TISIDB

Summary
Symbol	COL17A1
Name	collagen, type XVII, alpha 1
Aliases	BP180; BPAG2; BA16H23.2; BPA-2; ERED; 180 kDa bullous pemphigoid antigen 2; alpha 1 type XVII collagen; bA16 ......
Chromosomal Location	10q24.3
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	Basic function annotation. > Subcellular Location, Domain and Function > Gene Ontology > KEGG and Reactome Pathway

> Subcellular Location, Domain and Function [ TOP ]
Subcellular Location	Cell junction, hemidesmosome. Membrane; Single-pass type II membrane protein. Note=Localized along the plasma membrane of the hemidesmosome.; SUBCELLULAR LOCATION: 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.; SUBCELLULAR LOCATION: 97 kDa linear IgA disease antigen: Secreted, extracellular space, extracellular matrix, basement membrane. Note=Localized in the lamina lucida beneath the hemidesmosomes.
Domain	PF01391 Collagen triple helix repeat (20 copies)
Function	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.

> Gene Ontology [ TOP ]
Biological Process	GO:0007044 cell-substrate junction assembly GO:0007160 cell-matrix adhesion GO:0008544 epidermis development GO:0031581 hemidesmosome assembly GO:0031589 cell-substrate adhesion GO:0034329 cell junction assembly GO:0034330 cell junction organization
Molecular Function	-
Cellular Component	GO:0005578 proteinaceous extracellular matrix GO:0005581 collagen trimer GO:0005604 basement membrane GO:0005788 endoplasmic reticulum lumen GO:0030055 cell-substrate junction GO:0030056 hemidesmosome GO:0044420 extracellular matrix component

> KEGG and Reactome Pathway [ TOP ]
KEGG	hsa04974 Protein digestion and absorption
Reactome	R-HSA-446728: Cell junction organization R-HSA-1500931: Cell-Cell communication R-HSA-1650814: Collagen biosynthesis and modifying enzymes R-HSA-8948216: Collagen chain trimerization R-HSA-1442490: Collagen degradation R-HSA-1474290: Collagen formation R-HSA-1474228: Degradation of the extracellular matrix R-HSA-1474244: Extracellular matrix organization R-HSA-446107: Type I hemidesmosome assembly

> KEGG and Reactome Pathway

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KEGG

hsa04974 Protein digestion and absorption

Reactome

R-HSA-446728: Cell junction organization
R-HSA-1500931: Cell-Cell communication
R-HSA-1650814: Collagen biosynthesis and modifying enzymes
R-HSA-8948216: Collagen chain trimerization
R-HSA-1442490: Collagen degradation
R-HSA-1474290: Collagen formation
R-HSA-1474228: Degradation of the extracellular matrix
R-HSA-1474244: Extracellular matrix organization
R-HSA-446107: Type I hemidesmosome assembly

Summary
Symbol	COL17A1
Name	collagen, type XVII, alpha 1
Aliases	BP180; BPAG2; BA16H23.2; BPA-2; ERED; 180 kDa bullous pemphigoid antigen 2; alpha 1 type XVII collagen; bA16 ......
Chromosomal Location	10q24.3
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	Literatures that report relations between COL17A1 and anti-tumor immunity. The specific mechanism were also collected if the literature reports that a gene specifically promotes or inhibits the infiltration or function of T/NK cells.

> Text Mining

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Literatures describing the relation between COL17A1 and anti-tumor immunity in human cancer.

PMID	Cancer type	Relation to immunity	Evidence sentences
28783722	Melanoma	Promote immunity (T cell function)	Fifteen genes showed significant resistance to T-cell-mediated cytolysis with at least 1 sgRNA in these cells.; MART-1+ Mel624 cells with sgRNAs targeting each of the 9 candidate genes showed increased resistance against these T cells (Extended Data Fig. 6b, P < 0.05). The genes that we validated across different melanoma cell lines and different antigen–TCR combinations include cellular cytoskeleton genes, COL17A1 (collagen type XVII alpha 1) and TWF1 (twinfilin-1), a microRNA (hsa-mir-101-2) and a 60S ribosomal subunit (RPL23, Supplementary Discussion).

Summary
Symbol	COL17A1
Name	collagen, type XVII, alpha 1
Aliases	BP180; BPAG2; BA16H23.2; BPA-2; ERED; 180 kDa bullous pemphigoid antigen 2; alpha 1 type XVII collagen; bA16 ......
Chromosomal Location	10q24.3
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	High-throughput screening data (e.g. CRISPR-Cas9, shRNA and RNAi) for T cell-mediated killing. Genetic screen techniques can identify mechanisms of tumor cell resistance (e.g., PTPN2) and sensitivity (e.g., APLNR) to killing by cytotoxic T cells, the central effectors of anti-tumor immunity. After comprehensively searching, eight groups of screening data sets were collected in the current database. In this tab, users can check whether their selected genes cause resistance or increase sensitivity to T cell-mediated killing in various data sets.

> High-throughput Screening

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Statistical results of COL17A1 in screening data sets for detecting immune reponses.

