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

Summary

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 cellular senescence; negative regulation of DNA recombination at telomere; and protection from non-homologous end joining at telomere. Located in chromosome, telomeric region. Part of nuclear telomere cap complex. Is expressed in several structures, including brain; genitourinary system; liver; musculature; and spleen. 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: 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

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_000083.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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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?

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.
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.
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.
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).
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.
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.
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.
Pot1b plays an essential role in hematopoietic stem cell survival.
Title: Essential roles for Pot1b in HSC self-renewal and survival.
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.
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)

Endonuclease-mediated (2)
Targeted (4) 1 citation
Transgenic (1)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Pot1b (e-PCR), detects polymorphism
- UniSTS:498352

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	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 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 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

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)

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
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

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

NC_000083.7 Reference GRCm39 C57BL/6J

Range

55958190..56019647 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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
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
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
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
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
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