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Protein

Protection of telomeres protein 1

Gene

POT1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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.5 Publications

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection describes interesting single amino acid sites on the sequence that are not defined in any other subsection. This subsection can be displayed in different sections (‘Function’, ‘PTM / Processing’, ‘Pathology and Biotech’) according to its content.<p><a href='/help/site' target='_top'>More...</a></p>Sitei243DNA binding1

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionDNA-binding

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

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Reactomei
R-HSA-1221632 Meiotic synapsis
R-HSA-171306 Packaging Of Telomere Ends
R-HSA-2559586 DNA Damage/Telomere Stress Induced Senescence

SIGNOR Signaling Network Open Resource

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SIGNORi
Q9NUX5

Protein family/group databases

MoonDB Database of extreme multifunctional and moonlighting proteins

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MoonDBi
Q9NUX5 Predicted

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Protection of telomeres protein 1
Short name:
hPot1
Alternative name(s):
POT1-like telomere end-binding protein
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:POT1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 7

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000128513.14

Human Gene Nomenclature Database

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HGNCi
HGNC:17284 POT1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
606478 gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_Q9NUX5

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Chromosome, Nucleus, Telomere

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Melanoma, cutaneous malignant 10 (CMM10)2 Publications
Disease susceptibility is associated with variations affecting the gene represented in this entry.
Disease descriptionA malignant neoplasm of melanocytes, arising de novo or from a pre-existing benign nevus, which occurs most often in the skin but also may involve other sites.
See also OMIM:615848
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_07139089Y → C in CMM10; complete abolition of POT1-DNA complex formation, thus disrupting the interaction with telomeres and leading to elongated telomeres. 1 PublicationCorresponds to variant dbSNP:rs587777472EnsemblClinVar.1
Natural variantiVAR_07139194Q → E in CMM10; complete abolition of POT1-DNA complex formation, thus disrupting the interaction with telomeres and leading to elongated telomeres. 1 PublicationCorresponds to variant dbSNP:rs587777474EnsemblClinVar.1
Natural variantiVAR_071392137R → H in CMM10; increased telomere intensity signals and telomere fragility. 1 PublicationCorresponds to variant dbSNP:rs587777475EnsemblClinVar.1
Natural variantiVAR_071393224D → N in CMM10. 1 PublicationCorresponds to variant dbSNP:rs202187871EnsemblClinVar.1
Natural variantiVAR_071394270S → N in CMM10; significantly increased telomere length and numbers of fragile telomeres. 1 PublicationCorresponds to variant dbSNP:rs587777477EnsemblClinVar.1
Natural variantiVAR_071395273R → L in CMM10; complete abolition of POT1-DNA complex formation, thus disrupting the interaction with telomeres and leading to elongated telomeres. 1 PublicationCorresponds to variant dbSNP:rs587777476EnsemblClinVar.1
Natural variantiVAR_071396532A → P in CMM10. 1 Publication1
Natural variantiVAR_071397623Q → H in CMM10; increased telomere intensity signals and telomere fragility. 1 PublicationCorresponds to variant dbSNP:rs587777478EnsemblClinVar.1
Glioma 9 (GLM9)1 Publication
Disease susceptibility is associated with variations affecting the gene represented in this entry.
Disease descriptionGliomas are benign or malignant central nervous system neoplasms derived from glial cells. They comprise astrocytomas and glioblastoma multiforme that are derived from astrocytes, oligodendrogliomas derived from oligodendrocytes and ependymomas derived from ependymocytes.
See also OMIM:616568
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07571795G → C in GLM9. 1 PublicationCorresponds to variant dbSNP:rs797045168EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

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DisGeNETi
25913

MalaCards human disease database

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MalaCardsi
POT1
MIMi615848 phenotype
616568 phenotype

Open Targets

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OpenTargetsi
ENSG00000128513

Orphanet; a database dedicated to information on rare diseases and orphan drugs

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Orphaneti
251630 Anaplastic oligodendroglioma
67038 B-cell chronic lymphocytic leukemia
618 Familial melanoma
251627 Oligodendroglioma

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA134934904

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

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ChEMBLi
CHEMBL5908

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
POT1

Domain mapping of disease mutations (DMDM)

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DMDMi
50401179

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001217281 – 634Protection of telomeres protein 1Add BLAST634

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q9NUX5

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q9NUX5

MaxQB - The MaxQuant DataBase

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MaxQBi
Q9NUX5

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
Q9NUX5

PeptideAtlas

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PeptideAtlasi
Q9NUX5

PRoteomics IDEntifications database

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PRIDEi
Q9NUX5

ProteomicsDB human proteome resource

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ProteomicsDBi
82726
82727 [Q9NUX5-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q9NUX5

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
Q9NUX5

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Ubiquitous.2 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000128513 Expressed in 215 organ(s), highest expression level in stomach

