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Pot1b protection of telomeres 1B [ Mus musculus (house mouse) ]

Gene ID: 72836, updated on 21-Apr-2024

Summary

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Official Symbol
Pot1bprovided by MGI
Official Full Name
protection of telomeres 1Bprovided by MGI
Primary source
MGI:MGI:1920086
See related
Ensembl:ENSMUSG00000024174 AllianceGenome:MGI:1920086
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
2810458H16Rik
Summary
Enables single-stranded telomeric DNA binding activity and small GTPase binding activity. Acts upstream of or within several processes, including negative regulation of DNA recombination at telomere; protection from non-homologous end joining at telomere; and regulation of phagocytosis. Located in chromosome, telomeric region. Part of nuclear telomere cap complex. Is expressed in several structures, including genitourinary system; liver; lung; musculature; and spleen. 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
Broad expression in CNS E11.5 (RPKM 3.3), CNS E14 (RPKM 2.8) and 23 other tissues See more
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Genomic context

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Location:
17 D; 17 28.93 cM
Exon count:
18
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 17 NC_000083.7 (55958190..56019647, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 17 NC_000083.6 (55651190..55712647, complement)

Chromosome 17 - NC_000083.7Genomic Context describing neighboring genes Neighboring gene beta galactoside alpha 2,6 sialyltransferase 2 Neighboring gene vomeronasal 2, receptor 118 Neighboring gene predicted gene, 22654 Neighboring gene STARR-positive B cell enhancer ABC_E5620 Neighboring gene predicted gene, 54013 Neighboring gene coiled-coil domain containing 77 pseudogene Neighboring gene adhesion G protein-coupled receptor E4 Neighboring gene high mobility group box 1 pseudogene Neighboring gene STARR-seq mESC enhancer starr_42870 Neighboring gene vomeronasal 2, receptor 121 pseudogene

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. POT1b regulates phagocytosis and NO production by modulating activity of the small GTPase Rab5. Hagiwara M, et al. Biochem Biophys Res Commun, 2013 Sep 27. PMID 23954637
  2. Distinct functions of POT1 proteins contribute to the regulation of telomerase recruitment to telomeres. Gu P, et al. Nat Commun, 2021 Sep 17. PMID 34535663, Free PMC Article
  3. Dysfunctional telomeres induce p53-dependent and independent apoptosis to compromise cellular proliferation and inhibit tumor formation. Wang Y, et al. Aging Cell, 2016 Aug. PMID 27113195, Free PMC Article
  4. p16(INK4a) protects against dysfunctional telomere-induced ATR-dependent DNA damage responses. Wang Y, et al. J Clin Invest, 2013 Oct. PMID 24091330, Free PMC Article
  5. Engineered telomere degradation models dyskeratosis congenita. Hockemeyer D, et al. Genes Dev, 2008 Jul 1. PMID 18550783, Free PMC Article

See all (40) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Pot1b -/- tumors activate G-quadruplex-induced DNA damage to promote telomere hyper-elongation.
    Title: Pot1b -/- tumors activate G-quadruplex-induced DNA damage to promote telomere hyper-elongation.
  2. Distinct functions of POT1 proteins contribute to the regulation of telomerase recruitment to telomeres.
    Title: Distinct functions of POT1 proteins contribute to the regulation of telomerase recruitment to telomeres.
  3. 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.
  4. Tumorigenesis was inhibited in Pot1b(-/-);p53(+/+) mice due to cellular senescence. Pot1b(-/-);p53(-/-) tumors also exhibited senescence, but proliferated and metastasized with expansion of Lgr6(+) stem cells indicative of senescence-associated secretory phenotype.
    Title: Paracrine Interaction of Cancer Stem Cell Populations Is Regulated by the Senescence-Associated Secretory Phenotype (SASP).
  5. results establish that shelterin represses ATR with a tethered ssDNA-binding domain that excludes RPA from the 3' overhang and also reveal an unexpected effect of CST on the ability of POT1b to repress 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.
  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. Study documents the combinatorial action of Apollo, POT1b, CST, and the 5' exonuclease Exo1 in postreplicative telomere end processing in mouse cells, clarifying the mechanism by which the telomeric 3' overhang is generated and modulated.
    Title: Telomeric 3' overhangs derive from resection by Exo1 and Apollo and fill-in by POT1b-associated CST.
  8. Pot1b plays an essential role in hematopoietic stem cell survival.
    Title: Essential roles for Pot1b in HSC self-renewal and survival.
  9. TPP1 deletion resulted in the release of POT1a and POT1b from chromatin and loss of these proteins from telomeres, indicating that TPP1 is required for the telomere association of POT1a and POT1b but not for their stability.
    Title: Telomere protection by TPP1 is mediated by POT1a and POT1b.
  10. study reports POT1a & POT1b do not differ in their ability to repress telomere recombination; ability of POT1b to control 5'-end resection was found to require 2 regions in the C terminus
    Title: Functional dissection of human and mouse POT1 proteins.
Submit: New GeneRIF Correction See all GeneRIFs (15)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Transgenic (1) 
  • Targeted (4)  1 citation
  • Endonuclease-mediated (2) 

