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HUMAN:POTE1

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Species (Taxon ID) Homo sapiens (Human). (9606)
Gene Name(s) POT1
Protein Name(s) Protection of telomeres protein 1

hPot1 POT1-like telomere end-binding protein

External Links
UniProt Q9NUX5
EMBL AY823520
AK001230
AK001935
AK022580
AK026234
AC004925
AC096665
AC110791
CH471070
BC002923
AL050120
CCDS CCDS5793.1
PIR T08766
RefSeq NP_001036059.1
NP_056265.2
XP_006715980.1
UniGene Hs.31968
PDB 1XJV
3KJO
3KJP
5H65
5UN7
PDBsum 1XJV
3KJO
3KJP
5H65
5UN7
ProteinModelPortal Q9NUX5
SMR Q9NUX5
BioGrid 117417
CORUM Q9NUX5
DIP DIP-29610N
IntAct Q9NUX5
STRING 9606.ENSP00000350249
BindingDB Q9NUX5
ChEMBL CHEMBL5908
iPTMnet Q9NUX5
PhosphoSitePlus Q9NUX5
BioMuta POT1
DMDM 50401179
EPD Q9NUX5
MaxQB Q9NUX5
PaxDb Q9NUX5
PeptideAtlas Q9NUX5
PRIDE Q9NUX5
DNASU 25913
Ensembl ENST00000357628
GeneID 25913
KEGG hsa:25913
UCSC uc003vlm.4
CTD 25913
DisGeNET 25913
EuPathDB HostDB:ENSG00000128513.14
GeneCards POT1
HGNC HGNC:17284
HPA HPA068538
MalaCards POT1
MIM 606478
615848
616568
neXtProt NX_Q9NUX5
OpenTargets ENSG00000128513
Orphanet 67038
618
PharmGKB PA134934904
eggNOG KOG4757
ENOG410Z1J0
GeneTree ENSGT00390000018285
HOGENOM HOG000015271
HOVERGEN HBG053641
InParanoid Q9NUX5
KO K11109
OMA DKTSWIP
OrthoDB EOG091G01T8
PhylomeDB Q9NUX5
TreeFam TF328398
Reactome R-HSA-1221632
R-HSA-171306
R-HSA-2559586
SIGNOR Q9NUX5
ChiTaRS POT1
EvolutionaryTrace Q9NUX5
GeneWiki POT1
GenomeRNAi 25913
PRO PR:Q9NUX5
Proteomes UP000005640
Bgee ENSG00000128513
CleanEx HS_POT1
ExpressionAtlas Q9NUX5
Genevisible Q9NUX5
GO GO:0000781
GO:0000784
GO:0000783
GO:0005654
GO:0005634
GO:0070187
GO:1905773
GO:0017151
GO:1990955
GO:0098505
GO:0043047
GO:0010521
GO:0061821
GO:0042162
GO:0032508
GO:0070200
GO:0051974
GO:0032211
GO:1905776
GO:0060383
GO:0051096
GO:0051973
GO:0032212
GO:1905774
GO:0032210
GO:0032202
GO:0016233
GO:0007004
GO:0061820
InterPro IPR012340
IPR028389
IPR032042
IPR011564
PANTHER PTHR14513
Pfam PF02765
PF16686
SMART SM00976
SUPFAM SSF50249

Annotations

Qualifier GO ID GO term name Reference ECO ID ECO term name with/from Aspect Extension Notes Status
GO:2001032

regulation of double-strand break repair via nonhomologous end joining

PMID:29227966[1]

ECO:0000314

P

Figure 2 POT1 promotes NHEJ fidelity but inhibits NHEJ efficiency

complete
CACAO 13287

enables

GO:0061821

telomeric D-loop binding

PMID:19734539[2]

ECO:0000314

direct assay evidence used in manual assertion

F

occurs_at:(SO:0002171)

Seeded From UniProt

complete

involved_in

GO:0032212

positive regulation of telomere maintenance via telomerase

PMID:17237768[3]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

enables

GO:0098505

G-rich strand telomeric DNA binding

PMID:17237768[3]

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

involved_in

GO:1905774

regulation of DNA helicase activity

PMID:19734539[2]

ECO:0000314

direct assay evidence used in manual assertion

P

regulates_activity_of:(UniProtKB:P54132)

Seeded From UniProt

complete

involved_in

GO:1905776

positive regulation of DNA helicase activity

PMID:19734539[2]

