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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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MUSTN1
musculoskeletal, embryonic nuclear protein 1
Chromosome 3 · 3p21.1
NCBI Gene: 389125Ensembl: ENSG00000272573.7HGNC: HGNC:22144UniProt: Q8IVN3
9PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
nucleuspositive regulation of myoblast differentiationglucose homeostasistissue regenerationobesitymajor depressive disorderschizophreniaovernutrition
✦AI Summary

MUSTN1 (musculoskeletal embryonic nuclear protein 1) is a small nuclear microprotein (~9.6 kDa) that functions as a key developmental regulator of musculoskeletal tissues 1. In skeletal muscle, MUSTN1 is expressed by Pax7-positive satellite cells and is essential for myoblast proliferation, differentiation, and fusion 23. The protein is transcriptionally regulated by AP family transcription factors (c-Fos, Fra-2, JunD) and MyoD1 14. Beyond nuclear functions, MUSTN1 is secreted from smooth muscle cells as an exosome-transmissible microprotein that modulates skeletal muscle extracellular matrix composition 54. Mechanistically, MUSTN1 prevents muscle atrophy by suppressing ferroptosis through ACO1-dependent iron homeostasis and lipid peroxidation reduction 4. MUSTN1 also interacts with SMPX to regulate myogenic differentiation and stabilizes FABP3 to promote adipogenesis 36. Clinically, MUSTN1 expression is dynamically elevated in response to exercise, muscle injury, and regeneration 72. MUSTN1 knockout mice display reduced muscle mass, impaired regeneration, altered fiber-type composition, decreased glucose metabolism, and reduced exercise endurance 28, while protection against diet-induced obesity 6. These findings establish MUSTN1 as a critical regulator with therapeutic potential for muscle-wasting diseases and metabolic disorders.

Sources cited
1
MUSTN1 (musculoskeletal embryonic nuclear protein 1) is a small nuclear microprotein (~9.6 kDa) that functions as a key developmental regulator of musculoskeletal tissues .
PMID: 29329193
2
The protein is transcriptionally regulated by AP family transcription factors (c-Fos, Fra-2, JunD) and MyoD1 , .
PMID: 41547500
3
MUSTN1 also interacts with SMPX to regulate myogenic differentiation and stabilizes FABP3 to promote adipogenesis , .
PMID: 40239869
⚠Limited data available — This gene has 3 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
obesityOpen Targets
0.22Weak
major depressive disorderOpen Targets
0.21Weak
schizophreniaOpen Targets
0.17Weak
overnutritionOpen Targets
0.17Weak
bipolar disorderOpen Targets
0.17Weak
attention deficit hyperactivity disorderOpen Targets
0.16Weak
osteoarthritisOpen Targets
0.16Weak
substance abuseOpen Targets
0.16Weak
type 2 diabetes mellitusOpen Targets
0.15Weak
smoking initiationOpen Targets
0.14Weak
Abnormality of the skeletal systemOpen Targets
0.13Weak
psychiatric disorderOpen Targets
0.13Weak
osteoarthritis, kneeOpen Targets
0.13Weak
ArthropathyOpen Targets
0.09Suggestive
hemorrhoidOpen Targets
0.08Suggestive
AnxietyOpen Targets
0.08Suggestive
inflammatory bowel diseaseOpen Targets
0.07Suggestive
anxiety disorderOpen Targets
0.05Suggestive
risk-taking behaviourOpen Targets
0.05Suggestive
colorectal cancerOpen Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
STIMATEProtein interaction71%SLC26A2Shared pathway22%SP9Shared pathway17%MLXIPShared pathway17%MLXShared pathway17%SNX19Shared pathway14%
Tissue Expression6 tissues
Liver
100%
Lung
80%
Ovary
60%
Brain
7%
Bone Marrow
0%
Heart
0%
Gene Interaction Network
Click a node to explore
MUSTN1STIMATESLC26A2SP9MLXIPMLXSNX19
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q8IVN3
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.78LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.19 [0.78–1.78]
RankingsWhere MUSTN1 stands among ~20K protein-coding genes
  • #17,386of 20,598
    Most Researched9
  • #16,490of 17,882
    Most Constrained (LOEUF)1.78
Genes detectedMUSTN1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Mustn1: A Developmentally Regulated Pan-Musculoskeletal Cell Marker and Regulatory Gene.
PMID: 29329193
Int J Mol Sci · 2018
1.00
2
Mustn1 is a smooth muscle cell-secreted microprotein that modulates skeletal muscle extracellular matrix composition.
PMID: 38458566
Mol Metab · 2024
0.90
3
PMID: 39062608
Genes (Basel) · 2024
0.80
4
MUSTN1 Interaction With SMPX Regulates Muscle Development and Regeneration.
PMID: 39828423
Cell Prolif · 2025
0.70
5
MUSTN1 and FABP3 interact to regulate adipogenesis and lipid deposition.
PMID: 40239869
J Lipid Res · 2025
0.60