Protein: Q9NUX5

UniprotKB AC UniprotKB ID Gene name Full name Species Curated set
Q9NUX5 (Uniprot) POTE1_HUMAN POT1 Protection of telomeres protein 1 human No
Uniprot: 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. more..
MoonDB Dissimilar Functions
GO ID 1 Function 1 Module ID 1 GO ID 2 Function 2 Module ID 2 Association Probability (PrOnto) Interaction Probability (PrOnto)
GO:0007165 signal transduction 1 GO:0006725 cellular aromatic compound metabolic process 57, 239, 342, 345, 614 5.44e-126 5.27e-27
GO:0007165 signal transduction 1 GO:0034641 cellular nitrogen compound metabolic process 245, 477 4.22e-144 6.90e-18
GO:0007165 signal transduction 1 GO:0006139 nucleobase-containing compound metabolic process 405, 860 1.10e-111 5.07e-25
Biological Processes
Module ID (MoonGO) GO ID (BP) GO Name
1 GO:0035556 intracellular signal transduction
1 GO:0032268 regulation of cellular protein metabolic process
1 GO:0043067 regulation of programmed cell death
1 GO:0009966 regulation of signal transduction
38 GO:0007165 signal transduction
57 GO:0006139 nucleobase-containing compound metabolic process
211 GO:0034645 cellular macromolecule biosynthetic process
211 GO:0044271 cellular nitrogen compound biosynthetic process
211 GO:0090304 nucleic acid metabolic process
211 GO:0060255 regulation of macromolecule metabolic process
217 GO:0060255 regulation of macromolecule metabolic process
217 GO:0007165 signal transduction
237 GO:0022607 cellular component assembly
237 GO:0034645 cellular macromolecule biosynthetic process
237 GO:0044271 cellular nitrogen compound biosynthetic process
237 GO:0006464 cellular protein modification process
237 GO:0051649 establishment of localization in cell
237 GO:0010467 gene expression
237 GO:0031324 negative regulation of cellular metabolic process
237 GO:0010605 negative regulation of macromolecule metabolic process
237 GO:0051172 negative regulation of nitrogen compound metabolic process
237 GO:0090304 nucleic acid metabolic process
237 GO:0033365 protein localization to organelle
237 GO:0015031 protein transport
237 GO:0050790 regulation of catalytic activity
237 GO:0051128 regulation of cellular component organization
239 GO:0006139 nucleobase-containing compound metabolic process
245 GO:0044271 cellular nitrogen compound biosynthetic process
245 GO:0090304 nucleic acid metabolic process
245 GO:1901362 organic cyclic compound biosynthetic process
245 GO:2000112 regulation of cellular macromolecule biosynthetic process
245 GO:0019219 regulation of nucleobase-containing compound metabolic process
316 GO:0044267 cellular protein metabolic process
316 GO:0060255 regulation of macromolecule metabolic process
342 GO:0006139 nucleobase-containing compound metabolic process
342 GO:0060255 regulation of macromolecule metabolic process
345 GO:0006139 nucleobase-containing compound metabolic process
345 GO:0060255 regulation of macromolecule metabolic process
373 GO:0034645 cellular macromolecule biosynthetic process
373 GO:0006139 nucleobase-containing compound metabolic process
373 GO:0060255 regulation of macromolecule metabolic process
393 GO:0044267 cellular protein metabolic process
405 GO:0090304 nucleic acid metabolic process
405 GO:0060255 regulation of macromolecule metabolic process
405 GO:0019219 regulation of nucleobase-containing compound metabolic process
477 GO:0044271 cellular nitrogen compound biosynthetic process
477 GO:0090304 nucleic acid metabolic process
477 GO:1901362 organic cyclic compound biosynthetic process
477 GO:2000112 regulation of cellular macromolecule biosynthetic process
477 GO:0007165 signal transduction
540 GO:0022607 cellular component assembly
551 GO:0034645 cellular macromolecule biosynthetic process
551 GO:0090304 nucleic acid metabolic process
551 GO:0034654 nucleobase-containing compound biosynthetic process
551 GO:0010604 positive regulation of macromolecule metabolic process
551 GO:0051173 positive regulation of nitrogen compound metabolic process
614 GO:0006139 nucleobase-containing compound metabolic process
