| Name | kinetochore scaffold 1 |
| Description | The protein encoded by this gene is a component of the multiprotein assembly that is required for creation of kinetochore-microtubule attachments and chromosome segregation. The encoded protein functions as a scaffold for proteins that influence the spindle assembly checkpoint during the eukaryotic cell cycle and it interacts with at least five different kinetochore proteins and two checkpoint kinases. In adults, this gene is predominantly expressed in normal testes, various cancer cell lines and primary tumors from other tissues and is ubiquitously expressed in fetal tissues. This gene was originally identified as a fusion partner with the mixed-lineage leukemia (MLL) gene in t(11;15)(q23;q14). Mutations in this gene cause autosomal recessive primary microcephaly-4 (MCPH4). Alternative splicing results in multiple transcript variants encoding different isoforms. Additional splice variants have been described but their biological validity has not been confirmed. [provided by RefSeq, Jan 2013] |
| Summary |
{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n KNL1 is a central scaffold protein of the conserved KMN network that plays multifaceted roles in ensuring faithful chromosome segregation during mitosis. On one hand, KNL1 provides a structural platform for kinetochore assembly by cooperating with other proteins (e.g. CENP‐K and CENP‐T) to localize outer kinetochore components such as the Ndc80 complex, thereby establishing robust kinetochore–microtubule attachments (4,5). On the other hand, KNL1 serves as an essential regulator of spindle assembly checkpoint signaling. It contains arrays of short linear motifs—including phosphorylatable MELT repeats—that, once modified by the kinase Mps1, act as docking sites for checkpoint proteins such as Bub1 and BubR1 (2,3,6). In addition, a conserved PP1‐binding site within KNL1 targets protein phosphatase 1 to kinetochores, where PP1 counterbalances Aurora B kinase activity to stabilize correct microtubule attachments (1). Together, these studies demonstrate that KNL1 integrates kinetochore assembly and checkpoint signaling to coordinate microtubule attachment with cell‐cycle progression and thereby maintain genomic stability (1,2,3,4,5,6,7)."}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "7"}]}, {"type": "t", "text": ""}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Dan Liu, Mathijs Vleugel, Chelsea B Backer, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Regulated targeting of protein phosphatase 1 to the outer kinetochore by KNL1 opposes Aurora B kinase."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Cell Biol (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1083/jcb.201001006"}], "href": "https://doi.org/10.1083/jcb.201001006"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20231380"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20231380"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Tomomi Kiyomitsu, Chikashi Obuse, Mitsuhiro Yanagida "}, {"type": "b", "children": [{"type": "t", "text": "Human Blinkin/AF15q14 is required for chromosome alignment and the mitotic checkpoint through direct interaction with Bub1 and BubR1."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Dev Cell (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.devcel.2007.09.005"}], "href": "https://doi.org/10.1016/j.devcel.2007.09.005"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17981135"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17981135"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Ivana Primorac, John R Weir, Elena Chiroli, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Bub3 reads phosphorylated MELT repeats to promote spindle assembly checkpoint signaling."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Elife (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.7554/eLife.01030"}], "href": "https://doi.org/10.7554/eLife.01030"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24066227"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24066227"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Iain M Cheeseman, Tetsuya Hori, Tatsuo Fukagawa, et al. "}, {"type": "b", "children": [{"type": "t", "text": "KNL1 and the CENP-H/I/K complex coordinately direct kinetochore assembly in vertebrates."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Biol Cell (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1091/mbc.e07-10-1051"}], "href": "https://doi.org/10.1091/mbc.e07-10-1051"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18045986"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18045986"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Florencia Rago, Karen E Gascoigne, Iain M Cheeseman "}, {"type": "b", "children": [{"type": "t", "text": "Distinct organization and regulation of the outer kinetochore KMN network downstream of CENP-C and CENP-T."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Curr Biol (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.cub.2015.01.059"}], "href": "https://doi.org/10.1016/j.cub.2015.01.059"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25660545"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25660545"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Mathijs Vleugel, Eelco Tromer, Manja Omerzu, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Arrayed BUB recruitment modules in the kinetochore scaffold KNL1 promote accurate chromosome segregation."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Cell Biol (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1083/jcb.201307016"}], "href": "https://doi.org/10.1083/jcb.201307016"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24344183"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24344183"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Soonjoung Kim, Hongtao Yu "}, {"type": "b", "children": [{"type": "t", "text": "Multiple assembly mechanisms anchor the KMN spindle checkpoint platform at human mitotic kinetochores."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Cell Biol (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1083/jcb.201407074"}], "href": "https://doi.org/10.1083/jcb.201407074"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25601404"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25601404"}]}]}]}
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| NCBI Gene ID | 57082 |
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| Predicted Functions |
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| Co-expressed Genes |
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| Expression in Tissues and Cell Lines |
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KNL1 has 3,430 functional associations with biological entities spanning 5 categories (chemical, disease, phenotype or trait, functional term, phrase or reference, cell line, cell type or tissue, gene, protein or microRNA) extracted from 43 datasets.
Click the + buttons to view associations for KNL1 from the datasets below.
If available, associations are ranked by standardized value
| Dataset | Summary | |
|---|---|---|
| Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles | tissue samples with high or low expression of KNL1 gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset. | |
| Carcinogenome Chemical Perturbation Carcinogenicity Signatures | small molecule perturbations changing expression of KNL1 gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset. | |
| CCLE Cell Line Proteomics | Cell lines associated with KNL1 protein from the CCLE Cell Line Proteomics dataset. | |
| CellMarker Gene-Cell Type Associations | cell types associated with KNL1 gene from the CellMarker Gene-Cell Type Associations dataset. | |
| ChEA Transcription Factor Targets 2022 | transcription factors binding the promoter of KNL1 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset. | |
| ClinVar Gene-Phenotype Associations 2025 | phenotypes associated with KNL1 gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset. | |
| CM4AI KOLF21J CRISPRi Gene Perturbation Atlas | gene perturbations changing expression of KNL1 gene from the CM4AI KOLF21J CRISPRi Gene Perturbation Atlas dataset. | |
| CM4AI U2OS Cell Map Protein Localization Assemblies | assemblies containing KNL1 protein from integrated AP-MS and IF data from the CM4AI U2OS Cell Map Protein Localization Assemblies dataset. | |
| COMPARTMENTS Curated Protein Localization Evidence Scores 2025 | cellular components containing KNL1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset. | |
| COMPARTMENTS Experimental Protein Localization Evidence Scores 2025 | cellular components containing KNL1 protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores 2025 dataset. | |
| COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 | cellular components co-occuring with KNL1 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. | |
| DeepCoverMOA Drug Mechanisms of Action | small molecule perturbations with high or low expression of KNL1 protein relative to other small molecule perturbations from the DeepCoverMOA Drug Mechanisms of Action dataset. | |
| DISEASES Curated Gene-Disease Association Evidence Scores 2025 | diseases involving KNL1 gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. | |
| DISEASES Experimental Gene-Disease Association Evidence Scores 2025 | diseases associated with KNL1 gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset. | |
| DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 | diseases co-occuring with KNL1 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. | |
| GO Biological Process Annotations 2023 | biological processes involving KNL1 gene from the curated GO Biological Process Annotations 2023 dataset. | |
| GO Biological Process Annotations 2025 | biological processes involving KNL1 gene from the curated GO Biological Process Annotations2025 dataset. | |
| GO Cellular Component Annotations 2023 | cellular components containing KNL1 protein from the curated GO Cellular Component Annotations 2023 dataset. | |
| GO Cellular Component Annotations 2025 | cellular components containing KNL1 protein from the curated GO Cellular Component Annotations 2025 dataset. | |
| GO Molecular Function Annotations 2025 | molecular functions performed by KNL1 gene from the curated GO Molecular Function Annotations 2025 dataset. | |
| GWAS Catalog SNP-Phenotype Associations 2025 | phenotypes associated with KNL1 gene in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. | |
| HuBMAP Azimuth Cell Type Annotations | cell types associated with KNL1 gene from the HuBMAP Azimuth Cell Type Annotations dataset. | |
