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

MYOZ1 Gene

protein-coding   GIFtS: 50
GCID: GC10M075391

myozenin 1

(Previous name: myozenin )
(Previous symbol: MYOZ)
 Explore 5 diseases affiliated with
MYOZ1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for MYOZ1    

Aliases
for MYOZ1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Myozenin 11 2     Myozenin1
MYOZ1 2 3     Calsarcin-23
CS-21 2     Myozenin-11
FATZ1 2     Calsarcin-23
Filamin-, Actinin- And Telethonin-Binding Protein2 3     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


Summaries
for MYOZ1 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for MYOZ1:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000010.10  NC_018921.1  NT_030059.13  
Regulatory elements:
   SABiosciences 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 plasmid: MYOZ1 promoter sequence
   Search SABiosciences Chromatin IP Primers for MYOZ1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for MYOZ1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
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
Subcellular location: 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
Secondary accessions: Q9H1I7

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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9NP98

    • MYOZ1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_067068.1  
    ENSEMBL proteins: 
     ENSP00000352272  

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    Uscn Proteins for MYOZ1

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

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


    MYOZ1 for ontologies           About GeneDecksing



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    Protein Domains /
    Families
    for MYOZ1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    MYOZ1 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR008438 Calsarcin-bd

    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


    Function
    for MYOZ1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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

    miRNA
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    Inhib. RNA
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    Clone
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    In Situ Assay
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    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI10984498
    GO:0051373FATZ binding IDA10984498


    MYOZ1 for ontologies           About GeneDecksing


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

    Animal Models:
         Mouse knock-out Myoz1tm1Eno for MYOZ1
         4 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Myoz1):
     behavior/neurological  growth/size  homeostasis/metabolism  muscle 

    MYOZ1 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for MYOZ1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for MYOZ1

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

    5/15 Interacting proteins for MYOZ1 (Q9NP982, 3 ENSP000003522724) via UniProtKB, MINT, STRING, and/or I2D (see all 15)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ACTN2P356092, 3, ENSP000003555374MINT-49879 MINT-49880 I2D: score=4 STRING: ENSP00000355537
    TRIM63Q969Q12, 3, ENSP000003633904MINT-6492252 MINT-6503670 I2D: score=1 STRING: ENSP00000363390
    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
    About this table

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0030239myofibril assembly TAS11114196


    MYOZ1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for MYOZ1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    MYOZ1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for MYOZ1
    1 Novoseek 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)

    Search CenterWatch for drugs/clinical trials and news about MYOZ1 

    Transcripts
    for MYOZ1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    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, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for MYOZ1 gene: 
    NM_021245.3  

    Unigene Cluster for MYOZ1:

    Myozenin 1
    Hs.238756  [show with all ESTs]
    Unigene Representative Sequence: BC025753
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000359322(uc001jur.3) ENST00000466008

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    hsa-miR-1243 hsa-miR-943
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    Inhib. RNA
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    Clone
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    Additional cDNA sequence: 

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

    2 DOTS entries:

    DT.317489  DT.95170289 

    24/175 AceView cDNA sequences (see all 175):

    BQ067112 AI079351 AJ571761 AI139677 AI239513 AA346210 AJ571772 AI972884 
    F27115 F19551 F29752 F31958 F27555 F32664 AF240633 F37950 
    F18203 F34796 F22184 F18690 BC025753 F25220 BM705076 F18738 

    GeneLoc Exon Structure


    Expression
    for MYOZ1 gene

    (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

    MYOZ1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: ACCTTCCAGA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    MYOZ1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    4 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    HeartAtrioventricular CanalAtrioventricular Canal CellsMyocardium
    Skeletal MuscleHyoid Arch MusclesMononuclear MyocytesSkeletal Muscle
    Skeletal MuscleMandibular Arch MusclesMononuclear MyocytesSkeletal Muscle
    AdiposeInterscapular Brown Adipose DepotAdipose
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See MYOZ1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MYOZ1

    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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    In Situ
    Assay Products:     
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    Orthologs
    for MYOZ1 gene

    (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 MYOZ1 gene from 4/12 species (see all 12)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves MYOZ11 myozenin 1 63.65(n)
    60.98(a)    		   423744  XM_421619.3  XP_421619.2 
    lizard
    (Anolis carolinensis)    		 Reptilia MYOZ16
    		 --
    		 59(a)
    		 1 ↔ 1
    		 GL343196.1(1045834-1078031)
    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
    for MYOZ1 gene

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

    MYOZ1 for paralogs           About GeneDecksing



    Genomic Variants
    for MYOZ1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/227 NCBI SNPs in MYOZ1 are shown (see all 227)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 10 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1822923291,2
    		--75390899(+) CTGGCA/GTACTA 1 -- ds50010--------
    rs1880345411,2
    		--75390967(+) TTCATC/TCTTTT 1 -- ds50010--------
    rs1470849531,2
    		--75391062(+) AATCAA/GGATAA 1 -- ds50010--------
    rs1923721621,2
    		--75391143(+) CAACTA/GCGGTG 1 -- ds50010--------
    rs70804361,2
    		C,F,A,H,--75391178(+) ACATTT/CGGGCC 1 -- ds500122Minor allele frequency- C:0.22NS EA NA CSA WA 2475
    rs1830854301,2
    		--75391187(+) CCGGCA/GCATGT 1 -- ds50010--------
    rs1384977621,2
    		--75391197(+) TGTTTA/GTGCGT 1 -- ds50010--------
    rs70804561,2
    		C,F,H,--75391217(+) TCTCAT/GGTACT 1 -- ds500119Minor allele frequency- G:0.21NS EA NA CSA WA 2344
    rs1440924251,2
    		--75391281(+) GTAGGC/TGTGTA 1 -- ds50010--------
    rs1469157371,2
    		--75391409(+) AGAATG/TAGTTC 1 -- ut310--------

    HapMap Linkage Disequilibrium report for MYOZ1 (75391412 - 75401515 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for MYOZ1
         1 CNV: 34891

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    Disorders / Diseases
    for MYOZ1 gene

    (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.)
    About This Section
    MYOZ1 for disorders           About GeneDecksing

    OMIM gene information: 605603    OMIM disorders: --

    5 diseases for MYOZ1:    About MalaCards
    familial dilated cardiomyopathy    dilated cardiomyopathy    cardiomyopathy    myopathy
    prostatitis

    1 Novoseek 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)

    Human Genome Epidemiology (HuGE) Navigator: MYOZ1 (1 document)

    Export disorders for MYOZ1 gene to outside databases

    Publications
    for MYOZ1 gene

    (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 MYOZ1 gene, integrated from 9 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. (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. (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. (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. (2002)
    5. Calsarcins, a novel family of sarcomeric calcineurin-binding proteins. (PubMed id 11114196)1, 2, 9 Frey N.... Olson E.N. (2000)
    6. 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. (2004)
    7. 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. (2007)
    8. Candidate-gene testing for orphan limb-girdle muscula r dystrophies. (PubMed id 19472918)1, 9 Aurino S....Nigro V. (2008)
    9. Interactions of pathological hallmark proteins: tubul in polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (2011)
    10. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)

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    Genome Databases showing MYOZ1 gene

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    Entrez Gene: 58529 HGNC: 13752 AceView: MYOZ1 Ensembl:ENSG00000177791 euGenes: HUgn58529
    ECgene: MYOZ1 H-InvDB: MYOZ1

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