KNL1
Summary: 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].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| kinetochore scaffold 1 | MIM:609173 | Ensembl:ENSG00000137812 | HGNC:HGNC:24054 | PA142672201 | 15q15.1 |
GO terms in KNL1
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IPI | GO:0005515 | protein binding |
| CC | IDA | GO:0000777 | condensed chromosome kinetochore |
| CC | IDA | GO:0001669 | acrosomal vesicle |
| CC | IDA | GO:0005634 | nucleus |
| CC | IDA | GO:0005654 | nucleoplasm |
| CC | TAS | GO:0005654 | nucleoplasm |
| CC | IDA | GO:0005829 | cytosol |
| CC | TAS | GO:0005829 | cytosol |
| CC | IDA | GO:0016604 | nuclear body |
| BP | NAS | GO:0001675 | acrosome assembly |
| BP | IDA | GO:0008608 | attachment of spindle microtubules to kinetochore |
| BP | IDA | GO:0010923 | negative regulation of phosphatase activity |
| BP | TAS | GO:0034080 | CENP-A containing nucleosome assembly |
| BP | IDA | GO:0034501 | protein localization to kinetochore |
| BP | IEA | GO:0051301 | cell division |
Gene expression in normal tissue: KNL1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in KNL1
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-141424 | Amplification of signal from the kinetochores |
| reactome | R-HSA-141444 | Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal |
| reactome | R-HSA-162582 | Signal Transduction |
| reactome | R-HSA-1640170 | Cell Cycle |
| reactome | R-HSA-194315 | Signaling by Rho GTPases |
| reactome | R-HSA-195258 | RHO GTPase Effectors |
| reactome | R-HSA-2467813 | Separation of Sister Chromatids |
| reactome | R-HSA-2500257 | Resolution of Sister Chromatid Cohesion |
| reactome | R-HSA-2555396 | Mitotic Metaphase and Anaphase |
| reactome | R-HSA-5663220 | RHO GTPases Activate Formins |
| reactome | R-HSA-606279 | Deposition of new CENPA-containing nucleosomes at the centromere |
| reactome | R-HSA-68877 | Mitotic Prometaphase |
| reactome | R-HSA-68882 | Mitotic Anaphase |
| reactome | R-HSA-68886 | M Phase |
| reactome | R-HSA-69278 | Cell Cycle, Mitotic |
| reactome | R-HSA-69618 | Mitotic Spindle Checkpoint |
| reactome | R-HSA-69620 | Cell Cycle Checkpoints |
| reactome | R-HSA-73886 | Chromosome Maintenance |
| reactome | R-HSA-774815 | Nucleosome assembly |
Gene-Drug: Aster Plot
| Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD512 | nutlin 3 | 4 |
| iGMDRD84 | Lovastatin acid | 1 |
| iGMDRD150 | RITA | 2 |
| iGMDRD351 | GW843682X | 4 |
| iGMDRD57 | Chloropentafluorobenzene | 2 |
| iGMDRD123 | Isoevodiamine | 4 |
| iGMDRD5 | Tyrphostin AG 1478 | 1 |
| iGMDRD103 | SN-38 | 3 |
| iGMDRD121 | GMX1778 | 2 |
| iGMDRD77 | Itraconazole | 2 |
| iGMDRD267 | Oligomycin A | 1 |
| iGMDRD705 | Nakiterpiosin | 5 |
| iGMDRD329 | Merck60 | 5 |
| iGMDRD414 | MST-312 | 1 |
| iGMDRD505 | Pevonedistat | 5 |
| iGMDRD552 | AZD-1775 | 2 |
| iGMDRD246 | NPC26 | 3 |
| iGMDRD599 | Salermide | 4 |
| iGMDRD126 | Tipifarnib | 3 |
| iGMDRD151 | CHM-1 | 5 |
| iGMDRD494 | Neopeltolide | 6 |
| iGMDRD781 | Sirolimus | 1 |
| iGMDRD779 | PRL-3 Inhibitor I | 2 |
| iGMDRD193 | Fqi1 | 2 |
| iGMDRD152 | 179324-69-7 | 3 |
| iGMDRD260 | FQI-2 | 4 |
| iGMDRD138 | PX 12 | 1 |
| iGMDRD187 | BRD9876 | 2 |
| iGMDRD171 | Pemetrexed | 3 |
| iGMDRD562 | Navitoclax | 1 |
| iGMDRD398 | Sepantronium | 2 |
| iGMDRD100 | Zebularine | 7 |
| iGMDRD887 | Compound 23 citrate | 2 |
| iGMDRD74 | Idarubicin | 3 |
| iGMDRD399 | Selumetinib | 2 |
| iGMDRD356 | PNU-74654 | 1 |
| iGMDRD64 | Parbendazole | 1 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in KNL1
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