Format

Send to:

Choose Destination

MYOZ1 myozenin 1 [ Homo sapiens (human) ]

Gene ID: 58529, updated on 11-Sep-2019

Summary

Official Symbol
MYOZ1provided by HGNC
Official Full Name
myozenin 1provided by HGNC
Primary source
HGNC:HGNC:13752
See related
Ensembl:ENSG00000177791 MIM:605603
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

Genomic context

See MYOZ1 in Genome Data Viewer
Location:
10q22.2
Exon count:
6
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (73631612..73641474, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (75391370..75401515, complement)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene ubiquitin specific peptidase 54 Neighboring gene RNA, U6 small nuclear 883, pseudogene Neighboring gene ribosomal protein S26 pseudogene 41 Neighboring gene uncharacterized LOC105378360 Neighboring gene synaptopodin 2 like Neighboring gene BMS1P4-AGAP5 readthough Neighboring gene ArfGAP with GTPase domain, ankyrin repeat and PH domain 5

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
FATZ binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
FATZ binding IDA
Inferred from Direct Assay
more info
PubMed 
actin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein serine/threonine phosphatase inhibitor activity ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
telethonin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
myofibril assembly TAS
Traceable Author Statement
more info
PubMed 
negative regulation of calcineurin-NFAT signaling cascade ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
negative regulation of phosphoprotein phosphatase activity IEA
Inferred from Electronic Annotation
more info
 
negative regulation of skeletal muscle tissue regeneration ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
negative regulation of transcription by RNA polymerase II ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
sarcomere organization ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
skeletal muscle fiber adaptation ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
skeletal muscle tissue development ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
Component Evidence Code Pubs
Z disc IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
actin cytoskeleton IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IEA
Inferred from Electronic Annotation
more info
 
pseudopodium IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
myozenin-1
Names
calsarcin-2
filamin-, actinin- and telethonin-binding protein

NCBI Reference Sequences (RefSeq)

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.

Genomic

  1. NG_032583.1 RefSeqGene

    Range
    5284..15146
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_021245.4NP_067068.1  myozenin-1

    See identical proteins and their annotated locations for NP_067068.1

    Status: REVIEWED

    Source sequence(s)
    AA176752, BC025753
    Consensus CDS
    CCDS7330.1
    UniProtKB/Swiss-Prot
    Q9NP98
    Related
    ENSP00000352272.4, ENST00000359322.4
    Conserved Domains (1) summary
    pfam05556
    Location:1299
    Calsarcin; Calcineurin-binding protein (Calsarcin)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

    Range
    73631612..73641474 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Support Center