COL17A1

This gene encodes the alpha chain of type XVII collagen. Unlike most collagens, collagen XVII is a transmembrane protein. 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. Mutations in this gene are associated with both generalized atrophic benign and junctional epidermolysis bullosa. 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. [provided by RefSeq, Jul 2008]

Description

Collagen type XVII alpha 1 chain

Tissue specificity

Tissue enriched (skin)

Subcell location

Golgi apparatus, Plasma membrane

Predicted location

Intracellular, Membrane, Secreted to extracellular matrix

Protein family

Cancer-related genes
Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Plasma proteins
Predicted intracellular proteins
Predicted membrane proteins
Predicted secreted proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

10 (104031286 - 104085880)

Ensembl ID

ENSG00000065618  (ver. 103.38)

Orthologs

Mouse Col17a1: ENSMUSG00000025064

UniProt

Q9UMD9

neXtProt

NX_Q9UMD9

Human splice variants
Mouse splice variants

Protein structure