MYOZ1

MYOZ1
Identifiers
Aliases	MYOZ1 , CS-2, FATZ, MYOZ, myozenin 1
External IDs	OMIM: 605603 MGI: 1929471 HomoloGene: 23311 GeneCards: MYOZ1
Gene location (Human)
Chr.	Chromosome 10 (human)
End	73,641,474 bp
Gene location (Mouse)
Chr.	Chromosome 14 (mouse)
End	20,706,608 bp
RNA expression pattern
	Top expressed in
	gastrocnemius muscle; ; biceps brachii; ; vastus lateralis muscle; ; triceps brachii muscle; ; thoracic diaphragm; ; deltoid muscle; ; tibialis anterior muscle; ; body of tongue; ; right coronary artery; ; popliteal artery;
	Top expressed in
	temporal muscle; ; triceps brachii muscle; ; sternocleidomastoid muscle; ; digastric muscle; ; ankle; ; quadriceps femoris muscle; ; tibialis anterior muscle; ; extensor digitorum longus muscle; ; vastus lateralis muscle; ; plantaris muscle;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	FATZ binding ; protein binding ; actin binding ; telethonin binding ; protein serine/threonine phosphatase inhibitor activity ;
Cellular component	cell projection ; nucleus ; pseudopodium ; actin cytoskeleton ; Z disc ;
Biological process	myofibril assembly ; negative regulation of transcription by RNA polymerase II ; skeletal muscle tissue development ; negative regulation of phosphoprotein phosphatase activity ; negative regulation of skeletal muscle tissue regeneration ; skeletal muscle fiber adaptation ; sarcomere organization ; negative regulation of calcineurin-NFAT signaling cascade ;
	Sources:Amigo / QuickGO
Orthologs
	58529
	59011
	ENSG00000177791
	ENSMUSG00000068697
	Q9NP98
	Q9JK37
	NM_021245
	NM_021508
	NP_067068
	NP_067483
	Wikidata
View/Edit Human	View/Edit Mouse

Last updated October 18, 2022

Myozenin-1 is a protein that in humans is encoded by the MYOZ1 gene.^[5]^[6]^[7]

Interactions

MYOZ1 has been shown to interact with Telethonin,^[6]^[8] FLNC ^[5]^[6]^[8] and Actinin, alpha 2.^[6]

Related Research Articles

Alpha-actinin-1 is a protein that in humans is encoded by the ACTN1 gene.

Alpha-actinin-2 is a protein which in humans is encoded by the ACTN2 gene. This gene encodes an alpha-actinin isoform that is expressed in both skeletal and cardiac muscles and functions to anchor myofibrillar actin thin filaments and titin to Z-discs.

Filamin-C (FLN-C) also known as actin-binding-like protein (ABPL) or filamin-2 (FLN2) is a protein that in humans is encoded by the FLNC gene. Filamin-C is mainly expressed in cardiac and skeletal muscles, and functions at Z-discs and in subsarcolemmal regions.

Sarcoplasmic/endoplasmic reticulum calcium ATPase 1 (SERCA1) is an enzyme that in humans is encoded by the ATP2A1 gene.

Telethonin, also known as Tcap, is a protein that in humans is encoded by the TCAP gene. Telethonin is expressed in cardiac and skeletal muscle at Z-discs and functions to regulate sarcomere assembly, T-tubule function and apoptosis. Telethonin has been implicated in several diseases, including limb-girdle muscular dystrophy, hypertrophic cardiomyopathy, dilated cardiomyopathy and idiopathic cardiomyopathy.

PITSLRE serine/threonine-protein kinase CDC2L1 is an enzyme that in humans is encoded by the CDC2L1 gene.

Filamin B, beta (FLNB), also known as Filamin B, beta , is a cytoplasmic protein which in humans is encoded by the FLNB gene.

Regulator of G-protein signaling 19 is a protein that in humans is encoded by the RGS19 gene.

Serine/threonine-protein phosphatase 2B catalytic subunit beta isoform (PP2BB) is an enzyme that in humans is encoded by the PPP3CB gene.

Annexin A7 is a protein that in humans is encoded by the ANXA7 gene.

Myosin-binding protein C, slow-type is a protein that in humans is encoded by the MYBPC1 gene.

Dual specificity protein kinase TTK also known as Mps1 is an enzyme that in humans is encoded by the TTK gene.

Myocardin is a protein that in humans is encoded by the MYOCD gene.

Calcium-activated potassium channel subunit beta-2 is a protein that in humans is encoded by the KCNMB2 gene.

Myozenin-2, also referred to as Calsarcin-1, is a protein that in humans is encoded by the MYOZ2 gene. The Calsarcin-1 isoform is a muscle protein expressed in cardiac muscle and slow-twitch skeletal muscle, which functions to tether calcineurin to alpha-actinin at Z-discs, and inhibit the pathological cardiac hypertrophic response. This differs from the fast-skeletal muscle isoform, calsarcin-2.

LIM domain binding 3 (LDB3), also known as Z-band alternatively spliced PDZ-motif (ZASP), is a protein which in humans is encoded by the LDB3 gene. ZASP belongs to the Enigma subfamily of proteins and stabilizes the sarcomere during contraction, through interactions with actin in cardiac and skeletal muscles. Mutations in the ZASP gene has been associated with several muscular diseases.

