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MUSTN1 Gene

protein-coding   GIFtS: 38
GCID: GC03M052877

Musculoskeletal, Embryonic Nuclear Protein 1

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Musculoskeletal, Embryonic Nuclear Protein 11 2
MUSTANG2
Musculoskeletal Embryonic Nuclear Protein 12
Musculoskeletal Temporally Activated Novel2

External Ids:    HGNC: 221441   Entrez Gene: 3891252   Ensembl: ENSG000002725737   UniProtKB: Q8IVN33   

Export aliases for MUSTN1 gene to outside databases

Previous GC identifers: GC03M052825 GC03M052842 GC03M052847


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for MUSTN1 Gene:
MUSTN1 (musculoskeletal, embryonic nuclear protein 1) is a protein-coding gene. Diseases associated with MUSTN1 include hiatus hernia, and enophthalmos.

UniProtKB/Swiss-Prot: MSTN1_HUMAN, Q8IVN3
Function: May be involved in the development and regeneration of the musculoskeletal system (By similarity)




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000003.12  NC_018914.2  NT_022517.19  
Regulatory elements:
   Regulatory transcription factor binding sites in the MUSTN1 gene promoter:
         c-Fos   AP-2alpha isoform 3   AP-1   ATF-2   AP-2alpha isoform 4   AP-2alpha isoform 2   c-Jun   AP-2alpha   AP-2alphaA   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for MUSTN1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MUSTN1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 3p21.1   Ensembl cytogenetic band:  3p21.1   HGNC cytogenetic band: 3p21.31

MUSTN1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MUSTN1 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03M052877:  view genomic region     (about GC identifiers)

Start:
52,867,130 bp from pter      End:
52,869,235 bp from pter
Size:
2,106 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: MSTN1_HUMAN, Q8IVN3 (See protein sequence)
Recommended Name: Musculoskeletal embryonic nuclear protein 1  
Size: 82 amino acids; 8911 Da

Explore the universe of human proteins at neXtProt for MUSTN1: NX_Q8IVN3

Explore proteomics data for MUSTN1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See MUSTN1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_995325.3  
    ENSEMBL proteins: 
     ENSP00000419877   ENSP00000410910  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    ProtoNet protein and cluster: Q8IVN3

    UniProtKB/Swiss-Prot: MSTN1_HUMAN, Q8IVN3
    Similarity: Belongs to the MUSTANG family


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MSTN1_HUMAN, Q8IVN3
    Function: May be involved in the development and regeneration of the musculoskeletal system (By similarity)

    Animal Models:

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    MSTN1_HUMAN, Q8IVN3: Nucleus (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus3
    extracellular1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--
    GO:0005654nucleoplasm ----

    MUSTN1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for MUSTN1
    Interactions:

        Search GeneGlobe Interaction Network for MUSTN1

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0030326embryonic limb morphogenesis ----
    GO:0042246tissue regeneration ----

    MUSTN1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for MUSTN1 (MSTN1)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for MUSTN1 gene: 
    NM_205853.3  

    Unigene Cluster for MUSTN1:

    Musculoskeletal, embryonic nuclear protein 1
    Hs.556077  [show with all ESTs]
    Unigene Representative Sequence: AK310752
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000486659 ENST00000446157
    miRNA
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    hsa-miR-3153
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    Inhib. RNA
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    Additional mRNA sequence: 

    AJ276556.1 AK309031.1 AK310752.1 BC130550.1 BC130552.1 

    10 DOTS entries:

    DT.442833  DT.100663232  DT.87046416  DT.308879  DT.99962947  DT.120911847  DT.120911849  DT.99965868 
    DT.40280441  DT.95191247 

    Selected AceView cDNA sequences (see all 428):

    CR625639 AV647813 BI966873 AV648742 CB163884 AI962765 BI963802 AA346122 
    BE909286 BM802543 AA723367 AL557947 CD614258 CR603484 F27979 NM_002218 
    H96309 AV647796 CB161586 AV653979 CR614295 CB154334 CR591457 CB155974 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    MUSTN1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CGAGAGTGTG
    MUSTN1 Expression
    About this image

    MUSTN1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MUSTN1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.556077
        Custom PCR Arrays for MUSTN1
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MUSTN1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for MUSTN1 gene from Selected species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mustn11 , 5 musculoskeletal, embryonic nuclear protein 11, 5 85.37(n)1
    85.37(a)1
      14 (19.09 cM)5
    661751  NM_181390.31  NP_852055.11 
     308792575 
    chicken
    (Gallus gallus)
    Aves MUSTN11 musculoskeletal, embryonic nuclear protein 1 74.03(n)
    80.52(a)
      404773  NM_213580.2  NP_998745.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    77(a)
    1 → many
    2(155052393-155054672)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia mustn11 musculoskeletal, embryonic nuclear protein 1 68.33(n)
    70(a)
      100127630  NM_001171656.1  NP_001165127.1 
    zebrafish
    (Danio rerio)
    Actinopterygii mustn1a6
    MUSTN16
    musculoskeletal, embryonic nuclear protein 1a
    musculoskeletal, embryonic nuclear protein 1 (must...
    59(a)
    59(a)
    many ↔ many
    many ↔ many
    6(40772020-40773632) ENSDARG00000054026
    11(18595202-18598138) ENSDARG00000089086


