• Gene id: 58529

Gene Summary

• Gene Symbol: MYOZ1   Gene   UCSC   Ensembl
• Aliases: CS-2, FATZ, MYOZ
• Gene name: myozenin 1
• Alternate names: myozenin-1, calsarcin-2, filamin-, actinin- and telethonin-binding protein,
• Gene location: 10q22.2 (73641473: 73631611)     Exons: 6     NC_000010.11
• Gene summary(Entrez): 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 m
• OMIM: 616805

Protein Summary

• Protein general information: Q9NP98  
  • Name: Myozenin 1 (Calsarcin 2) (Filamin , actinin and telethonin binding protein) (Protein FATZ)
  • Length: 299  
  • Mass: 31745
  • Tissue specificity: Expressed primarily in skeletal muscle. Detected at lower levels in heart, prostate and pancreas. {ECO
• Sequence:

  MPLSGTPAPNKKRKSSKLIMELTGGGQESSGLNLGKKISVPRDVMLEELSLLTNRGSKMFKLRQMRVEKFIYENH
  PDVFSDSSMDHFQKFLPTVGGQLGTAGQGFSYSKSNGRGGSQAGGSGSAGQYGSDQQHHLGSGSGAGGTGGPAGQ
  AGRGGAAGTAGVGETGSGDQAGGEGKHITVFKTYISPWERAMGVDPQQKMELGIDLLAYGAKAELPKYKSFNRTA
  MPYGGYEKASKRMTFQMPKFDLGPLLSEPLVLYNQNLSNRPSFNRTPIPWLSSGEPVDYNVDIGIPLDGETEEL

• Structural information:
  • Interpro: IPR008438  
  • STRING: ENSP00000352272
• Other Databases: GeneCards:  MYOZ1  Malacards:  MYOZ1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003779	actin binding	IBA	molecular function
GO:0015629	actin cytoskeleton	IBA	cellular component
GO:0051373	FATZ binding	IBA	molecular function
GO:0030018	Z disc	IBA	cellular component
GO:0031433	telethonin binding	IBA	molecular function
GO:0042995	cell projection	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0043503	skeletal muscle fiber adaptation	IEA	biological process
GO:0043417	negative regulation of skeletal muscle tissue regeneration	IEA	biological process
GO:0015629	actin cytoskeleton	IEA	cellular component
GO:0070885	negative regulation of calcineurin-NFAT signaling cascade	IEA	biological process
GO:0045214	sarcomere organization	IEA	biological process
GO:0007519	skeletal muscle tissue development	IEA	biological process
GO:0004865	protein serine/threonine phosphatase inhibitor activity	IEA	molecular function
GO:0000122	negative regulation of transcription by RNA polymerase II	IEA	biological process
GO:0004865	protein serine/threonine phosphatase inhibitor activity	ISS	molecular function
GO:0043417	negative regulation of skeletal muscle tissue regeneration	ISS	biological process
GO:0043503	skeletal muscle fiber adaptation	ISS	biological process positive effect
GO:0000122	negative regulation of transcription by RNA polymerase II	ISS	biological process
GO:0007519	skeletal muscle tissue development	ISS	biological process
GO:0045214	sarcomere organization	ISS	biological process
GO:0070885	negative regulation of calcineurin-NFAT signaling cascade	ISS	biological process
GO:0042060	wound healing	ISS	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0031143	pseudopodium	IEA	cellular component
GO:0032515	negative regulation of phosphoprotein phosphatase activity	IEA	biological process
GO:0032515	negative regulation of phosphoprotein phosphatase activity	IEA	biological process
GO:0051373	FATZ binding	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0030239	myofibril assembly	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R