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Protein

Protection of telomeres protein 1

Gene

POT1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

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
Sitei243DNA binding1

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionDNA-binding

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

Protein family/group databases

MoonDBiQ9NUX5 Predicted

Names & Taxonomyi

Protein namesi
Recommended name:
Protection of telomeres protein 1
Short name:
hPot1
Alternative name(s):
POT1-like telomere end-binding protein
Gene namesi
Name:POT1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 7

Organism-specific databases

EuPathDBiHostDB:ENSG00000128513.14
HGNCiHGNC:17284 POT1
MIMi606478 gene
neXtProtiNX_Q9NUX5

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

Pathology & Biotechi

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
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

DisGeNETi25913
MalaCardsiPOT1
MIMi615848 phenotype
616568 phenotype
OpenTargetsiENSG00000128513
Orphaneti251630 Anaplastic oligodendroglioma
67038 B-cell chronic lymphocytic leukemia
618 Familial melanoma
251627 Oligodendroglioma
PharmGKBiPA134934904

Chemistry databases

ChEMBLiCHEMBL5908

Polymorphism and mutation databases

BioMutaiPOT1
DMDMi50401179

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001217281 – 634Protection of telomeres protein 1Add BLAST634

Proteomic databases

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

PTM databases

iPTMnetiQ9NUX5
PhosphoSitePlusiQ9NUX5

Expressioni

Tissue specificityi

Ubiquitous.2 Publications

Gene expression databases

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

Organism-specific databases

HPAiHPA068538

Interactioni

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

Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

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

Chemistry databases

BindingDBiQ9NUX5

Structurei

Secondary structure

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

3D structure databases

ProteinModelPortaliQ9NUX5
SMRiQ9NUX5
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ9NUX5

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni33 – 48DNA bindingAdd BLAST16
Regioni270 – 273DNA binding4

Sequence similaritiesi

Belongs to the telombin family.Curated

Phylogenomic databases

eggNOGiKOG4757 Eukaryota
ENOG410Z1J0 LUCA
GeneTreeiENSGT00390000018285
HOGENOMiHOG000015271
HOVERGENiHBG053641
InParanoidiQ9NUX5
KOiK11109
OMAiLSNDCLI
OrthoDBiEOG091G01T8
PhylomeDBiQ9NUX5
TreeFamiTF328398

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

Sequences (2+)i

Sequence statusi: Complete.

This entry describes 2 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
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

Computationally mapped potential isoform sequencesi

There are 12 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
Q5MJ35Q5MJ35_HUMAN
Protection of telomeres protein 1 v...
POT1
340Annotation score:
Q5MJ34Q5MJ34_HUMAN
Protection of telomeres protein 1 v...
POT1
518Annotation score:
B7Z7M5B7Z7M5_HUMAN
Protection of telomeres protein 1
POT1
580Annotation score:
A8MTK3A8MTK3_HUMAN
POT1 protection of telomeres 1 homo...
POT1 hCG_32923
503Annotation score:
V9GYE6V9GYE6_HUMAN
Protection of telomeres protein 1
POT1
119Annotation score:
C9JPG9C9JPG9_HUMAN
Protection of telomeres protein 1
POT1
82Annotation score:
V9GZ00V9GZ00_HUMAN
Protection of telomeres protein 1
POT1
73Annotation score:
Q5MJ33Q5MJ33_HUMAN
Protection of telomeres protein 1 v...
POT1
45Annotation score:
V9GY10V9GY10_HUMAN
Protection of telomeres protein 1
POT1
77Annotation score:
H7C0Z6H7C0Z6_HUMAN
Protection of telomeres protein 1
POT1
85Annotation score:
There are more potential isoformsShow all

Sequence cautioni

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

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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
Alternative sequenceiVSP_010846532 – 538ALGIVPL → DVNSVLV in isoform 2. Curated7
Alternative sequenceiVSP_010847539 – 634Missing in isoform 2. CuratedAdd BLAST96

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

Genome annotation databases

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

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

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
MaxQBiQ9NUX5
PaxDbiQ9NUX5
PeptideAtlasiQ9NUX5
PRIDEiQ9NUX5
ProteomicsDBi82726
82727 [Q9NUX5-2]

Protocols and materials databases

DNASUi25913
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi25913
DisGeNETi25913
EuPathDBiHostDB:ENSG00000128513.14
GeneCardsiPOT1
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
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4757 Eukaryota
ENOG410Z1J0 LUCA
GeneTreeiENSGT00390000018285
HOGENOMiHOG000015271
HOVERGENiHBG053641
InParanoidiQ9NUX5
KOiK11109
OMAiLSNDCLI
OrthoDBiEOG091G01T8
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

ChiTaRSiPOT1 human
EvolutionaryTraceiQ9NUX5
GeneWikiiPOT1
GenomeRNAii25913
PROiPR:Q9NUX5
SOURCEiSearch...

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
ProtoNetiSearch...

Entry informationi

Entry nameiPOTE1_HUMAN
AccessioniPrimary (citable) accession number: Q9NUX5
Secondary accession number(s): O95018
, Q5MJ36, Q9H662, Q9NW19, Q9UG95
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 19, 2004
Last sequence update: October 1, 2000
Last modified: November 7, 2018
This is version 173 of the entry and version 1 of the sequence. See complete history.
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.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

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