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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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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

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