Details for: POT1

Gene ID: 25913

Symbol: POT1

Ensembl ID: ENSG00000128513

Description: protection of telomeres 1

Associated with

Other Information

Genular Protein ID: 2137025161

Symbol: POTE1_HUMAN

Name: Protection of telomeres protein 1

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 11349150

Title: Pot1, the putative telomere end-binding protein in fission yeast and humans.

PubMed ID: 11349150

DOI: 10.1126/science.1060036

PubMed ID: 12391173

Title: Human Pot1 (protection of telomeres) protein: cytolocalization, gene structure, and alternative splicing.

PubMed ID: 12391173

DOI: 10.1128/mcb.22.22.8079-8087.2002

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 12853948

Title: The DNA sequence of human chromosome 7.

PubMed ID: 12853948

DOI: 10.1038/nature01782

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 17974005

Title: The full-ORF clone resource of the German cDNA consortium.

PubMed ID: 17974005

DOI: 10.1186/1471-2164-8-399

PubMed ID: 12781132

Title: Human POT1 facilitates telomere elongation by telomerase.

PubMed ID: 12781132

DOI: 10.1016/s0960-9822(03)00339-7

PubMed ID: 12768206

Title: POT1 as a terminal transducer of TRF1 telomere length control.

PubMed ID: 12768206

DOI: 10.1038/nature01688

PubMed ID: 14715659

Title: DNA binding features of human POT1: a nonamer 5'-TAGGGTTAG-3' minimal binding site, sequence specificity, and internal binding to multimeric sites.

PubMed ID: 14715659

DOI: 10.1074/jbc.m312309200

PubMed ID: 15231715

Title: POT1-interacting protein PIP1: a telomere length regulator that recruits POT1 to the TIN2/TRF1 complex.

PubMed ID: 15231715

DOI: 10.1101/gad.1215404

PubMed ID: 15316005

Title: TIN2 binds TRF1 and TRF2 simultaneously and stabilizes the TRF2 complex on telomeres.

PubMed ID: 15316005

DOI: 10.1074/jbc.m409047200

PubMed ID: 15383534

Title: Telosome, a mammalian telomere-associated complex formed by multiple telomeric proteins.

PubMed ID: 15383534

DOI: 10.1074/jbc.m409293200

PubMed ID: 16166375

Title: Shelterin: the protein complex that shapes and safeguards human telomeres.

PubMed ID: 16166375

DOI: 10.1101/gad.1346005

PubMed ID: 17237768

Title: The POT1-TPP1 telomere complex is a telomerase processivity factor.

PubMed ID: 17237768

DOI: 10.1038/nature05454

PubMed ID: 19179534

Title: A human telomerase holoenzyme protein required for Cajal body localization and telomere synthesis.

PubMed ID: 19179534

DOI: 10.1126/science.1165357

PubMed ID: 20231318

Title: Functional interaction between telomere protein TPP1 and telomerase.

PubMed ID: 20231318

DOI: 10.1101/gad.1881810

PubMed ID: 24686849

Title: POT1 loss-of-function variants predispose to familial melanoma.

PubMed ID: 24686849

DOI: 10.1038/ng.2947

PubMed ID: 27013236

Title: A POT1 mutation implicates defective telomere end fill-in and telomere truncations in Coats plus.

PubMed ID: 27013236

DOI: 10.1101/gad.276873.115

PubMed ID: 25482530

Title: Germline mutations in shelterin complex genes are associated with familial glioma.

PubMed ID: 25482530

DOI: 10.1093/jnci/dju384

PubMed ID: 35420632

Title: Telomere dysfunction implicates POT1 in patients with idiopathic pulmonary fibrosis.

PubMed ID: 35420632

DOI: 10.1084/jem.20211681

PubMed ID: 15558049

Title: Structure of human POT1 bound to telomeric single-stranded DNA provides a model for chromosome end-protection.

PubMed ID: 15558049

DOI: 10.1038/nsmb867

PubMed ID: 24686846

Title: Rare missense variants in POT1 predispose to familial cutaneous malignant melanoma.

PubMed ID: 24686846

DOI: 10.1038/ng.2941

PubMed ID: 30586141

Title: Association of the POT1 Germline Missense Variant p.I78T With Familial Melanoma.

PubMed ID: 30586141

DOI: 10.1001/jamadermatol.2018.3662

PubMed ID: 37140166

Title: Familial Clonal Hematopoiesis in a Long Telomere Syndrome.