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 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 small GTPase binding IDA
Inferred from Direct Assay
more info
 PubMed 
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
  
Process Evidence Code Pubs
involved_in DNA duplex unwinding ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within cellular senescence IDA
Inferred from Direct Assay
more info
 PubMed 
acts_upstream_of_or_within cellular senescence IGI
Inferred from Genetic Interaction
more info
 PubMed 
acts_upstream_of_or_within chromosome organization IDA
Inferred from Direct Assay
more info
 PubMed 
acts_upstream_of_or_within chromosome organization IGI
Inferred from Genetic Interaction
more info
 PubMed 
acts_upstream_of_or_within chromosome organization IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in establishment of protein localization to telomere ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within negative regulation of DNA recombination at telomere IDA
Inferred from Direct Assay
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 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 via telomerase ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within protection from non-homologous end joining at telomere IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in regulation of DNA helicase activity ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within regulation of GTPase activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within regulation of cell growth IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in regulation of double-strand break repair via nonhomologous end joining ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within regulation of phagocytosis IMP
Inferred from Mutant Phenotype
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 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
  
acts_upstream_of_or_within telomere capping IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in telomere capping ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within telomere maintenance in response to DNA damage IDA
Inferred from Direct Assay
more info
 PubMed 
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, telomeric region IDA
Inferred from Direct Assay
more info
 PubMed 
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 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
  
part_of shelterin complex ISO
Inferred from Sequence Orthology
more info
  

General protein information

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Preferred Names
protection of telomeres 1B

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_001374805.1 → NP_001361734.1  protection of telomeres 1B isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC154443, AC182748
    Consensus CDS
    CCDS89119.1
    UniProtKB/TrEMBL
    Q3TNS5
    Related
    ENSMUSP00000156746.2, ENSMUST00000233972.2
    Conserved Domains (3) 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
    cd20374
    Location:349 → 605
    Pot1C; Protection Of Telomeres Protein 1 (POT1) C-terminal region

  2. NM_028370.2 → NP_082646.1  protection of telomeres 1B isoform 1

    See identical proteins and their annotated locations for NP_082646.1

    Status: VALIDATED

    Source sequence(s)
    AC154443, AC182748
    Consensus CDS
    CCDS50147.1
    UniProtKB/TrEMBL
    H7BX60
    Related
    ENSMUSP00000084089.6, ENSMUST00000086876.7
    Conserved Domains (3) summary
    smart00976
    Location:11 → 141
    Telo_bind; Telomeric single stranded DNA binding POT1/CDC13
    cd20374
    Location:349 → 635
    Pot1C; Protection Of Telomeres Protein 1 (POT1) C-terminal region
    pfam16686
    Location:153 → 299
    POT1PC; ssDNA-binding domain of telomere protection protein

RNA

  1. NR_151542.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC182748, AK045286, BY030313
    Related
    ENSMUST00000233802.2

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_000083.7 Reference GRCm39 C57BL/6J

    Range
    55958190..56019647 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006524979.3 → XP_006525042.1  protection of telomeres 1B isoform X2

    See identical proteins and their annotated locations for XP_006525042.1

    Conserved Domains (3) summary
    smart00976
    Location:11 → 86
    Telo_bind; Telomeric single stranded DNA binding POT1/CDC13
    pfam16686
    Location:84 → 202
    POT1PC; ssDNA-binding domain of telomere protection protein
    cd20374
    Location:252 → 538
    Pot1C; Protection Of Telomeres Protein 1 (POT1) C-terminal region

