MYOZ1 myozenin 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: MYOZ1provided by HGNC
Official Full Name: myozenin 1provided by HGNC
Primary source: HGNC:HGNC:13752
See related: Ensembl:ENSG00000177791 MIM:605603; AllianceGenome:HGNC:13752
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CS-2; FATZ; MYOZ
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 muscle. They play an important role in modulation of calcineurin signaling. [provided by RefSeq, Apr 2012]
Expression: Biased expression in esophagus (RPKM 24.9), prostate (RPKM 22.9) and 4 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 10q22.2

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (73631612..73641474, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (74503036..74512896, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (75391370..75401232, complement)

Chromosome 10 - NC_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Our results implicate MYOZ1 as the causative gene at the chromosome 10q22 locus for AF.
Title: Gene expression and genetic variation in human atria.
A large number of variations were found in many of the genes (myozenin 1, gamma-filamin, kinectin-1) in patients with limb-girdle muscular dystrophies and controls.
Title: Candidate-gene testing for orphan limb-girdle muscular dystrophies.
Observational study of gene-disease association. (HuGE Navigator)
Title: Candidate-gene testing for orphan limb-girdle muscular dystrophies.
Mutations in PDLIM3 and MYOZ1, encoding myocyte Z line proteins, do not play any significant role in the genetic etiology of idiopathic DCM.
Title: Mutations in PDLIM3 and MYOZ1 encoding myocyte Z line proteins are infrequently found in idiopathic dilated cardiomyopathy.
Our findings provide evidence for a novel connection between the Z-disc protein calsarcin-2 and the sarcolemma via filamins and beta1 integrins.
Title: The Z-disc proteins myotilin and FATZ-1 interact with each other and are connected to the sarcolemma via muscle-specific filamins.
Mutations in MYOZ1 and MYOZ2 are at least very rare events as an underlying disease mechanism for idiopathic or familial DCM
Title: Mutations in MYOZ1 as well as MYOZ2 encoding the calsarcins are not associated with idiopathic and familial dilated cardiomyopathy.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH41784 (e-PCR)
- UniSTS:72991

RH121836 (e-PCR)
- UniSTS:134498

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables FATZ binding	IBA Inferred from Biological aspect of Ancestor more info
enables FATZ binding	IDA Inferred from Direct Assay more info	PubMed
enables actin binding	IBA Inferred from Biological aspect of Ancestor more info
enables actinin binding	EXP Inferred from Experiment more info	PubMed
enables actinin binding	IMP Inferred from Mutant Phenotype more info	PubMed
enables actinin binding	IPI Inferred from Physical Interaction more info	PubMed
enables molecular condensate scaffold activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein serine/threonine phosphatase inhibitor activity	ISS Inferred from Sequence or Structural Similarity more info	PubMed
enables telethonin binding	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in myofibril assembly	TAS Traceable Author Statement more info	PubMed
involved_in negative regulation of calcineurin-NFAT signaling cascade	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in negative regulation of skeletal muscle tissue regeneration	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in negative regulation of transcription by RNA polymerase II	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in sarcomere organization	ISS Inferred from Sequence or Structural Similarity more info	PubMed
acts_upstream_of_or_within_positive_effect skeletal muscle fiber adaptation	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in skeletal muscle tissue development	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in wound healing	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
is_active_in Z disc	IBA Inferred from Biological aspect of Ancestor more info
is_active_in actin cytoskeleton	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IEA Inferred from Electronic Annotation more info
located_in pseudopodium	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: myozenin-1

Names: calsarcin-2; filamin-, actinin- and telethonin-binding protein

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.