COL7A1

Ab — Antibody evidence. See Protein Localisation. Int — Basement membrane interaction. See BM Ligands.

Entry ID: BMB30565

Protein Localisation

Other Information

Gene

Species	Human (Homo sapiens)
Gene Symbol	COL7A1
Gene Size (Bases)	31257
Entrez	1294

Protein

Protein Name	Collagen Type VII Alpha 1 Chain
Classification	Collagen
Mol. Weight (kD)	295
UniProtKB	Q02388
Protein Domains	IPR003961, IPR002035, IPR002223 May not be up to date — see InterPro .

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

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 (34)

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
COL6A6

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

Interaction Network Images

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 hereOrthology

Orthologs by Species

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

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

Link to hereSee also

External References

Entrez/1294 UniProtKB/Q02388 Publication: A basement membrane discovery pipeline/sciadv.abn2265

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