000269PubMed:10233777, ECO:0000269PubMed:8170945}. Note=The disease is caused by mutations affecting the gene represented in this entry.Epidermolysis bullosa dystrophica, Hallopeau-Siemens type (HS-DEB) [MIM:226600]: The most severe recessive form of dystrophic epidermolysis bullosa. It manifests with mutilating scarring, joint contractures, corneal erosions, esophagus structures, and propensity to formation of cutaneous squamous cell carcinomas leading to premature demise of the affected individuals. {ECO:0000269PubMed:10084325, ECO:0000269PubMed:8513326, ECO:0000269PubMed:8592061, ECO:0000269PubMed:9326325, ECO:0000269PubMed:9740253}. Note=The disease is caused by mutations affecting the gene represented in this entry.Transient bullous dermolysis of the newborn (TBDN) [MIM:131705]: TBDN is a neonatal form of dystrophic epidermolysis bullosa characterized by sub-epidermal blisters, reduced or abnormal anchoring fibrils at the dermo-epidermal junction, and electron-dense inclusions in keratinocytes. TBDN heals spontaneously or strongly improves within the first months and years of life. {ECO:0000269PubMed:9856844}. Note=The disease is caused by mutations affecting the gene represented in this entry.Epidermolysis bullosa dystrophica, pretibial type (PR- DEB) [MIM:131850]: A form of dystrophic epidermolysis bullosa characterized by pretibial blisters that develop into prurigo-like hyperkeratotic lesions. It predominantly affects the pretibial areas, sparing the knees and other parts of the skin. Other clinical features include nail dystrophy, albopapuloid skin lesions, and hypertrophic scars without pretibial predominance. The phenotype shows considerable interindividual variability. Inheritance is autosomal dominant. {ECO:0000269PubMed:8541842}. Note=The disease is caused by mutations affecting the gene represented in this entry.Epidermolysis bullosa dystrophica, Bart type (B-DEB) [MIM:132000]: An autosomal dominant form of dystrophic epidermolysis bullosa characterized by congenital localized absence of skin, skin fragility and deformity of nails. Note=The disease is caused by mutations affecting the gene represented in this entry.Epidermolysis bullosa pruriginosa (EBP) [MIM:604129]: A distinct clinical subtype of epidermolysis bullosa dystrophica. It is characterized by skin fragility, blistering, scar formation, intense pruritus and excoriated prurigo nodules. Onset is in early childhood, but in some cases is delayed until the second or third decade of life. Inheritance can be autosomal dominant or recessive. {ECO:0000269PubMed:10383749, ECO:0000269PubMed:11142768}. Note=The disease is caused by mutations affecting the gene represented in this entry.Nail disorder, non-syndromic congenital, 8 (NDNC8) [MIM:607523]: A nail disorder characterized by isolated toenail dystrophy. The nail changes are most severe in the great toes and consist of the nail plate being buried in the nail bed with a deformed and narrow free edge. {ECO:0000269PubMed:11843659}. Note=The disease is caused by mutations affecting the gene represented in this entry.Epidermolysis bullosa dystrophica, with subcorneal cleavage (EBDSC) [MIM:131750]: A bullous skin disorder with variable sized clefts just beneath the level of the stratum corneum. Clinical features include blisters, milia, atrophic scarring, nail dystrophy, and oral and conjunctival involvement, as seen in dystrophic epidermolysis bullosa. {ECO:0000269PubMed:11874498, ECO:0000269PubMed:2653224}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

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

Protein Structure and Domains

PDB ID

InterPro

IPR002035 von Willebrand factor, type A
IPR002223 Proteinase inhibitor I2, Kunitz metazoa
IPR003961 Fibronectin, type III
IPR008160 Collagen triple helix repeat

PFAM

PF00092
PF00014
PF00041
PF01108
PF01391

PRINTS

PR00759

PIRSF

SMART

SM00327
SM00131
SM00060

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt