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

    Gene ID: 25913, updated on 17-Feb-2024

    Summary

    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; AllianceGenome:HGNC:17284
    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; TPDS3; CRMCC3; PFBMFT8
    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]
    Expression
    Ubiquitous expression in testis (RPKM 8.1), thyroid (RPKM 7.2) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See POT1 in Genome Data Viewer
    Location:
    7q31.33
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (124822386..124929825, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (126139780..126247229, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (124462440..124569879, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 7:124397814 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18589 Neighboring gene G protein-coupled receptor 37 Neighboring gene Sharpr-MPRA regulatory region 5263 Neighboring gene long intergenic non-protein coding RNA 3043 Neighboring gene Sharpr-MPRA regulatory region 10744 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 7:124449868 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:124472442-124472991 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:124533191-124533332 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 7:124542275 Neighboring gene Sharpr-MPRA regulatory region 5954 Neighboring gene POT1 antisense RNA 1 Neighboring gene eukaryotic translation elongation factor 1 gamma pseudogene 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:124774965-124775464 Neighboring gene long intergenic non-protein coding RNA 2830

    Genomic regions, transcripts, and products

    Expression

    • 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Cerebroretinal microangiopathy with calcifications and cysts 3
    MedGen: C5830497 OMIM: 620368 GeneReviews: Not available
    not available
    Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8
    MedGen: C5830496 OMIM: 620367 GeneReviews: Not available
    not available
    Tumor predisposition syndrome 3
    MedGen: C4014476 OMIM: 615848 GeneReviews: POT1 Tumor Predisposition
    Compare labs

    EBI GWAS Catalog

    Description
    A genome-wide association study identifies multiple susceptibility loci for chronic lymphocytic leukemia.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • DKFZp586D211

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in DNA duplex unwinding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in establishment of protein localization to telomere IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of telomerase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in negative regulation of telomerase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of telomere maintenance via telomerase IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in negative regulation of telomere maintenance via telomerase TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in positive regulation of DNA helicase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of DNA strand elongation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of helicase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of telomerase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of telomerase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of telomere maintenance NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in positive regulation of telomere maintenance via telomerase IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of telomere maintenance via telomerase IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of DNA helicase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of double-strand break repair via nonhomologous end joining IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of telomere maintenance via telomerase IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of telomere maintenance via telomerase IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in telomere assembly IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in telomere capping IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in telomere capping IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in telomere capping IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in telomere capping IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in telomere capping TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in telomere maintenance via telomerase IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in telomere maintenance via telomerase IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in telomeric D-loop disassembly IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in chromosome, telomeric region HDA PubMed 
    located_in chromosome, telomeric region IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of nuclear telomere cap complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of nuclear telomere cap complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    part_of shelterin complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of shelterin complex IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    part_of shelterin complex IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    part_of shelterin complex TAS
    Traceable Author Statement
    more info
    PubMed 

    General protein information

    Preferred Names
    protection of telomeres protein 1
    Names
    POT1-like telomere end-binding protein
    protection of telomeres 1 homolog

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      5159..112598
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001042594.2NP_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, DA707481
      UniProtKB/TrEMBL
      A8MTK3
      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_015450.3NP_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, DA580630
      Consensus CDS
      CCDS5793.1
      UniProtKB/Swiss-Prot
      O95018, Q5MJ36, Q9H662, Q9NUX5, Q9NW19, Q9UG95
      UniProtKB/TrEMBL
      A0A590UJF7
      Related
      ENSP00000350249.3, ENST00000357628.8
      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_003102.2 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, DA707481
    2. NR_003103.2 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, DA707481
    3. NR_003104.2 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, DA707481

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      124822386..124929825 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      126139780..126247229 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)