ECO:0000314

direct assay evidence used in manual assertion

P

regulates_activity_of:(UniProtKB:Q14191)

Seeded From UniProt

complete

enables

GO:1905773

8-hydroxy-2'-deoxyguanosine DNA binding

PMID:19734539[2]

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

enables

GO:1990955

G-rich single-stranded DNA binding

PMID:19734539[2]

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

enables

GO:0098505

G-rich strand telomeric DNA binding

PMID:22763445[4]

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

involved_in

GO:0070200

establishment of protein localization to telomere

PMID:25589350[5]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

transports_or_maintains_localization_of:(UniProtKB:Q9BQ15)|transports_or_maintains_localization_of:(UniProtKB:O14746)

Seeded From UniProt

complete

involved_in

GO:0032210

regulation of telomere maintenance via telomerase

PMID:26586433[6]

ECO:0000316

genetic interaction evidence used in manual assertion

UniProtKB:Q13315

P

Seeded From UniProt

complete

NOT|enables

GO:0061849

telomeric G-quadruplex DNA binding

PMID:19734539[2]

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

involved_in

GO:0051973

positive regulation of telomerase activity

PMID:15181449[7]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

has_regulation_target:(UniProtKB:O14746)

Seeded From UniProt

complete

part_of

GO:0070187

shelterin complex

PMID:15383534[8]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

part_of

GO:0000784

nuclear chromosome, telomeric region

PMID:19135898[9]

ECO:0007005

high throughput direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

involved_in

GO:0061820

telomeric D-loop disassembly

PMID:22039056[10]

ECO:0000316

genetic interaction evidence used in manual assertion

UniProtKB:O94761

P

occurs_at:(GO:0000781)

Seeded From UniProt

complete

part_of

GO:0070187

shelterin complex

PMID:23685356[11]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

part_of

GO:0000784

nuclear chromosome, telomeric region

PMID:23685356[11]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

enables

GO:0042162

telomeric DNA binding

PMID:23685356[11]

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

part_of

GO:0070187

shelterin complex

PMID:21852327[12]

ECO:0000315

mutant phenotype evidence used in manual assertion

C

Seeded From UniProt

complete

part_of

GO:0000784

nuclear chromosome, telomeric region

PMID:24270157[13]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

enables

GO:0098505

G-rich strand telomeric DNA binding

PMID:21852327[12]

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

involved_in

GO:0060383

positive regulation of DNA strand elongation

PMID:16043710[14]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0051974

negative regulation of telomerase activity

PMID:15632080[15]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0051973

positive regulation of telomerase activity

PMID:17237768[3]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0051973

positive regulation of telomerase activity

PMID:16043710[14]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0051096

positive regulation of helicase activity

PMID:16030011[16]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

enables

GO:0043047

single-stranded telomeric DNA binding

PMID:15632080[15]

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

enables

GO:0043047

single-stranded telomeric DNA binding

PMID:17237767[17]

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

involved_in

GO:0032508

DNA duplex unwinding

PMID:16030011[16]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0032212

positive regulation of telomere maintenance via telomerase

PMID:12768206[18]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0032212

positive regulation of telomere maintenance via telomerase

PMID:12781132[19]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0032211

negative regulation of telomere maintenance via telomerase

PMID:15181449[7]

ECO:0000316

genetic interaction evidence used in manual assertion

UniProtKB:Q96AP0

P

Seeded From UniProt

complete

involved_in

GO:0032202

telomere assembly

PMID:16043710[14]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

enables

GO:0017151

DEAD/H-box RNA helicase binding

PMID:16030011[16]

ECO:0000353

physical interaction evidence used in manual assertion

UniProtKB:Q14191

F

Seeded From UniProt

complete

enables

GO:0017151

DEAD/H-box RNA helicase binding

PMID:16030011[16]

ECO:0000353

physical interaction evidence used in manual assertion

UniProtKB:P54132

F

Seeded From UniProt

complete

involved_in

GO:0016233

telomere capping

PMID:17632522[20]

ECO:0000316

genetic interaction evidence used in manual assertion

UniProtKB:Q96AP0

P

Seeded From UniProt

complete

involved_in

GO:0016233

telomere capping

PMID:15657433[21]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

enables

GO:0010521

telomerase inhibitor activity

PMID:15632080[15]

