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MYOZ1 Gene

protein-coding   GIFtS: 50
GCID: GC10M075391

Myozenin 1

(Previous name: myozenin)
(Previous symbol: MYOZ)
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(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
Myozenin 11 2     CS-22
MYOZ1 2 3     FATZ2
calsarcin-21 2     myozenin-12
Filamin-, Actinin- And Telethonin-Binding Protein2 3     Calsarcin-23
myozenin1     Protein FATZ3

External Ids:    HGNC: 137521   Entrez Gene: 585292   Ensembl: ENSG000001777917   OMIM: 6056035   UniProtKB: Q9NP983   

Export aliases for MYOZ1 gene to outside databases

Previous GC identifers: GC10M074170 GC10M074494 GC10M075283 GC10M074736 GC10M075061 GC10M069384


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for MYOZ1 Gene:
The protein encoded by this gene is primarily expressed in the skeletal muscle, and belongs to the myozenin
family. Members of this family function as calcineurin-interacting proteins that help tether calcineurin to the
sarcomere of cardiac and skeletal muscle. They play an important role in modulation of calcineurin signaling.
(provided by RefSeq, Apr 2012)

GeneCards Summary for MYOZ1 Gene:
MYOZ1 (myozenin 1) is a protein-coding gene. GO annotations related to this gene include FATZ binding. An important paralog of this gene is MYOZ3.

UniProtKB/Swiss-Prot: MYOZ1_HUMAN, Q9NP98
Function: Myozenins may serve as intracellular binding proteins involved in linking Z-disk proteins such as
alpha-actinin, gamma-filamin, TCAP/telethonin, LDB3/ZASP and localizing calcineurin signaling to the sarcomere.
Plays an important role in the modulation of calcineurin signaling. May play a role in myofibrillogenesis

Gene Wiki entry for MYOZ1 Gene


(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 at NCBI GenBank:
NC_000010.10  NC_018921.2  NT_030059.14  
Regulatory elements:
   Regulatory transcription factor binding sites in the MYOZ1 gene promoter:
         SRF   ISGF-3   AML1a   SRF (504 AA)   Ik-3   Tal-1beta   PPAR-alpha   ITF-2   Zic3   LyF-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMYOZ1 promoter sequence
   Search Chromatin IP Primers for MYOZ1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MYOZ1


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

Entrez Gene cytogenetic band: 10q22.1   Ensembl cytogenetic band:  10q22.2   HGNC cytogenetic band: 10q22.1

MYOZ1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MYOZ1 gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10M075391:  view genomic region     (about GC identifiers)

Start:
75,391,412 bp from pter      End:
75,401,515 bp from pter
Size:
10,104 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: MYOZ1_HUMAN, Q9NP98 (See protein sequence)
Recommended Name: Myozenin-1  
Size: 299 amino acids; 31745 Da
Subunit: Interacts with ACTN2, ACTN3, FLNA, FLNB, FLNC, LDB3, PPP3CA and TCAP. Interacts via its C-terminal region
with MYOT
Secondary accessions: Q9H1I7

Explore the universe of human proteins at neXtProt for MYOZ1: NX_Q9NP98

Explore proteomics data for MYOZ1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See MYOZ1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_067068.1  
    ENSEMBL proteins: 
     ENSP00000352272  

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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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    1 InterPro protein domain:
     IPR008438 MYOZ

    Graphical View of Domain Structure for InterPro Entry Q9NP98

    ProtoNet protein and cluster: Q9NP98

    UniProtKB/Swiss-Prot: MYOZ1_HUMAN, Q9NP98
    Similarity: Belongs to the myozenin family


    Find genes that share domains with MYOZ1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MYOZ1_HUMAN, Q9NP98
    Function: Myozenins may serve as intracellular binding proteins involved in linking Z-disk proteins such as
    alpha-actinin, gamma-filamin, TCAP/telethonin, LDB3/ZASP and localizing calcineurin signaling to the sarcomere.
    Plays an important role in the modulation of calcineurin signaling. May play a role in myofibrillogenesis

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI10427098
    GO:0051373FATZ binding IDA10984498
         
    Find genes that share ontologies with MYOZ1           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for MYOZ1:
     Increased cell number in G2M,   Increased gamma-H2AX phosphory 

         3 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Myoz1):
     growth/size/body  homeostasis/metabolism  muscle 

    Find genes that share phenotypes with MYOZ1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Myoz1tm1Eno for MYOZ1

       genOway: Develop your customized and physiologically relevant rodent model for MYOZ1

