TISIDB

Summary
Symbol	POT1
Name	protection of telomeres 1
Aliases	hPot1; DKFZp586D211; protection of telomeres 1 homolog (S. pombe); CMM10; POT1-like telomere end-binding pro ......
Chromosomal Location	7q31.33
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	Nucleus Chromosome, telomere Note=Colocalizes with telomeric DNA.
Domain	PF02765 Telomeric single stranded DNA binding POT1/CDC13 PF16686 ssDNA-binding domain of telomere protection protein
Function	Component of the telomerase ribonucleoprotein (RNP) complex that is essential for the replication of chromosome termini. Is a component of the double-stranded telomeric DNA-binding TRF1 complex which is involved in the regulation of telomere length by cis-inhibition of telomerase. Also acts as a single-stranded telomeric DNA-binding protein and thus may act as a downstream effector of the TRF1 complex and may transduce information about telomere maintenance and/or length to the telomere terminus. Component of the shelterin complex (telosome) that is involved in the regulation of telomere length and protection. Shelterin associates with arrays of double-stranded TTAGGG repeats added by telomerase and protects chromosome ends; without its protective activity, telomeres are no longer hidden from the DNA damage surveillance and chromosome ends are inappropriately processed by DNA repair pathways. Binds to two or more telomeric single-stranded 5'-TTAGGG-3' repeats (G-strand) and with high specificity to a minimal telomeric single-stranded 5'-TAGGGTTAG-3' sequence. Binds telomeric single-stranded sequences internally or at proximity of a 3'-end. Its activity is TERT dependent but it does not increase TERT activity by itself. In contrast, the ACD-POT1 heterodimer enhances telomere elongation by increasing telomerase processivity.

> Gene Ontology [ TOP ]
Biological Process	GO:0000723 telomere maintenance GO:0006278 RNA-dependent DNA biosynthetic process GO:0007004 telomere maintenance via telomerase GO:0010833 telomere maintenance via telomere lengthening GO:0016233 telomere capping GO:0022616 DNA strand elongation GO:0032200 telomere organization GO:0032202 telomere assembly GO:0032204 regulation of telomere maintenance GO:0032206 positive regulation of telomere maintenance GO:0032210 regulation of telomere maintenance via telomerase GO:0032212 positive regulation of telomere maintenance via telomerase GO:0032392 DNA geometric change GO:0032508 DNA duplex unwinding GO:0032844 regulation of homeostatic process GO:0032846 positive regulation of homeostatic process GO:0033044 regulation of chromosome organization GO:0034502 protein localization to chromosome GO:0051052 regulation of DNA metabolic process GO:0051053 negative regulation of DNA metabolic process GO:0051054 positive regulation of DNA metabolic process GO:0051095 regulation of helicase activity GO:0051096 positive regulation of helicase activity GO:0051348 negative regulation of transferase activity GO:0051972 regulation of telomerase activity GO:0051973 positive regulation of telomerase activity GO:0051974 negative regulation of telomerase activity GO:0060249 anatomical structure homeostasis GO:0060382 regulation of DNA strand elongation GO:0060383 positive regulation of DNA strand elongation GO:0070198 protein localization to chromosome, telomeric region GO:0070199 establishment of protein localization to chromosome GO:0070200 establishment of protein localization to telomere GO:0071103 DNA conformation change GO:0071897 DNA biosynthetic process GO:1904356 regulation of telomere maintenance via telomere lengthening GO:1904358 positive regulation of telomere maintenance via telomere lengthening GO:2000278 regulation of DNA biosynthetic process GO:2000279 negative regulation of DNA biosynthetic process GO:2000573 positive regulation of DNA biosynthetic process GO:2001252 positive regulation of chromosome organization
Molecular Function	GO:0003697 single-stranded DNA binding GO:0004857 enzyme inhibitor activity GO:0010521 telomerase inhibitor activity GO:0017151 DEAD/H-box RNA helicase binding GO:0042162 telomeric DNA binding GO:0043047 single-stranded telomeric DNA binding GO:0098505 G-rich strand telomeric DNA binding GO:0098847 sequence-specific single stranded DNA binding
Cellular Component	GO:0000781 chromosome, telomeric region GO:0000782 telomere cap complex GO:0000783 nuclear telomere cap complex GO:0000784 nuclear chromosome, telomeric region GO:0032993 protein-DNA complex GO:0044454 nuclear chromosome part GO:0070187 telosome GO:0098687 chromosomal region

> KEGG and Reactome Pathway [ TOP ]
KEGG	-
Reactome	R-HSA-1640170: Cell Cycle R-HSA-2559583: Cellular Senescence R-HSA-2262752: Cellular responses to stress R-HSA-73886: Chromosome Maintenance R-HSA-2559586: DNA Damage/Telomere Stress Induced Senescence R-HSA-1500620: Meiosis R-HSA-1221632: Meiotic synapsis R-HSA-171306: Packaging Of Telomere Ends R-HSA-157579: Telomere Maintenance

Summary
Symbol	POT1
Name	protection of telomeres 1
Aliases	hPot1; DKFZp586D211; protection of telomeres 1 homolog (S. pombe); CMM10; POT1-like telomere end-binding pro ......
Chromosomal Location	7q31.33
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	Literatures that report relations between POT1 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 [ TOP ]
There is no record.

