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    POT1 protection of telomeres 1 [ Homo sapiens (human) ]

    Gene ID: 25913, updated on 5-Nov-2017
    Official Symbol
    POT1provided by HGNC
    Official Full Name
    protection of telomeres 1provided by HGNC
    Primary source
    HGNC:HGNC:17284
    See related
    Ensembl:ENSG00000128513 MIM:606478; Vega:OTTHUMG00000157194
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    GLM9; CMM10; HPOT1
    Summary
    This gene is a member of the telombin family and encodes a nuclear protein involved in telomere maintenance. Specifically, this protein functions as a member of a multi-protein complex that binds to the TTAGGG repeats of telomeres, regulating telomere length and protecting chromosome ends from illegitimate recombination, catastrophic chromosome instability, and abnormal chromosome segregation. Increased transcriptional expression of this gene is associated with stomach carcinogenesis and its progression. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2008]
    Orthologs
    Location:
    7q31.33
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 7 NC_000007.14 (124822386..124929983, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (124462440..124570037, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene G protein-coupled receptor 37 Neighboring gene chromosome 7 open reading frame 77 Neighboring gene POT1 antisense RNA 1 Neighboring gene eukaryotic translation elongation factor 1 gamma pseudogene 1 Neighboring gene uncharacterized LOC105375486

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Glioma susceptibility 9
    MedGen: C4225278 OMIM: 616568 GeneReviews: Not available
    Compare labs
    Melanoma, cutaneous malignant, susceptibility to, 10
    MedGen: C4014476 OMIM: 615848 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    A genome-wide association study identifies multiple susceptibility loci for chronic lymphocytic leukemia.
    NHGRI GWA Catalog
    • Cell Cycle, organism-specific biosystem (from REACTOME)
      Cell Cycle, organism-specific biosystem
      Cell Cycle
    • Cellular Senescence, organism-specific biosystem (from REACTOME)
      Cellular Senescence, organism-specific biosystemCellular senescence involves irreversible growth arrest accompanied by phenotypic changes such as enlarged morphology, reorganization of chromatin through formation of senescence-associated heterochr...
    • Cellular responses to stress, organism-specific biosystem (from REACTOME)
      Cellular responses to stress, organism-specific biosystemCells are subject to external molecular and physical stresses such as foreign molecules that perturb metabolic or signaling processes, and changes in temperature or pH. The ability of cells and tissu...
    • Chromosome Maintenance, organism-specific biosystem (from REACTOME)
      Chromosome Maintenance, organism-specific biosystemChromosome maintenance is critical for stable chromosome function in mammalian and other eukaryotic cells. Aspects of telomere maintenance and nucleosome assembly are covered here.
    • DNA Damage/Telomere Stress Induced Senescence, organism-specific biosystem (from REACTOME)
      DNA Damage/Telomere Stress Induced Senescence, organism-specific biosystemReactive oxygen species (ROS), whose concentration increases in senescent cells due to oncogenic RAS-induced mitochondrial dysfunction (Moiseeva et al. 2009) or due to environmental stress, cause DNA...
    • Meiosis, organism-specific biosystem (from REACTOME)
      Meiosis, organism-specific biosystemDuring meiosis the replicated chromosomes of a single diploid cell are segregated into 4 haploid daughter cells by two successive divisions, meiosis I and meiosis II. In meiosis I, the distinguishing...
    • Meiotic synapsis, organism-specific biosystem (from REACTOME)
      Meiotic synapsis, organism-specific biosystemMeiotic synapsis is the stable physical pairing of homologous chromosomes that begins in leptonema of prophase I and lasts until anaphase of prophase I. First, short segments of axial elements form a...
    • Packaging Of Telomere Ends, organism-specific biosystem (from REACTOME)
      Packaging Of Telomere Ends, organism-specific biosystemMultiple steps, including C-strand resection, telomerase-mediated elongation, and C-strand synthesis are involved in processing and maintaining the telomere. Though this module posits a linear trans...
    • Regulation of Telomerase, organism-specific biosystem (from Pathway Interaction Database)
      Regulation of Telomerase, organism-specific biosystem
      Regulation of Telomerase
    • Shelterin complex, organism-specific biosystem (from KEGG)
      Shelterin complex, organism-specific biosystemStructural complex; Genetic information processing; Replication system
    • Shelterin complex, conserved biosystem (from KEGG)
      Shelterin complex, conserved biosystemStructural complex; Genetic information processing; Replication system
    • Telomere Maintenance, organism-specific biosystem (from REACTOME)
      Telomere Maintenance, organism-specific biosystemTelomeres are protein-DNA complexes at the ends of linear chromosomes that are important for genome stability. Telomeric DNA in humans, as in many eukaryotic organisms, consists of tandem repeats (B...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • DKFZp586D211

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    8-hydroxy-2'-deoxyguanosine DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    DEAD/H-box RNA helicase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    G-rich single-stranded DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    G-rich strand telomeric DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    single-stranded telomeric DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    single-stranded telomeric DNA binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    telomerase inhibitor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    telomeric D-loop binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    telomeric DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    NOT telomeric G-quadruplex DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    DNA duplex unwinding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    establishment of protein localization to telomere IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of telomerase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of telomere maintenance via telomerase IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    negative regulation of telomere maintenance via telomerase TAS
    Traceable Author Statement
    more info
    PubMed 
    positive regulation of DNA helicase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of DNA strand elongation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of helicase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of telomerase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of telomerase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of telomere maintenance via telomerase IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of telomere maintenance via telomerase IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of DNA helicase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of telomere maintenance via telomerase IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    telomere assembly IDA
    Inferred from Direct Assay
    more info
    PubMed 
    telomere capping IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    telomere capping IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    telomere capping TAS
    Traceable Author Statement
    more info
    PubMed 
    telomere maintenance via telomerase IDA
    Inferred from Direct Assay
    more info
    PubMed 
    telomeric D-loop disassembly IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    chromosome, telomeric region IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nuclear chromosome, telomeric region IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nuclear telomere cap complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
     
    shelterin complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    shelterin complex IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    shelterin complex TAS
    Traceable Author Statement
    more info
    PubMed 
    Preferred Names
    protection of telomeres protein 1
    Names
    POT1-like telomere end-binding protein
    protection of telomeres 1 homolog

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_029232.1 RefSeqGene

      Range
      5001..112598
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001042594.1NP_001036059.1  protection of telomeres protein 1 isoform 4

      See identical proteins and their annotated locations for NP_001036059.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks an alternate in-frame exon in the 5' coding region and uses a downstream start codon, compared to variant 1. The encoded isoform (5, also known as POT1-55) has a shorter N-terminus, compared to isoform 1. There are currently no publicly available full-length transcripts representing this variant, but it is supported by data in PMIDs 12391173 and 15973431.
      Source sequence(s)
      AK022580, AL050120, AY823523, BM693856, DA412639, DA707481
      UniProtKB/Swiss-Prot
      Q9NUX5
      UniProtKB/TrEMBL
      A8MTK3, Q5MJ33
      Related
      ENSP00000377002.1, ENST00000393329.5
      Conserved Domains (1) summary
      cd04498
      Location:30147
      hPOT1_OB2; hPOT1_OB2: A subfamily of OB folds similar to the second OB fold (OB2) of human protection of telomeres 1 protein (hPOT1). POT1 proteins bind to the single-stranded (ss) 3-prime ends of the telomere. hPOT1 binds specifically to ss telomeric DNA repeats ...
    2. NM_015450.2NP_056265.2  protection of telomeres protein 1 isoform 1

      See identical proteins and their annotated locations for NP_056265.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AK022580, AL050120, BM693856, DA412639, DA580630
      Consensus CDS
      CCDS5793.1
      UniProtKB/Swiss-Prot
      Q9NUX5
      UniProtKB/TrEMBL
      A0A024R739
      Related
      ENSP00000350249.3, OTTHUMP00000211675, ENST00000357628.7, OTTHUMT00000347861
      Conserved Domains (2) summary
      smart00976
      Location:11141
      Telo_bind; Telomeric single stranded DNA binding POT1/CDC13
      cd04498
      Location:161278
      hPOT1_OB2; hPOT1_OB2: A subfamily of OB folds similar to the second OB fold (OB2) of human protection of telomeres 1 protein (hPOT1). POT1 proteins bind to the single-stranded (ss) 3-prime ends of the telomere. hPOT1 binds specifically to ss telomeric DNA repeats ...