668 GO:0006464 cellular protein modification process
668 GO:0006796 phosphate-containing compound metabolic process
756 GO:0007165 signal transduction
761 GO:0031324 negative regulation of cellular metabolic process
761 GO:0010605 negative regulation of macromolecule metabolic process
761 GO:0051172 negative regulation of nitrogen compound metabolic process
761 GO:0090304 nucleic acid metabolic process
761 GO:0034654 nucleobase-containing compound biosynthetic process
761 GO:2000112 regulation of cellular macromolecule biosynthetic process
761 GO:0019219 regulation of nucleobase-containing compound metabolic process
860 GO:0090304 nucleic acid metabolic process
860 GO:0034654 nucleobase-containing compound biosynthetic process
860 GO:2000112 regulation of cellular macromolecule biosynthetic process
860 GO:0019219 regulation of nucleobase-containing compound metabolic process
Cellular Components
Module ID (MoonGO) GO ID (CC) GO Name
1 GO:0005829 cytosol
1 GO:0005634 nucleus
11 GO:0005634 nucleus
34 GO:0005634 nucleus
57 GO:0005634 nucleus
105 GO:0005634 nucleus
143 GO:0005634 nucleus
211 GO:0005829 cytosol
211 GO:0031981 nuclear lumen
217 GO:0005829 cytosol
217 GO:0043232 intracellular non-membrane-bounded organelle
237 GO:0005829 cytosol
237 GO:0012505 endomembrane system
237 GO:0005615 extracellular space
237 GO:0043232 intracellular non-membrane-bounded organelle
237 GO:0070013 intracellular organelle lumen
237 GO:0044428 nuclear part
237 GO:0031982 vesicle
239 GO:0043232 intracellular non-membrane-bounded organelle
239 GO:0031981 nuclear lumen
241 GO:0005829 cytosol
241 GO:0005634 nucleus
245 GO:0005634 nucleus
271 GO:0005634 nucleus
291 GO:0043232 intracellular non-membrane-bounded organelle
291 GO:0005634 nucleus
316 GO:0005634 nucleus
317 GO:0005829 cytosol
342 GO:0012505 endomembrane system
342 GO:0044428 nuclear part
345 GO:0070013 intracellular organelle lumen
345 GO:0005634 nucleus
393 GO:0043232 intracellular non-membrane-bounded organelle
393 GO:0005634 nucleus
405 GO:0005829 cytosol
405 GO:0043232 intracellular non-membrane-bounded organelle
405 GO:0070013 intracellular organelle lumen
405 GO:0005634 nucleus
477 GO:0005829 cytosol
477 GO:0070013 intracellular organelle lumen
477 GO:0044428 nuclear part
540 GO:0005829 cytosol
540 GO:0043232 intracellular non-membrane-bounded organelle
540 GO:0005634 nucleus
551 GO:0005829 cytosol
551 GO:0005615 extracellular space
551 GO:0043232 intracellular non-membrane-bounded organelle
551 GO:0005654 nucleoplasm
551 GO:0031982 vesicle
614 GO:0005829 cytosol
614 GO:0005634 nucleus
651 GO:0005829 cytosol
756 GO:0005576 extracellular region
756 GO:0005886 plasma membrane
756 GO:0031982 vesicle
761 GO:0005654 nucleoplasm
860 GO:0043232 intracellular non-membrane-bounded organelle
860 GO:0005634 nucleus
875 GO:0005856 cytoskeleton
GO ID (BP) GO Name Evidence Code (GO EC)
GO:0007004 telomere maintenance via telomerase IDA
GO:0016233 telomere capping TAS
GO:0032202 telomere assembly IDA
GO:0032210 regulation of telomere maintenance via telomerase IGI
GO:0032211 negative regulation of telomere maintenance via telomerase TAS
GO:0032212 positive regulation of telomere maintenance via telomerase IDA
GO:0032508 DNA duplex unwinding IDA
GO:0051096 positive regulation of helicase activity IDA
GO:0051973 positive regulation of telomerase activity IDA
GO:0051974 negative regulation of telomerase activity IDA
GO:0060383 positive regulation of DNA strand elongation IDA
GO:0061820 telomeric D-loop disassembly IGI
GO:0070200 establishment of protein localization to telomere IMP
GO:1905774 regulation of DNA helicase activity IDA
GO:1905776 positive regulation of DNA helicase activity IDA
GO ID (CC) GO Name Evidence Code (GO EC)
GO:0000781 chromosome, telomeric region IDA
GO:0000783 nuclear telomere cap complex IDA
GO:0000784 nuclear chromosome, telomeric region IDA
GO:0005634 nucleus IDA
GO:0005654 nucleoplasm TAS
GO:0070187 shelterin complex IDA
No pairs of PrOnto dissimilar CC GO terms found.
