KIF23: Kinesin Family Member 23
A key mitotic kinesin involved in cytokinesis and implicated in cancer and developmental disorders
Gene Information Card
| Symbol | KIF23 |
|---|---|
| Full Name | Kinesin Family Member 23 |
| Gene Type | Protein coding |
| Chromosomal Location | 15q23 |
| NCBI Gene ID | 9493 ncbi.nlm.nih.gov/gene/9493 |
| Ensembl ID | ENSG00000137807 |
| UniProt ID | Q02241 |
| OMIM ID | 605664 |
| HGNC ID | 6392 |
| Aliases | MKLP1, KNSL5, CHO1 |
Description
KIF23 encodes a member of the kinesin-like protein family, specifically the mitotic kinesin-like protein 1 (MKLP1). This protein is a plus-end-directed motor that localizes to the midbody and is essential for cytokinesis, the final step of cell division. It interacts with other proteins such as PRC1 and CENP-E to facilitate spindle midzone formation and cleavage furrow ingression. Dysregulation of KIF23 is associated with various cancers and neurodevelopmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Microcephaly 12, primary, autosomal recessive | Loss-of-function mutations impair cytokinesis in neural progenitors, reducing brain size | OMIM #618091 |
| Acute myeloid leukemia | Overexpression of KIF23 disrupts cytokinesis, leading to aneuploidy | COSMIC, PubMed studies |
| Breast cancer | Upregulation correlates with poor prognosis and increased proliferation | NCBI Gene, PubMed |
| Colorectal cancer | KIF23 amplification promotes tumor growth via mitotic defects | COSMIC, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone marrow | 12.5 | Medium |
| Testis | 10.2 | Medium |
| Lymph node | 8.9 | Low |
| Brain | 6.3 | Low |
| Liver | 3.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.4 | High expression in cervical cancer line |
| K562 | 13.2 | Leukemia cell line |
| MCF7 | 11.8 | Breast cancer cell line |
| HEK293 | 7.5 | Embryonic kidney line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.274C>T (p.Arg92*) | Nonsense | Rare | Loss of function; associated with microcephaly |
| c.901G>A (p.Gly301Arg) | Missense | Rare | Impaired motor activity; reported in primary microcephaly |
| c.1234_1235insA | Frameshift | Rare | Truncated protein; loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations in KIF23 cause loss of motor function, leading to cytokinesis failure and microcephaly.
Gain of Function (GOF)
Not well documented; overexpression in cancers may act as a dominant oncogenic driver.
Dominant Negative (DN)
Some missense mutations may interfere with wild-type KIF23 function, but evidence is limited.
View complete mutation data：
Gene Ontology (GO)
| • microtubule motor activity | • ATP binding |
| • cytokinesis | • mitotic spindle midzone assembly |
| • cell division |
Pathways
• Cytokinesis (Reactome: R-HSA-2467813)
• Mitotic Prometaphase (Reactome: R-HSA-68877)
• Kinesins (Reactome: R-HSA-983189)
Protein Summary
KIF23 (MKLP1) is a 957-amino acid kinesin motor protein that forms a homotetrameric complex essential for cytokinesis. It contains an N-terminal motor domain, a central coiled-coil region, and a C-terminal cargo-binding domain. The protein localizes to the central spindle and midbody, where it bundles microtubules and drives the final separation of daughter cells. Post-translational modifications, including phosphorylation by Aurora B and Plk1, regulate its activity and localization.
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