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

part_of

GO:0000783

nuclear telomere cap complex

PMID:16880378[22]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

enables

GO:0043047

single-stranded telomeric DNA binding

PMID:12768206[18]

ECO:0000315

mutant phenotype evidence used in manual assertion

F

Seeded From UniProt

complete

involved_in

GO:0007004

telomere maintenance via telomerase

PMID:12768206[18]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

part_of

GO:0000781

chromosome, telomeric region

PMID:12768206[18]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

enables

GO:0098505

G-rich strand telomeric DNA binding

PMID:21873635[23]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

PANTHER:PTN000376531
PomBase:SPAC26H5.06
UniProtKB:Q9NUX5

F

Seeded From UniProt

complete

involved_in

GO:0051974

negative regulation of telomerase activity

PMID:21873635[23]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

PANTHER:PTN000376531
SGD:S000002379
UniProtKB:Q9NUX5

P

Seeded From UniProt

complete

involved_in

GO:0032210

regulation of telomere maintenance via telomerase

PMID:21873635[23]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

PANTHER:PTN000376531
SGD:S000002379
UniProtKB:Q9NUX5

P

Seeded From UniProt

complete

involved_in

GO:0016233

telomere capping

PMID:21873635[23]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

MGI:MGI:1920086
PANTHER:PTN000376531
PomBase:SPAC26H5.06
SGD:S000002379
TAIR:locus:2164295
UniProtKB:Q9NUX5

P

Seeded From UniProt

complete

enables

GO:0010521

telomerase inhibitor activity

PMID:21873635[23]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

PANTHER:PTN000376531
SGD:S000002379
UniProtKB:Q9NUX5

F

Seeded From UniProt

complete

part_of

GO:0000783

nuclear telomere cap complex

PMID:21873635[23]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

MGI:MGI:1920086
MGI:MGI:2141503
PANTHER:PTN000376531
UniProtKB:Q9NUX5

C

Seeded From UniProt

complete

part_of

GO:0005634

nucleus

GO_REF:0000052

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

involved_in

GO:0000723

telomere maintenance

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR011564
InterPro:IPR028389

P

Seeded From UniProt

complete

part_of

GO:0000784

nuclear chromosome, telomeric region

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR011564

C

Seeded From UniProt

complete

enables

GO:0003677

DNA binding

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR011564

F

Seeded From UniProt

complete

enables

GO:0043047

single-stranded telomeric DNA binding

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR028389
InterPro:IPR032042

F

Seeded From UniProt

complete

involved_in

GO:0016233

telomere capping

PMID:17237768[3]
Reactome:R-HSA-181450
Reactome:R-HSA-176700

ECO:0000304

author statement supported by traceable reference used in manual assertion



P

Seeded From UniProt

complete

involved_in

GO:0032211

negative regulation of telomere maintenance via telomerase

PMID:17237768[3]

ECO:0000304

author statement supported by traceable reference used in manual assertion

P

Seeded From UniProt

complete

part_of

GO:0070187

shelterin complex

PMID:17237768[3]

ECO:0000304

author statement supported by traceable reference used in manual assertion

C

Seeded From UniProt

complete

part_of

GO:0005654

nucleoplasm

Reactome:R-HSA-3785711
Reactome:R-HSA-181450
Reactome:R-HSA-176700

ECO:0000304

author statement supported by traceable reference used in manual assertion



C

Seeded From UniProt

complete

part_of

GO:0000781

chromosome, telomeric region

GO_REF:0000037
GO_REF:0000039

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0779
UniProtKB-SubCell:SL-0276

C

Seeded From UniProt

complete

part_of

GO:0005694

chromosome

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0158

C

Seeded From UniProt

complete

enables

GO:0003677

DNA binding

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0238

F

Seeded From UniProt

complete

part_of

GO:0005634

nucleus

GO_REF:0000037
GO_REF:0000039

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0539
UniProtKB-SubCell:SL-0191

C

Seeded From UniProt

complete

Notes

References

See Help:References for how to manage references in GONUTS.