CleanEx database of gene expression profiles

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CleanExi
HS_POT1

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q9NUX5 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q9NUX5 HS

Organism-specific databases

Human Protein Atlas

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HPAi
HPA068538

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Homodimer or homooligomer (PubMed:17237768). Component of the shelterin complex (telosome) composed of TERF1, TERF2, TINF2, TERF2IP, ACD and POT1 (PubMed:15316005, PubMed:15383534). Binds single-stranded telomeric DNA as a monomer (PubMed:15558049). Associated component of the telomerase holoenzyme complex (PubMed:19179534). Found in a complex with TERF1, TINF2 and TNKS1 (PubMed:12768206). Interacts with TNKS1. Forms heterodimers with ACD (PubMed:15231715). Identified in a complex with ACD and single-stranded telomeric DNA (PubMed:17237768).7 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
117417, 213 interactors

ComplexPortal: manually curated resource of macromolecular complexes

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ComplexPortali
CPX-152 Shelterin complex

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
Q9NUX5

Database of interacting proteins

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DIPi
DIP-29610N

Protein interaction database and analysis system

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IntActi
Q9NUX5, 183 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000350249

Chemistry databases

BindingDB database of measured binding affinities

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BindingDBi
Q9NUX5

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1634
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1XJVX-ray1.73A6-299[»]
3KJOX-ray1.80A1-299[»]
3KJPX-ray1.80A1-299[»]
5H65X-ray2.10A341-634[»]
5UN7X-ray2.10A330-634[»]

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
Q9NUX5

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q9NUX5

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

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EvolutionaryTracei
Q9NUX5

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni33 – 48DNA bindingAdd BLAST16
Regioni270 – 273DNA binding4

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the telombin family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG4757 Eukaryota
ENOG410Z1J0 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00390000018285

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000015271

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG053641

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q9NUX5

KEGG Orthology (KO)

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KOi
K11109

Identification of Orthologs from Complete Genome Data

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OMAi
LSNDCLI

Database of Orthologous Groups

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OrthoDBi
940962at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q9NUX5

TreeFam database of animal gene trees

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TreeFami
TF328398

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR012340 NA-bd_OB-fold
IPR028389 POT1
IPR032042 POT1PC
IPR011564 Telomer_end-bd_POT1/Cdc13

The PANTHER Classification System

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PANTHERi
PTHR14513 PTHR14513, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF02765 POT1, 1 hit
PF16686 POT1PC, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00976 Telo_bind, 1 hit

Superfamily database of structural and functional annotation

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SUPFAMi
SSF50249 SSF50249, 2 hits

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket
Note: A number of isoforms are produced.

This entry has 2 described isoforms and 12 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9NUX5-1) [UniParc]FASTAAdd to basket
Also known as: Variant 1

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MSLVPATNYI YTPLNQLKGG TIVNVYGVVK FFKPPYLSKG TDYCSVVTIV
60 70 80 90 100
DQTNVKLTCL LFSGNYEALP IIYKNGDIVR FHRLKIQVYK KETQGITSSG
110 120 130 140 150
FASLTFEGTL GAPIIPRTSS KYFNFTTEDH KMVEALRVWA STHMSPSWTL
160 170 180 190 200
LKLCDVQPMQ YFDLTCQLLG KAEVDGASFL LKVWDGTRTP FPSWRVLIQD
210 220 230 240 250
LVLEGDLSHI HRLQNLTIDI LVYDNHVHVA RSLKVGSFLR IYSLHTKLQS
260 270 280 290 300
MNSENQTMLS LEFHLHGGTS YGRGIRVLPE SNSDVDQLKK DLESANLTAN
310 320 330 340 350
QHSDVICQSE PDDSFPSSGS VSLYEVERCQ QLSATILTDH QYLERTPLCA
360 370 380 390 400
ILKQKAPQQY RIRAKLRSYK PRRLFQSVKL HCPKCHLLQE VPHEGDLDII
410 420 430 440 450
FQDGATKTPD VKLQNTSLYD SKIWTTKNQK GRKVAVHFVK NNGILPLSNE
460 470 480 490 500
CLLLIEGGTL SEICKLSNKF NSVIPVRSGH EDLELLDLSA PFLIQGTIHH
510 520 530 540 550
YGCKQCSSLR SIQNLNSLVD KTSWIPSSVA EALGIVPLQY VFVMTFTLDD
560 570 580 590 600
GTGVLEAYLM DSDKFFQIPA SEVLMDDDLQ KSVDMIMDMF CPPGIKIDAY
610 620 630
PWLECFIKSY NVTNGTDNQI CYQIFDTTVA EDVI
Length:634
Mass (Da):71,442
Last modified:October 1, 2000 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i123A12CABE708C91
GO
Isoform 2 (identifier: Q9NUX5-2) [UniParc]FASTAAdd to basket
Also known as: Variant 3

The sequence of this isoform differs from the canonical sequence as follows:
     532-538: ALGIVPL → DVNSVLV
     539-634: Missing.

