MUSTN1 (musculoskeletal, embryonic nuclear protein 1)

Gene

• Entrez ID: 389125
• Gene name: Musculoskeletal, embryonic nuclear protein 1
• Gene symbol: MUSTN1
• Synonyms (NCBI Gene): MUSTANG
• Chromosome: 3
• Chromosome location: 3p21.1

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002062	Process	Chondrocyte differentiation	IEA
GO:0005576	Component	Extracellular region	IEA
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	ISS
GO:0005654	Component	Nucleoplasm	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0007517	Process	Muscle organ development	IEA
GO:0010628	Process	Positive regulation of gene expression	IEA
GO:0030326	Process	Embryonic limb morphogenesis	IEA
GO:0032332	Process	Positive regulation of chondrocyte differentiation	IEA
GO:0035988	Process	Chondrocyte proliferation	IEA
GO:0042246	Process	Tissue regeneration	IEA
GO:0042593	Process	Glucose homeostasis	IEA
GO:0042593	Process	Glucose homeostasis	ISS
GO:0045663	Process	Positive regulation of myoblast differentiation	IEA
GO:0045663	Process	Positive regulation of myoblast differentiation	ISS
GO:0051216	Process	Cartilage development	IEA
GO:1902730	Process	Positive regulation of proteoglycan biosynthetic process	IEA
GO:1902732	Process	Positive regulation of chondrocyte proliferation	IEA

Other IDs

• MIM: 617195
• HGNC: 22144
• e!Ensembl: ENSG00000272573

Protein

• UniProt ID: Q8IVN3
• Protein name: Musculoskeletal embryonic nuclear protein 1
• Protein function: Required for chondrocyte development and proliferation. Plays a role in myoblast differentiation and fusion. Modulates skeletal muscle extracellular matrix composition. Plays a role in skeletal muscle function. Plays a role in glucose homeostasi
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF15682	Mustang	8 → 82	Musculoskeletal, temporally activated-embryonic nuclear protein 1	Family

• Tissue specificity: TISSUE SPECIFICITY: Expression in skeletal muscle is reduced during limb unloading but increases during the active recovery phase that follows. {ECO:0000269|PubMed:38458566}.
• Sequence:

  MSQAGAQEAPIKKKRPPVKDEDLKGARGNLTKNQEIKSKTYQVMRECEQAGSAAPSVFSR
  TRTGTETVFEKPKAGPTKSVFG

• Sequence length: 82

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
BIPOLAR DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, HIP	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Relationship Type	References	Evidence Score
Breast Neoplasms	Associate	25390939	★☆☆☆☆ Found in Text Mining only