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Protein: CO7A1_HUMAN

Collagen alpha-1(VII) chain

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. more...

SUBUNIT: Homotrimer. Interacts with MIA3/TANGO1; facilitating its loading into transport carriers and subsequent secretion.

SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix, basement membrane.

ALTERNATIVE PRODUCTS: Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q02388-1; Sequence=Displayed; Name=2; IsoId=Q02388-2; Sequence=VSP_024026;

PTM: Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains.

DISEASE: Note=Epidermolysis bullosa acquisita (EBA) is an autoimmune acquired blistering skin disease resulting from autoantibodies to type VII collagen.

DISEASE: Defects in COL7A1 are the cause of epidermolysis bullosa dystrophica autosomal dominant (DDEB) [MIM:131750]. DDEB defines 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.

DISEASE: Defects in COL7A1 are the cause of epidermolysis bullosa dystrophica autosomal recessive (RDEB) [MIM:226600]. RDEB defines 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.

DISEASE: Defects in COL7A1 are the cause of epidermolysis bullosa dystrophica Pasini type (P-DEB) [MIM:131750]; also known as albopapuloid dominant dystrophic epidermolysis bullosa. P-DEB is 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.

DISEASE: Defects in COL7A1 are the cause of epidermolysis bullosa dystrophica Hallopeau-Siemens type (HS-DEB) [MIM:226600]. HS-DEB is the most severe recessive form and 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.

DISEASE: Defects in COL7A1 are the cause of 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.

DISEASE: Defects in COL7A1 are the cause of epidermolysis bullosa dystrophica pretibial type (PR-DEB) [MIM:131850]. PR-DEB is 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.

DISEASE: Defects in COL7A1 are the cause of epidermolysis bullosa dystrophica Bart type (B-DEB) [MIM:132000]. B-DEB is an autosomal dominant form of dystrophic epidermolysis bullosa characterized by congenital localized absence of skin, skin fragility and deformity of nails.

DISEASE: Defects in COL7A1 are the cause of epidermolysis bullosa pruriginosa (EBP) [MIM:604129]. EBP is a distinct clinical subtype of DEB. 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.

DISEASE: Defects in COL7A1 are the cause of isolated toenail dystrophy without skin fragility (INDWSF) [MIM:607523].

DISEASE: Defects in COL7A1 are the cause of epidermolysis bullosa dystrophica with subcorneal cleavage (EBDSC) [MIM:607600]; also known as epidermolysis bullosa simplex superficialis (EBSS). EBDSC is a new variant of epidermolysis bullosa simplex (EBS), characterized by the development of skin cleavage just beneath the level of stratum corneum. It appears to be transmitted as an autosomal dominant trait and differs from other autosomal dominant forms of EBS by the common findings of milia and atrophic scarring, as well as involvement of oral and/or ocular surfaces. It is further differentiated by the presence of blisters and the absence of spontaneous continual exfoliation or peeling.

SIMILARITY: Contains 1 BPTI/Kunitz inhibitor domain.

SIMILARITY: Contains 9 fibronectin type-III domains.

SIMILARITY: Contains 2 VWFA domains.

SEQUENCE CAUTION: Sequence=BAA02853.1; Type=Frameshift; Positions=275, 282, 476, 494, 523, 541, 543; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/COL7A1";

COPYRIGHT: Protein annotation is derived from the UniProt Consortium (http://www.uniprot.org/). Distributed under the Creative Commons Attribution-NoDerivs License.

 

Organism:

  • Homo sapiens

Gene Symbol:

  • COL7A1

Synonyms:

  • Long-chain collagen
  • LC collagen

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