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for MUSTN1 gene
    1 SIMAP similar gene for MUSTN1 using alignment to 2 protein entries:     MSTN1_HUMAN (see all proteins):
    TMEM110-MUSTN1

    MUSTN1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for MUSTN1 (see all 98)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1389599051,2
    C--52798994(+) TGCAG-/TGCAGG 1 -- int10--------
    rs113139231,2
    C--52799042(+) AGGGGT/-TTTTG 1 -- int11Minor allele frequency- -:0.00NA 2
    rs119155461,2
    C,F,H--52799120(+) AGGAGC/AGGTGG 1 -- int17Minor allele frequency- A:0.48NA CSA WA EA 366
    rs796641401,2
    C,F--52799211(+) GTAGTA/GTAAAA 1 -- int13Minor allele frequency- G:0.10CSA NA EA 242
    rs96810891,2
    C,F,H--52799263(+) CACTGG/AGTCTC 1 -- int121Minor allele frequency- A:0.19EA NS NA CSA WA 2118
    rs1178823081,2
    F--52799310(+) CACCTG/ATGCTA 1 -- int11Minor allele frequency- A:0.02EA 120
    rs1509150831,2
    C--52799351(+) CCATGC/TTCCCA 1 -- int10--------
    rs1136219411,2
    C,F--52799495(+) CTGTGG/AGGGAG 1 -- ut311Minor allele frequency- A:0.03NA 120
    rs46876611,2
    C,F,A,H--52799563(+) CTGGGT/AAAGGC 1 -- ut3111Minor allele frequency- A:0.07NA CSA WA EA EU 922
    rs1124219161,2
    C--52799573(+) CTCCTG/CTTTCC 1 -- ut311Minor allele frequency- C:0.50CSA 2

    HapMap Linkage Disequilibrium report for MUSTN1 (52867130 - 52869235 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for MUSTN1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv508928CNV Insertion20534489
    nsv876797CNV Loss21882294
    nsv834698CNV Gain17160897

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    4 diseases for MUSTN1:    
    About MalaCards
    hiatus hernia    enophthalmos    methemoglobinemia    bipolar disorder

    1 disease from the University of Copenhagen DISEASES database for MUSTN1:
    Enophthalmos

    MUSTN1 for disorders           About GeneDecksing


    Export disorders for MUSTN1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for MUSTN1 gene, integrated from 10 sources (see all 11):
    (articles sorted by number of sources associating them with MUSTN1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Genome-wide association analysis identifies 13 new risk loci for schizophrenia. (PubMed id 23974872)1 Ripke S....Sullivan P.F. (Nat. Genet. 2013)
    2. Genome-wide association analyses identify 18 new loci associated with serum urate concentrations. (PubMed id 23263486)1 KAPttgen A....Gieger C. (Nat. Genet. 2013)
    3. Biochemical and computational analysis of LNX1 interacting proteins. (PubMed id 22087225)1 Wolting C.D....McGlade C.J. (PLoS ONE 2011)
    4. Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4. (PubMed id 21926972)1 (Nat. Genet. 2011)
    5. Gene expression responses over 24 h to lengthening and shortening contractions in human muscle: major changes in CSRP3, MUSTN1, SIX1, and FBXO32. (PubMed id 17519359)1 Kostek M.C....Rennie M.J. (Physiol. Genomics 2007)
    6. The DNA sequence, annotation and analysis of human chromosome 3. (PubMed id 16641997)2 Muzny D.M....Gibbs R.A. (Nature 2006)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    8. Molecular cloning and characterization of Mustang, a novel nuclear protein expressed during skeletal development and regeneration. (PubMed id 14718386)1 Lombardo F....Hadjiargyrou M. (FASEB J. 2004)
    9. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    10. (PubMed id )2 

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 389125 HGNC: 22144 AceView: ITIH4andMGC52022andMUSTN1 Ensembl:ENSG00000272573 euGenes: HUgn389125
    ECgene: MUSTN1 H-InvDB: MUSTN1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for MUSTN1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for MUSTN1 gene:
    Search GeneIP for patents involving MUSTN1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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     OriGene ORF clones in mouse, rat for MUSTN1   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for MUSTN1   OriGene Custom Protein Services for MUSTN1  

     
     
     Block miRNA regulation of human, mouse, rat MUSTN1 using miScript Target Protectors SeqTarget long-range PCR primers for resequencing MUSTN1
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MUSTN1 Predesigned siRNA for gene silencing in human, mouse, rat MUSTN1
     QuantiFast Probe-based Assays in human, mouse, rat MUSTN1 QuantiTect SYBR Green Assays in human, mouse, rat MUSTN1
     Custom PCR Arrays for MUSTN1 Search Chromatin IP Primers for MUSTN1
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     Regulatory tfbs in MUSTN1 promoter
     GenScript Custom Purified and Recombinant Proteins Services for MUSTN1 GenScript cDNA clones with any tag delivered in your preferred vector for MUSTN1
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     Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
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     Search for Antibodies & Assays

     Search Tocris compounds for MUSTN1 (MSTN1)
     Browse Sino Biological Proteins
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     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Biologicals
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     Search for Antibodies for MUSTN1 at Abcam
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     Search ThermoFisher Antibodies for MUSTN1
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MUSTN1
     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for MUSTN1
     inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for MUSTN1
     Search LSBio for Antibodies for MUSTN1
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    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

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