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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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MTUS1
microtubule associated scaffold protein 1
Chromosome 8 · 8p22
NCBI Gene: 57509Ensembl: ENSG00000129422.16HGNC: HGNC:29789UniProt: Q9ULD2
86PubMed Papers
21Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Tumor Suppressor
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
GO:0005615microtubule cytoskeletonnucleolusmicrotubule bindingopen-angle glaucomaglaucomapathological myopiahepatocellular carcinoma
✦AI Summary

MTUS1 (microtubule-associated scaffold protein 1) is a tumor suppressor gene located at chromosome 8 that encodes a family of proteins (ATIP isoforms) with distinct subcellular localizations and functions 1. The gene produces multiple isoforms with different tissue distributions: ATIP1 is ubiquitous and brain-enriched, ATIP3 is predominant in cancer-prone tissues (prostate, bladder, breast, ovary, colon), and ATIP4 is brain-specific 1. Mechanistically, MTUS1 inhibits cell proliferation through multiple pathways. ATIP1 localizes to the outer mitochondrial membrane where it interacts with MFN2, stimulates reactive oxygen species (ROS) production, and induces GSDME-dependent pyroptotic cell death in head and neck squamous cell carcinoma 2. The mitochondrial isoform Mtus1A functions as a scaffold protein maintaining the IP3R1-Grp75-VDAC1 complex at mitochondria-associated ER membranes (MAMs), preserving ER-mitochondria communication and mitochondrial function 3. Downregulation of MTUS1 is frequently observed in multiple human cancers including pancreatic, colorectal, bladder, head-and-neck, ovarian, breast, gastric, and lung cancers 4. In colorectal cancer, low MTUS1 expression correlates with poor overall survival and serves as an independent prognostic factor 5. Beyond cancer, mutations in MTUS1 occur in hepatocellular carcinoma 6, and reduced expression is associated with cardiac dysfunction after myocardial infarction 3. MTUS1 also appears protective in mesothelioma 7.

Sources cited
1
Mtus1A localizes to MAMs, maintains IP3R1-Grp75-VDAC1 complex, and protects cardiac function after myocardial infarction
PMID: 40583767
2
MTUS1 is downregulated in pancreas, colon, bladder, head-and-neck, ovarian, breast, gastric, and lung cancers; implicated in proliferation, differentiation, DNA repair, and inflammation
PMID: 28499941
3
MTUS1 is associated with lower mesothelioma risk in integrative eQTL and Mendelian randomization analysis
PMID: 40223054
4
Deleterious nsSNPs in MTUS1 can affect protein stability and are associated with stomach adenocarcinoma and uterine corpus endometrial carcinoma
PMID: 34125870
5
MTUS1 downregulation in colorectal cancer correlates with poor overall survival and serves as an independent prognostic factor
PMID: 35962436
6
MTUS1/ATIP mutations occur in hepatocellular carcinoma, affecting conserved structural motifs
PMID: 16650523
7
MTUS1/ATIP1 localizes to outer mitochondrial membrane, interacts with MFN2, stimulates ROS, and induces pyroptosis in head and neck squamous cell carcinoma
PMID: 38725862
8
MTUS1 generates three major isoforms (ATIP1, ATIP3, ATIP4) with distinct tissue distributions and subcellular localizations
PMID: 16887298
Disease Associationsⓘ21
open-angle glaucomaOpen Targets
0.45Moderate
glaucomaOpen Targets
0.40Moderate
pathological myopiaOpen Targets
0.32Weak
hepatocellular carcinomaOpen Targets
0.31Weak
ovarian dysfunctionOpen Targets
0.30Weak
liver diseaseOpen Targets
0.29Weak
hyperthyroidismOpen Targets
0.26Weak
ThyrotoxicosisOpen Targets
0.26Weak
respiratory system diseaseOpen Targets
0.26Weak
biliary tract diseaseOpen Targets
0.23Weak
type 2 diabetes mellitusOpen Targets
0.14Weak
neoplasmOpen Targets
0.11Weak
head and neck squamous cell carcinomaOpen Targets
0.10Suggestive
prostate cancerOpen Targets
0.09Suggestive
breast cancerOpen Targets
0.09Suggestive
tooth agenesisOpen Targets
0.08Suggestive
colorectal carcinomaOpen Targets
0.08Suggestive
lung cancerOpen Targets
0.08Suggestive
gliomaOpen Targets
0.07Suggestive
urinary bladder carcinomaOpen Targets
0.07Suggestive
Hepatocellular carcinomaUniProt
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CD8AProtein interaction100%PDCD1LG2Protein interaction95%LAG3Protein interaction91%AGTR2Protein interaction87%HAVCR2Protein interaction83%CTLA4Protein interaction80%
Tissue Expression6 tissues
Heart
100%
Liver
47%
Ovary
43%
Brain
30%
Lung
21%
Bone Marrow
1%
Gene Interaction Network
Click a node to explore
MTUS1CD8APDCD1LG2LAG3AGTR2HAVCR2CTLA4
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9ULD2
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.02LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.85 [0.72–1.02]
RankingsWhere MTUS1 stands among ~20K protein-coding genes
  • #5,552of 20,598
    Most Researched86
  • #10,042of 17,882
    Most Constrained (LOEUF)1.02
Genes detectedMTUS1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Mitochondrial Tumor Suppressor 1A Attenuates Myocardial Infarction Injury by Maintaining the Coupling Between Mitochondria and Endoplasmic Reticulum.
PMID: 40583767
Circulation · 2025
1.00
2
MTUS1, a gene encoding angiotensin-II type 2 (AT2) receptor-interacting proteins, in health and disease, with special emphasis on its role in carcinogenesis.
PMID: 28499941
Gene · 2017
0.90
3
Integrative eQTL and Mendelian randomization analysis reveals key genetic markers in mesothelioma.
PMID: 40223054
Respir Res · 2025
0.80
4
In silico analysis of deleterious SNPs of human MTUS1 gene and their impacts on subsequent protein structure and function.
PMID: 34125870
PLoS One · 2021
0.70
5
MTUS1 is a promising diagnostic and prognostic biomarker for colorectal cancer.
PMID: 35962436
World J Surg Oncol · 2022
0.60