| IMPC Knockout Mouse Phenotypes | phenotypes of mice caused by KNL1 gene knockout from the IMPC Knockout Mouse Phenotypes dataset. | |
| JASPAR Predicted Human Transcription Factor Targets 2025 | transcription factors regulating expression of KNL1 gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Human Transcription Factor Targets dataset. | |
| JASPAR Predicted Mouse Transcription Factor Targets 2025 | transcription factors regulating expression of KNL1 gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Mouse Transcription Factor Targets 2025 dataset. | |
| KEGG Pathways 2026 | pathways involving KNL1 protein from the KEGG Pathways 2026 dataset. | |
| Kinase Library Tyrosine Kinome Atlas | kinases that phosphorylate KNL1 protein from the Kinase Library Tyrosine Kinome Atlas dataset. | |
| LINCS L1000 CMAP Chemical Perturbation Consensus Signatures | small molecule perturbations changing expression of KNL1 gene from the LINCS L1000 CMAP Chemical Perturbations Consensus Signatures dataset. | |
| MGI Mouse Phenotype Associations 2023 | phenotypes of transgenic mice caused by KNL1 gene mutations from the MGI Mouse Phenotype Associations 2023 dataset. | |
| NIBR DRUG-seq U2OS MoA Box Gene Expression Profiles | drug perturbations changing expression of KNL1 gene from the NIBR DRUG-seq U2OS MoA Box dataset. | |
| PFOCR Pathway Figure Associations 2023 | pathways involving KNL1 protein from the PFOCR Pathway Figure Associations 2023 dataset. | |
| PFOCR Pathway Figure Associations 2024 | pathways involving KNL1 protein from the Wikipathways PFOCR 2024 dataset. | |
| Reactome Pathways 2024 | pathways involving KNL1 protein from the Reactome Pathways 2024 dataset. | |
| Replogle et al., Cell, 2022 K562 Essential Perturb-seq Gene Perturbation Signatures | gene perturbations changing expression of KNL1 gene from the Replogle et al., Cell, 2022 K562 Essential Perturb-seq Gene Perturbation Signatures dataset. | |
| Replogle et al., Cell, 2022 K562 Genome-wide Perturb-seq Gene Perturbation Signatures | gene perturbations changing expression of KNL1 gene from the Replogle et al., Cell, 2022 K562 Genome-wide Perturb-seq Gene Perturbation Signatures dataset. | |
| Rummagene Transcription Factor Associations 2026 | transcription factors regulating expression of KNL1 gene from the Rummagene Transcription Factor Associations 2026 dataset. | |
| RummaGEO Drug Perturbation Signatures | drug perturbations changing expression of KNL1 gene from the RummaGEO Drug Perturbation Signatures dataset. | |
| RummaGEO Gene Perturbation Signatures | gene perturbations changing expression of KNL1 gene from the RummaGEO Gene Perturbation Signatures dataset. | |
| Sci-Plex Drug Perturbation Signatures | drug perturbations changing expression of KNL1 gene from the Sci-Plex Drug Perturbation Signatures dataset. | |
| Tahoe Therapeutics Tahoe 100M Perturbation Atlas | drug perturbations changing expression of KNL1 gene from the Tahoe Therapeutics Tahoe 100M Perturbation Atlas dataset. | |
| TISSUES Curated Tissue Protein Expression Evidence Scores 2025 | tissues with high expression of KNL1 protein from the TISSUES Curated Tissue Protein Expression Evidence Scores 2025 dataset. | |
| TISSUES Experimental Tissue Protein Expression Evidence Scores 2025 | tissues with high expression of KNL1 protein in proteomics datasets from the TISSUES Experimental Tissue Protein Expression Evidence Scores 2025 dataset. | |
| TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 | tissues co-occuring with KNL1 protein in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset. | |
