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Aliases for MYOZ1 Gene

Aliases for MYOZ1 Gene

  • Myozenin 1 2 3 5
  • Calsarcin-2 2 3 4
  • Filamin-, Actinin- And Telethonin-Binding Protein 3 4
  • MYOZ 3 4
  • Protein FATZ 4
  • Myozenin-1 3
  • Myozenin 2
  • CS-2 3
  • FATZ 3

External Ids for MYOZ1 Gene

Previous HGNC Symbols for MYOZ1 Gene

  • MYOZ

Previous GeneCards Identifiers for MYOZ1 Gene

  • GC10M074170
  • GC10M074494
  • GC10M075283
  • GC10M074736
  • GC10M075061
  • GC10M075391
  • GC10M069384

Summaries for MYOZ1 Gene

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. Diseases associated with MYOZ1 include Dilated Cardiomyopathy. Gene Ontology (GO) annotations related to this gene include FATZ binding. An important paralog of this gene is MYOZ2.

UniProtKB/Swiss-Prot for MYOZ1 Gene

  • 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

Additional gene information for MYOZ1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MYOZ1 Gene

Genomics for MYOZ1 Gene

GeneHancer (GH) Regulatory Elements for MYOZ1 Gene

Promoters and enhancers for MYOZ1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH10J073646 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 673.3 -10.3 -10308 11 HDGF PKNOX1 FOXA2 SMAD1 ARNT ARID4B ETS1 ZNF280A TCF12 GATA2 MYOZ1 SYNPO2L LOC105378360 NDST2 ZSWIM8 FUT11 ECD ZSWIM8-AS1 SEC24C GLUD1P3
GH10J073640 Promoter/Enhancer 1.4 EPDnew Ensembl ENCODE dbSUPER 650.7 +0.2 230 2.2 ZNF335 MEF2D CEBPB SPI1 MYOZ1 PPP3CB NUDT13 ENSG00000272791 GC10P073609
GH10J073780 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 16.5 -140.2 -140203 2.6 PKNOX1 SMAD1 ARID4B SIN3A DMAP1 YY1 SLC30A9 POLR2B ZNF766 E2F8 CHCHD1 GC10M073780 NDST2 MYOZ1 ECD ZSWIM8 AP3M1 ENSG00000224195 CAMK2G SEC24C
GH10J073784 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 16.4 -144.1 -144105 2.3 HDGF PKNOX1 SMAD1 FOXA2 ARNT ARID4B SIN3A ZNF2 YY1 POLR2B ZSWIM8 GC10P073790 GC10P073789 NDST2 SEC24C MYOZ1 ECD ZSWIM8-AS1 ENSG00000224195 CAMK2G
GH10J073741 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 16.1 -101.8 -101848 4.1 HDGF PKNOX1 CLOCK SMAD1 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 SEC24C AGAP5 ENSG00000279088 GC10M073741 ECD FUT11 ENSG00000272140 GLUD1P3 NDST2 DUSP8P5
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MYOZ1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MYOZ1 gene promoter:
  • ITF-2
  • Tal-1beta
  • Zic3
  • ISGF-3
  • Ik-3
  • SRF
  • SRF (504 AA)
  • LyF-1
  • PPAR-alpha
  • AML1a

Genomic Locations for MYOZ1 Gene

Genomic Locations for MYOZ1 Gene
chr10:73,631,612-73,641,757
(GRCh38/hg38)
Size:
10,146 bases
Orientation:
Minus strand
chr10:75,391,412-75,401,515
(GRCh37/hg19)
Size:
10,104 bases
Orientation:
Minus strand

Genomic View for MYOZ1 Gene

Genes around MYOZ1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MYOZ1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MYOZ1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MYOZ1 Gene

Proteins for MYOZ1 Gene

  • Protein details for MYOZ1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NP98-MYOZ1_HUMAN
    Recommended name:
    Myozenin-1
    Protein Accession:
    Q9NP98
    Secondary Accessions:
    • Q9H1I7

