COL17A1
Gene Information
- Official Symbol: COL17A1
- Official Name: collagen type XVII alpha 1 chain
- Aliases and Previous Symbols: N/A
- Entrez ID: 1308
- UniProt: Q9UMD9
- Interactions: BioGRID
- PubMed articles: Open PubMed
- OMIM: Open OMIM
Function Summary
- Entrez Summary: 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].
- UniProt Summary: May play a role in the integrity of hemidesmosome and the attachment of basal keratinocytes to the underlying basement membrane.
CRISPR Data
Essentiality in NALM6
- Essentiality Rank: 7963
- Expression level (log2 read counts): -2.35
COL17A1 Expression in NALM6 Cells: -2.35