  1. Yu, Y et al. (2017) POT1 inhibits the efficiency but promotes the fidelity of nonhomologous end joining at non-telomeric DNA regions. Aging (Albany NY) 9 2529-2543 PubMed GONUTS page
  2. 2.0 2.1 2.2 2.3 2.4 2.5 Ghosh, A et al. (2009) Telomeric D-loops containing 8-oxo-2'-deoxyguanosine are preferred substrates for Werner and Bloom syndrome helicases and are bound by POT1. J. Biol. Chem. 284 31074-84 PubMed GONUTS page
  3. 3.0 3.1 3.2 3.3 3.4 3.5 Wang, F et al. (2007) The POT1-TPP1 telomere complex is a telomerase processivity factor. Nature 445 506-10 PubMed GONUTS page
  4. Chen, LY et al. (2012) The human CST complex is a terminator of telomerase activity. Nature 488 540-4 PubMed GONUTS page
  5. Pandita, RK et al. (2015) Single-strand DNA-binding protein SSB1 facilitates TERT recruitment to telomeres and maintains telomere G-overhangs. Cancer Res. 75 858-69 PubMed GONUTS page
  6. Tong, AS et al. (2015) ATM and ATR Signaling Regulate the Recruitment of Human Telomerase to Telomeres. Cell Rep 13 1633-46 PubMed GONUTS page
  7. 7.0 7.1 Liu, D et al. (2004) PTOP interacts with POT1 and regulates its localization to telomeres. Nat. Cell Biol. 6 673-80 PubMed GONUTS page
  8. Liu, D et al. (2004) Telosome, a mammalian telomere-associated complex formed by multiple telomeric proteins. J. Biol. Chem. 279 51338-42 PubMed GONUTS page
  9. Déjardin, J & Kingston, RE (2009) Purification of proteins associated with specific genomic Loci. Cell 136 175-86 PubMed GONUTS page
  10. Ghosh, AK et al. (2012) RECQL4, the protein mutated in Rothmund-Thomson syndrome, functions in telomere maintenance. J. Biol. Chem. 287 196-209 PubMed GONUTS page
  11. 11.0 11.1 11.2 Kappei, D et al. (2013) HOT1 is a mammalian direct telomere repeat-binding protein contributing to telomerase recruitment. EMBO J. 32 1681-701 PubMed GONUTS page
  12. 12.0 12.1 Choi, KH et al. (2011) Characterization of the DNA binding specificity of Shelterin complexes. Nucleic Acids Res. 39 9206-23 PubMed GONUTS page
  13. Grolimund, L et al. (2013) A quantitative telomeric chromatin isolation protocol identifies different telomeric states. Nat Commun 4 2848 PubMed GONUTS page
  14. 14.0 14.1 14.2 Zaug, AJ et al. (2005) Human POT1 disrupts telomeric G-quadruplexes allowing telomerase extension in vitro. Proc. Natl. Acad. Sci. U.S.A. 102 10864-9 PubMed GONUTS page
  15. 15.0 15.1 15.2 Kelleher, C et al. (2005) Human protection of telomeres 1 (POT1) is a negative regulator of telomerase activity in vitro. Mol. Cell. Biol. 25 808-18 PubMed GONUTS page
  16. 16.0 16.1 16.2 16.3 Opresko, PL et al. (2005) POT1 stimulates RecQ helicases WRN and BLM to unwind telomeric DNA substrates. J. Biol. Chem. 280 32069-80 PubMed GONUTS page
  17. Xin, H et al. (2007) TPP1 is a homologue of ciliate TEBP-beta and interacts with POT1 to recruit telomerase. Nature 445 559-62 PubMed GONUTS page
  18. 18.0 18.1 18.2 18.3 Loayza, D & De Lange, T (2003) POT1 as a terminal transducer of TRF1 telomere length control. Nature 423 1013-8 PubMed GONUTS page
  19. Colgin, LM et al. (2003) Human POT1 facilitates telomere elongation by telomerase. Curr. Biol. 13 942-6 PubMed GONUTS page
  20. Hockemeyer, D et al. (2007) Telomere protection by mammalian Pot1 requires interaction with Tpp1. Nat. Struct. Mol. Biol. 14 754-61 PubMed GONUTS page
  21. Yang, Q et al. (2005) POT1 and TRF2 cooperate to maintain telomeric integrity. Mol. Cell. Biol. 25 1070-80 PubMed GONUTS page
  22. O'Connor, MS et al. (2006) A critical role for TPP1 and TIN2 interaction in high-order telomeric complex assembly. Proc. Natl. Acad. Sci. U.S.A. 103 11874-9 PubMed GONUTS page
  23. 23.0 23.1 23.2 23.3 23.4 23.5 Gaudet, P et al. (2011) Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Brief. Bioinformatics 12 449-62 PubMed GONUTS page