Aliases for MUSTN1 Gene

Aliases for MUSTN1 Gene

  • Musculoskeletal, Embryonic Nuclear Protein 1 2 3 5
  • Musculoskeletal Embryonic Nuclear Protein 1 3 4
  • Musculoskeletal Temporally Activated Novel 3
  • MUSTANG 3
  • Mustang 2
  • MUSTN1 5

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. Diseases associated with MUSTN1 include Pulp Degeneration and Lacrimal System Cancer. An important paralog of this gene is ENSG00000243696.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification and piRNA Summary for MUSTN1 Gene

Genomics for MUSTN1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for MUSTN1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MUSTN1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MUSTN1

Top Transcription factor binding sites by QIAGEN in the MUSTN1 gene promoter:
  • AP-1
  • AP-2alpha
  • AP-2alpha isoform 2
  • AP-2alpha isoform 3
  • AP-2alpha isoform 4
  • AP-2alphaA
  • ATF-2
  • c-Fos
  • c-Jun

Genomic Locations for MUSTN1 Gene

Genomic Locations for MUSTN1 Gene
chr3:52,833,114-52,835,019
(GRCh38/hg38)
Size:
1,906 bases
Orientation:
Minus strand
chr3:52,867,130-52,869,235
(GRCh37/hg19)
Size:
2,106 bases
Orientation:
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:
    Q8IVN3-MSTN1_HUMAN
    Recommended name:
    Musculoskeletal embryonic nuclear protein 1
    Protein Accession:
    Q8IVN3

    Protein attributes for MUSTN1 Gene

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

neXtProt entry for MUSTN1 Gene

Post-translational modifications for MUSTN1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

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

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MUSTN1 Gene

GenScript: Design optimal peptide antigens:
  • Musculoskeletal embryonic nuclear protein 1 (MSTN1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8IVN3

UniProtKB/Swiss-Prot:

MSTN1_HUMAN :
  • Belongs to the MUSTANG family.
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

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

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MUSTN1

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

COMPARTMENTS
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 4
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
endosome 1
cytosol 1
golgi apparatus 1

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

PathCards logo

SuperPathways for MUSTN1 Gene

No Data Available

Interacting Proteins for MUSTN1 Gene

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

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

1 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MUSTN1

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

No ASD Table

Relevant External Links for MUSTN1 Gene

GeneLoc Exon Structure for
MUSTN1

Expression for MUSTN1 Gene

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



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MUSTN1

SOURCE GeneReport for Unigene cluster for MUSTN1 Gene:

Hs.556077

Evidence on tissue expression from TISSUES for MUSTN1 Gene

  • Liver(4.8)
  • Muscle(4.7)
  • Nervous system(4.4)
  • Heart(2.5)
  • Kidney(2.3)
  • Blood(2.3)
  • Skin(2.2)
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
Chimpanzee
(Pan troglodytes)
Mammalia MUSTN1 30
  • 99.19 (n)
Cow
(Bos Taurus)
Mammalia MUSTN1 30 31
  • 91.46 (n)
OneToMany
Dog
(Canis familiaris)
Mammalia MUSTN1 30
  • 88.21 (n)
-- 31
  • 82 (a)
OneToMany
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 87 (a)
OneToMany
Rat
(Rattus norvegicus)
Mammalia Mustn1 30
  • 85.37 (n)
Mouse
(Mus musculus)
Mammalia Mustn1 30 17 31
  • 85.37 (n)
OneToMany
Chicken
(Gallus gallus)
Aves MUSTN1 30 31
  • 74.03 (n)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 77 (a)
OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia mustn1 30
  • 68.33 (n)
Zebrafish
(Danio rerio)
Actinopterygii mustn1a 31
  • 59 (a)
ManyToMany
MUSTN1 31
  • 59 (a)
ManyToMany
Species where no ortholog for MUSTN1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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

ENSEMBL:
Gene Tree for MUSTN1 (if available)
TreeFam:
Gene Tree for MUSTN1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MUSTN1: view image

Paralogs for MUSTN1 Gene

Paralogs for MUSTN1 Gene

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

  • MSTN1_HUMAN
  • C9JYJ2_HUMAN
genes like me logo Genes that share paralogs with MUSTN1: view

Variants for MUSTN1 Gene

Additional dbSNP identifiers (rs#s) for MUSTN1 Gene

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

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

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
MUSTN1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MUSTN1 Gene

Disorders for MUSTN1 Gene

MalaCards: The human disease database

(5) MalaCards diseases for MUSTN1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
pulp degeneration
lacrimal system cancer
  • lacrimal system neoplasm
anthracosilicosis
subclavian steal syndrome
  • subclavian artery stenosis
branchiootorenal syndrome 2
  • bor2
- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with MUSTN1: view

No data available for 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
  2. Genome-wide association analyses identify 18 new loci associated with serum urate concentrations. (PMID: 23263486) Köttgen A … Gieger C (Nature genetics 2013) 3
  3. Genome-wide association analysis identifies 13 new risk loci for schizophrenia. (PMID: 23974872) Ripke S … Sullivan PF (Nature genetics 2013) 3
  4. 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
  5. Biochemical and computational analysis of LNX1 interacting proteins. (PMID: 22087225) Wolting CD … McGlade CJ (PloS one 2011) 3

Products for MUSTN1 Gene

Sources for MUSTN1 Gene