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Aliases for MUSTN1 Gene

Aliases for MUSTN1 Gene

  • Musculoskeletal, Embryonic Nuclear Protein 1 2 3 5
  • Musculoskeletal Embryonic Nuclear Protein 1 3
  • Musculoskeletal Temporally Activated Novel 3

External Ids for MUSTN1 Gene

Previous GeneCards Identifiers for MUSTN1 Gene

  • GC03M052825
  • GC03M052842
  • GC03M052847
  • GC03M052877

Summaries for MUSTN1 Gene

GeneCards Summary for MUSTN1 Gene

MUSTN1 (Musculoskeletal, Embryonic Nuclear Protein 1) is a Protein Coding gene. An important paralog of this gene is ENSG00000243696.

UniProtKB/Swiss-Prot for MUSTN1 Gene

  • May be involved in the development and regeneration of the musculoskeletal system.

Additional gene information for MUSTN1 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MUSTN1 Gene

Genomics for MUSTN1 Gene

GeneHancer (GH) Regulatory Elements for MUSTN1 Gene

Promoters and enhancers for MUSTN1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03I052833 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE dbSUPER 550.8 -0.5 -533 3.6 TFAP4 POLR2A HLF CEBPA CEBPB EBF1 CEBPG YY1 TEAD3 ENSG00000243696 MUSTN1 ITIH4 RFT1 ITIH1 PIR43341 STIMATE TMEM110-MUSTN1
GH03I052769 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 10.5 +64.3 64332 2.1 HDGF FOXA2 SMAD1 ARID4B SIN3A DMAP1 IRF4 YY1 SLC30A9 POLR2B NEK4 PBRM1 RRP9 RFT1 ITIH3 ITIH4-AS1 ITIH4 ENSG00000243696 SNORD69 GNL3
GH03I052778 Promoter/Enhancer 1.4 EPDnew Ensembl ENCODE 11 +55.5 55473 2.3 PKNOX1 MAX EBF1 YY1 POLR2A ATF7 IKZF2 SMARCA5 ZNF687 RXRA ITIH1 ITIH4 PBRM1 ENSG00000243696 MUSTN1 TMEM110-MUSTN1 STIMATE WDR82 ITIH3
GH03I052890 Enhancer 1.4 FANTOM5 Ensembl ENCODE 10.7 -57.4 -57405 4.3 HDGF ATF1 FOXA2 MLX ARID4B DMAP1 IRF4 ETS1 YY1 ZNF207 ITIH4 ENSG00000243696 ITIH4-AS1 PBRM1 MUSTN1 SNORD69 ENSG00000222345 ENSG00000252787 SNORD19 SNORD19B
GH03I053071 Enhancer 1.3 FANTOM5 Ensembl ENCODE 10.4 -237.8 -237781 2.3 PKNOX1 ARID4B SIN3A DMAP1 ZNF2 YY1 ETS1 ZNF207 ZNF143 RXRA RFT1 ITIH4 STIMATE ITIH1 TMEM110-MUSTN1 ENSG00000243696 MUSTN1 SFMBT1 DCP1A GC03M053066
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around MUSTN1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MUSTN1 gene promoter:

Genomic Locations for MUSTN1 Gene

Genomic Locations for MUSTN1 Gene
2,106 bases
Minus strand

Genomic View for MUSTN1 Gene

Genes around MUSTN1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MUSTN1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MUSTN1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MUSTN1 Gene

Proteins for MUSTN1 Gene

  • Protein details for MUSTN1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Musculoskeletal embryonic nuclear protein 1
    Protein Accession:

    Protein attributes for MUSTN1 Gene

    82 amino acids
    Molecular mass:
    8911 Da
    Quaternary structure:
    No Data Available

neXtProt entry for MUSTN1 Gene

Post-translational modifications for MUSTN1 Gene

No Post-translational modifications

Other Protein References for MUSTN1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for MUSTN1 Gene

Domains & Families for MUSTN1 Gene

Gene Families for MUSTN1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for MUSTN1 Gene


Suggested Antigen Peptide Sequences for MUSTN1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the MUSTANG family.
  • Belongs to the MUSTANG family.
genes like me logo Genes that share domains with MUSTN1: view

Function for MUSTN1 Gene

Molecular function for MUSTN1 Gene

UniProtKB/Swiss-Prot Function:
May be involved in the development and regeneration of the musculoskeletal system.