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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
    MYOZ1_HUMAN, Q9NP98: Nucleus. Cell projection, pseudopodium. Note=Localized to the nucleus and pseudopodia of
    undifferentiated cells and detected throughout the myotubes of differentiated cells. Colocalizes with ACTN2, FLNC
    and MYOT at the Z-lines of skeletal muscle
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytoskeleton2
    cytosol1
    mitochondrion1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--
    GO:0015629actin cytoskeleton IEA--
    GO:0031143pseudopodium IEA--

    Find genes that share ontologies with MYOZ1           About GenesLikeMe


    (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 MYOZ1
    Interactions:

        GeneGlobe Interaction Network for MYOZ1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 13)

    Selected Interacting proteins for MYOZ1 (Q9NP981, 2, 3 ENSP000003522724) via UniProtKB, MINT, STRING, and/or I2D (see all 15)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TRIM63Q969Q11, 2, 3, ENSP000003633904EBI-744402,EBI-5661333 MINT-6492252 MINT-6503670 I2D: score=1 STRING: ENSP00000363390
    ACTN2P356092, 3, ENSP000003555374MINT-49879 MINT-49880 I2D: score=4 STRING: ENSP00000355537
    ACTN4O437072, 3, ENSP000002526994MINT-68245 I2D: score=5 STRING: ENSP00000252699
    FLNCQ143152, 3, ENSP000003271454MINT-49882 MINT-49883 I2D: score=4 STRING: ENSP00000327145
    ACTN1P128142, 3, ENSP000003779414MINT-68434 I2D: score=4 STRING: ENSP00000377941
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    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0030239myofibril assembly TAS11114196

    Find genes that share ontologies with MYOZ1           About GenesLikeMe



    (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
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    Browse Tocris compounds for MYOZ1

    1 Novoseek inferred chemical compound relationship for MYOZ1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    calcium 0 1 11842093 (1)



    Find genes that share compounds with MYOZ1           About GenesLikeMe



    (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,
    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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for MYOZ1 gene: 
    NM_021245.3  

    Unigene Cluster for MYOZ1:

    Myozenin 1
    Hs.238756  [show with all ESTs]
    Unigene Representative Sequence: BC025753
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000359322(uc001jur.3)
    miRNA
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    hsa-miR-1243 hsa-miR-943
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      QuantiTect SYBR Green Assays in human, mouse, rat MYOZ1
      QuantiFast Probe-based Assays in human, mouse, rat MYOZ1

    Additional mRNA sequence: 

    AF240633.1 AJ278124.1 AK300683.1 AK308200.1 AL359210.1 AY013297.1 BC025753.1 

    2 DOTS entries:

    DT.317489  DT.95170289 

    Selected AceView cDNA sequences (see all 175):

    AI079351 F32664 F29752 F18690 F18384 NM_021245 F27555 F37950 
    BM709105 F18203 AI972884 F27115 F29197 AJ571761 AA195156 BM705076 
    AI239513 F22184 F29985 AA346123 AJ571772 F31958 F25220 F18738 

    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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    MYOZ1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ACCTTCCAGA
    MYOZ1 Expression
    About this image


    MYOZ1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Heart (Cardiovascular System)
             Atrioventricular Canal Cells Atrioventricular Canal
     
     Esophagus (Gastrointestinal Tract)
     
     Skeletal Muscle (Muscoskeletal System)
    MYOZ1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MYOZ1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.238756

    UniProtKB/Swiss-Prot: MYOZ1_HUMAN, Q9NP98
    Tissue specificity: Expressed primarily in skeletal muscle. Detected at lower levels in heart, prostate and
    pancreas

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    (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 MYOZ1 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Myoz11 , 5 myozenin 11, 5 90.65(n)1
    91.55(a)1
      14 (11.53 cM)5
    590111  NM_021508.31  NP_067483.11 
     206491025 
    chicken
    (Gallus gallus)
    Aves MYOZ11 myozenin 1 63.1(n)
    60.34(a)
      423744  XM_421619.4  XP_421619.3 
    lizard
    (Anolis carolinensis)
    Reptilia MYOZ16
    myozenin 1
    57(a)
    1 ↔ 1
    GL343196.1(1045409-1105193)
    African clawed frog
    (Xenopus laevis)
    Amphibia myoz1-prov2 myozenin 1 75.81(n)    BC054224.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.270232 Transcribed sequence with weak similarity to protein more 74.59(n)    CF348060.1 


