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Aliases for MYZAP Gene

Aliases for MYZAP Gene

  • Myocardial Zonula Adherens Protein 2 3 5
  • Myocardium-Enriched Zonula Adherens Protein 2 3
  • GRINL1A Upstream Protein 3 4
  • MYOZAP 3 4
  • Gup 3 4
  • Myocardium-Enriched Zonula Occludens-1-Associated Protein 3
  • Myocardium-Enriched ZO1-Associated Protein 3
  • Myocardial Intercalated Disc Protein 3
  • GRINL1A Complex Locus Upstream 3
  • GCOM1 3

External Ids for MYZAP Gene

Previous GeneCards Identifiers for MYZAP Gene

  • GC15P057887

Summaries for MYZAP Gene

Entrez Gene Summary for MYZAP Gene

  • This gene encodes a protein that is abundantly expressed in cardiac tissue. The encoded protein localizes to intercalated discs in cardiomyocytes and functions as an activator of Rho-dependent serum-response factor signaling. Alternative splicing results in multiple transcript variants. Readthrough transcription also exists between this gene and the neighboring downstream gene POLR2M (polymerase (RNA) II (DNA directed) polypeptide M) and is represented with GeneID: 145781. [provided by RefSeq, Mar 2014]

GeneCards Summary for MYZAP Gene

MYZAP (Myocardial Zonula Adherens Protein) is a Protein Coding gene. An important paralog of this gene is GCOM1.

UniProtKB/Swiss-Prot for MYZAP Gene

  • 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).

Additional gene information for MYZAP Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MYZAP Gene

Genomics for MYZAP Gene

Regulatory Elements for MYZAP Gene

Enhancers for MYZAP Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH15H057606 1.4 Ensembl ENCODE dbSUPER 11.7 +17.9 17920 6.1 TBP FOXA2 BRCA1 RAD21 RFX5 SCRT2 SMARCC2 RCOR1 FOS DEK GCOM1 MYZAP GC15M057616
GH15H057565 1.1 Ensembl ENCODE dbSUPER 14.1 -25.5 -25542 2.3 STAT1 JUN MAX USF2 EP300 JUND STAT3 FOS IKZF2 MYC MYZAP GCOM1 POLR2M CGNL1 RNU6-844P RPS13P7 GC15P057580
GH15H057591 1.3 Ensembl ENCODE dbSUPER 11.9 +4.1 4149 10.1 CEBPG ZIC2 IRF9 ZFHX2 GLIS2 POLR2A EGR1 FOS TCF7L2 EZH2 GCOM1 MYZAP RNU6-844P GC15M057616
GH15H057619 0.9 ENCODE dbSUPER 12.9 +28.0 28047 1.1 CTCF CEBPB MAX CEBPG RAD21 YY1 JUND ATF3 CEBPA HNF4G GCOM1 MYZAP GC15M057616
GH15H057560 1.6 FANTOM5 Ensembl ENCODE dbSUPER 6.9 -30.5 -30465 2.5 FOXA2 BATF ZNF2 RAD21 RFX5 ZNF143 ATF7 RCOR1 ETV6 IKZF2 GCOM1 POLR2M CGNL1 MYZAP RPS13P7 GC15P057580
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MYZAP on UCSC Golden Path with GeneCards custom track

Promoters for MYZAP Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000077099 296 801 MAZ REST ZBTB8A ZNF398 ZIC2 OSR2 ZFP69B ZFHX2 GLIS2 ZNF692

Genomic Locations for MYZAP Gene

Genomic Locations for MYZAP Gene
chr15:57,591,904-57,685,364
(GRCh38/hg38)
Size:
93,461 bases
Orientation:
Plus strand
chr15:57,884,139-57,977,562
(GRCh37/hg19)

Genomic View for MYZAP Gene

Genes around MYZAP on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MYZAP Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MYZAP Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MYZAP Gene