Phenotypes From GWAS Catalog for MUSTN1 Gene

Phenotypes for MUSTN1 Gene

GenomeRNAi human phenotypes for MUSTN1:
genes like me logo Genes that share phenotypes with MUSTN1: view

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for MUSTN1 Gene

Localization for MUSTN1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MUSTN1 Gene

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MUSTN1 gene
Compartment Confidence
nucleus 3

Gene Ontology (GO) - Cellular Components for MUSTN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
genes like me logo Genes that share ontologies with MUSTN1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for MUSTN1 Gene

Pathways & Interactions for MUSTN1 Gene

SuperPathways for MUSTN1 Gene

No Data Available

Interacting Proteins for MUSTN1 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
Selected Interacting proteins: Q8IVN3-MSTN1_HUMAN ENSP00000410910 for MUSTN1 Gene via IID STRING

Gene Ontology (GO) - Biological Process for MUSTN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002062 chondrocyte differentiation IEA --
GO:0035988 chondrocyte proliferation IEA --
GO:0042246 tissue regeneration IEA --
genes like me logo Genes that share ontologies with MUSTN1: view

No data available for Pathways by source and SIGNOR curated interactions for MUSTN1 Gene

Drugs & Compounds for MUSTN1 Gene

No Compound Related Data Available

Transcripts for MUSTN1 Gene

mRNA/cDNA for MUSTN1 Gene

Unigene Clusters for MUSTN1 Gene

Musculoskeletal, embryonic nuclear protein 1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for MUSTN1 Gene

No ASD Table

Relevant External Links for MUSTN1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for MUSTN1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MUSTN1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MUSTN1 Gene

This gene is overexpressed in Muscle - Skeletal (x25.1), Artery - Tibial (x6.0), and Artery - Coronary (x4.8).

Protein differential expression in normal tissues from HIPED for MUSTN1 Gene

This gene is overexpressed in Heart (34.5), Stomach (13.9), and Tonsil (7.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for MUSTN1 Gene

NURSA nuclear receptor signaling pathways regulating expression of MUSTN1 Gene:


SOURCE GeneReport for Unigene cluster for MUSTN1 Gene:


Evidence on tissue expression from TISSUES for MUSTN1 Gene

  • Liver(4.7)
  • Muscle(4.6)
  • Nervous system(4.2)
genes like me logo Genes that share expression patterns with MUSTN1: view

No data available for Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for MUSTN1 Gene

Orthologs for MUSTN1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for MUSTN1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia MUSTN1 33
  • 99.19 (n)
(Bos Taurus)
Mammalia MUSTN1 33 34
  • 91.46 (n)
(Canis familiaris)
Mammalia MUSTN1 33
  • 88.21 (n)
-- 34
  • 82 (a)
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 87 (a)
(Rattus norvegicus)
Mammalia Mustn1 33
  • 85.37 (n)
(Mus musculus)
Mammalia Mustn1 16 34 33
  • 85.37 (n)
(Gallus gallus)
Aves MUSTN1 33 34
  • 74.03 (n)
(Anolis carolinensis)
Reptilia -- 34
  • 77 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia mustn1 33
  • 68.33 (n)
(Danio rerio)
Actinopterygii mustn1a 34
  • 59 (a)
  • 59 (a)
Species where no ortholog for MUSTN1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for MUSTN1 Gene

Gene Tree for MUSTN1 (if available)
Gene Tree for MUSTN1 (if available)

Paralogs for MUSTN1 Gene

Paralogs for MUSTN1 Gene

(1) SIMAP similar genes for MUSTN1 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with MUSTN1: view

Variants for MUSTN1 Gene

Sequence variations from dbSNP and Humsavar for MUSTN1 Gene

SNP ID Clin Chr 03 pos Variation AA Info Type
rs1000090614 -- 52,834,354(-) C/T intron_variant
rs1000897041 -- 52,835,805(-) C/A upstream_transcript_variant
rs1000943366 -- 52,835,532(-) G/GG upstream_transcript_variant
rs1001091033 -- 52,835,588(-) A/G upstream_transcript_variant
rs1001891571 -- 52,834,418(-) G/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for MUSTN1 Gene

Variant ID Type Subtype PubMed ID
nsv834698 CNV gain 17160897
nsv508928 CNV insertion 20534489
esv3596163 CNV gain 21293372
esv2762328 CNV loss 21179565

Variation tolerance for MUSTN1 Gene

Residual Variation Intolerance Score: 78.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.94; 19.54% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MUSTN1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MUSTN1 Gene

Disorders for MUSTN1 Gene

Additional Disease Information for MUSTN1

No disorders were found for MUSTN1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for MUSTN1 Gene

Publications for MUSTN1 Gene

  1. Biological insights from 108 schizophrenia-associated genetic loci. (PMID: 25056061) Schizophrenia Working Group of the Psychiatric Genomics Consortium (Nature 2014) 3 58
  2. Genome-wide association analysis identifies 13 new risk loci for schizophrenia. (PMID: 23974872) Ripke S … Sullivan PF (Nature genetics 2013) 3 58
  3. Genome-wide association analyses identify 18 new loci associated with serum urate concentrations. (PMID: 23263486) Köttgen A … Gieger C (Nature genetics 2013) 3 58
  4. Biochemical and computational analysis of LNX1 interacting proteins. (PMID: 22087225) Wolting CD … McGlade CJ (PloS one 2011) 3 58
  5. Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4. (PMID: 21926972) Psychiatric GWAS Consortium Bipolar Disorder Working Group (Nature genetics 2011) 3 58

Products for MUSTN1 Gene

Sources for MUSTN1 Gene

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