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

Gene ID: 500054, updated on 13-Apr-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
Ensembl: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 establishment of protein localization to telomere; regulation of DNA metabolic process; and telomere organization. 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 familial melanoma and high grade glioma. Orthologous to human POT1 (protection of telomeres 1). [provided by Alliance of Genome Resources, Apr 2022]
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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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. 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
  2. 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
  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. Telomere 1 (POT1) gene expression and its association with telomerase activity in colorectal tumor samples with different pathological features. Izgi A, et al. Biomed Pharmacother, 2014 Sep. PMID 25194444

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 telomerase activity IBA
Inferred from Biological aspect of Ancestor
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
    Related
    ENSRNOP00000070115.1, ENSRNOT00000079130.2
    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
    ENSRNOP00000057203.2, ENSRNOT00000060459.4
    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, 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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