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	IEA
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	ISS	18846255
GO:0003779	Function	Actin binding	IBA
GO:0004865	Function	Protein serine/threonine phosphatase inhibitor activity	IEA
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	IEA
GO:0007519	Process	Skeletal muscle tissue development	ISS	18846255
GO:0015629	Component	Actin cytoskeleton	IBA
GO:0015629	Component	Actin cytoskeleton	IEA
GO:0030018	Component	Z disc	IBA
GO:0030018	Component	Z disc	IEA
GO:0030239	Process	Myofibril assembly	TAS	11114196
GO:0031143	Component	Pseudopodium	IEA
GO:0031433	Function	Telethonin binding	IBA
GO:0042060	Process	Wound healing	IEA
GO:0042060	Process	Wound healing	ISS
GO:0042805	Function	Actinin binding	EXP	34049882
GO:0042805	Function	Actinin binding	IMP	34049882
GO:0042805	Function	Actinin binding	IPI	34049882
GO:0042995	Component	Cell projection	IEA
GO:0043417	Process	Negative regulation of skeletal muscle tissue regeneration	IEA
GO:0043417	Process	Negative regulation of skeletal muscle tissue regeneration	ISS	18846255
GO:0043503	Process	Skeletal muscle fiber adaptation	IEA
GO:0043503	Process	Skeletal muscle fiber adaptation	ISS	18846255
GO:0045214	Process	Sarcomere organization	IEA
GO:0045214	Process	Sarcomere organization	ISS	18846255
GO:0051373	Function	FATZ binding	IBA
GO:0051373	Function	FATZ binding	IDA	10984498
GO:0070885	Process	Negative regulation of calcineurin-NFAT signaling cascade	IEA
GO:0070885	Process	Negative regulation of calcineurin-NFAT signaling cascade	ISS	18846255
GO:0140693	Function	Molecular condensate scaffold activity	IDA	34049882

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

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ATRIAL FIBRILLATION	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Atrial Fibrillation	Atrial Fibrillation	BEFREE	24177373, 26073630, 27438321		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation	Atrial fibrillation	Pubtator	24177373, 28464817, 29545482	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation	Atrial Fibrillation	CTD_human_DG	30061737		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	17254821		★☆☆☆☆ Found in Text Mining only
Crisponi syndrome	Crisponi syndrome	Pubtator	25532418	Associate	★☆☆☆☆ Found in Text Mining only
Heterotaxy Syndrome	Heterotaxy syndrome	Pubtator	29545482	Associate	★☆☆☆☆ Found in Text Mining only
Neuromuscular Diseases	Neuromuscular disease	Pubtator	11171996	Associate	★☆☆☆☆ Found in Text Mining only
Paroxysmal atrial fibrillation	Paroxysmal atrial fibrillation	CTD_human_DG	30061737		★☆☆☆☆ Found in Text Mining only