Knl1 Gene Summary [Mouse]
Predicted to enable microtubule binding activity. Involved in homologous chromosome orientation in meiotic metaphase I and positive regulation of meiosis I spindle assembly checkpoint. Acts upstream of or within several processes, including chromosome segregation; phagocytosis; and positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator. Located in cytoplasm and kinetochore. Is expressed in cerebral cortex ventricular layer; telencephalon; and telencephalon ventricular layer. Human ortholog(s) of this gene implicated in primary autosomal recessive microcephaly; primary autosomal recessive microcephaly 4; and sarcoma. Orthologous to human KNL1 (kinetochore scaffold 1). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Knl1 |
| Official Name | kinetochore scaffold 1 [Source:MGI Symbol;Acc:MGI:1923714] |
| Ensembl ID | ENSMUSG00000027326 |
| Bio databases IDs | |
| Aliases | kinetochore scaffold 1 |
| Synonyms | 2310043D08RIK, 5730505K17Rik, AF15Q14, CASC5, CT29, D40, hKNL-1, hSpc105, KIAA1570, kinetochore scaffold 1, LOC100502596, LOC100911204, LOC102549359, MCPH4, PPP1R55, Spc7 |
| 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 Knl1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- MELT motif
- microtubule binding
- Nuf2, DHR10-like domain
- RWD, DRWD, and ELF domain family
- Met-glu-Leu-Thr repeat
- KI motif
- PP1 binding domain
- coiled-coil domain
- protein binding
- Knl1 RWD C-terminal domain
- kinetochore binding domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- invasive breast cancer
- prostate cancer
- lung adenocarcinoma
- lung adenocarcinoma formation
- idiopathic pulmonary fibrosis
- hereditary disorder
- prostatic carcinoma
- epithelial cancer
- head and neck squamous cell carcinoma
- head and neck squamous cell cancer
regulates
role in cell
- apoptosis
- segregation
- cell viability
- DNA damage response
- misalignment
- phagocytosis by
- misalignment in
- spindle checkpoint in
- attachment
- aneuploidy
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
- Cytoplasm
- cytosol
- nucleoplasm
- nuclear bodies
- acrosome
- kinetochores
- plasma
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Knl1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cell division
- acrosome assembly
- homologous chromosome orientation involved in meiotic metaphase I plate congression
- attachment of spindle microtubules to kinetochore
- regulation of mitotic cell cycle spindle assembly checkpoint
- protein localization to kinetochore
- mitotic sister chromatid segregation
Cellular Component
Where in the cell the gene product is active
- nucleus
- nuclear body
- acrosomal vesicle
- cytosol
- kinetochore
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- protein binding