Early growth response protein 3 is a protein in humans, encoded by the EGR3 gene.

Myosin-IIIa is a protein that in humans is encoded by the MYO3A gene.

Tropomodulin 4 (muscle) also known as TMOD4 is a protein which in humans is encoded by the TMOD4 gene.

Dystrobrevin beta is a protein which in humans is encoded by the DTNB gene.

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000177791 - Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000068697 - Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
1 2 Takada F, Vander Woude DL, Tong HQ, Thompson TG, Watkins SC, Kunkel LM, Beggs AH (Feb 2001). "Myozenin: an alpha-actinin- and gamma-filamin-binding protein of skeletal muscle Z lines". Proc Natl Acad Sci USA. 98 (4): 1595–600. doi: 10.1073/pnas.041609698 . PMC 29302 . PMID 11171996.
1 2 3 4 Faulkner G, Pallavicini A, Comelli A, Salamon M, Bortoletto G, Ievolella C, Trevisan S, Kojic' S, Dalla Vecchia F, Laveder P, Valle G, Lanfranchi G (Jan 2001). "FATZ, a filamin-, actinin-, and telethonin-binding protein of the Z-disc of skeletal muscle". J Biol Chem. 275 (52): 41234–42. doi: 10.1074/jbc.M007493200 . PMID 10984498.
↑ "Entrez Gene: MYOZ1 myozenin 1".
1 2 Frey, Norbert; Olson Eric N (Apr 2002). "Calsarcin-3, a novel skeletal muscle-specific member of the calsarcin family, interacts with multiple Z-disc proteins". J. Biol. Chem. 277 (16): 13998–4004. doi: 10.1074/jbc.M200712200 . ISSN 0021-9258. PMID 11842093.

Faulkner G, Pallavicini A, Formentin E, et al. (1999). "ZASP: a new Z-band alternatively spliced PDZ-motif protein". J. Cell Biol. 146 (2): 465–75. doi:10.1083/jcb.146.2.465. PMC 3206570 . PMID 10427098.
Frey N, Richardson JA, Olson EN (2001). "Calsarcins, a novel family of sarcomeric calcineurin-binding proteins". Proc. Natl. Acad. Sci. U.S.A. 97 (26): 14632–7. Bibcode:2000PNAS...9714632F. doi: 10.1073/pnas.260501097 . PMC 18970 . PMID 11114196.
Frey N, Olson EN (2002). "Calsarcin-3, a novel skeletal muscle-specific member of the calsarcin family, interacts with multiple Z-disc proteins". J. Biol. Chem. 277 (16): 13998–4004. doi: 10.1074/jbc.M200712200 . PMID 11842093.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi: 10.1073/pnas.242603899 . PMC 139241 . PMID 12477932.
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928 . PMID 15489334.
Gontier Y, Taivainen A, Fontao L, et al. (2006). "The Z-disc proteins myotilin and FATZ-1 interact with each other and are connected to the sarcolemma via muscle-specific filamins". J. Cell Sci. 118 (Pt 16): 3739–49. doi: 10.1242/jcs.02484 . PMID 16076904.
Rual JF, Venkatesan K, Hao T, et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID 16189514. S2CID 4427026.
Arola AM, Sanchez X, Murphy RT, et al. (2007). "Mutations in PDLIM3 and MYOZ1 encoding myocyte Z line proteins are infrequently found in idiopathic dilated cardiomyopathy". Mol. Genet. Metab. 90 (4): 435–40. doi:10.1016/j.ymgme.2006.12.008. PMID 17254821.
Posch MG, Perrot A, Dietz R, et al. (2007). "Mutations in MYOZ1 as well as MYOZ2 encoding the calsarcins are not associated with idiopathic and familial dilated cardiomyopathy" (PDF). Mol. Genet. Metab. 91 (2): 207–8. doi:10.1016/j.ymgme.2007.02.014. PMID 17434779.

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[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000177791 - Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000068697 - Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid11171996-5] 1 2 Takada F, Vander Woude DL, Tong HQ, Thompson TG, Watkins SC, Kunkel LM, Beggs AH (Feb 2001). "Myozenin: an alpha-actinin- and gamma-filamin-binding protein of skeletal muscle Z lines". Proc Natl Acad Sci USA. 98 (4): 1595–600. doi: 10.1073/pnas.041609698 . PMC 29302 . PMID 11171996.

[pmid10984498-6] 1 2 3 4 Faulkner G, Pallavicini A, Comelli A, Salamon M, Bortoletto G, Ievolella C, Trevisan S, Kojic' S, Dalla Vecchia F, Laveder P, Valle G, Lanfranchi G (Jan 2001). "FATZ, a filamin-, actinin-, and telethonin-binding protein of the Z-disc of skeletal muscle". J Biol Chem. 275 (52): 41234–42. doi: 10.1074/jbc.M007493200 . PMID 10984498.

[entrez-7] "Entrez Gene: MYOZ1 myozenin 1".

[pmid11842093-8] 1 2 Frey, Norbert; Olson Eric N (Apr 2002). "Calsarcin-3, a novel skeletal muscle-specific member of the calsarcin family, interacts with multiple Z-disc proteins". J. Biol. Chem. 277 (16): 13998–4004. doi: 10.1074/jbc.M200712200 . ISSN 0021-9258. PMID 11842093.

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MYOZ1

Contents

Interactions

Related Research Articles

References

Further reading