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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

MUSTN1 Gene

protein-coding   GIFtS: 38
GCID: GC03M052847

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)
About This Section

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: ENSG000002436967   UniProtKB: Q8IVN33   

Export aliases for MUSTN1 gene to outside databases

Previous GC identifers: GC03M052825 GC03M052842


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000003.11  NC_018914.2  NT_022517.18  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for MUSTN1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 GC03M052847:  view genomic region     (about GC identifiers)

Start:
52,847,298 bp from pter      End:
52,869,745 bp from pter
Size:
22,448 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: MSTN1_HUMAN, Q8IVN3 (See protein sequence)
Recommended Name: Musculoskeletal embryonic nuclear protein 1  
Size: 82 amino acids; 8911 Da
Subcellular location: Nucleus (By similarity)

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

Explore proteomics data for MUSTN1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8IVN3

  • MUSTN1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    MUSTN1 Protein Expression
    REFSEQ proteins: NP_995325.3  
    ENSEMBL proteins: 
     ENSP00000422253   ENSP00000421186   ENSP00000419877   ENSP00000410910  

    Human Recombinant Protein Products for MUSTN1: 
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    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

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

    MUSTN1 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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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    Inhib. RNA
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    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section




    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for MUSTN1

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0030326embryonic limb morphogenesis IEA--
    GO:0042060wound healing ----
    GO:0042246tissue regeneration IEA--

    MUSTN1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for MUSTN1 (MSTN1)

    Search CenterWatch for drugs/clinical trials and news about 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000468472 ENST00000513520(uc010hmq.1) ENST00000486659 ENST00000446157

    miRNA
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    1 QIAGEN miScript miRNA Assays for microRNA that regulate MUSTN1:
    hsa-miR-3153
    SwitchGear 3'UTR luciferase reporter plasmidMUSTN1 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
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    Clone
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MUSTN1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MUSTN1
    Sirion Biotech Customized lentivirus for stable overexpression of MUSTN1 
                         Customized lentivirus expression plasmids for stable overexpression of MUSTN1 
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for MUSTN1
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat MUSTN1
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MUSTN1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MUSTN1

    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 

    24/428 AceView cDNA sequences (see all 428):

    BE909286 CR591457 CB161586 AV653979 AI962765 AV654981 BM802543 AV647813 
    F27979 CD614258 BI963802 AA346122 H96309 CB155974 CR625639 AV648742 
    CR614295 CR603484 CB163884 CB154334 NM_002218 BI966873 BF969985 AV647796 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    MUSTN1 expression in normal human tissues (normalized intensities)      MUSTN1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CGAGAGTGTG
    MUSTN1 Expression
    About this image


    MUSTN1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/1 selected tissues (see all 1) fully expand
     
     Gut Tube (Gastrointestinal Tract)
             Primitive gut tube-like cells ( A scalable, suspension protocol for derivation of...

    See MUSTN1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MUSTN1

    SOURCE GeneReport for Unigene cluster: Hs.556077
        SABiosciences Custom PCR Arrays for MUSTN1
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for MUSTN1
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MUSTN1
    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)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for MUSTN1 gene from 4/8 species (see all 8)    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_213580.1  NP_998745.1 
    lizard
    (Anolis carolinensis)
    Reptilia MUSTN16
    Uncharacterized protein
    77(a)
    1 ↔ 1
    2(155052393-155054672)
    zebrafish
    (Danio rerio)
    Actinopterygii CR847954.16
    MUSTN16
    musculoskeletal, embryonic nuclear protein 1
    64(a)
    60(a)
    many → 1
    many → 1
    6(40772134-40773355)
    11(18595202-18598138)


    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)
    About This Section
    Paralogs for MUSTN1 gene
    1 SIMAP similar gene for MUSTN1 using alignment to 4 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/98 SNPs in MUSTN1 are shown (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 (52847298 - 52869745 bp)

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

    SABiosciences Cancer Mutation 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.)
    About This Section
    4 diseases for MUSTN1:    About MalaCards
    hiatus hernia    enophthalmos    methemoglobinemia    hernia

    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)
    About This Section

    PubMed articles for MUSTN1 gene integrated from 9 sources:
    (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 analyses identify 18 new loci associated with serum urate concentrations. (PubMed id 23263486)1 Kottgen A....Gieger C. (2013)
    2. Biochemical and computational analysis of LNX1 interac ting proteins. (PubMed id 22087225)1 Wolting C.D....McGlade C.J. (2011)
    3. Large-scale genome-wide association analysis of bipol ar disorder identifies a new susceptibility locus near ODZ4. (PubMed id 21926972)1 Sklar P....Purcell S.M. (2011)
    4. 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. (2007)
    5. The DNA sequence, annotation and analysis of human chromosome 3. (PubMed id 16641997)2 Muzny D.M....Gibbs R.A. (2006)
    6. 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. (2004)
    7. Molecular cloning and characterization of Mustang, a novel nuclear protein expressed during skeletal development and regeneration. (PubMed id 14718386)1 Lombardo F....Hadjiargyrou M. (2004)
    8. 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. (2002)
    9. Hepatitis C virus core protein interacts with 14-3-3 protein and activates the kinase Raf-1. (PubMed id )2 Aoki H.... Hino O. (2000)
    10. Silencing of Mustn1 inhibits myogenic fusion and diff erentiation. (PubMed id 20130207)9 Liu C....Hadjiargyrou M. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 389125 HGNC: 22144 AceView: ITIH4andMGC52022andMUSTN1 Ensembl:ENSG00000243696 euGenes: HUgn389125
    ECgene: MUSTN1 H-InvDB: MUSTN1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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.)
    About This Section
    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


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