    RNA

    1. NR_003102.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) has an alternate exon in the coding region that results in a frameshift and early stop codon, compared to variant 1. A CDS is not annotated because the transcript is a nonsense-mediated mRNA decay (NMD) candidate.
      Source sequence(s)
      AK022580, AL050120, AY823521, BM693856, DA412639, DA707481
    2. NR_003103.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an alternate exon in the coding region that results in a frameshift and early stop codon, compared to variant 1. A CDS is not annotated because the transcript is a nonsense-mediated mRNA decay (NMD) candidate.
      Source sequence(s)
      AK022580, AL050120, AY823522, BM693856, DA412639, DA707481
    3. NR_003104.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) has an alternate exon in the coding region that results in a frameshift and early stop codon, compared to variant 1. A CDS is not annotated because the transcript is a nonsense-mediated mRNA decay (NMD) candidate.
      Source sequence(s)
      AC004925, AK022580, AL050120, AY823524, BC002923, BM693856, DA412639, DA707481

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p7 Primary Assembly

      Range
      124822386..124929983 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011516007.1XP_011514309.1  protection of telomeres protein 1 isoform X3

      See identical proteins and their annotated locations for XP_011514309.1

      UniProtKB/TrEMBL
      A8MTK3
      Conserved Domains (1) summary
      cd04498
      Location:30147
      hPOT1_OB2; hPOT1_OB2: A subfamily of OB folds similar to the second OB fold (OB2) of human protection of telomeres 1 protein (hPOT1). POT1 proteins bind to the single-stranded (ss) 3-prime ends of the telomere. hPOT1 binds specifically to ss telomeric DNA repeats ...
    2. XM_011516006.1XP_011514308.1  protection of telomeres protein 1 isoform X3

      See identical proteins and their annotated locations for XP_011514308.1

      UniProtKB/TrEMBL
      A8MTK3
      Conserved Domains (1) summary
      cd04498
      Location:30147
      hPOT1_OB2; hPOT1_OB2: A subfamily of OB folds similar to the second OB fold (OB2) of human protection of telomeres 1 protein (hPOT1). POT1 proteins bind to the single-stranded (ss) 3-prime ends of the telomere. hPOT1 binds specifically to ss telomeric DNA repeats ...
    3. XM_017011942.1XP_016867431.1  protection of telomeres protein 1 isoform X3

      UniProtKB/TrEMBL
      A8MTK3
      Conserved Domains (1) summary
      cd04498
      Location:30147
      hPOT1_OB2; hPOT1_OB2: A subfamily of OB folds similar to the second OB fold (OB2) of human protection of telomeres 1 protein (hPOT1). POT1 proteins bind to the single-stranded (ss) 3-prime ends of the telomere. hPOT1 binds specifically to ss telomeric DNA repeats ...
    4. XM_006715917.3XP_006715980.1  protection of telomeres protein 1 isoform X1

      See identical proteins and their annotated locations for XP_006715980.1

      UniProtKB/Swiss-Prot
      Q9NUX5
      UniProtKB/TrEMBL
      A0A024R739
      Conserved Domains (2) summary
      smart00976
      Location:11141
      Telo_bind; Telomeric single stranded DNA binding POT1/CDC13
      cd04498
      Location:161278
      hPOT1_OB2; hPOT1_OB2: A subfamily of OB folds similar to the second OB fold (OB2) of human protection of telomeres 1 protein (hPOT1). POT1 proteins bind to the single-stranded (ss) 3-prime ends of the telomere. hPOT1 binds specifically to ss telomeric DNA repeats ...
    5. XM_017011941.1XP_016867430.1  protection of telomeres protein 1 isoform X2

      UniProtKB/TrEMBL
      Q5MJ34
      Related
      ENSP00000476506.1, OTTHUMP00000273820, ENST00000607932.5, OTTHUMT00000471457
      Conserved Domains (2) summary
      smart00976
      Location:11141
      Telo_bind; Telomeric single stranded DNA binding POT1/CDC13
      cd04498
      Location:161278
      hPOT1_OB2; hPOT1_OB2: A subfamily of OB folds similar to the second OB fold (OB2) of human protection of telomeres 1 protein (hPOT1). POT1 proteins bind to the single-stranded (ss) 3-prime ends of the telomere. hPOT1 binds specifically to ss telomeric DNA repeats ...

    RNA

    1. XR_001744619.1 RNA Sequence

    2. XR_001744618.1 RNA Sequence

    Alternate CHM1_1.1

    Genomic

    1. NC_018918.2 Alternate CHM1_1.1

      Range
      124395753..124503350 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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