Human Gene MYZAP (ENST00000267853.10_7) from GENCODE V47lift37
  Description: myocardial zonula adherens protein, transcript variant 1 (from RefSeq NM_001018100.5)
Gencode Transcript: ENST00000267853.10_7
Gencode Gene: ENSG00000263155.7_12
Transcript (Including UTRs)
   Position: hg19 chr15:57,884,102-57,977,562 Size: 93,461 Total Exon Count: 13 Strand: +
Coding Region
   Position: hg19 chr15:57,884,233-57,976,696 Size: 92,464 Coding Exon Count: 13 

Page IndexSequence and LinksUniProtKB CommentsPrimersGene AllelesRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
Other NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr15:57,884,102-57,977,562)mRNA (may differ from genome)Protein (466 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsHGNC
MGIOMIMPubMedUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: MYZAP_HUMAN
DESCRIPTION: RecName: Full=Myocardial zonula adherens protein; AltName: Full=GRINL1A upstream protein; Short=Gup; Flags: Precursor;
FUNCTION: Plays a role in cellular signaling via Rho-related GTP- binding proteins and subsequent activation of transcription factor SRF (By similarity). Targets TJP1 to cell junctions. In cortical neurons, may play a role in glutaminergic signal transduction through interaction with the NMDA receptor subunit GRIN1 (By similarity).
SUBUNIT: Interacts with DSP, MPRIP and TJP1/ZO1. Interaction with MPRIP inhibits the activation of transcription factor SRF (By similarity). Interacts with GRIN1. Interacts with DYNLL1.
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton (By similarity). Cell membrane; Peripheral membrane protein; Cytoplasmic side (By similarity). Cytoplasm, myofibril, sarcomere, I band (By similarity). Cytoplasm, myofibril, sarcomere, Z line (By similarity). Cell junction. Note=Detected predominantly at the intercalated disk in cardiomyocytes, and at low levels on sarcomeric Z disks. Colocalizes with F-actin. Colocalizes with cortical actin (By similarity).
TISSUE SPECIFICITY: Detected in heart, liver, skeletal muscle, placenta, small intestine, lung, prostate and testis.
MISCELLANEOUS: The adjacent MYZAP and POLR2M genes are part of a complex transcription unit. The respective transcripts derive from different promoters and are alternatively spliced. In human, some transcripts of the upstream promoter of MYZAP use exons of the downstream POLR2M gene.
SIMILARITY: Belongs to the MYZAP 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


+  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: 0.84 RPKM in Heart - Atrial Appendage
Total median expression: 1.70 RPKM



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

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -60.90131-0.465 Picture PostScript Text
3' UTR -237.20866-0.274 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
  SCOP Domains:
90257 - Myosin rod fragments
57997 - Tropomyosin

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2KXS - NMR MuPIT


ModBase Predicted Comparative 3D Structure on P0CAP1
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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:0005515 protein binding

Biological Process:
GO:0035556 intracellular signal transduction

Cellular Component:
GO:0005737 cytoplasm
GO:0005856 cytoskeleton
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0030018 Z disc
GO:0030054 cell junction
GO:0030864 cortical actin cytoskeleton
GO:0031234 extrinsic component of cytoplasmic side of plasma membrane
GO:0031674 I band


