MTUS1

Chr 8

microtubule associated scaffold protein 1

Also known as: ATBP, ATIP, ATIP3, ICIS, MP44, MTSG1

NCBI Gene: 57509ENSG00000129422UniProt: Q9ULD2

This gene encodes a protein which contains a C-terminal domain able to interact with the angiotension II (AT2) receptor and a large coiled-coil region allowing dimerization. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. One of the transcript variants has been shown to encode a mitochondrial protein that acts as a tumor suppressor and partcipates in AT2 signaling pathways. Other variants may encode nuclear or transmembrane proteins but it has not been determined whether they also participate in AT2 signaling pathways. [provided by RefSeq, Jul 2008]

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Primary Disease Associations & Inheritance

UniProtHepatocellular carcinoma
0
Active trials
6
Pubs (1 yr)
80
P/LP submissions
0%
P/LP missense
0.69
LOEUF
DN
Mechanism· predicted
Clinical Summary— MTUS1
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
80 unique Pathogenic / Likely Pathogenic· 112 VUS of 241 total submissions
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
0.69LOEUF
pLI 0.000
Z-score 3.33
OE 0.50 (0.37–0.69)
Tolerant

Typical tolerance to LoF variation

Missense Constraint
-5.93Z-score
OE missense 1.66 (1.58–1.75)
1063 obs / 640.5 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios
LoF OE0.50 (0.37–0.69)
0≤0.351.4
Missense OE1.66 (1.58–1.75)
0≤0.61.4
Synonymous OE1.30
0≤1.21.6
LoF obs/exp: 26 / 51.9Missense obs/exp: 1063 / 640.5Syn Z: -3.71
DN
0.6745th %ile
GOF
0.5269th %ile
LOF
0.4037th %ile

The highest-scoring mechanism for this gene is dominant-negative.

DNprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

241 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic76
Likely Pathogenic4
VUS112
Likely Benign15
Benign6
76
Pathogenic
4
Likely Pathogenic
112
VUS
15
Likely Benign
6
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
76
0
76
Likely Pathogenic
0
0
4
0
4
VUS
0
95
17
0
112
Likely Benign
0
12
2
1
15
Benign
0
4
1
1
6
Total01111002213

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

MTUS1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 5 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
YTHDF2 drives oral squamous cell carcinoma progression via m6A-dependent degradation of MTUS1/ATIP1 mRNA and mitochondrial dysregulation.
Tang D et al.·Cell Signal
2025
The Role of the MTUS1 Gene in the Development of Left Ventricular Noncompaction Cardiomyopathy-A Case Report.
Gorjanc T et al.·Genes (Basel)
2025Open AccessCase report
FTO-mediated demethylation of MTUS1/ATIP1 promotes tumor progression in head and neck squamous cell carcinoma.
Tang D et al.·BMC Cancer
2024Open Access
Mitochondrial outer membrane protein MTUS1/ATIP1 exerts antitumor effects through ROS-induced mitochondrial pyroptosis in head and neck squamous cell carcinoma.
Tang D et al.·Int J Biol Sci
2024Open Access
Long non-coding RNA PRR7-AS1 promotes osteosarcoma progression via binding RNF2 to transcriptionally suppress MTUS1.
Chen-Xi G et al.·Front Oncol
2023Open Access
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients