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    Pot1 protection of telomeres 1 [ Rattus norvegicus (Norway rat) ]

    Gene ID: 500054, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Pot1provided by RGD
    Official Full Name
    protection of telomeres 1provided by RGD
    Primary source
    RGD:1562696
    See related
    EnsemblRapid:ENSRNOG00000019986 AllianceGenome:RGD:1562696
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Rattus norvegicus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
    Also known as
    Pot1a
    Summary
    Predicted to enable DEAD/H-box RNA helicase binding activity; DNA binding activity; and telomerase inhibitor activity. Predicted to be involved in several processes, including chromosome organization; establishment of protein localization to telomere; and regulation of DNA metabolic process. Predicted to act upstream of or within chromosome organization. Predicted to be located in chromosome, telomeric region and nucleoplasm. Predicted to be part of shelterin complex. Human ortholog(s) of this gene implicated in colorectal cancer; familial melanoma; hepatocellular carcinoma; lung cancer; and ovarian cancer. Orthologous to human POT1 (protection of telomeres 1). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in Thymus (RPKM 109.1), Spleen (RPKM 80.3) and 9 other tissues See more
    Orthologs
    human mouse all
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    Genomic context

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    See Pot1 in Genome Data Viewer
    Location:
    4q22
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) 4 NC_086022.1 (55170821..55228588, complement)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 4 NC_051339.1 (54205330..54263137, complement)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) 4 NC_005103.4 (51888632..51946764, complement)

    Chromosome 4 - NC_086022.1Genomic Context describing neighboring genes Neighboring gene SUV39H2 histone lysine methyltransferase, pseudogene 1 Neighboring gene G protein-coupled receptor 37 Neighboring gene U7 small nuclear RNA Neighboring gene U7 small nuclear RNA Neighboring gene uncharacterized LOC120102246 Neighboring gene uncharacterized LOC108350678 Neighboring gene RNA, U6 small nuclear 321

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
    • Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
    • BioProject: PRJNA238328
    • Publication: PMID 24510058
    • Analysis date: Mon Jun 6 17:44:12 2016

    Bibliography

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    Related articles in PubMed

    1. Large-scale genome-wide association study in a Japanese population identifies novel susceptibility loci across different diseases. Ishigaki K, et al. Nat Genet, 2020 Jul. PMID 32514122, Free PMC Article
    2. Telomere Maintenance Variants and Survival after Colorectal Cancer: Smoking- and Sex-Specific Associations. Yin H, et al. Cancer Epidemiol Biomarkers Prev, 2020 Sep. PMID 32586834, Free PMC Article
    3. Telomere structure and maintenance gene variants and risk of five cancer types. Karami S, et al. Int J Cancer, 2016 Dec 15. PMID 27459707, Free PMC Article
    4. POT1 inhibits the efficiency but promotes the fidelity of nonhomologous end joining at non-telomeric DNA regions. Yu Y, et al. Aging (Albany NY), 2017 Dec 8. PMID 29227966, Free PMC Article
    5. Human POT1 facilitates telomere elongation by telomerase. Colgin LM, et al. Curr Biol, 2003 May 27. PMID 12781132

    See all (35) citations in PubMed

    GeneRIFs: Gene References Into Functions

    General gene information

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    Homology

    Gene Ontology Provided by RGD

    Function Evidence Code Pubs
    enables 8-hydroxy-2'-deoxyguanosine DNA binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables DEAD/H-box RNA helicase binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables G-rich single-stranded DNA binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables G-rich strand telomeric DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables G-rich strand telomeric DNA binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables single-stranded telomeric DNA binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables telomerase inhibitor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables telomerase inhibitor activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables telomeric D-loop binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables telomeric DNA binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    NOT enables telomeric G-quadruplex DNA binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in DNA duplex unwinding ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    acts_upstream_of_or_within chromosome organization ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in establishment of protein localization to telomere ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in negative regulation of telomere maintenance via telomerase ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in positive regulation of DNA strand elongation ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in positive regulation of telomere maintenance via telomerase ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in regulation of double-strand break repair via nonhomologous end joining ISO
    Inferred from Sequence Orthology
    more info
    		  
    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 ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in telomere assembly ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in telomere capping IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in telomere capping ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in telomere maintenance via telomerase ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in telomeric D-loop disassembly ISO
    Inferred from Sequence Orthology
    more info
    		  
    NOT involved_in telomeric loop formation ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    located_in chromosome, telomeric region ISO
    Inferred from Sequence Orthology
    more info
    		  
    part_of nuclear telomere cap complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of nuclear telomere cap complex ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    part_of shelterin complex ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    protection of telomeres protein 1
    Names
    protection of telomeres 1 homolog
    protection of telomeres 1A

    NCBI Reference Sequences (RefSeq)

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    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.

    mRNA and Protein(s)

    1. NM_001395151.1 → NP_001382080.1  protection of telomeres protein 1

      Status: VALIDATED

      Source sequence(s)
      JAXUCZ010000004
      UniProtKB/TrEMBL
      A0A0G2JX31, A0A0G2JY35, A6IE97
      Conserved Domains (3) summary
      smart00976
      Location:11 → 141
      Telo_bind; Telomeric single stranded DNA binding POT1/CDC13
      cd20374
      Location:348 → 634
      Pot1C; Protection Of Telomeres Protein 1 (POT1) C-terminal region
      pfam16686
      Location:153 → 294
      POT1PC; ssDNA-binding domain of telomere protection protein

    2. NM_001395152.1 → NP_001382081.1  protection of telomeres protein 1

      Status: VALIDATED

      Source sequence(s)
      JAXUCZ010000004
      UniProtKB/TrEMBL
      A0A0G2JX31, A0A0G2JY35, A6IE97
      Related
      ENSRNOP00000070115.1, ENSRNOT00000079130.3
      Conserved Domains (3) summary
      smart00976
      Location:11 → 141
      Telo_bind; Telomeric single stranded DNA binding POT1/CDC13
      cd20374
      Location:348 → 634
      Pot1C; Protection Of Telomeres Protein 1 (POT1) C-terminal region
      pfam16686
      Location:153 → 294
      POT1PC; ssDNA-binding domain of telomere protection protein

    RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

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

    Reference GRCr8

    Genomic

    1. NC_086022.1 Reference GRCr8

      Range
      55170821..55228588 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_063286481.1 → XP_063142551.1  protection of telomeres protein 1 isoform X1

      UniProtKB/TrEMBL
      A0A0G2JX31, A0A0G2JY35, A6IE97

    2. XM_008762811.3 → XP_008761033.1  protection of telomeres protein 1 isoform X2

      UniProtKB/TrEMBL
      A0A0G2JY35
      Conserved Domains (2) summary
      smart00976
      Location:1 → 82
      Telo_bind; Telomeric single stranded DNA binding POT1/CDC13
      cd04498
      Location:102 → 220
      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_010065690.1 RNA Sequence

    2. XR_010065689.1 RNA Sequence

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001024322.2: Suppressed sequence

      Description
      NM_001024322.2: This RefSeq was removed because it is a nonsense-mediated mRNA decay (NMD) candidate.
    Nucleotide Protein Strain
    Heading Accession and Version

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