MPHOSPH6: M-Phase Phosphoprotein 6
A component of the nuclear exosome complex involved in RNA processing and cell cycle regulation.
Gene Information Card
| Symbol | MPHOSPH6 |
|---|---|
| Full Name | M-Phase Phosphoprotein 6 |
| Gene Type | Protein coding |
| Chromosomal Location | 16q23.3 |
| NCBI Gene ID | 10200 ncbi.nlm.nih.gov/gene/10200 |
| Ensembl ID | ENSG00000140937 |
| UniProt ID | Q99547 |
| OMIM ID | 605501 |
| HGNC ID | 7218 |
| Aliases | MPP6, MPP-6, M-phase phosphoprotein 6 |
Description
MPHOSPH6 encodes M-phase phosphoprotein 6, a component of the nuclear exosome complex. The nuclear exosome is a multi-protein complex responsible for 3'->5' exoribonucleolytic processing and degradation of various RNA species, including ribosomal RNA, small nuclear RNA, and messenger RNA. MPHOSPH6 is phosphorylated during mitosis, suggesting a role in cell cycle regulation. It is involved in RNA surveillance and quality control, and its dysregulation has been implicated in cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered expression and mutations in MPHOSPH6 may disrupt RNA processing and cell cycle control, contributing to tumorigenesis. | COSMIC database reports somatic mutations in multiple cancer types. |
| No specific Mendelian disease associated | No OMIM morbid map entry for MPHOSPH6. | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Lymph node | 12.1 | Medium |
| Spleen | 11.5 | Medium |
| Bone marrow | 10.8 | Medium |
| Brain | 8.5 | Low |
| Liver | 6.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 18.5 | High expression |
| HeLa | 14.2 | Medium expression |
| K562 | 12.0 | Medium expression |
| A549 | 9.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.374C>T (p.Pro125Leu) | Missense | <0.1% | Unknown functional effect; reported in COSMIC |
| c.487G>A (p.Gly163Arg) | Missense | <0.1% | Unknown functional effect; reported in COSMIC |
| c.601_602insA (p.Thr201Asnfs*2) | Frameshift | <0.1% | Predicted loss of function; reported in COSMIC |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., c.601_602insA) are predicted to cause loss of function by truncating the protein.
Gain of Function (GOF)
No evidence for gain-of-function mutations in MPHOSPH6.
Dominant Negative (DN)
No evidence for dominant-negative mutations in MPHOSPH6.
View complete mutation data：
Gene Ontology (GO)
| • RNA binding | • 3'-5' exoribonuclease activity |
| • nuclear exosome (RNase complex) | • RNA processing |
| • nucleus | • cytoplasm |
Pathways
• RNA degradation
• Nuclear exosome pathway
Protein Summary
MPHOSPH6 is a 20 kDa protein that localizes to the nucleus and is a structural component of the nuclear exosome. It contains an RNA-binding domain and interacts with other exosome subunits. The protein is phosphorylated during M phase, indicating a role in cell cycle progression. It is involved in the processing and degradation of a wide range of RNA molecules, contributing to RNA quality control.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MPHOSPH6 Knockout HEK293 Cell Line | EDJ-KQ3982 | Human | 10200 | Details Get a Quote |
| MPHOSPH6 Knockout A-549 Cell Line | EDJ-KQ44346 | Human | 10200 | Details Get a Quote |
| MPHOSPH6 Knockout HCT 116 Cell Line | EDJ-KQ44347 | Human | 10200 | Details Get a Quote |
| MPHOSPH6 Knockout HeLa Cell Line | EDJ-KQ18324 | Human | 10200 | Details Get a Quote |
