InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: COL17A1

Summary

InnateDB Protein

IDBP-88737.7

Last Modified

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

Gene Symbol

COL17A1

Protein Name

collagen, type XVII, alpha 1

Synonyms

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

Species

Homo sapiens

Ensembl Protein

ENSP00000358748

InnateDB Gene

IDBG-88733 (COL17A1)

Protein Structure

UniProt Annotation

Function

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.

Subcellular Localization

Cell junction, hemidesmosome. Membrane; Single-pass type II membrane protein. Note=Localized along the plasma membrane of the hemidesmosome.120 kDa linear IgA disease antigen: Secreted, extracellular space, extracellular matrix, basement membrane. Note=Exclusively localized to anchoring filaments. Localized to the epidermal side of split skin.97 kDa linear IgA disease antigen: Secreted, extracellular space, extracellular matrix, basement membrane. Note=Localized in the lamina lucida beneath the hemidesmosomes.

Disease Associations

Generalized atrophic benign epidermolysis bullosa (GABEB) [MIM:226650]: A non-lethal, adult form of junctional epidermolysis bullosa characterized by life-long blistering of the skin, associated with hair and tooth abnormalities. {ECO:0000269PubMed:10652291, ECO:0000269PubMed:10951237, ECO:0000269PubMed:11912005, ECO:0000269PubMed:8669466, ECO:0000269PubMed:9199555}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

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. {ECO:0000269PubMed:1748679, ECO:0000269PubMed:8618013}.

Comments

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