COL7A1 (Collagen Type VII Alpha 1 Chain) in Human (Homo sapiens) - bmBASE - A resource for basement membrane research

IPR003961:Fibronectin type III domain, IPR002035:Von Willebrand factor, type A domain, IPR002223:Pancreatic trypsin inhibitor Kunitz domain

This list has been manually curated and may not be the most up to date. Further updates may be available on InterPro .

Link to hereOrthology

Orthologs by Species

Zebrafish (Danio rerio) — 1 ortholog(s) of COL7A1

Mouse (Mus musculus) — 1 ortholog(s) of COL7A1

Link to hereProtein Localisation

Localisation Images (0)

Localisation Evidence (4)

Genetic linkage of type VII collagen (COL7A1) to dominant dystrophic epidermolysis bullosa in families with abnormal anchoring fibrils PubMed

Found in: Human (Homo sapiens)

Reagents: monoclonal anti-type VII collagen antibody L3D
Tissue-specific expression and long-term deposition of human collagen VII in the skin of transgenic mice: implications for gene therapy PubMed

Found in: Human (Homo sapiens)

Reagents: rabbit pAb to human collagen VII that did not cross-react with mouse
Autologous transplantation of oral mucosal epithelial cell sheets cultured on an amniotic membrane substrate for intraoral mucosal defects PubMed

Found in: Human (Homo sapiens)

Reagents: Mouse monoclonal collagen VII (Chemicon International)
Compositional differences between infant and adult human corneal basement membranes. PubMed

Found in: Human (Homo sapiens)

Reagents: Mouse mAb 4D2 collagen VII

Link to hereOther Information

Proteomics

BM Substrates (0)

This list has been manually curated and may not be the most up to date. Further updates may be available on BRENDA.

BM Ligands (33)

Gene
COL2A1
COL4A1
COL4A2
COL4A3
COL4A4
COL4A5
COL4A6
COL5A1
COL6A1
COL6A2
COL6A3
COL8A1
COL8A2
COL9A1
COL9A2
COL9A3
COL15A1
COL17A1
COL18A1
COL28A1
LAMA3
LAMB3
LAMC2
P3H1
P3H2
THBS1
TLL1
COL13A1
ITGA2
ITGAV
ITGB1
ITGB3
SDC1

This list has been manually curated and may not be the most up to date. Further updates may be available on STRING .

Associated Diseases (7)

Epidermolysis Bullosa Dystrophica, Autosomal Recessive; OMIM

Epidermolysis Bullosa With Congenital Localized Absence Of Skin Anddeformity Of Nails OMIM

Epidermolysis Bullosa Dystrophica, Autosomal Dominant OMIM

Epidermolysis bullosa pruriginosa OMIM

Epidermolysis bullosa, pretibial OMIM

Nail Disorder, Nonsyndromic Congenital, 8 OMIM

Transient Bullous Dermolysis Of The Newborn OMIM

This list has been manually curated and may not be the most up to date. Further updates may be available on OMIM and HPO .

Link to hereSee also

External References

Entrez/1294 UniProtKB/Q02388

If an 'External Reference' link is broken, please contact the bmbase team directly at - bmbase@manchester.ac.uk.