Summary
Symbol	POT1
Name	protection of telomeres 1
Aliases	hPot1; DKFZp586D211; protection of telomeres 1 homolog (S. pombe); CMM10; POT1-like telomere end-binding pro ......
Chromosomal Location	7q31.33
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 POT1 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	NA/NS	NA/NS
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	POT1
Name	protection of telomeres 1
Aliases	hPot1; DKFZp586D211; protection of telomeres 1 homolog (S. pombe); CMM10; POT1-like telomere end-binding pro ......
Chromosomal Location	7q31.33
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 POT1 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	0.07	0.8
2	26997480	Melanoma	MAPKi	Anti-PD-1 (pembrolizumab and nivolumab)	6	5	0.141	0.92
3	26997480	Melanoma	non-MAPKi	Anti-PD-1 (pembrolizumab and nivolumab)	8	7	0.018	0.987
4	28552987	Urothelial cancer	all	Anti-PD-L1 (atezolizumab)	9	16	-0.465	0.257
5	28552987	Urothelial cancer	smoking	Anti-PD-L1 (atezolizumab)	5	9	-0.861	0.515
6	28552987	Urothelial cancer	non-smoking	Anti-PD-L1 (atezolizumab)	4	7	0.035	0.983
7	29033130	Melanoma	all	Anti-PD-1 (nivolumab)	26	23	-0.296	0.403
8	29033130	Melanoma	NIV3-PROG	Anti-PD-1 (nivolumab)	15	11	-0.47	0.761
9	29033130	Melanoma	NIV3-NAIVE	Anti-PD-1 (nivolumab)	11	12	-0.081	0.962
10	29301960	Clear cell renal cell carcinoma (ccRCC)	all	Anti-PD-1 (nivolumab)	4	8	0.024	0.983
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	0.217	0.905
13	29443960	Urothelial cancer	all	Anti-PD-L1 (atezolizumab)	68	230	0.054	0.448

> Mutation difference between responders and non-responders

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Points in the above scatter plot represent the mutation difference of POT1 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	0	0	1
2	25765070	Non-small cell lung cancer (NSCLC)	smoking	Anti-PD-1 (pembrolizumab)	10	3	0	0	0	1
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	14.8	1.4	13.4	0.0181
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	14.8	1.7	13.1	0.032
7	26997480	Melanoma	all	Anti-PD-1 (pembrolizumab and nivolumab)	21	17	0	0	0	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	0	0	0	1
10	28552987	Urothelial cancer	all	Anti-PD-L1 (atezolizumab)	9	16	11.1	6.2	4.9	1
11	28552987	Urothelial cancer	smoking	Anti-PD-L1 (atezolizumab)	5	9	20	11.1	8.9	1
12	28552987	Urothelial cancer	non-smoking	Anti-PD-L1 (atezolizumab)	4	7	0	0	0	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	4.5	0	4.5	1
15	29033130	Melanoma	NIV3-NAIVE	Anti-PD-1 (nivolumab)	16	14	6.2	0	6.2	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	POT1
Name	protection of telomeres 1
Aliases	hPot1; DKFZp586D211; protection of telomeres 1 homolog (S. pombe); CMM10; POT1-like telomere end-binding pro ......
Chromosomal Location	7q31.33
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	Relations between abundance of tumor-infiltrating lymphocytes (TILs) and expression, copy number, methylation, or mutation of POT1. 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	POT1
Name	protection of telomeres 1
Aliases	hPot1; DKFZp586D211; protection of telomeres 1 homolog (S. pombe); CMM10; POT1-like telomere end-binding pro ......
Chromosomal Location	7q31.33
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	Relations between three kinds of immunomodulators and expression, copy number, methylation, or mutation of POT1. These immunomo-dulators were collected from Charoentong's study. In this tab, users can examine which immunomodulators might be regulated by POT1. > Immunoinhibitor > Immunostimulator > MHC molecule

> Immunoinhibitor [ TOP ]

> Immunostimulator [ TOP ]

> MHC molecule [ TOP ]

Summary
Symbol	POT1
Name	protection of telomeres 1
Aliases	hPot1; DKFZp586D211; protection of telomeres 1 homolog (S. pombe); CMM10; POT1-like telomere end-binding pro ......
Chromosomal Location	7q31.33
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	Relations between chemokines (or receptors) and expression, copy number, methylation, or mutation of POT1. 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	POT1
Name	protection of telomeres 1
Aliases	hPot1; DKFZp586D211; protection of telomeres 1 homolog (S. pombe); CMM10; POT1-like telomere end-binding pro ......
Chromosomal Location	7q31.33
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	Distribution of POT1 expression across immune and molecular subtypes. > Immune subtype > Molecular subtype

> Immune subtype [ TOP ]

> Molecular subtype [ TOP ]

Summary
Symbol	POT1
Name	protection of telomeres 1
Aliases	hPot1; DKFZp586D211; protection of telomeres 1 homolog (S. pombe); CMM10; POT1-like telomere end-binding pro ......
Chromosomal Location	7q31.33
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	Associations between POT1 and clinical features. > Overall survival analysis > Cancer stage > Tumor grade

> Overall survival [ TOP ]

> Stage [ TOP ]

> Grade [ TOP ]

Summary
Symbol	POT1
Name	protection of telomeres 1
Aliases	hPot1; DKFZp586D211; protection of telomeres 1 homolog (S. pombe); CMM10; POT1-like telomere end-binding pro ......
Chromosomal Location	7q31.33
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	Drugs targeting POT1 collected from DrugBank database.

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

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