PMID	Screening System	Cancer Type	Cell Line	Data Set	Statistical Results	Relation to immunity
29301958	CRISPR-Cas9	melanoma	B16F10	Pmel-1 T cell	NA/NS	NA/NS
29301958	CRISPR-Cas9	melanoma	B16F10	OT-1 T cell	NA/NS	NA/NS
28783722	CRISPR-Cas9	melanoma	Mel624	2CT-CRISPR	Second most enriched score: 1.04	Sensitive to T cell-mediated killing
28723893	CRISPR-Cas9	melanoma	B16	GVAX+Anti-PD1	NA/NS	NA/NS
28723893	CRISPR-Cas9	melanoma	B16	GVAX	NA/NS	NA/NS
25691366	RNAi	Breast cancer	MCF7	Luc-CTL assay	NA/NS	NA/NS
24476824	shRNA	melanoma	B16	Primary screen	NA/NS	NA/NS
24476824	shRNA	melanoma	B16	Secondary screen	NA/NS	NA/NS

Summary
Symbol	COL17A1
Name	collagen, type XVII, alpha 1
Aliases	BP180; BPAG2; BA16H23.2; BPA-2; ERED; 180 kDa bullous pemphigoid antigen 2; alpha 1 type XVII collagen; bA16 ......
Chromosomal Location	10q24.3
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	Transcriptomic and genomic profiling of pre-treated tumor biopsies from responders and non-responders to immunotherapy. These data were used to identify signatures and mechanisms of response to checkpoint blockade (e.g., anti-PDL1 and anti-PD1). One example is that mutations in the gene PBRM1 benefit clinical survival of patients with clear cell renal cell carcinoma. After comprehensively searching, we collected 5 and 6 of transcriptomic and genomic data sets, respectively. In this tab, users can check whether their selected genes have significant difference of expression or mutation between responders and non-responders in various data sets. > Expression difference between responders and non-responders > Mutation difference between responders and non-responders

> Expression difference between responders and non-responders

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Points in the above scatter plot represent the expression difference of COL17A1 in various data sets.

No	PMID	Cancer type	Group	Drug	# Res	# NRes	Log2 (Fold Change)	P value
1	26997480	Melanoma	all	Anti-PD-1 (pembrolizumab and nivolumab)	14	12	0.481	0.511
2	26997480	Melanoma	MAPKi	Anti-PD-1 (pembrolizumab and nivolumab)	6	5	0.078	0.946
3	26997480	Melanoma	non-MAPKi	Anti-PD-1 (pembrolizumab and nivolumab)	8	7	0.798	0.424
4	28552987	Urothelial cancer	all	Anti-PD-L1 (atezolizumab)	9	16	0.251	0.694
5	28552987	Urothelial cancer	smoking	Anti-PD-L1 (atezolizumab)	5	9	0.728	0.754
6	28552987	Urothelial cancer	non-smoking	Anti-PD-L1 (atezolizumab)	4	7	-0.358	0.896
7	29033130	Melanoma	all	Anti-PD-1 (nivolumab)	26	23	0.258	0.8
8	29033130	Melanoma	NIV3-PROG	Anti-PD-1 (nivolumab)	15	11	0.903	0.537
9	29033130	Melanoma	NIV3-NAIVE	Anti-PD-1 (nivolumab)	11	12	-0.509	0.74
10	29301960	Clear cell renal cell carcinoma (ccRCC)	all	Anti-PD-1 (nivolumab)	4	8	0.341	0.349
11	29301960	Clear cell renal cell carcinoma (ccRCC)	VEGFRi	Anti-PD-1 (nivolumab)	2	0	0	1
12	29301960	Clear cell renal cell carcinoma (ccRCC)	non-VEGFRi	Anti-PD-1 (nivolumab)	2	8	0.663	0.214
13	29443960	Urothelial cancer	all	Anti-PD-L1 (atezolizumab)	68	230	-0.908	0.0154

> Mutation difference between responders and non-responders

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Points in the above scatter plot represent the mutation difference of COL17A1 in various data sets.

