InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: COL17A1

Summary

InnateDB Gene

IDBG-88733.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

COL17A1

Gene Name

collagen, type XVII, alpha 1

Synonyms

BA16H23.2; BP180; BPA-2; BPAG2; LAD-1

Species

Homo sapiens

Ensembl Gene

ENSG00000065618

Encoded Proteins

IDBP-88735

collagen, type XVII, alpha 1

IDBP-88737

collagen, type XVII, alpha 1

IDBP-244063

collagen, type XVII, alpha 1

IDBP-385127

collagen, type XVII, alpha 1

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

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]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 10:104031286-104086002

Strand

Reverse strand

Band

q25.1

Transcripts

ENST00000353479	ENSP00000340937
ENST00000369733	ENSP00000358748
ENST00000393211	ENSP00000376905
ENST00000433822	ENSP00000388832
ENST00000480127
ENST00000488320
ENST00000483876

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 13 experimentally validated interaction(s) in this database.

Experimentally validated
Total	13 [view]
Protein-Protein	12 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding

Biological Process

GO:0007160	cell-matrix adhesion
GO:0008544	epidermis development
GO:0022617	extracellular matrix disassembly
GO:0030198	extracellular matrix organization
GO:0030574	collagen catabolic process
GO:0031581	hemidesmosome assembly
GO:0034329	cell junction assembly

Cellular Component

GO:0005576	extracellular region
GO:0005581	collagen trimer
GO:0005604	basement membrane
GO:0005788	endoplasmic reticulum lumen
GO:0005886	plasma membrane
GO:0005887	integral component of plasma membrane
GO:0005911	cell-cell junction
GO:0030056	hemidesmosome