POT1 (protection of telomeres 1)

2006-10-01 Affiliation

Identity

HGNC

POT1

LOCATION

7q31.33

LOCUSID

25913

ALIAS

CMM10,GLM9,HPOT1

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 25913
MIM: 606478
HGNC: 17284
Ensembl: ENSG00000128513

Variants:

dbSNP: 25913
ClinVar: 25913
TCGA: ENSG00000128513
COSMIC: POT1

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000128513	ENST00000357628	Q9NUX5
ENSG00000128513	ENST00000357628	A0A024R739
ENSG00000128513	ENST00000393329	A8MTK3
ENSG00000128513	ENST00000429326	Q5MJ33
ENSG00000128513	ENST00000430927	Q5MJ34
ENSG00000128513	ENST00000446993	C9JPG9
ENSG00000128513	ENST00000607932	Q5MJ34
ENSG00000128513	ENST00000608057	Q5MJ35
ENSG00000128513	ENST00000609106	B7Z7M5
ENSG00000128513	ENST00000609702	V9GZ00
ENSG00000128513	ENST00000653241	Q9NUX5
ENSG00000128513	ENST00000653241	A0A024R739
ENSG00000128513	ENST00000653274	A0A590UJF2
ENSG00000128513	ENST00000653819	Q5MJ33
ENSG00000128513	ENST00000653892	Q5MJ33
ENSG00000128513	ENST00000654766	A0A590UJF7
ENSG00000128513	ENST00000655761	Q9NUX5
ENSG00000128513	ENST00000655761	A0A024R739
ENSG00000128513	ENST00000657333	Q5MJ33
ENSG00000128513	ENST00000657892	A0A590UJR1
ENSG00000128513	ENST00000661898	A0A590UJP0
ENSG00000128513	ENST00000662531	A0A590UJM4
ENSG00000128513	ENST00000664330	Q5MJ33
ENSG00000128513	ENST00000664366	Q9NUX5
ENSG00000128513	ENST00000664366	A0A024R739
ENSG00000128513	ENST00000668382	Q9NUX5
ENSG00000128513	ENST00000668382	A0A024R739

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Shelterin complex	KEGG	hsa_M00424
Shelterin complex	KEGG	M00424
Cell Cycle	REACTOME	R-HSA-1640170
Chromosome Maintenance	REACTOME	R-HSA-73886
Telomere Maintenance	REACTOME	R-HSA-157579
Packaging Of Telomere Ends	REACTOME	R-HSA-171306
Meiosis	REACTOME	R-HSA-1500620
Meiotic synapsis	REACTOME	R-HSA-1221632
Cellular responses to stress	REACTOME	R-HSA-2262752
Cellular Senescence	REACTOME	R-HSA-2559583
DNA Damage/Telomere Stress Induced Senescence	REACTOME	R-HSA-2559586

References

Pubmed ID	Year	Title	Citations
17237768	2007	The POT1-TPP1 telomere complex is a telomerase processivity factor.	292
12768206	2003	POT1 as a terminal transducer of TRF1 telomere length control.	246
17237767	2007	TPP1 is a homologue of ciliate TEBP-beta and interacts with POT1 to recruit telomerase.	229
15558049	2004	Structure of human POT1 bound to telomeric single-stranded DNA provides a model for chromosome end-protection.	196
15181449	2004	PTOP interacts with POT1 and regulates its localization to telomeres.	169
19854130	2009	RPA-like mammalian Ctc1-Stn1-Ten1 complex binds to single-stranded DNA and protects telomeres independently of the Pot1 pathway.	162
21399625	2011	TERRA and hnRNPA1 orchestrate an RPA-to-POT1 switch on telomeric single-stranded DNA.	139
16043710	2005	Human POT1 disrupts telomeric G-quadruplexes allowing telomerase extension in vitro.	133
15973431	2005	POT1 protects telomeres from a transient DNA damage response and determines how human chromosomes end.	119
24686846	2014	Rare missense variants in POT1 predispose to familial cutaneous malignant melanoma.	111

Citation

Dessen P

POT1 (protection of telomeres 1)

Atlas Genet Cytogenet Oncol Haematol. 2006-10-01

Online version: http://atlasgeneticsoncology.org/gene/43423/pot1