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collagen 7 alpha-1; long-chain [LC] collagen (COL7A1)
Function:
- stratified squamous epithelial basement membrane protein
- forms anchoring fibrils which may contribute to epithelial basement membrane organization & adherence by interacting with extracellular matrix (ECM) proteins
Structure:
- homotrimer
- contains 1 BPTI/Kunitz inhibitor domain
- contains 9 fibronectin F3 modules
- contains 2 VWFA domains
Compartment:
- secreted, extracellular space
- extracellular matrix, basement membrane
Alternative splicing: named isoforms=2
Pathology:
- defects in COL7A1 are the cause of
a) epidermolysis bullosa dystrophica
- Pasini type
- Hallopeau-Siemens type
- pretibial type
- Bart type
- transient bullous dermolysis of the newborn
- epidermolysis bullosa pruriginosa
b) epidermolysis bullosa simplex superficialis
c) isolated toenail dystrophy without skin fragility
Related
COL7A1 gene
General
collagen subunit
Properties
SIZE: entity length = 2944 aa
MW = 295 kD
MOTIF: signal sequence {1-16}
Nonhelical region (NC1) {17-1253}
MOTIF: VWFA domain {38-211}
fibronectin type III domain or F3 module {231-325}
fibronectin type III domain or F3 module {331-413}
N-glycosylation site {N337}
fibronectin type III domain or F3 module {414-503}
fibronectin type III domain or F3 module {507-593}
fibronectin type III domain or F3 module {598-683}
fibronectin type III domain or F3 module {685-771}
fibronectin type III domain or F3 module {775-862}
N-glycosylation site {N786}
fibronectin type III domain or F3 module {867-952}
fibronectin type III domain or F3 module {955-1046}
VWFA domain {1054-1229}
N-glycosylation site {N1109}
Cell attachment site {1170-1172}
Triple-helical region {1254-2784}
MOTIF: Interrupted collagenous region {1254-1477}
Cell attachment site {1334-1336}
Cell attachment site {2008-2010}
Cell attachment site {2553-2555}
cysteine residue {C2634}
MODIFICATION: cysteine residue {C-INTERCHAIN}
Nonhelical region (NC2) {2785-2944}
MOTIF: cysteine residue {C2802}
MODIFICATION: cysteine residue {C-INTERCHAIN}
cysteine residue {C2804}
MODIFICATION: cysteine residue {C-INTERCHAIN}
BPTI/Kunitz inhibitor {2872-2944}
cysteine residue {C2876}
MODIFICATION: cysteine residue {C2929}
cysteine residue {C2885}
MODIFICATION: cysteine residue {C2912}
peptide motif {2886-2887}
cysteine residue {C2904}
MODIFICATION: cysteine residue {C2925}
cysteine residue {C2912}
MODIFICATION: cysteine residue {C2885}
cysteine residue {C2925}
MODIFICATION: cysteine residue {C2904}
cysteine residue {C2929}
MODIFICATION: cysteine residue {C2876}
Database Correlations
OMIM correlations
UniProt Q02388
PFAM correlations
Entrez Gene 1294
Kegg hsa:1294
References
- UniProt :accession Q02388
- GeneReviews
https://www.genecards.org/cgi-bin/carddisp.pl?gene=COL7A1
Component-of
collagen type-7