InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: POT1

Summary

InnateDB Protein

IDBP-39153.6

Last Modified

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

Gene Symbol

POT1

Protein Name

protection of telomeres 1 homolog (S. pombe)

Synonyms

CMM10; HPOT1;

Species

Homo sapiens

Ensembl Protein

ENSP00000350249

InnateDB Gene

IDBG-39151 (POT1)

Protein Structure

UniProt Annotation

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. {ECO:0000269PubMed:12768206, ECO:0000269PubMed:12781132, ECO:0000269PubMed:16166375, ECO:0000269PubMed:17237768, ECO:0000269PubMed:20231318}.

Subcellular Localization

Nucleus {ECO:0000269PubMed:12391173}. Chromosome, telomere {ECO:0000269PubMed:12391173}. Note=Colocalizes with telomeric DNA.

Disease Associations

Tissue Specificity

Ubiquitous. {ECO:0000269PubMed:11349150, ECO:0000269PubMed:12391173}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 214 experimentally validated interaction(s) in this database.
They are also associated with 4 interaction(s) predicted by orthology.

Experimentally validated
Total	216 [view]
Protein-Protein	214 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	1 [view]
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	4 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003677	DNA binding
GO:0005515	protein binding
GO:0010521	telomerase inhibitor activity
GO:0017151	DEAD/H-box RNA helicase binding
GO:0043047	single-stranded telomeric DNA binding

Biological Process

GO:0000723	telomere maintenance
GO:0007004	telomere maintenance via telomerase
GO:0016233	telomere capping
GO:0032203	telomere formation via telomerase
GO:0032211	negative regulation of telomere maintenance via telomerase
GO:0032212	positive regulation of telomere maintenance via telomerase
GO:0032508	DNA duplex unwinding
GO:0051096	positive regulation of helicase activity
GO:0051973	positive regulation of telomerase activity
GO:0051974	negative regulation of telomerase activity
GO:0060383	positive regulation of DNA strand elongation

Cellular Component

GO:0000781	chromosome, telomeric region
GO:0000783	nuclear telomere cap complex
GO:0000784	nuclear chromosome, telomeric region
GO:0005634	nucleus
GO:0005654	nucleoplasm
GO:0005737	cytoplasm