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    Pot1a protection of telomeres 1A [ Mus musculus (house mouse) ]

    Gene ID: 101185, updated on 5-Mar-2024

    Summary

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    Official Symbol
    Pot1aprovided by MGI
    Official Full Name
    protection of telomeres 1Aprovided by MGI
    Primary source
    MGI:MGI:2141503
    See related
    Ensembl:ENSMUSG00000029676 AllianceGenome:MGI:2141503
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Pot1; 1500031H18Rik
    Summary
    Enables single-stranded telomeric DNA binding activity. Acts upstream of or within chromosome organization. Located in chromosome, telomeric region. Part of nuclear telomere cap complex. Is expressed in several structures, including basisphenoid bone; brain; genitourinary system; musculature; and otic capsule. Human ortholog(s) of this gene implicated in familial melanoma and high grade glioma. Orthologous to human POT1 (protection of telomeres 1). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in liver E14 (RPKM 7.1), liver E14.5 (RPKM 6.6) and 25 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Pot1a in Genome Data Viewer
    Location:
    6 A3.1; 6 11.65 cM
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 6 NC_000072.7 (25743939..25809280, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 6 NC_000072.6 (25743940..25809277, complement)

    Chromosome 6 - NC_000072.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 22529 Neighboring gene STARR-seq mESC enhancer starr_15371 Neighboring gene STARR-seq mESC enhancer starr_15372 Neighboring gene STARR-seq mESC enhancer starr_15373 Neighboring gene STARR-seq mESC enhancer starr_15374 Neighboring gene STARR-seq mESC enhancer starr_15375 Neighboring gene STARR-seq mESC enhancer starr_15376 Neighboring gene G protein-coupled receptor 37 Neighboring gene STARR-seq mESC enhancer starr_15377 Neighboring gene STARR-seq mESC enhancer starr_15378 Neighboring gene STARR-seq mESC enhancer starr_15380 Neighboring gene STARR-seq mESC enhancer starr_15381 Neighboring gene predicted gene, 20756 Neighboring gene STARR-seq mESC enhancer starr_15382 Neighboring gene PCNA-associated factor pseudogene Neighboring gene STARR-seq mESC enhancer starr_15383 Neighboring gene STARR-seq mESC enhancer starr_15384 Neighboring gene predicted gene, 24691

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. The telomere binding protein Pot1 maintains haematopoietic stem cell activity with age. Hosokawa K, et al. Nat Commun, 2017 Oct 6. PMID 28986560, Free PMC Article
    2. Interaction between tetraplex structure of mouse telomeric DNA and telomeric DNA binding domains of mouse telomere binding protein Pot1. Kaneda K, et al. Nucleic Acids Symp Ser (Oxf), 2009. PMID 19749352
    3. Unfolding of tetraplex structure of mouse telomeric DNA by the interaction with mouse telomeric DNA binding protein Pot1. Torigoe H, et al. Nucleic Acids Symp Ser (Oxf), 2007. PMID 18029680
    4. The Replisome Mediates A-NHEJ Repair of Telomeres Lacking POT1-TPP1 Independently of MRN Function. Rai R, et al. Cell Rep, 2019 Dec 10. PMID 31825846, Free PMC Article
    5. Pot1 OB-fold mutations unleash telomere instability to initiate tumorigenesis. Gu P, et al. Oncogene, 2017 Apr 6. PMID 27869160, Free PMC Article