    Protein attributes for MYOZ1 Gene

    Size:
    299 amino acids
    Molecular mass:
    31745 Da
    Quaternary structure:
    • Interacts with ACTN2, ACTN3, FLNA, FLNB, FLNC, LDB3, PPP3CA and TCAP. Interacts via its C-terminal region with MYOT.

neXtProt entry for MYOZ1 Gene

Post-translational modifications for MYOZ1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MYOZ1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for MYOZ1 Gene

Domains & Families for MYOZ1 Gene

Gene Families for MYOZ1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for MYOZ1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MYOZ1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9NP98

UniProtKB/Swiss-Prot:

MYOZ1_HUMAN :
  • Belongs to the myozenin family.
Family:
  • Belongs to the myozenin family.
genes like me logo Genes that share domains with MYOZ1: view

Function for MYOZ1 Gene

Molecular function for MYOZ1 Gene

UniProtKB/Swiss-Prot 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.

Phenotypes From GWAS Catalog for MYOZ1 Gene

Gene Ontology (GO) - Molecular Function for MYOZ1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IBA --
GO:0005515 protein binding IPI 10427098
GO:0031433 telethonin binding IBA --
GO:0051373 FATZ binding IDA 10984498
genes like me logo Genes that share ontologies with MYOZ1: view
genes like me logo Genes that share phenotypes with MYOZ1: view

Animal Models for MYOZ1 Gene

MGI Knock Outs for MYOZ1:
  • Myoz1 Myoz1<tm1a(EUCOMM)Hmgu>
  • Myoz1 Myoz1<tm1Eno>
  • Myoz1 Myoz1<tm1b(EUCOMM)Hmgu>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MYOZ1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for MYOZ1 Gene

Localization for MYOZ1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MYOZ1 Gene

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
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 MYOZ1 gene
Compartment Confidence
nucleus 5
cytoskeleton 4
mitochondrion 1
cytosol 1

Gene Ontology (GO) - Cellular Components for MYOZ1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0015629 actin cytoskeleton IBA,IEA --
GO:0030018 Z disc IBA --
GO:0031143 pseudopodium IEA --
GO:0042995 cell projection IEA --
genes like me logo Genes that share ontologies with MYOZ1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for MYOZ1 Gene

Pathways & Interactions for MYOZ1 Gene

SuperPathways for MYOZ1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for MYOZ1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030239 myofibril assembly TAS 11114196
genes like me logo Genes that share ontologies with MYOZ1: view

No data available for Pathways by source and SIGNOR curated interactions for MYOZ1 Gene

Drugs & Compounds for MYOZ1 Gene

(1) Drugs for MYOZ1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with MYOZ1: view

Transcripts for MYOZ1 Gene

mRNA/cDNA for MYOZ1 Gene

(1) REFSEQ mRNAs :
(7) Additional mRNA sequences :
(175) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for MYOZ1 Gene

Myozenin 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MYOZ1

Alternative Splicing Database (ASD) splice patterns (SP) for MYOZ1 Gene

No ASD Table

Relevant External Links for MYOZ1 Gene

GeneLoc Exon Structure for
MYOZ1
ECgene alternative splicing isoforms for
MYOZ1

Expression for MYOZ1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MYOZ1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MYOZ1 Gene

This gene is overexpressed in Muscle - Skeletal (x48.5).

