MYOZ1 (myozenin 1)

Gene

• Entrez ID: 58529
• Gene name: Myozenin 1
• Gene symbol: MYOZ1
• Synonyms (NCBI Gene): CS-2, FATZ, MYOZ
• Chromosome: 10
• Chromosome location: 10q22.2
• Summary: 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

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1170327	hsa-miR-122	CLIP-seq
MIRT1170328	hsa-miR-3144-5p	CLIP-seq
MIRT1170329	hsa-miR-3191	CLIP-seq
MIRT1170330	hsa-miR-3198	CLIP-seq
MIRT1170331	hsa-miR-4309	CLIP-seq
MIRT1170332	hsa-miR-432	CLIP-seq
MIRT1170333	hsa-miR-4481	CLIP-seq
MIRT1170334	hsa-miR-4652-5p	CLIP-seq
MIRT1170335	hsa-miR-4745-5p	CLIP-seq
MIRT1170336	hsa-miR-491-5p	CLIP-seq
MIRT1170337	hsa-miR-890	CLIP-seq
MIRT2278156	hsa-miR-136	CLIP-seq
MIRT2391296	hsa-miR-4257	CLIP-seq
MIRT2391297	hsa-miR-4261	CLIP-seq
MIRT2391298	hsa-miR-4496	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	ISS	18846255
GO:0003779	Function	Actin binding	IBA	21873635
GO:0004865	Function	Protein serine/threonine phosphatase inhibitor activity	ISS	18846255
GO:0005515	Function	Protein binding	IPI	10427098, 10984498, 11114196, 11171996, 11842093, 16076904, 16189514, 18157088, 32296183, 32814053
GO:0005634	Component	Nucleus	IEA
GO:0007519	Process	Skeletal muscle tissue development	ISS	18846255
GO:0015629	Component	Actin cytoskeleton	IBA	21873635
GO:0030018	Component	Z disc	IBA	21873635
GO:0030239	Process	Myofibril assembly	TAS	11114196
GO:0031143	Component	Pseudopodium	IEA
GO:0031433	Function	Telethonin binding	IBA	21873635
GO:0032515	Process	Negative regulation of phosphoprotein phosphatase activity	IEA
GO:0042060	Process	Wound healing	ISS
GO:0043417	Process	Negative regulation of skeletal muscle tissue regeneration	ISS	18846255
GO:0043503	Process	Skeletal muscle fiber adaptation	ISS	18846255
GO:0045214	Process	Sarcomere organization	ISS	18846255
GO:0051373	Function	FATZ binding	IBA	21873635
GO:0051373	Function	FATZ binding	IDA	10984498
GO:0070885	Process	Negative regulation of calcineurin-NFAT signaling cascade	ISS	18846255

Other IDs

• MIM: 605603
• HGNC: 13752
• e!Ensembl: ENSG00000177791

Protein

• UniProt ID: Q9NP98
• Protein name: Myozenin-1 (Calsarcin-2) (Filamin-, actinin- and telethonin-binding protein) (Protein FATZ)
• Protein 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 modu
• PDB: 7A8T, 7A8U, 7ANK
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF05556	Calsarcin	1 → 299	Calcineurin-binding protein (Calsarcin)	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed primarily in skeletal muscle. Detected at lower levels in heart, prostate and pancreas. {ECO:0000269|PubMed:10984498, ECO:0000269|PubMed:11114196, ECO:0000269|PubMed:11171996}.
• Sequence:

  MPLSGTPAPNKKRKSSKLIMELTGGGQESSGLNLGKKISVPRDVMLEELSLLTNRGSKMF
  KLRQMRVEKFIYENHPDVFSDSSMDHFQKFLPTVGGQLGTAGQGFSYSKSNGRGGSQAGG
  SGSAGQYGSDQQHHLGSGSGAGGTGGPAGQAGRGGAAGTAGVGETGSGDQAGGEGKHITV
  FKTYISPWERAMGVDPQQKMELGIDLLAYGAKAELPKYKSFNRTAMPYGGYEKASKRMTF
  QMPKFDLGPLLSEPLVLYNQNLSNRPSFNRTPIPWLSSGEPVDYNVDIGIPLDGETEEL

• Sequence length: 299

Pathways

KEGG:

Cytoskeleton in muscle cells

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Atrial fibrillation	Atrial Fibrillation	rs120074192, rs121908590, rs121908593, rs121434558, rs587776851, rs387906612, rs387906613, rs387906614, rs387906615, rs199472687, rs199472705, rs199473324, rs587777336, rs587777339, rs587777557, rs587777558, rs587777559, rs587777560, rs886037778, rs769405762, rs770372675	30061737

Unknown
Disease term	Disease name	Evidence	References	Source
Paroxysmal atrial fibrillation	Paroxysmal atrial fibrillation		30061737	ClinVar

Associations from Text Mining
Disease Name	Relationship Type	References
Atrial Fibrillation	Associate	24177373, 28464817, 29545482
Crisponi syndrome	Associate	25532418
Heterotaxy Syndrome	Associate	29545482
Muscular Dystrophies Limb Girdle	Associate	11171996
Neuromuscular Diseases	Associate	11171996