Proteins for MYZAP Gene

  • Protein details for MYZAP Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P0CAP1-MYZAP_HUMAN
    Recommended name:
    Myocardial zonula adherens protein
    Protein Accession:
    P0CAP1
    Secondary Accessions:
    • D2E9U7
    • Q6EER8
    • Q6EES2
    • Q6EEV3
    • Q6EF00
    • Q6EF01
    • Q6EF02
    • Q6EF46
    • Q6EFN8
    • Q6EM48
    • Q6K046
    • Q6K050
    • Q6K051
    • Q6ZQZ3
    • Q8NC58
    • Q8NCF3
    • Q96DI5
    • Q96JB7
    • Q96NF5

    Protein attributes for MYZAP Gene

    Size:
    466 amino acids
    Molecular mass:
    54206 Da
    Quaternary structure:
    • 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.
    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.

    Three dimensional structures from OCA and Proteopedia for MYZAP Gene

    Alternative splice isoforms for MYZAP Gene

neXtProt entry for MYZAP Gene

Post-translational modifications for MYZAP Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MYZAP Gene

No data available for DME Specific Peptides for MYZAP Gene

Domains & Families for MYZAP Gene

Gene Families for MYZAP Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for MYZAP Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

P0CAP1

UniProtKB/Swiss-Prot:

MYZAP_HUMAN :
  • Belongs to the MYZAP family.
Family:
  • Belongs to the MYZAP family.
genes like me logo Genes that share domains with MYZAP: view

No data available for Suggested Antigen Peptide Sequences for MYZAP Gene

Function for MYZAP Gene

Molecular function for MYZAP Gene

UniProtKB/Swiss-Prot 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).

Phenotypes From GWAS Catalog for MYZAP Gene

Gene Ontology (GO) - Molecular Function for MYZAP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 20412299
genes like me logo Genes that share ontologies with MYZAP: view

Phenotypes for MYZAP Gene

GenomeRNAi human phenotypes for MYZAP:
genes like me logo Genes that share phenotypes with MYZAP: view

Animal Model Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MYZAP Gene

Localization for MYZAP Gene

Subcellular locations from UniProtKB/Swiss-Prot for MYZAP Gene

Cytoplasm, cytoskeleton. Cell membrane; Peripheral membrane protein; Cytoplasmic side. Cytoplasm, myofibril, sarcomere, I band. Cytoplasm, myofibril, sarcomere, Z line. 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. {ECO:0000250 UniProtKB:Q5EB94}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MYZAP gene
Compartment Confidence
plasma membrane 4
cytoskeleton 3

Gene Ontology (GO) - Cellular Components for MYZAP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton IEA --
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with MYZAP: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for MYZAP Gene

Pathways & Interactions for MYZAP Gene

SuperPathways for MYZAP Gene

No Data Available

Gene Ontology (GO) - Biological Process for MYZAP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0035556 intracellular signal transduction IEA,ISS --
genes like me logo Genes that share ontologies with MYZAP: view

No data available for Pathways by source and SIGNOR curated interactions for MYZAP Gene

Drugs & Compounds for MYZAP Gene

No Compound Related Data Available

Transcripts for MYZAP Gene

mRNA/cDNA for MYZAP Gene

(2) REFSEQ mRNAs :
(4) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for MYZAP Gene

No ASD Table

Relevant External Links for MYZAP Gene

GeneLoc Exon Structure for
MYZAP
ECgene alternative splicing isoforms for
MYZAP

Expression for MYZAP Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MYZAP Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MYZAP Gene

This gene is overexpressed in Heart - Atrial Appendage (x22.2), Heart - Left Ventricle (x12.1), and Esophagus - Muscularis (x5.0).

Protein differential expression in normal tissues from HIPED for MYZAP Gene

This gene is overexpressed in Urinary Bladder (42.3) and Cervix (14.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for MYZAP Gene



Protein tissue co-expression partners for MYZAP Gene

NURSA nuclear receptor signaling pathways regulating expression of MYZAP Gene:

MYZAP

mRNA Expression by UniProt/SwissProt for MYZAP Gene:

P0CAP1-MYZAP_HUMAN
Tissue specificity: Detected in heart, liver, skeletal muscle, placenta, small intestine, lung, prostate and testis.

