Pot1a Gene Summary [Mouse]
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, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Pot1a |
| Official Name | protection of telomeres 1A [Source:MGI Symbol;Acc:MGI:2141503] |
| Ensembl ID | ENSMUSG00000029676 |
| Bio databases IDs | |
| Aliases | protection of telomeres 1A |
| Synonyms | 1500031H18Rik, CMM10, CRMCC3, GLM9, HPOT1, PFBMFT8, Pot1a, protection of telomeres 1, protection of telomeres 1A, TPDS3 |
| Species | Mouse, Mus musculus |
| Orthologies |
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 Pot1a often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- protein interaction domain
- DNA binding domain
- enzyme inhibitor activity
- DNA secondary structure binding
- oligosaccharide/oligonucleotide-binding fold
- ssDNA-binding domain
- protein binding
- sequence-specific DNA binding
- telomeric DNA binding
- oligonucleotide/oligosaccharide-binding fold of replication protein A and class 2b aminoacyl-tRNA synthetases
- damaged DNA binding
- single-stranded DNA binding
- DEAD/H-box RNA helicase binding
- PTOP binding region
Pathways
Biological processes and signaling networks where the Pot1a gene in mouse plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- cancer
- epithelial cancer
- epithelial neoplasia
- adult T-cell leukemia/lymphoma
- cutaneous T-cell lymphoma
- dyskeratosis congenita
- susceptibility to cutaneous malignant melanoma type 10
- chronic lymphocytic leukemia
- hereditary cancer-predisposing syndrome
- familial melanoma
role in cell
- apoptosis
- proliferation
- binding in
- formation
- formation in
- organization
- disassembly in
- end-to-end fusion
- elongation
- fusion
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
- nuclear fraction
- Cytoplasm
- nucleoplasm
- telomeres
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Pot1a gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- regulation of double-strand break repair via nonhomologous end joining
- positive regulation of DNA strand elongation
- telomere maintenance via telomerase
- positive regulation of helicase activity
- positive regulation of telomerase activity
- establishment of protein localization to telomere
- DNA duplex unwinding
- positive regulation of telomere maintenance via telomerase
- telomere assembly
- regulation of telomere maintenance via telomerase
- negative regulation of telomere maintenance via telomerase
- telomere capping
- positive regulation of telomere maintenance
- negative regulation of telomerase activity
Cellular Component
Where in the cell the gene product is active
- chromosome, telomeric region
- telosome
- nuclear telomere cap complex
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- protein binding
- telomeric DNA binding
- DEAD/H-box RNA helicase binding
- single-stranded telomeric DNA binding
- telomerase inhibitor activity