COL17A1 report

I. Expression across cell types

II. Expression across tissues

sc-RNAseq data

Insufficient scRNA-seq data for expression of COL17A1 at tissue level.

III. Associated gene sets

GO_0031581Biological processhemidesmosome assembly
GO_0030198Biological processextracellular matrix organization
GO_0008544Biological processepidermis development
GO_0007160Biological processcell-matrix adhesion
GO_0005911Cellular componentcell-cell junction
GO_0030056Cellular componenthemidesmosome
GO_0005604Cellular componentbasement membrane
GO_0005615Cellular componentextracellular space
GO_0005788Cellular componentendoplasmic reticulum lumen
GO_0005581Cellular componentcollagen trimer
GO_0005576Cellular componentextracellular region
GO_0062023Cellular componentcollagen-containing extracellular matrix
GO_0005886Cellular componentplasma membrane
GO_0008201Molecular functionheparin binding
GO_0030020Molecular functionextracellular matrix structural constituent conferring tensile strength
GO_0005515Molecular functionprotein binding

IV. Literature review

[source]
Gene nameCOL17A1
Protein nameCollagen, type XVII, alpha 1, isoform CRA_b (Type XVII collagen alpha-1)
Collagen alpha-1(XVII) chain (180 kDa bullous pemphigoid antigen 2) (Bullous pemphigoid antigen 2) [Cleaved into: 120 kDa linear IgA disease antigen (120 kDa linear IgA dermatosis antigen) (Linear IgA disease antigen 1) (LAD-1); 97 kDa linear IgA disease antigen (97 kDa linear IgA bullous dermatosis antigen) (97 kDa LAD antigen) (97-LAD) (Linear IgA bullous disease antigen of 97 kDa) (LABD97)]
Collagen type XVII alpha 1 chain
SynonymshCG_24131
BPAG2
BP180
DescriptionFUNCTION: May play a role in the integrity of hemidesmosome and the attachment of basal keratinocytes to the underlying basement membrane.; FUNCTION: 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.

AccessionsD3DRA2
ENST00000369733.8 [Q9UMD9-2]
ENST00000488320.1
A2A2Y8
Q9UMD9
ENST00000648076.2 [Q9UMD9-1]
ENST00000393211.3
A0A3B3ITP5
H0Y420
A0A3B3IUC2
A0A3B3ISI7
ENST00000650263.1
ENST00000647647.1
ENST00000483876.1
A0A3B3ITM2
ENST00000433822.1