Pot1b Gene Summary [Mouse]

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, Jul 2025]

Details

Type
Nonsense Mediated Decay
Official Symbol
Pot1b
Official Name
protection of telomeres 1B [Source:MGI Symbol;Acc:MGI:1920086]
Ensembl ID
ENSMUSG00000024174
Bio databases IDs NCBI: 72836 Ensembl: ENSMUSG00000024174
Aliases protection of telomeres 1B
Synonyms 2810458H16Rik, AC182748.1, LOC681796, protection of telomeres 1B
Species
Mouse, Mus musculus
OrthologiesRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in mouse Pot1b often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • damaged DNA binding
  • single-stranded DNA binding
  • DEAD/H-box RNA helicase binding
  • enzyme inhibitor activity
  • DNA secondary structure binding
  • enzyme binding
  • protein binding
  • sequence-specific DNA binding
  • telomeric DNA binding
  • oligonucleotide/oligosaccharide-binding fold of replication protein A and class 2b aminoacyl-tRNA synthetases

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • thrombocytopenia
  • anemia
  • pancytopenia
  • skin hyperpigmentation
regulated by
regulates
  • GTPase
role in cell
  • growth
  • survival
  • apoptosis
  • phagocytosis by
  • number
  • abnormal morphology
  • organization
  • abnormality
  • hyperresection in
  • senescence in

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Nucleus
  • nucleoplasm
  • telomeres