Evidence on tissue expression from TISSUES for MYZAP Gene

  • Heart(4)
  • Lung(4)
  • Nervous system(4)
genes like me logo Genes that share expression patterns with MYZAP: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for MYZAP Gene

Orthologs for MYZAP Gene

This gene was present in the common ancestor of chordates.

Orthologs for MYZAP Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GCOM1 33
  • 99.57 (n)
cow
(Bos Taurus)
Mammalia MYZAP 34
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MYZAP 33 34
  • 90.35 (n)
rat
(Rattus norvegicus)
Mammalia Gcom1 33
  • 86.84 (n)
mouse
(Mus musculus)
Mammalia Myzap 33 16 34
  • 86.34 (n)
Gcom1 34
  • 72 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 82 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 67 (a)
OneToMany
chicken
(Gallus gallus)
Aves -- 34
  • 38 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 38 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii polr2m 34
  • 29 (a)
OneToMany
Species where no ortholog for MYZAP was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for MYZAP Gene

ENSEMBL:
Gene Tree for MYZAP (if available)
TreeFam:
Gene Tree for MYZAP (if available)

Paralogs for MYZAP Gene

Paralogs for MYZAP Gene

(1) SIMAP similar genes for MYZAP Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with MYZAP: view

Variants for MYZAP Gene

Sequence variations from dbSNP and Humsavar for MYZAP Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type
rs1000032553 -- 57,643,702(+) TGTTT(A/G)GCTGA intron-variant
rs1000038178 -- 57,663,853(+) ATCAA(C/T)TTGAT intron-variant
rs1000072204 -- 57,606,881(+) AGCTT(G/T)GAACA intron-variant
rs1000100693 -- 57,626,855(+) GCCTC(A/G)TGTTT intron-variant
rs1000142281 -- 57,640,836(+) GGCCA(C/T)GCACG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for MYZAP Gene

Variant ID Type Subtype PubMed ID
nsv94840 CNV deletion 16902084
nsv7266 OTHER inversion 18451855
nsv476074 CNV novel sequence insertion 20440878
nsv473762 CNV novel sequence insertion 20440878
nsv1054547 CNV gain 25217958
nsv1045611 CNV gain 25217958
esv3636613 CNV loss 21293372
dgv150n21 CNV loss 19592680

Variation tolerance for MYZAP Gene

Residual Variation Intolerance Score: 84.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.60; 82.62% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MYZAP Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MYZAP

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MYZAP Gene

Disorders for MYZAP Gene

Relevant External Links for MYZAP

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MYZAP

No disorders were found for MYZAP Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for MYZAP Gene

Publications for MYZAP Gene

  1. Myozap, a novel intercalated disc protein, activates serum response factor-dependent signaling and is required to maintain cardiac function in vivo. (PMID: 20093627) Seeger TS … Frey N (Circulation research 2010) 2 3 4 60
  2. The plaque protein myozap identified as a novel major component of adhering junctions in endothelia of the blood and the lymph vascular systems. (PMID: 21992629) Pieperhoff S … Franke WW (Journal of cellular and molecular medicine 2012) 2 3 60
  3. Protein myozap--a late addition to the molecular ensembles of various kinds of adherens junctions. (PMID: 22160502) Rickelt S … Franke WW (Cell and tissue research 2011) 2 3 60
  4. Cdc42-dependent formation of the ZO-1/MRCKβ complex at the leading edge controls cell migration. (PMID: 21240187) Huo L … Zhang M (The EMBO journal 2011) 3 4 60
  5. Structural basis for the interaction between dynein light chain 1 and the glutamate channel homolog GRINL1A. (PMID: 20412299) García-Mayoral MF … Bruix M (The FEBS journal 2010) 3 4 60

Products for MYZAP Gene

Sources for MYZAP Gene

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