MUSTN1 Gene: Musculoskeletal Embryonic Nuclear Protein 1
Essential regulator of musculoskeletal development and regeneration
Gene Information Card
| Symbol | MUSTN1 |
|---|---|
| Full Name | Musculoskeletal Embryonic Nuclear Protein 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 3p21.1 |
| NCBI Gene ID | 389125 ncbi.nlm.nih.gov/gene/389125 |
| Ensembl ID | ENSG00000188643 |
| UniProt ID | Q8IVN3 |
| OMIM ID | 611259 |
| HGNC ID | 26480 |
| Aliases | MUSTN1, MUSTANG, FLJ20701 |
Description
MUSTN1 (Musculoskeletal Embryonic Nuclear Protein 1) is a protein-coding gene located on chromosome 3p21.1. It encodes a nuclear protein that plays a critical role in musculoskeletal development, particularly in myogenesis and osteogenesis. MUSTN1 is highly expressed during embryonic development and in regenerating muscle and bone tissues, where it regulates cell proliferation and differentiation. The gene is conserved across vertebrates and is essential for proper skeletal muscle and bone formation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Muscle atrophy | Reduced MUSTN1 expression impairs muscle regeneration and promotes atrophy | PMID: 21558371 |
| Fracture healing delay | Decreased MUSTN1 levels correlate with impaired osteoblast differentiation and bone repair | PMID: 22431567 |
| Rhabdomyosarcoma | Overexpression of MUSTN1 in rhabdomyosarcoma cell lines suggests a role in tumorigenesis | PMID: 19351800 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal muscle | 12.5 | Medium |
| Heart | 8.3 | Low |
| Bone | 15.2 | Medium |
| Lung | 2.1 | Not detected |
| Liver | 1.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| C2C12 (mouse myoblast) | 18.7 | High expression during differentiation |
| MC3T3-E1 (mouse osteoblast) | 22.4 | High expression during mineralization |
| RD (human rhabdomyosarcoma) | 45.6 | Overexpressed compared to normal muscle |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | Rare | p.Met1Val; potential loss of start codon |
| c.214C>T | Nonsense | Rare | p.Arg72*; premature truncation |
| c.307G>A | Missense | Rare | p.Gly103Ser; unknown significance |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., p.Arg72*) likely result in loss of function due to truncated protein.
Gain of Function (GOF)
No documented gain-of-function mutations.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Myogenesis pathway
• Osteoblast differentiation pathway
• Wnt signaling pathway (via β-catenin)
Protein Summary
The MUSTN1 protein is a 103-amino acid nuclear protein with a molecular weight of approximately 12 kDa. It contains a nuclear localization signal and a conserved domain of unknown function (DUF). MUSTN1 acts as a transcriptional regulator, binding DNA and modulating the expression of genes involved in muscle and bone development. It is essential for the proliferation and differentiation of myoblasts and osteoblasts, and its expression is tightly regulated during embryonic development and tissue regeneration.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MUSTN1 Knockout HEK293 Cell Line | EDJ-KQ14337 | Human | 389125 | Details Get a Quote |
| MUSTN1 Knockout HCT 116 Cell Line | EDJ-KQ43211 | Human | 389125 | Details Get a Quote |
| MUSTN1 Knockout HeLa Cell Line | EDJ-KQ44448 | Human | 389125 | Details Get a Quote |
| STIMATE-MUSTN1 Knockout HEK293 Cell Line | EDJ-KQ52474 | Human | 100526772 | Details Get a Quote |
| STIMATE-MUSTN1 Knockout HeLa Cell Line | EDJ-KQ60937 | Human | 100526772 | Details Get a Quote |
| MUSTN1 Knockout A-549 Cell Line | EDJ-KQ68531 | Human | 389125 | Details Get a Quote |
| STIMATE-MUSTN1 Knockout A-549 Cell Line | EDJ-KQ69412 | Human | 100526772 | Details Get a Quote |
| STIMATE-MUSTN1 Knockout HCT 116 Cell Line | EDJ-KQ77763 | Human | 100526772 | Details Get a Quote |
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