Show »
Length:538
Mass (Da):60,534
Checksum:i7D04F3ECC01D448D
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 12 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
Q5MJ34Q5MJ34_HUMAN
Protection of telomeres protein 1 v...
POT1
518Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
Q5MJ35Q5MJ35_HUMAN
Protection of telomeres protein 1 v...
POT1
340Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
B7Z7M5B7Z7M5_HUMAN
Protection of telomeres protein 1
POT1
580Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A8MTK3A8MTK3_HUMAN
POT1 protection of telomeres 1 homo...
POT1 hCG_32923
503Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
V9GYE6V9GYE6_HUMAN
Protection of telomeres protein 1
POT1
119Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
C9JPG9C9JPG9_HUMAN
Protection of telomeres protein 1
POT1
82Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
V9GZ00V9GZ00_HUMAN
Protection of telomeres protein 1
POT1
73Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
Q5MJ33Q5MJ33_HUMAN
Protection of telomeres protein 1 v...
POT1
45Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H7C0Z6H7C0Z6_HUMAN
Protection of telomeres protein 1
POT1
85Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H7C4C7H7C4C7_HUMAN
Protection of telomeres protein 1
POT1
138Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
There are more potential isoformsShow all

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence BAB15404 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti410D → V in BAA91568 (PubMed:14702039).Curated1
Sequence conflicti412K → Q in BAB15404 (PubMed:14702039).Curated1
Sequence conflicti499H → D in CAB43281 (PubMed:17974005).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07139089Y → C in CMM10; complete abolition of POT1-DNA complex formation, thus disrupting the interaction with telomeres and leading to elongated telomeres. 1 PublicationCorresponds to variant dbSNP:rs587777472EnsemblClinVar.1
Natural variantiVAR_07139194Q → E in CMM10; complete abolition of POT1-DNA complex formation, thus disrupting the interaction with telomeres and leading to elongated telomeres. 1 PublicationCorresponds to variant dbSNP:rs587777474EnsemblClinVar.1
Natural variantiVAR_07571795G → C in GLM9. 1 PublicationCorresponds to variant dbSNP:rs797045168EnsemblClinVar.1
Natural variantiVAR_071392137R → H in CMM10; increased telomere intensity signals and telomere fragility. 1 PublicationCorresponds to variant dbSNP:rs587777475EnsemblClinVar.1
Natural variantiVAR_071393224D → N in CMM10. 1 PublicationCorresponds to variant dbSNP:rs202187871EnsemblClinVar.1
Natural variantiVAR_071394270S → N in CMM10; significantly increased telomere length and numbers of fragile telomeres. 1 PublicationCorresponds to variant dbSNP:rs587777477EnsemblClinVar.1
Natural variantiVAR_071395273R → L in CMM10; complete abolition of POT1-DNA complex formation, thus disrupting the interaction with telomeres and leading to elongated telomeres. 1 PublicationCorresponds to variant dbSNP:rs587777476EnsemblClinVar.1
Natural variantiVAR_034393529V → M. Corresponds to variant dbSNP:rs34973253Ensembl.1
Natural variantiVAR_071396532A → P in CMM10. 1 Publication1
Natural variantiVAR_071397623Q → H in CMM10; increased telomere intensity signals and telomere fragility. 1 PublicationCorresponds to variant dbSNP:rs587777478EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_010846532 – 538ALGIVPL → DVNSVLV in isoform 2. Curated7
Alternative sequenceiVSP_010847539 – 634Missing in isoform 2. CuratedAdd BLAST96

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AY823520 mRNA Translation: AAW22613.1
AK001230 mRNA Translation: BAA91568.1
AK001935 mRNA Translation: BAA91988.1
AK022580 mRNA Translation: BAB14110.1
AK026234 mRNA Translation: BAB15404.1 Different initiation.
AC004925 Genomic DNA Translation: AAD08852.1
AC096665 Genomic DNA No translation available.
AC110791 Genomic DNA No translation available.
CH471070 Genomic DNA Translation: EAW83616.1
BC002923 mRNA Translation: AAH02923.1
AL050120 mRNA Translation: CAB43281.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS5793.1 [Q9NUX5-1]

Protein sequence database of the Protein Information Resource

More...
PIRi
T08766

NCBI Reference Sequences

More...
RefSeqi
NP_001036059.1, NM_001042594.1
NP_056265.2, NM_015450.2 [Q9NUX5-1]
XP_006715980.1, XM_006715917.3 [Q9NUX5-1]

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.31968

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000357628; ENSP00000350249; ENSG00000128513 [Q9NUX5-1]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
25913

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:25913

UCSC genome browser

More...
UCSCi
uc003vlm.4 human [Q9NUX5-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY823520 mRNA Translation: AAW22613.1
AK001230 mRNA Translation: BAA91568.1
AK001935 mRNA Translation: BAA91988.1
AK022580 mRNA Translation: BAB14110.1
AK026234 mRNA Translation: BAB15404.1 Different initiation.
AC004925 Genomic DNA Translation: AAD08852.1
AC096665 Genomic DNA No translation available.
AC110791 Genomic DNA No translation available.
CH471070 Genomic DNA Translation: EAW83616.1
BC002923 mRNA Translation: AAH02923.1
AL050120 mRNA Translation: CAB43281.1
CCDSiCCDS5793.1 [Q9NUX5-1]
PIRiT08766
RefSeqiNP_001036059.1, NM_001042594.1
NP_056265.2, NM_015450.2 [Q9NUX5-1]
XP_006715980.1, XM_006715917.3 [Q9NUX5-1]
UniGeneiHs.31968

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1XJVX-ray1.73A6-299[»]
3KJOX-ray1.80A1-299[»]
3KJPX-ray1.80A1-299[»]
5H65X-ray2.10A341-634[»]
5UN7X-ray2.10A330-634[»]
ProteinModelPortaliQ9NUX5
SMRiQ9NUX5
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi117417, 213 interactors
ComplexPortaliCPX-152 Shelterin complex
CORUMiQ9NUX5
DIPiDIP-29610N
IntActiQ9NUX5, 183 interactors
STRINGi9606.ENSP00000350249

Chemistry databases

BindingDBiQ9NUX5
ChEMBLiCHEMBL5908

Protein family/group databases

MoonDBiQ9NUX5 Predicted

PTM databases

iPTMnetiQ9NUX5
PhosphoSitePlusiQ9NUX5

Polymorphism and mutation databases

BioMutaiPOT1
DMDMi50401179

Proteomic databases

EPDiQ9NUX5
jPOSTiQ9NUX5
MaxQBiQ9NUX5
PaxDbiQ9NUX5
PeptideAtlasiQ9NUX5
PRIDEiQ9NUX5
ProteomicsDBi82726
82727 [Q9NUX5-2]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
25913
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000357628; ENSP00000350249; ENSG00000128513 [Q9NUX5-1]
GeneIDi25913
KEGGihsa:25913
UCSCiuc003vlm.4 human [Q9NUX5-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
25913
DisGeNETi25913
EuPathDBiHostDB:ENSG00000128513.14

GeneCards: human genes, protein and diseases

More...
GeneCardsi
POT1
HGNCiHGNC:17284 POT1
HPAiHPA068538
MalaCardsiPOT1
MIMi606478 gene
615848 phenotype
616568 phenotype
neXtProtiNX_Q9NUX5
OpenTargetsiENSG00000128513
Orphaneti251630 Anaplastic oligodendroglioma
67038 B-cell chronic lymphocytic leukemia
618 Familial melanoma
251627 Oligodendroglioma
PharmGKBiPA134934904

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG4757 Eukaryota
ENOG410Z1J0 LUCA
GeneTreeiENSGT00390000018285
HOGENOMiHOG000015271
HOVERGENiHBG053641
InParanoidiQ9NUX5
KOiK11109
OMAiLSNDCLI
OrthoDBi940962at2759
PhylomeDBiQ9NUX5
TreeFamiTF328398

Enzyme and pathway databases

ReactomeiR-HSA-1221632 Meiotic synapsis
R-HSA-171306 Packaging Of Telomere Ends
R-HSA-2559586 DNA Damage/Telomere Stress Induced Senescence
SIGNORiQ9NUX5

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
POT1 human
EvolutionaryTraceiQ9NUX5

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
POT1

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
25913

Protein Ontology

More...
PROi
PR:Q9NUX5

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000128513 Expressed in 215 organ(s), highest expression level in stomach
CleanExiHS_POT1
ExpressionAtlasiQ9NUX5 baseline and differential
GenevisibleiQ9NUX5 HS

Family and domain databases

InterProiView protein in InterPro
IPR012340 NA-bd_OB-fold
IPR028389 POT1
IPR032042 POT1PC
IPR011564 Telomer_end-bd_POT1/Cdc13
PANTHERiPTHR14513 PTHR14513, 1 hit
PfamiView protein in Pfam
PF02765 POT1, 1 hit
PF16686 POT1PC, 1 hit
SMARTiView protein in SMART
SM00976 Telo_bind, 1 hit
SUPFAMiSSF50249 SSF50249, 2 hits

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiPOTE1_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9NUX5
Secondary accession number(s): O95018
, Q5MJ36, Q9H662, Q9NW19, Q9UG95
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 19, 2004
Last sequence update: October 1, 2000
Last modified: January 16, 2019
This is version 174 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
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