  2. XM_036160795.1 → XP_036016688.1  protection of telomeres 1B isoform X1

    UniProtKB/TrEMBL
    H7BX60
    Conserved Domains (3) summary
    smart00976
    Location:11 → 141
    Telo_bind; Telomeric single stranded DNA binding POT1/CDC13
    cd20374
    Location:349 → 635
    Pot1C; Protection Of Telomeres Protein 1 (POT1) C-terminal region
    pfam16686
    Location:153 → 299
    POT1PC; ssDNA-binding domain of telomere protection protein

  3. XM_011246646.3 → XP_011244948.1  protection of telomeres 1B isoform X1

    See identical proteins and their annotated locations for XP_011244948.1

    UniProtKB/TrEMBL
    H7BX60
    Conserved Domains (3) summary
    smart00976
    Location:11 → 141
    Telo_bind; Telomeric single stranded DNA binding POT1/CDC13
    cd20374
    Location:349 → 635
    Pot1C; Protection Of Telomeres Protein 1 (POT1) C-terminal region
    pfam16686
    Location:153 → 299
    POT1PC; ssDNA-binding domain of telomere protection protein

  4. XM_036160794.1 → XP_036016687.1  protection of telomeres 1B isoform X1

    UniProtKB/TrEMBL
    H7BX60
    Conserved Domains (3) summary
    smart00976
    Location:11 → 141
    Telo_bind; Telomeric single stranded DNA binding POT1/CDC13
    cd20374
    Location:349 → 635
    Pot1C; Protection Of Telomeres Protein 1 (POT1) C-terminal region
    pfam16686
    Location:153 → 299
    POT1PC; ssDNA-binding domain of telomere protection protein

  5. XM_011246645.3 → XP_011244947.1  protection of telomeres 1B isoform X1

    See identical proteins and their annotated locations for XP_011244947.1

    UniProtKB/TrEMBL
    H7BX60
    Conserved Domains (3) summary
    smart00976
    Location:11 → 141
    Telo_bind; Telomeric single stranded DNA binding POT1/CDC13
    cd20374
    Location:349 → 635
    Pot1C; Protection Of Telomeres Protein 1 (POT1) C-terminal region
    pfam16686
    Location:153 → 299
    POT1PC; ssDNA-binding domain of telomere protection protein

  6. XM_030250064.2 → XP_030105924.1  protection of telomeres 1B isoform X2

    Conserved Domains (3) summary
    smart00976
    Location:11 → 86
    Telo_bind; Telomeric single stranded DNA binding POT1/CDC13
    pfam16686
    Location:84 → 202
    POT1PC; ssDNA-binding domain of telomere protection protein
    cd20374
    Location:252 → 538
    Pot1C; Protection Of Telomeres Protein 1 (POT1) C-terminal region

  7. XM_006524978.3 → XP_006525041.1  protection of telomeres 1B isoform X1

    See identical proteins and their annotated locations for XP_006525041.1

    UniProtKB/TrEMBL
    H7BX60
    Conserved Domains (3) summary
    smart00976
    Location:11 → 141
    Telo_bind; Telomeric single stranded DNA binding POT1/CDC13
    cd20374
    Location:349 → 635
    Pot1C; Protection Of Telomeres Protein 1 (POT1) C-terminal region
    pfam16686
    Location:153 → 299
    POT1PC; ssDNA-binding domain of telomere protection protein

  8. XM_006524980.2 → XP_006525043.1  protection of telomeres 1B isoform X3

    See identical proteins and their annotated locations for XP_006525043.1

    Conserved Domains (3) 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
    cd20374
    Location:349 → 503
    Pot1C; Protection Of Telomeres Protein 1 (POT1) C-terminal region

RNA

  1. XR_003952192.2 RNA Sequence

  2. XR_004939585.1 RNA Sequence

  3. XR_004939586.1 RNA Sequence

  4. XR_003952193.1 RNA Sequence

  5. XR_876552.2 RNA Sequence

Nucleotide Protein Strain
Heading Accession and Version

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