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

Summary

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 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, Nov 2024]
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

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_000072.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

POT1a deficiency in mesenchymal niches perturbs B-lymphopoiesis.
Title: POT1a deficiency in mesenchymal niches perturbs B-lymphopoiesis.
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.
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.
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.
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.
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.
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.
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.
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.
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)

Endonuclease-mediated (1)
Gene trapped (1) 1 citation
Targeted (7) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AI851169 (e-PCR)
- UniSTS:179349

Pot1a (e-PCR), detects polymorphism
- UniSTS:498351

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 single-stranded telomeric DNA binding	ISS Inferred from Sequence or Structural Similarity 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 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 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 via telomerase	ISO Inferred from Sequence Orthology more info
involved_in telomere maintenance via telomerase	ISS Inferred from Sequence or Structural Similarity 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	PubMed
located_in chromosome, telomeric region	ISS Inferred from Sequence or Structural Similarity 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
located_in nucleoplasm	TAS Traceable Author Statement 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)

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

NC_000072.7 Reference GRCm39 C57BL/6J

Range

25743939..25809280 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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