Interactor Also a MoonDB EMF protein
BAG3_HUMAN No
HS90B_HUMAN Yes: P08238 (MoonDB)
CHIP_HUMAN Yes: Q9UNE7 (MoonDB)
LASP1_HUMAN No
DCX_HUMAN No
COR1A_HUMAN No
GRN_HUMAN No
NUDC_HUMAN No
CSK2B_HUMAN Yes: P67870 (MoonDB)
1433E_HUMAN Yes: P62258 (MoonDB)
ZNF32_HUMAN No
HS71A_HUMAN No
PEX5_HUMAN No
ACTN4_HUMAN No
NCDN_HUMAN No
CB074_HUMAN No
1433G_HUMAN No
3BP1_HUMAN No
3HAO_HUMAN No
6PGL_HUMAN No
ACD_HUMAN Yes: Q96AP0 (MoonDB)
ACTB_HUMAN No
ACY1_HUMAN No
AF1L2_HUMAN No
AHNK_HUMAN No
AIPL1_HUMAN No
AL1A1_HUMAN No
AL3A1_HUMAN No
AMPD2_HUMAN No
ANKY2_HUMAN No
ANM7_HUMAN No
ANXA2_HUMAN No
ANXA4_HUMAN No
ARI3B_HUMAN No
ARRB1_HUMAN Yes: P49407 (MoonDB)
AT2L2_HUMAN No
BACH_HUMAN No
BIN2_HUMAN No
BPL1_HUMAN No
CALD1_HUMAN No
CCD32_HUMAN No
CCDC9_HUMAN No
CCM2_HUMAN No
CIP4_HUMAN No
CLIC3_HUMAN No
CNST_HUMAN No
COF1_HUMAN No
COF2_HUMAN No
CP4FB_HUMAN No
CPNE3_HUMAN No
CPPED_HUMAN No
CRBS_HUMAN No
CRK_HUMAN Yes: P46108 (MoonDB)
CX6A2_HUMAN No
DBNL_HUMAN No
DD19B_HUMAN No
DNPH1_HUMAN No
DOK2_HUMAN No
DP13B_HUMAN Yes: Q8NEU8 (MoonDB)
DPP3_HUMAN No
DPYL3_HUMAN No
DREB_HUMAN No
E41L1_HUMAN No
ECI1_HUMAN No
EF1D_HUMAN No
EIF3G_HUMAN No
ENOG_HUMAN No
ENSA_HUMAN No
EVL_HUMAN No
F131B_HUMAN No
F16P1_HUMAN No
FES_HUMAN No
G3P_HUMAN Yes: P04406 (MoonDB)
GA2L1_HUMAN No
GAMT_HUMAN No
GDIR1_HUMAN No
GFPT2_HUMAN No
GNMT_HUMAN No
GPA33_HUMAN No
GPR52_HUMAN No
HMOX1_HUMAN No
HNMT_HUMAN No
HXA3_HUMAN No
IF4B_HUMAN No
IFRD2_HUMAN No
IL1RA_HUMAN No
INO1_HUMAN No
INVO_HUMAN No
K1C18_HUMAN No
KCC1D_HUMAN No
KCRB_HUMAN No
KHDR1_HUMAN No
KIME_HUMAN No
LAMC3_HUMAN No
LDHA_HUMAN No
LDHB_HUMAN No
M4K2_HUMAN No
MADD_HUMAN No
MAGA4_HUMAN No
MAP4_HUMAN No
MAP7_HUMAN No
MDM2_HUMAN Yes: Q00987 (MoonDB)
MICA_HUMAN No
MT1X_HUMAN No
MVP_HUMAN No
MYO5C_HUMAN No
NOL3_HUMAN No
NP1L1_HUMAN No
NUDC2_HUMAN No
NXNL1_HUMAN No
P33MX_HUMAN No
PACN1_HUMAN No
PACN2_HUMAN No
PAGE2_HUMAN No
PAGE5_HUMAN No
PAK4_HUMAN No
PALM_HUMAN No
PCP4_HUMAN No
PDE1B_HUMAN No
PDLI2_HUMAN No
PFKAP_HUMAN No
PGM1_HUMAN No
PGM2_HUMAN No
PHYD1_HUMAN No
PRSR2_HUMAN No
PYM1_HUMAN No
RBSK_HUMAN No
RECQ4_HUMAN No
RGS14_HUMAN No
RIF1_HUMAN No
RPAP1_HUMAN No
RSSA_HUMAN No
RTN4_HUMAN No
SAHH_HUMAN No
SBDS_HUMAN No
SOX_HUMAN No
SPF27_HUMAN No
SRTD1_HUMAN No
ST1B1_HUMAN No
ST1C2_HUMAN No
ST4A1_HUMAN No
STIP1_HUMAN No
SYAP1_HUMAN No
SYSC_HUMAN No
SYUG_HUMAN No
TAGL_HUMAN No
TBB2A_HUMAN No
TBB4B_HUMAN No
TBCD_HUMAN No
