POT1
entrez
25913
canonical
uniprot
Q9NUX5
canonical
ensembl
ENSG00000128513
resolver
ensp
ENSP00000350249
resolver
ensp
ENSP00000403088
resolver
ensp
ENSP00000499425
resolver
ensp
ENSP00000499506
resolver
ensp
ENSP00000499533
resolver
ensp
ENSP00000499781
resolver
enst
ENST00000429326
resolver
enst
ENST00000653819
resolver
enst
ENST00000653892
resolver
enst
ENST00000657333
resolver
enst
ENST00000664330
resolver
genesymbol
POT1
resolver
hgnc
HGNC:17284
resolver
uniprot
A0A590UJP5
resolver
uniprot
O95018
resolver
uniprot
Q5MJ33
resolver
uniprot
Q5MJ36
resolver
uniprot
Q9H662
resolver
uniprot
Q9NW19
resolver
uniprot
Q9UG95
resolver
uniprot_entry
A0A590UJP5_HUMAN
resolver
uniprot_entry
POTE1_HUMAN
resolver
uniprot_entry
Q5MJ33_HUMAN
resolver
uniprot_sec
O95018
resolver
uniprot_sec
Q5MJ36
resolver
uniprot_sec
Q9H662
resolver
uniprot_sec
Q9NW19
resolver
uniprot_sec
Q9UG95
resolver
amino_acid_sequence
MSLVPATNYIYTPLNQLKGGTIVNVYGVVKFFKPPYLSKGTDYCSVVTIVDQTNVKLTCLLFSGNYEALPIIYKNGDIVRFHRLKIQVYKKETQGITSSGFASLTFEGTLGAPIIPRTSSKYFNFTTEDHKMVEALRVWASTHMSPSWTLLKLCDVQPMQYFDLTCQLLGKAEVDGASFLLKVWDGTRTPFPSWRVLIQDLVLEGDLSHIHRLQNLTIDILVYDNHVHVARSLKVGSFLRIYSLHTKLQSMNSENQTMLSLEFHLHGGTSYGRGIRVLPESNSDVDQLKKDLESANLTANQHSDVICQSEPDDSFPSSGSVSLYEVERCQQLSATILTDHQYLERTPLCAILKQKAPQQYRIRAKLRSYKPRRLFQSVKLHCPKCHLLQEVPHEGDLDIIFQDGATKTPDVKLQNTSLYDSKIWTTKNQKGRKVAVHFVKNNGILPLSNECLLLIEGGTLSEICKLSNKFNSVIPVRSGHEDLELLDLSAPFLIQGTIHHYGCKQCSSLRSIQNLNSLVDKTSWIPSSVAEALGIVPLQYVFVMTFTLDDGTGVLEAYLMDSDKFFQIPASEVLMDDDLQKSVDMIMDMFCPPGIKIDAYPWLECFIKSYNVTNGTDNQICYQIFDTTVAEDVI
uniprot
proteins
disease_involvement
DISEASE: Tumor predisposition syndrome 3 (TPDS3) [MIM:615848]: An autosomal dominant disorder characterized by an increased risk for the development of various types of benign and malignant neoplasms throughout life, with age-dependent penetrance. Affected individuals can develop neoplasms involving epithelial, mesenchymal, and neuronal tissues, as well as lymphoid and myeloid cancers. The disorder is associated with elongated telomeres. {ECO:0000269|PubMed:24686846, ECO:0000269|PubMed:24686849, ECO:0000269|PubMed:25482530, ECO:0000269|PubMed:30586141, ECO:0000269|PubMed:37140166}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.; DISEASE: Cerebroretinal microangiopathy with calcifications and cysts 3 (CRMCC3) [MIM:620368]: An autosomal recessive disorder characterized by intrauterine growth retardation, retinal exudates, global developmental delay, neurologic regression, intracranial calcifications, and leukoencephalopathy. {ECO:0000269|PubMed:27013236}. Note=The disease may be caused by variants affecting the gene represented in this entry.; DISEASE: Pulmonary fibrosis, and/or bone marrow failure syndrome, telomere-related, 8 (PFBMFT8) [MIM:620367]: An autosomal dominant disease associated with shortened telomeres. Pulmonary fibrosis is the most common manifestation. Other features include aplastic anemia due to bone marrow failure, hepatic fibrosis, and increased cancer risk. Phenotype, age at onset, and severity are determined by telomere length. PFBMFT8 is characterized by the onset of progressive pulmonary fibrosis in adulthood, signs of bone