    See all (56) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. POT1a deficiency in mesenchymal niches perturbs B-lymphopoiesis.
      Title: POT1a deficiency in mesenchymal niches perturbs B-lymphopoiesis.
    2. The intrinsically disordered N-terminal region of mouse DNA polymerase alpha mediates its interaction with POT1a/b at telomeres.
      Title: The intrinsically disordered N-terminal region of mouse DNA polymerase alpha mediates its interaction with POT1a/b at telomeres.
    3. nearly identical POT1b subunit of shelterin has been shown to be much less proficient than POT1a in repression of ATR
      Title: Protection of telomeres 1 proteins POT1a and POT1b can repress ATR signaling by RPA exclusion, but binding to CST limits ATR repression by POT1b.
    4. The telomere binding protein POT1a inhibits the production of reactive oxygen species, and rejuvenates aged hematopoietic stem cells.
      Title: The telomere binding protein Pot1 maintains haematopoietic stem cell activity with age.
    5. proliferation of cancer cells lacking POT1 is enabled by the attenuation of the ATR kinase pathway.
      Title: Telomere Replication Stress Induced by POT1 Inactivation Accelerates Tumorigenesis.
    6. demonstrated that cells expressing TIN2DeltaTPP1 instead of wild-type TIN2 phenocopy the POT1a,b knockout setting without showing additional phenotypes
      Title: Binding of TPP1 protein to TIN2 protein is required for POT1a,b protein-mediated telomere protection.
    7. The results of this study found telomere uncapping by Pot1a inactivation resulted in an Atm-dependent loss of cerebellar interneurons and granule neuron precursors in the mouse nervous system. The
      Title: Pot1a prevents telomere dysfunction and ATM-dependent neuronal loss.
    8. shelterin protein TIN2 can protect chromosome ends as a TRF2-tethered TIN2/TPP1/POT1 complex that lacks a physical connection to TRF1
      Title: TRF2-tethered TIN2 can mediate telomere protection by TPP1/POT1.
    9. Simultaneous inactivation of Pot1a and p53 resulted in endometrial intraepithelial carcinoma-like lesions in transgenic mice.
      Title: Cooperation between p53 and the telomere-protecting shelterin component Pot1a in endometrial carcinogenesis.
    10. Telomere protection by TPP1/POT1 requires tethering to TIN2.
      Title: Telomere protection by TPP1/POT1 requires tethering to TIN2.
    Submit: New GeneRIF Correction See all GeneRIFs (23)

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    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 DNA binding IEA
    Inferred from Electronic Annotation
    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 protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables single-stranded telomeric DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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 IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables telomeric DNA binding ISO
    Inferred from Sequence Orthology
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in DNA duplex unwinding ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within chromosome organization IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in establishment of protein localization to telomere ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in negative regulation of telomerase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of telomerase activity 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 helicase activity 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 helicase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in positive regulation of telomerase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in positive regulation of telomere maintenance NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in positive regulation of telomere maintenance via telomerase ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in regulation of DNA helicase activity 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 IEA
    Inferred from Electronic Annotation
    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 IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    NOT involved_in telomeric loop formation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in chromosome IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in chromosome, telomeric region IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in chromosome, telomeric region ISO
    Inferred from Sequence Orthology
    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 
    part_of nuclear telomere cap complex ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    located_in nucleus IEA
    Inferred from Electronic Annotation
    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
    POT1-like telomere end-binding protein

    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_133931.5 → NP_598692.1  protection of telomeres protein 1

      See identical proteins and their annotated locations for NP_598692.1

      Status: VALIDATED

      Source sequence(s)
      AC153888, AC158683
      Consensus CDS
      CCDS39442.1
      UniProtKB/Swiss-Prot
      Q8BUH9, Q91WC1
      UniProtKB/TrEMBL
      Q3UVD7
      Related
      ENSMUSP00000110986.2, ENSMUST00000115330.8
      Conserved Domains (2) summary
      smart00976
      Location:11 → 141
      Telo_bind; Telomeric single stranded DNA binding POT1/CDC13
      pfam16686
      Location:153 → 299
      POT1PC; ssDNA-binding domain of telomere protection protein

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000072.7 Reference GRCm39 C57BL/6J

      Range
      25743939..25809280 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006504956.3 → XP_006505019.1  protection of telomeres protein 1 isoform X1

      See identical proteins and their annotated locations for XP_006505019.1

      UniProtKB/TrEMBL
      Q3UVD7
      Conserved Domains (3) summary
      smart00976
      Location:1 → 82
      Telo_bind; Telomeric single stranded DNA binding POT1/CDC13
      pfam16686
      Location:94 → 236
      POT1PC; ssDNA-binding domain of telomere protection protein
      cd20374
      Location:290 → 576
      Pot1C; Protection Of Telomeres Protein 1 (POT1) C-terminal region

    2. XM_006504955.3 → XP_006505018.1  protection of telomeres protein 1 isoform X1

      See identical proteins and their annotated locations for XP_006505018.1

      UniProtKB/TrEMBL
      Q3UVD7
      Conserved Domains (3) summary
      smart00976
      Location:1 → 82
      Telo_bind; Telomeric single stranded DNA binding POT1/CDC13
      pfam16686
      Location:94 → 236
      POT1PC; ssDNA-binding domain of telomere protection protein
      cd20374
      Location:290 → 576
      Pot1C; Protection Of Telomeres Protein 1 (POT1) C-terminal region

    RNA

    1. XR_377283.4 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q91WC1.1 GenPept UniProtKB/Swiss-Prot:Q91WC1

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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