    ENSEMBL Gene Tree for MYOZ1 (if available)
    TreeFam Gene Tree for MYOZ1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for MYOZ1 gene
    MYOZ32  MYOZ22  

    Find genes that share paralogs with MYOZ1           About GenesLikeMe



    (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 MYOZ1 (see all 277)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs349528681,2
    C--75396220(+) TTTTA-/TTTTTT 1 -- int11Minor allele frequency- T:0.00CSA 2
    rs568016101,2
    C--75398051(+) ATGCCAT/-ATATA 1 -- int11Minor allele frequency- -:0.50CSA 2
    rs1134789191,2
    F--75398426(+) TTTATG/TTATTT 1 -- int11Minor allele frequency- T:0.50CSA 2
    rs1822923291,2
    C--75763909(+) CTGGCA/GTACTA 1 -- ds50010--------
    rs1880345411,2
    --75763977(+) TTCATC/TCTTTT 1 -- ds50010--------
    rs1470849531,2
    --75764072(+) AATCAA/GGATAA 1 -- ds50010--------
    rs1923721621,2
    --75764153(+) CAACTA/GCGGTG 1 -- ds50010--------
    rs70804361,2
    C,F,A,H--75764188(+) ACATTT/CGGGCC 1 -- ds500122Minor allele frequency- C:0.22NS EA NA CSA WA 2475
    rs1830854301,2
    --75764197(+) CCGGCA/GCATGT 1 -- ds50010--------
    rs1384977621,2
    C--75764207(+) TGTTTA/GTGCGT 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for MYOZ1 (75391412 - 75401515 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for MYOZ1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv7143CNV Loss18451855

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing MYOZ1
    DNA2.0 Custom Variant and Variant Library Synthesis for MYOZ1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 605603    OMIM disorders: --


    Find genes that share disorders with MYOZ1           About GenesLikeMe

    1 Novoseek inferred disease relationship for MYOZ1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    myopathy 53.1 1 19047374 (1)

    Genetic Association Database (GAD): MYOZ1
    Human Genome Epidemiology (HuGE) Navigator: MYOZ1 (1 document)

    Export disorders for MYOZ1 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 MYOZ1 gene, integrated from 10 sources (see all 25):
    (articles sorted by number of sources associating them with MYOZ1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Myozenin: an alpha-actinin- and gamma-filamin-binding protein of skeletal muscle Z lines. (PubMed id 11171996)1, 2, 3, 9 Takada F.... Beggs A.H. (Proc. Natl. Acad. Sci. U.S.A. 2001)
    2. FATZ, a filamin-, actinin-, and telethonin-binding protein of the Z- disc of skeletal muscle. (PubMed id 10984498)1, 2, 3 Faulkner G.... Lanfranchi G. (J. Biol. Chem. 2000)
    3. The Z-disc proteins myotilin and FATZ-1 interact with each other and are connected to the sarcolemma via muscle-specific filamins. (PubMed id 16076904)1, 2, 9 Gontier Y.... Borradori L. (J. Cell Sci. 2005)
    4. Calsarcin-3, a novel skeletal muscle-specific member of the calsarcin family, interacts with multiple Z-disc proteins. (PubMed id 11842093)1, 2, 9 Frey N. and Olson E.N. (J. Biol. Chem. 2002)
    5. Calsarcins, a novel family of sarcomeric calcineurin-binding proteins. (PubMed id 11114196)1, 2, 9 Frey N.... Olson E.N. (Proc. Natl. Acad. Sci. U.S.A. 2000)
    6. Candidate-gene testing for orphan limb-girdle muscular dystrophies. (PubMed id 19472918)1, 4, 9 Aurino S....Nigro V. (Acta Myol 2008)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    8. Mutations in PDLIM3 and MYOZ1 encoding myocyte Z line proteins are infrequently found in idiopathic dilated cardiomyopathy. (PubMed id 17254821)1, 9 Arola A.M....Bowles N.E. (Mol. Genet. Metab. 2007)
    9. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (J. Biol. Chem. 2011)
    10. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (amp 2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 58529 HGNC: 13752 AceView: MYOZ1 Ensembl:ENSG00000177791 euGenes: HUgn58529
    ECgene: MYOZ1 H-InvDB: MYOZ1

    (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 MYOZ1 Pharmacogenomics, SNPs, Pathways

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