Collagen XVII Recombinant Rabbit Monoclonal Antibody [SR46-05] (ET1602-14)

UNIPROT #

Q9UMD9

PROTEIN NAME

Collagen XVII

SYNONYMS

180 kDa bullous pemphigoid antigen 2 antibody;Alpha 1 type XVII collagen antibody;BA16H23.2 antibody;BP 180 antibody;BP180 antibody;BPA 2 antibody;BPAG 2 antibody;BPAG2 antibody;Bullous pemphigoid antigen 2 antibody;COL17A1 antibody;Collagen 17 antibody;Collagen alpha 1 XVII chain antibody;Collagen alpha 1(XVII) chain antibody;Collagen alpha1 XVII chain antibody;Collagen type XVII alpha 1 antibody;Collagen XVII alpha 1 polypeptide antibody;CollagenXVII antibody;Epidermolysis bullosa junctional localisata variant antibody;FLJ60881 antibody;KIAA0204 antibody;LAD 1 antibody;LAD1 antibody

TISSUE SPECIFICITY

Detected in skin. 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). 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.

POST-TRANSLATIONAL MODIFICATION

The intracellular/endo domain is disulfide-linked.; Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains.; The ectodomain is shedded from the surface of keratinocytes resulting in a 120-kDa soluble form, also named as 120 kDa linear IgA disease antigen. The shedding is mediated by membrane-bound metalloproteases. This cleavage is inhibited by phosphorylation at Ser-544.

SUBCELLULAR LOCATION

Cell junction, Membrane, Secreted

FUNCTION

Collagen XVII, previously called BP180, is a transmembrane protein which plays a critical role in maintaining the linkage between the intracellular and the extracellular structural elements involved in epidermal adhesion. COL17A1 is the official name of the gene. It encodes the alpha chain of type XVII collagen. Collagen XVII is a transmembrane protein, like collagen XIII, XXIII and XXV. Collagen XVII is a structural component of hemidesmosomes, multiprotein complexes at the dermal-epidermal basement membrane zone that mediate adhesion of keratinocytes to the underlying membrane. It also appears to be a key protein in maintaining the integrity of the corneal epithelium.[5] Mutations in this gene are associated with both generalized atrophic benign and junctional epidermolysis bullosa,[6] as well as recurrent corneal erosions, and expression of this gene is abnormal in various cancers. Two homotrimeric forms of type XVII collagen exist. The full length form is the transmembrane protein. A soluble form, referred to as either ectodomain or LAD-1, is generated by proteolytic processing of the full length form.