-  Descriptions from all associated GenBank mRNAs
  BC101645 - Homo sapiens GRINL1A complex locus, mRNA (cDNA clone MGC:126694 IMAGE:8069151), complete cds.
BC112148 - Homo sapiens GRINL1A complex locus, mRNA (cDNA clone MGC:138353 IMAGE:8327616), complete cds.
AK055535 - Homo sapiens cDNA FLJ30973 fis, clone HEART2000506, weakly similar to ENAMELIN.
JF419331 - Homo sapiens clone Gcom15B GRINL1A combined protein 15 (GCOM1) mRNA, complete cds.
FJ970029 - Homo sapiens myocardium-enriched Zo-associated protein mRNA, complete cds.
AY207459 - Homo sapiens GRINL1A upstream protein 1 precursor, mRNA, complete cds, alternatively spliced.
AY237639 - Homo sapiens GRINL1A upstream protein 2 precursor (GRINL1A) mRNA, complete cds, alternatively spliced.
AY334562 - Homo sapiens GRINL1A complex protein Gcom6 precursor (GRINL1A) mRNA, complete cds, alternatively spliced.
AY341345 - Homo sapiens GRINL1A combined protein Gcom11 precursor (GRINL1A) mRNA, complete cds, alternatively spliced.
AY353057 - Homo sapiens GRINL1A combined protein Gcom8 precursor (GRINL1A) mRNA, complete cds, alternatively spliced.
AY353060 - Homo sapiens GRINL1A combined protein Gcom13 precursor (GRINL1A) mRNA, complete cds, alternatively spliced.
AY207007 - Homo sapiens GRINL1A complex protein 1 Gcom1 precursor (GRINL1A) mRNA, complete cds, alternatively spliced.
AY208913 - Homo sapiens GRINL1A complex protein 2 precursor, mRNA, complete cds; alternatively spliced.
AY331564 - Homo sapiens GRINL1A combined protein Gcom10 precursor (GRINL1A) mRNA, complete cds, alternatively spliced.
AY333779 - Homo sapiens GRINL1A complex protein Gcom3 precursor (GRINL1A) mRNA, complete cds, alternatively spliced.
AY334560 - Homo sapiens GRINL1A complex protein Gcom4 precursor (GRINL1A) mRNA, complete cds, alternatively spliced.
AY334561 - Homo sapiens GRINL1A complex protein Gcom5 precursor (GRINL1A) mRNA, complete cds, alternatively spliced.
AY353058 - Homo sapiens GRINL1A combined protein Gcom9 precursor (GRINL1A) mRNA, complete cds, alternatively spliced.
AL833142 - Homo sapiens mRNA; cDNA DKFZp313C2240 (from clone DKFZp313C2240).
AL833028 - Homo sapiens mRNA; cDNA DKFZp666H158 (from clone DKFZp666H158).
JD270942 - Sequence 251966 from Patent EP1572962.
AY353056 - Homo sapiens GRINL1A combined protein Gcom7 precursor (GRINL1A) mRNA, exon 13 and partial cds, alternatively spliced.
AY350748 - Homo sapiens GRINL1A combined protein Gcom12 precursor (GRINL1A) mRNA, partial cds, alternatively spliced.
JD419711 - Sequence 400735 from Patent EP1572962.
JD304075 - Sequence 285099 from Patent EP1572962.
JD495060 - Sequence 476084 from Patent EP1572962.
JD074713 - Sequence 55737 from Patent EP1572962.
JD369145 - Sequence 350169 from Patent EP1572962.
JD461962 - Sequence 442986 from Patent EP1572962.
JD137567 - Sequence 118591 from Patent EP1572962.
JD048498 - Sequence 29522 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: D2E9U7, ENST00000267853.1, ENST00000267853.2, ENST00000267853.3, ENST00000267853.4, ENST00000267853.5, ENST00000267853.6, ENST00000267853.7, ENST00000267853.8, ENST00000267853.9, MYOZAP, MYZAP_HUMAN, NM_001018100, P0CAP1, Q6EER8, Q6EES2, Q6EEV3, Q6EF00, Q6EF01, Q6EF02, Q6EF46, Q6EFN8, Q6EM48, Q6K046, Q6K050, Q6K051, Q6ZQZ3, Q8NC58, Q8NCF3, Q96DI5, Q96JB7, Q96NF5, uc317ilr.1, uc317ilr.2
UCSC ID: ENST00000267853.10_7
RefSeq Accession: NM_001018100.5
Protein: P0CAP1 (aka MYZAP_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.