TINF2_HUMAN Yes: Q9BSI4 (MoonDB)
TISB_HUMAN No
TOM34_HUMAN No
TPIS_HUMAN No
TRI16_HUMAN No
TWF2_HUMAN No
TYB10_HUMAN No
TYB4Y_HUMAN No
WIPI2_HUMAN No
XAGE2_HUMAN No
ZBED2_HUMAN No
ZBT49_HUMAN No
ZN790_HUMAN No
PMID Article Title
11349150 Pot1, the putative telomere end-binding protein in fission yeast and humans.
12391173 Human Pot1 (protection of telomeres) protein: cytolocalization, gene structure, and alternative splicing.
12768206 POT1 as a terminal transducer of TRF1 telomere length control.
12781132 Human POT1 facilitates telomere elongation by telomerase.
12853948 The DNA sequence of human chromosome 7.
14702039 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14715659 DNA binding features of human POT1: a nonamer 5'-TAGGGTTAG-3' minimal binding site, sequence specificity, and internal binding to multimeric sites.
15231715 POT1-interacting protein PIP1: a telomere length regulator that recruits POT1 to the TIN2/TRF1 complex.
15316005 TIN2 binds TRF1 and TRF2 simultaneously and stabilizes the TRF2 complex on telomeres.
15383534 Telosome, a mammalian telomere-associated complex formed by multiple telomeric proteins.
15489334 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15558049 Structure of human POT1 bound to telomeric single-stranded DNA provides a model for chromosome end-protection.
16166375 Shelterin: the protein complex that shapes and safeguards human telomeres.
17237768 The POT1-TPP1 telomere complex is a telomerase processivity factor.
17974005 The full-ORF clone resource of the German cDNA consortium.
19179534 A human telomerase holoenzyme protein required for Cajal body localization and telomere synthesis.
20231318 Functional interaction between telomere protein TPP1 and telomerase.
24686846 Rare missense variants in POT1 predispose to familial cutaneous malignant melanoma.
24686849 POT1 loss-of-function variants predispose to familial melanoma.
25482530 Germline mutations in shelterin complex genes are associated with familial glioma.
OMIM ID Disease Name
615848 Melanoma, cutaneous malignant 10
616568 Glioma 9
Domain Name Domain ID Source
Telomer_end-bd_POT1/Cdc13 IPR011564 InterPro
NA-bd_OB-fold IPR012340 InterPro
POT1 IPR028389 InterPro
POT1PC IPR032042 InterPro
POT1 PF02765 Pfam
POT1PC PF16686 Pfam
PTHR14513 PTHR14513 PANTHER
Telo_bind SM00976 SMART
SSF50249 SSF50249 SUPFAM
T08766 T08766 PIR