PubMed ID: 37140166

DOI: 10.1056/nejmoa2300503

Sequence Information:

  • Length: 634
  • Mass: 71442
  • Checksum: 123A12CABE708C91
  • Sequence:
  • MSLVPATNYI YTPLNQLKGG TIVNVYGVVK FFKPPYLSKG TDYCSVVTIV DQTNVKLTCL 
    LFSGNYEALP IIYKNGDIVR FHRLKIQVYK KETQGITSSG FASLTFEGTL GAPIIPRTSS 
    KYFNFTTEDH KMVEALRVWA STHMSPSWTL LKLCDVQPMQ YFDLTCQLLG KAEVDGASFL 
    LKVWDGTRTP FPSWRVLIQD LVLEGDLSHI HRLQNLTIDI LVYDNHVHVA RSLKVGSFLR 
    IYSLHTKLQS MNSENQTMLS LEFHLHGGTS YGRGIRVLPE SNSDVDQLKK DLESANLTAN 
    QHSDVICQSE PDDSFPSSGS VSLYEVERCQ QLSATILTDH QYLERTPLCA ILKQKAPQQY 
    RIRAKLRSYK PRRLFQSVKL HCPKCHLLQE VPHEGDLDII FQDGATKTPD VKLQNTSLYD 
    SKIWTTKNQK GRKVAVHFVK NNGILPLSNE CLLLIEGGTL SEICKLSNKF NSVIPVRSGH 
    EDLELLDLSA PFLIQGTIHH YGCKQCSSLR SIQNLNSLVD KTSWIPSSVA EALGIVPLQY 
    VFVMTFTLDD GTGVLEAYLM DSDKFFQIPA SEVLMDDDLQ KSVDMIMDMF CPPGIKIDAY 
    PWLECFIKSY NVTNGTDNQI CYQIFDTTVA EDVI

Genular Protein ID: 3630853612

Symbol: A8MTK3_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 11181995

Title: The sequence of the human genome.

PubMed ID: 11181995

DOI: 10.1126/science.1058040

PubMed ID: 12853948

Title: The DNA sequence of human chromosome 7.

PubMed ID: 12853948

DOI: 10.1038/nature01782

Sequence Information:

  • Length: 503
  • Mass: 56817
  • Checksum: 2CF6B188449D8AE3
  • Sequence:
  • MVEALRVWAS THMSPSWTLL KLCDVQPMQY FDLTCQLLGK AEVDGASFLL KVWDGTRTPF 
    PSWRVLIQDL VLEGDLSHIH RLQNLTIDIL VYDNHVHVAR SLKVGSFLRI YSLHTKLQSM 
    NSENQTMLSL EFHLHGGTSY GRGIRVLPES NSDVDQLKKD LESANLTANQ HSDVICQSEP 
    DDSFPSSGSV SLYEVERCQQ LSATILTDHQ YLERTPLCAI LKQKAPQQYR IRAKLRSYKP 
    RRLFQSVKLH CPKCHLLQEV PHEGDLDIIF QDGATKTPDV KLQNTSLYDS KIWTTKNQKG 
    RKVAVHFVKN NGILPLSNEC LLLIEGGTLS EICKLSNKFN SVIPVRSGHE DLELLDLSAP 
    FLIQGTIHHY GCKQCSSLRS IQNLNSLVDK TSWIPSSVAE ALGIVPLQYV FVMTFTLDDG 
    TGVLEAYLMD SDKFFQIPAS EVLMDDDLQK SVDMIMDMFC PPGIKIDAYP WLECFIKSYN 
    VTNGTDNQIC YQIFDTTVAE DVI

Genular Protein ID: 3021899164

Symbol: Q5MJ33_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 12391173

Title: Human Pot1 (protection of telomeres) protein: cytolocalization, gene structure, and alternative splicing.

PubMed ID: 12391173

DOI: 10.1128/MCB.22.22.8079-8087.2002

PubMed ID: 12853948

Title: The DNA sequence of human chromosome 7.

PubMed ID: 12853948

DOI: 10.1038/nature01782

Sequence Information:

  • Length: 45
  • Mass: 4923
  • Checksum: 841205B2DC134228
  • Sequence:
  • MSLVPATNYI YTPLNQLKGG TIVNVYGVVK FFKPPYLSKG TDSSI

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.