marrow failure, such as thrombocytopenia, liver dysfunction, and features of dyskeratosis congenita, including premature graying of the hair, in some affected individuals. {ECO:0000269|PubMed:35420632}. Note=The disease may be caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Component of the telomerase ribonucleoprotein (RNP) complex that is essential for the replication of chromosome termini. Is a component of the double-stranded telomeric DNA-binding TRF1 complex which is involved in the regulation of telomere length by cis-inhibition of telomerase. Also acts as a single-stranded telomeric DNA-binding protein and thus may act as a downstream effector of the TRF1 complex and may transduce information about telomere maintenance and/or length to the telomere terminus. Component of the shelterin complex (telosome) that is involved in the regulation of telomere length and protection. Shelterin associates with arrays of double-stranded TTAGGG repeats added by telomerase and protects chromosome ends; without its protective activity, telomeres are no longer hidden from the DNA damage surveillance and chromosome ends are inappropriately processed by DNA repair pathways. Binds to two or more telomeric single-stranded 5'-TTAGGG-3' repeats (G-strand) and with high specificity to a minimal telomeric single-stranded 5'-TAGGGTTAG-3' sequence. Binds telomeric single-stranded sequences internally or at proximity of a 3'-end. Its activity is TERT dependent but it does not increase TERT activity by itself. In contrast, the ACD-POT1 heterodimer enhances telomere elongation by increasing telomerase processivity. {ECO:0000269|PubMed:12768206, ECO:0000269|PubMed:12781132, ECO:0000269|PubMed:16166375, ECO:0000269|PubMed:17237768, ECO:0000269|PubMed:20231318, ECO:0000269|PubMed:27013236, ECO:0000269|PubMed:35420632}.
uniprot
proteins
mass_dalton
71442
uniprot
proteins
protein_family
Telombin family
uniprot
proteins
pubmed
11349150
uniprot
proteins
pubmed
12391173
uniprot
proteins
pubmed
12768206
uniprot
proteins
pubmed
12781132
uniprot
proteins
pubmed
12853948
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
14715659
uniprot
proteins
pubmed
15231715
uniprot
proteins
pubmed
15316005
uniprot
proteins
pubmed
15383534
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15558049
uniprot
proteins
pubmed
16166375
uniprot
proteins
pubmed
17237768
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
19179534
uniprot
proteins
pubmed
20231318
uniprot
proteins
pubmed
24686846
uniprot
proteins
pubmed
24686849
uniprot
proteins
pubmed
25482530
uniprot
proteins
pubmed
27013236
uniprot
proteins
pubmed
30586141
uniprot
proteins
pubmed
35420632
uniprot
proteins
pubmed
37140166
uniprot
proteins
sequence_length
634
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:12391173, ECO:0000269|PubMed:27013236, ECO:0000269|PubMed:30586141, ECO:0000269|PubMed:35420632, ECO:0000269|PubMed:37140166}. Chromosome, telomere {ECO:0000269|PubMed:12391173, ECO:0000269|PubMed:27013236, ECO:0000269|PubMed:30586141, ECO:0000269|PubMed:35420632, ECO:0000269|PubMed:37140166}. Note=Colocalizes with telomeric DNA. {ECO:0000269|PubMed:12391173}.
uniprot
proteins