Protein differential expression in normal tissues from HIPED for MYOZ1 Gene

This gene is overexpressed in Esophagus (59.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for MYOZ1 Gene



Protein tissue co-expression partners for MYOZ1 Gene

NURSA nuclear receptor signaling pathways regulating expression of MYOZ1 Gene:

MYOZ1

SOURCE GeneReport for Unigene cluster for MYOZ1 Gene:

Hs.238756

mRNA Expression by UniProt/SwissProt for MYOZ1 Gene:

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

Evidence on tissue expression from TISSUES for MYOZ1 Gene

  • Muscle(4.6)
genes like me logo Genes that share expression patterns with MYOZ1: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for MYOZ1 Gene

Orthologs for MYOZ1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for MYOZ1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MYOZ1 34 33
  • 99.67 (n)
OneToOne
dog
(Canis familiaris)
Mammalia MYOZ1 34 33
  • 90.8 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Myoz1 16 34 33
  • 90.65 (n)
rat
(Rattus norvegicus)
Mammalia Myoz1 33
  • 89.98 (n)
cow
(Bos Taurus)
Mammalia MYOZ1 34 33
  • 86.53 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MYOZ1 34
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MYOZ1 34
  • 53 (a)
OneToOne
chicken
(Gallus gallus)
Aves MYOZ1 34 33
  • 63.1 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MYOZ1 34
  • 57 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia myoz1 33
  • 62.82 (n)
Str.15405 33
African clawed frog
(Xenopus laevis)
Amphibia myoz1-prov 33
zebrafish
(Danio rerio)
Actinopterygii myoz1a 34 33
  • 67.97 (n)
OneToMany
myoz1b 34
  • 40 (a)
OneToMany
Dr.27023 33
Species where no ortholog for MYOZ1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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 squirt (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 MYOZ1 Gene

ENSEMBL:
Gene Tree for MYOZ1 (if available)
TreeFam:
Gene Tree for MYOZ1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MYOZ1: view image

Paralogs for MYOZ1 Gene

Paralogs for MYOZ1 Gene

genes like me logo Genes that share paralogs with MYOZ1: view

Variants for MYOZ1 Gene

Sequence variations from dbSNP and Humsavar for MYOZ1 Gene

SNP ID Clin Chr 10 pos Variation AA Info Type
rs1000333470 -- 73,643,522(-) G/A upstream_transcript_variant
rs1000417812 -- 73,636,813(-) AAAAAAA/AAAAAAAA intron_variant
rs1000491460 -- 73,636,476(-) A/G intron_variant
rs1000754434 -- 73,638,579(-) C/A intron_variant
rs1000982549 -- 73,631,426(-) G/A downstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for MYOZ1 Gene

Variant ID Type Subtype PubMed ID
nsv7143 CNV deletion 18451855

Variation tolerance for MYOZ1 Gene

Residual Variation Intolerance Score: 48% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.15; 23.32% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MYOZ1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MYOZ1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MYOZ1 Gene

Disorders for MYOZ1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for MYOZ1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
dilated cardiomyopathy
  • cardiomyopathy, familial idiopathic
- elite association - COSMIC cancer census association via MalaCards
Search MYOZ1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for MYOZ1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with MYOZ1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MYOZ1 Gene

Publications for MYOZ1 Gene

  1. Myozenin: an alpha-actinin- and gamma-filamin-binding protein of skeletal muscle Z lines. (PMID: 11171996) Takada F … Beggs AH (Proceedings of the National Academy of Sciences of the United States of America 2001) 2 3 4 22 58
  2. Candidate-gene testing for orphan limb-girdle muscular dystrophies. (PMID: 19472918) Aurino S … Nigro V (Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology 2008) 3 22 44 58
  3. The Z-disc proteins myotilin and FATZ-1 interact with each other and are connected to the sarcolemma via muscle-specific filamins. (PMID: 16076904) Gontier Y … Borradori L (Journal of cell science 2005) 3 4 22 58
  4. Calsarcin-3, a novel skeletal muscle-specific member of the calsarcin family, interacts with multiple Z-disc proteins. (PMID: 11842093) Frey N … Olson EN (The Journal of biological chemistry 2002) 3 4 22 58
  5. FATZ, a filamin-, actinin-, and telethonin-binding protein of the Z-disc of skeletal muscle. (PMID: 10984498) Faulkner G … Lanfranchi G (The Journal of biological chemistry 2000) 2 3 4 58

Products for MYOZ1 Gene

Sources for MYOZ1 Gene

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