MTUS1: Microtubule Associated Scaffold Protein 1
A tumor suppressor gene encoding ATIP proteins involved in cell growth regulation and cancer
Gene Information Card
| Symbol | MTUS1 |
|---|---|
| Full Name | Microtubule Associated Scaffold Protein 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 8p22 |
| NCBI Gene ID | 57509 ncbi.nlm.nih.gov/gene/57509 |
| Ensembl ID | ENSG00000129422 |
| UniProt ID | Q9ULD2 |
| OMIM ID | 609589 |
| HGNC ID | 29789 |
| Aliases | ATIP, ATIP1, ATIP3, MTSG1, GK1 |
Description
MTUS1 (Microtubule Associated Scaffold Protein 1) encodes a family of ATIP (Angiotensin II Type I receptor Interacting Protein) isoforms through alternative splicing. These proteins act as tumor suppressors by inhibiting cell proliferation, promoting apoptosis, and regulating microtubule dynamics. MTUS1 is frequently downregulated in various cancers, including breast, ovarian, pancreatic, and colorectal cancers. It also modulates angiotensin II signaling and is implicated in hypertension and cardiovascular function.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Loss of MTUS1 expression leads to increased cell proliferation and migration via impaired ATIP3-mediated microtubule stabilization | PMID: 19351840 |
| Ovarian cancer | Reduced MTUS1 expression correlates with poor prognosis; re-expression suppresses tumor growth | PMID: 20099276 |
| Pancreatic cancer | MTUS1 downregulation promotes epithelial-mesenchymal transition and metastasis | PMID: 23541953 |
| Colorectal cancer | MTUS1 hypermethylation and loss of expression contribute to tumor progression | PMID: 21912543 |
| Hypertension | MTUS1 variants associated with blood pressure regulation through ATIP interaction with angiotensin II type 1 receptor | PMID: 17293864 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 8.3 | Low |
| Kidney | 15.1 | Medium |
| Liver | 6.7 | Low |
| Lung | 10.2 | Medium |
| Breast | 9.8 | Low |
| Ovary | 14.0 | Medium |
| Pancreas | 5.4 | Low |
| Colon | 11.3 | Medium |
| Prostate | 7.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 8.5 | Low expression compared to normal breast tissue |
| HeLa (cervical cancer) | 12.0 | Moderate expression |
| HCT116 (colorectal cancer) | 6.2 | Reduced expression due to hypermethylation |
| PANC-1 (pancreatic cancer) | 4.1 | Very low expression |
| HEK293 (embryonic kidney) | 15.3 | High expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.1% | Loss of start codon; likely loss of function |
| c.103C>T (p.Arg35*) | Nonsense | <0.1% | Premature stop; loss of function |
| c.1250_1251del (p.Gln417Argfs*12) | Frameshift | <0.1% | Frameshift; loss of function |
| c.1672G>A (p.Gly558Arg) | Missense | <0.1% | Unknown significance; predicted damaging |
| c.2146C>T (p.Arg716Trp) | Missense | <0.1% | Unknown significance; predicted benign |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations (e.g., p.Arg35*, p.Gln417Argfs*12) result in truncated or absent protein, consistent with tumor suppressor loss-of-function.
Gain of Function (GOF)
No gain-of-function mutations reported in MTUS1.
Dominant Negative (DN)
No dominant-negative mutations reported in MTUS1.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Angiotensin II signaling pathway via AT1 receptor
• Microtubule cytoskeleton organization
• Apoptosis signaling pathway
• p53 signaling pathway (indirect regulation)
Protein Summary
MTUS1 encodes the ATIP (Angiotensin II Type I receptor Interacting Protein) family of isoforms, which are microtubule-associated scaffold proteins. ATIP3, the major isoform, binds to microtubules and stabilizes them, thereby inhibiting cell migration and proliferation. It also interacts with the angiotensin II type 1 receptor (AT1R) to modulate blood pressure. Loss of MTUS1 expression is common in multiple cancers and correlates with poor prognosis, supporting its role as a tumor suppressor.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MTUS1 Knockout HEK293 Cell Line | EDJ-KQ1007 | Human | 57509 | Details Get a Quote |
| MTUS1 Knockout A-549 Cell Line | EDJ-KQ20060 | Human | 57509 | Details Get a Quote |
| MTUS1 Knockout HCT 116 Cell Line | EDJ-KQ20061 | Human | 57509 | Details Get a Quote |
| MTUS1 Knockout HeLa Cell Line | EDJ-KQ20062 | Human | 57509 | Details Get a Quote |
