Human Gene MYOZ1 (ENST00000359322.5_7) from GENCODE V47lift37
  Description: myozenin 1 (from RefSeq NM_021245.4)
Gencode Transcript: ENST00000359322.5_7
Gencode Gene: ENSG00000177791.12_9
Transcript (Including UTRs)
   Position: hg19 chr10:75,391,370-75,401,232 Size: 9,863 Total Exon Count: 6 Strand: -
Coding Region
   Position: hg19 chr10:75,391,688-75,399,775 Size: 8,088 Coding Exon Count: 5 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr10:75,391,370-75,401,232)mRNA (may differ from genome)Protein (299 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMGIOMIMPubMedUniProtKBWikipedia
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: MYOZ1_HUMAN
DESCRIPTION: RecName: Full=Myozenin-1; AltName: Full=Calsarcin-2; AltName: Full=Filamin-, actinin- and telethonin-binding protein; AltName: Full=Protein FATZ;
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 modulation of calcineurin signaling. May play a role in myofibrillogenesis.
SUBUNIT: Interacts with ACTN2, ACTN3, FLNA, FLNB, FLNC, LDB3, PPP3CA and TCAP. Interacts via its C-terminal region with MYOT.
SUBCELLULAR LOCATION: Nucleus. Cell projection, pseudopodium. Note=Localized to the nucleus and pseudopodia of undifferentiated cells and detected throughout the myotubes of differentiated cells. Colocalizes with ACTN2, FLNC and MYOT at the Z-lines of skeletal muscle.
TISSUE SPECIFICITY: Expressed primarily in skeletal muscle. Detected at lower levels in heart, prostate and pancreas.
SIMILARITY: Belongs to the myozenin family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 890.25 RPKM in Muscle - Skeletal
Total median expression: 1001.19 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -24.9082-0.304 Picture PostScript Text
3' UTR -76.80318-0.242 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR008438 - Calsarcin-bd

Pfam Domains:
PF05556 - Calcineurin-binding protein (Calsarcin)

ModBase Predicted Comparative 3D Structure on Q9NP98
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003779 actin binding
GO:0005515 protein binding
GO:0031433 telethonin binding
GO:0051373 FATZ binding

Biological Process:
GO:0030239 myofibril assembly

Cellular Component:
GO:0005634 nucleus
GO:0015629 actin cytoskeleton
GO:0030018 Z disc
GO:0031143 pseudopodium
GO:0042995 cell projection


-  Descriptions from all associated GenBank mRNAs
  BC025753 - Homo sapiens myozenin 1, mRNA (cDNA clone MGC:34233 IMAGE:5202455), complete cds.
AY013297 - Homo sapiens calcineurin-binding protein calsarcin-2 mRNA, complete cds.
AK308200 - Homo sapiens cDNA, FLJ98148.
AJ278124 - Homo sapiens mRNA for FATZ (ORF1), clone Telethon(Italy_B41)_HSPD00355_FL502-1.
AF240633 - Homo sapiens myozenin (MYOZ) mRNA, complete cds.
AL359210 - Homo sapiens EST from chimeric clone 629286, full insert 5' end.
JD362591 - Sequence 343615 from Patent EP1572962.
AK300683 - Homo sapiens cDNA FLJ57820 complete cds, moderately similar to Myozenin-1.
JD313895 - Sequence 294919 from Patent EP1572962.
JD315663 - Sequence 296687 from Patent EP1572962.
JD292842 - Sequence 273866 from Patent EP1572962.
JD564979 - Sequence 546003 from Patent EP1572962.
JD358872 - Sequence 339896 from Patent EP1572962.
JD283160 - Sequence 264184 from Patent EP1572962.
DQ891549 - Synthetic construct clone IMAGE:100004179; FLH177958.01X; RZPDo839F10126D myozenin 1 (MYOZ1) gene, encodes complete protein.
DQ894737 - Synthetic construct Homo sapiens clone IMAGE:100009197; FLH177954.01L; RZPDo839F10125D myozenin 1 (MYOZ1) gene, encodes complete protein.
AB463909 - Synthetic construct DNA, clone: pF1KB6378, Homo sapiens MYOZ1 gene for myozenin 1, without stop codon, in Flexi system.
JD417216 - Sequence 398240 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000359322.1, ENST00000359322.2, ENST00000359322.3, ENST00000359322.4, MYOZ , MYOZ1 , MYOZ1_HUMAN, NM_021245, Q9H1I7, Q9NP98, uc318azv.1, uc318azv.2
UCSC ID: ENST00000359322.5_7
RefSeq Accession: NM_021245.4
Protein: Q9NP98 (aka MYOZ1_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.