No	PMID	Cancer type	Group	Drug	# Res	# NRes	% Mut/Res	% Mut/NRes	% Diff (R vs NR)	Pval
1	25765070	Non-small cell lung cancer (NSCLC)	all	Anti-PD-1 (pembrolizumab)	14	17	0	5.9	-5.9	1
2	25765070	Non-small cell lung cancer (NSCLC)	smoking	Anti-PD-1 (pembrolizumab)	10	3	0	33.3	-33.3	0.231
3	25765070	Non-small cell lung cancer (NSCLC)	non-smoking	Anti-PD-1 (pembrolizumab)	4	14	0	0	0	1
4	26359337	Melanoma	all	Anti-CTLA-4 (ipilimumab)	27	73	7.4	5.5	1.9	0.66
5	26359337	Melanoma	BRAFi	Anti-CTLA-4 (ipilimumab)	0	14	0	0	0	1
6	26359337	Melanoma	non-BRAFi	Anti-CTLA-4 (ipilimumab)	27	59	7.4	6.8	0.6	1
7	26997480	Melanoma	all	Anti-PD-1 (pembrolizumab and nivolumab)	21	17	4.8	5.9	-1.1	1
8	26997480	Melanoma	MAPKi	Anti-PD-1 (pembrolizumab and nivolumab)	8	6	0	0	0	1
9	26997480	Melanoma	non-MAPKi	Anti-PD-1 (pembrolizumab and nivolumab)	13	11	7.7	9.1	-1.4	1
10	28552987	Urothelial cancer	all	Anti-PD-L1 (atezolizumab)	9	16	0	6.2	-6.2	1
11	28552987	Urothelial cancer	smoking	Anti-PD-L1 (atezolizumab)	5	9	0	0	0	1
12	28552987	Urothelial cancer	non-smoking	Anti-PD-L1 (atezolizumab)	4	7	0	14.3	-14.3	1
13	29033130	Melanoma	all	Anti-PD-1 (nivolumab)	38	27	5.3	0	5.3	0.507
14	29033130	Melanoma	NIV3-PROG	Anti-PD-1 (nivolumab)	22	13	9.1	0	9.1	0.519
15	29033130	Melanoma	NIV3-NAIVE	Anti-PD-1 (nivolumab)	16	14	0	0	0	1
16	29301960	Clear cell renal cell carcinoma (ccRCC)	all	Anti-PD-1 (nivolumab)	11	13	0	0	0	1
17	29301960	Clear cell renal cell carcinoma (ccRCC)	VEGFRi	Anti-PD-1 (nivolumab)	6	1	0	0	0	1
18	29301960	Clear cell renal cell carcinoma (ccRCC)	non-VEGFRi	Anti-PD-1 (nivolumab)	5	12	0	0	0	1

Summary
Symbol	COL17A1
Name	collagen, type XVII, alpha 1
Aliases	BP180; BPAG2; BA16H23.2; BPA-2; ERED; 180 kDa bullous pemphigoid antigen 2; alpha 1 type XVII collagen; bA16 ......
Chromosomal Location	10q24.3
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	Relations between abundance of tumor-infiltrating lymphocytes (TILs) and expression, copy number, methylation, or mutation of COL17A1. The immune-related signatures of 28 TIL types from Charoentong's study, which can be viewed in the download page. For each cancer type, the relative abundance of TILs were inferred by using gene set variation analysis (GSVA) based on gene expression profile. In this tab, users can examine which kinds of TILs might be regulated by the current gene.

> Lymphocyte [ TOP ]

Summary
Symbol	COL17A1
Name	collagen, type XVII, alpha 1
Aliases	BP180; BPAG2; BA16H23.2; BPA-2; ERED; 180 kDa bullous pemphigoid antigen 2; alpha 1 type XVII collagen; bA16 ......
Chromosomal Location	10q24.3
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	Relations between three kinds of immunomodulators and expression, copy number, methylation, or mutation of COL17A1. These immunomo-dulators were collected from Charoentong's study. In this tab, users can examine which immunomodulators might be regulated by COL17A1. > Immunoinhibitor > Immunostimulator > MHC molecule

> Immunoinhibitor [ TOP ]

> Immunostimulator [ TOP ]

> MHC molecule [ TOP ]

Summary
Symbol	COL17A1
Name	collagen, type XVII, alpha 1
Aliases	BP180; BPAG2; BA16H23.2; BPA-2; ERED; 180 kDa bullous pemphigoid antigen 2; alpha 1 type XVII collagen; bA16 ......
Chromosomal Location	10q24.3
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	Relations between chemokines (or receptors) and expression, copy number, methylation, or mutation of COL17A1. In this tab, users can examine which chemokines (or receptors) might be regulated by the current gene. > Chemokine > Receptor

> Chemokine [ TOP ]

> Receptor [ TOP ]

Summary
Symbol	COL17A1
Name	collagen, type XVII, alpha 1
Aliases	BP180; BPAG2; BA16H23.2; BPA-2; ERED; 180 kDa bullous pemphigoid antigen 2; alpha 1 type XVII collagen; bA16 ......
Chromosomal Location	10q24.3
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	Distribution of COL17A1 expression across immune and molecular subtypes. > Immune subtype > Molecular subtype

> Immune subtype [ TOP ]

> Molecular subtype [ TOP ]

Summary
Symbol	COL17A1
Name	collagen, type XVII, alpha 1
Aliases	BP180; BPAG2; BA16H23.2; BPA-2; ERED; 180 kDa bullous pemphigoid antigen 2; alpha 1 type XVII collagen; bA16 ......
Chromosomal Location	10q24.3
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	Associations between COL17A1 and clinical features. > Overall survival analysis > Cancer stage > Tumor grade

> Overall survival [ TOP ]

> Stage [ TOP ]

> Grade [ TOP ]

Summary
Symbol	COL17A1
Name	collagen, type XVII, alpha 1
Aliases	BP180; BPAG2; BA16H23.2; BPA-2; ERED; 180 kDa bullous pemphigoid antigen 2; alpha 1 type XVII collagen; bA16 ......
Chromosomal Location	10q24.3
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	Drugs targeting COL17A1 collected from DrugBank database.

> Drugs from DrugBank database [ TOP ]
There is no record.

Browse COL17A1