MPLKIP
M-phase specific PLK1 interacting protein
Gene Information Card
| Symbol | MPLKIP |
|---|---|
| Full Name | M-phase specific PLK1 interacting protein |
| Gene Type | Protein coding |
| Chromosomal Location | 7p14.1 |
| NCBI Gene ID | 136259 ncbi.nlm.nih.gov/gene/136259 |
| Ensembl ID | ENSG00000185483 |
| UniProt ID | Q8TAP9 |
| OMIM ID | 609188 |
| HGNC ID | 24899 |
| Aliases | ABHS, C7orf11, TTDN1 |
Description
MPLKIP (M-phase specific PLK1 interacting protein) encodes a protein that interacts with PLK1 (Polo-like kinase 1) and is involved in cell cycle progression. Mutations in this gene cause non-photosensitive trichothiodystrophy (TTD), a disorder characterized by brittle hair, intellectual disability, and growth abnormalities, without the photosensitivity seen in other TTD forms.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Non-photosensitive trichothiodystrophy (TTD) | Loss-of-function mutations in MPLKIP disrupt PLK1 interaction, impairing cell cycle and leading to TTD phenotype | OMIM #609188; ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Medium |
| Brain | 8.5 | Low |
| Skin | 6.1 | Low |
| Liver | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.1 | Moderate expression |
| HeLa | 7.8 | Low expression |
| K562 | 5.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon, likely loss of function |
| c.325C>T (p.Arg109*) | Nonsense | Rare | Premature stop, loss of function |
| c.472_473delAG (p.Ser158fs) | Frameshift | Rare | Frameshift, loss of function |
Mutation functional classification
Loss of Function (LOF)
Most reported MPLKIP mutations are loss-of-function, leading to reduced or absent protein, causing non-photosensitive TTD.
Gain of Function (GOF)
No evidence of gain-of-function mutations.
Dominant Negative (DN)
No evidence of dominant-negative mutations.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • cell cycle (GO:0007049) |
| • cell division (GO:0051301) | • centrosome (GO:0005813) |
Pathways
• Cell cycle (Reactome: R-HSA-1640170)
• PLK1 signaling events
Protein Summary
MPLKIP is a 219-amino acid protein that localizes to the centrosome and interacts with PLK1 during mitosis. It is essential for proper cell cycle progression. Loss of function leads to trichothiodystrophy without photosensitivity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MPLKIP Knockout HEK293 Cell Line | EDJ-KQ3073 | Human | 136647 | Details Get a Quote |
| MPLKIP Knockout A-549 Cell Line | EDJ-KQ24354 | Human | 136647 | Details Get a Quote |
| MPLKIP Knockout HCT 116 Cell Line | EDJ-KQ24355 | Human | 136647 | Details Get a Quote |
| MPLKIP Knockout HeLa Cell Line | EDJ-KQ24356 | Human | 136647 | Details Get a Quote |
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