COL17A1 May play a role in the integrity of hemidesmosome and the attachment of basal keratinocytes to the underlying basement membrane. The 120 kDa linear IgA disease antigen is an anchoring filament component involved in dermal-epidermal cohesion. Is the target of linear IgA bullous dermatosis autoantibodies. Detected in skin (PubMed:8618013). In the cornea, it is detected in the epithelial basement membrane, the epithelial cells, and at a lower level in stromal cells (at protein level) (PubMed:25676728). Stratified squamous epithelia. Found in hemidesmosomes. Expressed in cornea, oral mucosa, esophagus, intestine, kidney collecting ducts, ureter, bladder, urethra and thymus but is absent in lung, blood vessels, skeletal muscle and nerves. 2 alternatively spliced human isoforms have been reported. Note: This description may include information from UniProtKB.
Protein type: Extracellular matrix; Membrane protein, integral; Motility/polarity/chemotaxis
Chromosomal Location of Human Ortholog: 10q25.1
Cellular Component:  basement membrane; cell-cell junction; collagen trimer; endoplasmic reticulum lumen; extracellular region; hemidesmosome; integral component of plasma membrane; plasma membrane
Molecular Function:  extracellular matrix structural constituent conferring tensile strength; protein binding
Biological Process:  cell-matrix adhesion; epidermis development; hemidesmosome assembly; regulation of immune response
Disease: Epidermolysis Bullosa, Junctional, Non-herlitz Type; Epithelial Recurrent Erosion Dystrophy
Reference #:  Q9UMD9 (UniProtKB)
Alt. Names/Synonyms: 120 kDa linear IgA dermatosis antigen; 120 kDa linear IgA disease antigen; 180 kDa bullous pemphigoid antigen 2; 97 kDa LAD antigen; 97 kDa linear IgA bullous dermatosis antigen; 97 kDa linear IgA disease antigen; 97-LAD; alpha 1 type XVII collagen; BA16H23.2; bA16H23.2 (collagen, type XVII, alpha 1 (BP180)); BP180; BPAG2; Bullous pemphigoid antigen 2; bullous pemphigoid antigen 2 (180kD); COHA1; COL17A1; Collagen alpha-1(XVII) chain; collagen XVII, alpha-1 polypeptide; collagen, type XVII, alpha 1; FLJ60881; KIAA0204; LABD97; LAD-1; Linear IgA bullous disease antigen of 97 kDa; Linear IgA disease antigen 1
Gene Symbols: COL17A1
Molecular weight: 150,419 Da
Basal Isoelectric point: 8.89  Predict pI for various phosphorylation states
Select Structure to View Below


Protein Structure Not Found.

Cross-references to other databases:  STRING  |  cBioPortal  |  Wikipedia  |  Reactome  |  neXtProt  |  Protein Atlas  |  BioGPS  |  Pfam  |  Phospho.ELM  |  NetworKIN  |  GeneCards  |  UniProtKB  |  Entrez-Gene  |  GenPept  |  Ensembl Gene