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MYZAP Gene

protein-coding   GIFtS: 29
GCID: GC15P057887

Myocardial Zonula Adherens Protein

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disease database 

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Myocardial Zonula Adherens Protein1 2     GRINL1A Complex Locus Upstream2
MYOZAP2 3 5     Myocardial Intercalated Disc Protein2
Myocardium-Enriched Zonula Adherens Protein1 2     Myocardium-Enriched ZO1-Associated Protein2
Gup2 3     Myocardium-Enriched Zonula Occludens-1-Associated Protein2
GRINL1A Upstream Protein2 3     GUP5
GCOM12 5     

External Ids:    HGNC: 434441   Entrez Gene: 1008208292   Ensembl: ENSG000002631557   OMIM: 6140715   UniProtKB: P0CAP13   

Export aliases for MYZAP gene to outside databases


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 TUFT1.

UniProtKB/Swiss-Prot: MYZAP_HUMAN, P0CAP1
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)




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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Regulatory elements:
   Search for regulatory transcription factor binding sites for MYZAP
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for MYZAP

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MYZAP


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 15q21.3   Ensembl cytogenetic band:  15q21.3   HGNC cytogenetic band: 15q21.3

MYZAP Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MYZAP gene location

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15P057887:  view genomic region     (about GC identifiers)

Start:
57,884,139 bp from pter      End:
57,977,562 bp from pter
Size:
93,424 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: MYZAP_HUMAN, P0CAP1 (See protein sequence)
Recommended Name: Myocardial zonula adherens protein precursor  
Size: 466 amino acids; 54206 Da
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
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
1 PDB 3D structure from and Proteopedia for MYZAP:
2KXS (3D)    
Secondary accessions: D2E9U7 Q6EER8 Q6EES2 Q6EEV3 Q6EF00 Q6EF01 Q6EF02 Q6EF46 Q6EFN8 Q6EM48
Q6K046 Q6K050 Q6K051 Q6ZQZ3 Q8NC58 Q8NCF3 Q96DI5 Q96JB7 Q96NF5
Alternative splicing: 11 isoforms:  P0CAP1-1   P0CAP1-2   P0CAP1-3   P0CAP1-4   P0CAP1-5   P0CAP1-6   P0CAP1-7   P0CAP1-8   
P0CAP1-9   P0CAP1-10   P0CAP1-11   (Based on a naturally occurring readthrough transcript which produces a MYZAP-POLR2M fusion protein)

Explore the universe of human proteins at neXtProt for MYZAP: NX_P0CAP1

Explore proteomics data for MYZAP at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See MYZAP Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001018110.1  NP_689664.3  

    ENSEMBL proteins: 
     ENSP00000267853   ENSP00000369939   ENSP00000457126   ENSP00000431396  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR028273 Myozap

    Graphical View of Domain Structure for InterPro Entry P0CAP1

    ProtoNet protein and cluster: P0CAP1

    UniProtKB/Swiss-Prot: MYZAP_HUMAN, P0CAP1
    Similarity: Belongs to the MYZAP family


    Find genes that share domains with MYZAP           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MYZAP_HUMAN, P0CAP1
    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)

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI--
         
    Find genes that share ontologies with MYZAP           About GenesLikeMe


    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for MYZAP

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    MYZAP_HUMAN, P0CAP1: 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)

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0030018Z disc IEA--
    GO:0030054cell junction IEA--
    GO:0030864colocalizes with cortical actin cytoskeleton ISS--
    GO:0031234extrinsic component of cytoplasmic side of plasma membrane ISS--
    GO:0031674I band ISS--

    Find genes that share ontologies with MYZAP           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for MYZAP
    Interactions:

        Search GeneGlobe Interaction Network for MYZAP

    Selected Interacting proteins for MYZAP (P0CAP11, 2, 3) via UniProtKB, MINT, STRING, and/or I2D (see all 31)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DYNLL1P631671, 2, 3EBI-7929343,EBI-349105 MINT-7713307 MINT-7713382 MINT-7713439 MINT-7713280 MINT-7713396 MINT-7713416 I2D: score=1 
    AHSPQ9NZD42, 3MINT-65214 I2D: score=4 
    APODP050902, 3MINT-65205 I2D: score=4 
    CEBPGP535672, 3MINT-67959 I2D: score=4 
    HIGD1BQ9P2982, 3MINT-65215 I2D: score=4 
    About this table

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0035556intracellular signal transduction ISS--

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    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
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      Browse compounds at ApexBio 

    Browse Tocris compounds for MYZAP



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for MYZAP gene (2 alternative transcripts): 
    NM_001018100.4  NM_152451.7  

    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000267853 ENST00000380565 ENST00000569089 ENST00000461709
    miRNA
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    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    MYZAP expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    MYZAP Expression
    About this image

    MYZAP Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MYZAP Protein Expression

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

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    In Situ
    Assay Products:
     

     
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for MYZAP gene from Selected species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Myzap1 myocardial zonula adherens protein 86.34(n)
    89.91(a)
      102371  NM_001033208.4  NP_001028380.1 
    chicken
    (Gallus gallus)
    Aves --
    Uncharacterized protein
    38(a)
    1 → many
    10(6744850-6797479)
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    38(a)
    1 → many
    GL343573.1(315955-338829)
    zebrafish
    (Danio rerio)
    Actinopterygii polr2m6
    polymerase (RNA) II (DNA directed) polypeptide M
    29(a)
    1 → many
    7(53845600-53872857) ENSDARG00000075017


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for MYZAP gene
    TUFT12  GCOM12  POLR2M2  
    1 SIMAP similar gene for MYZAP using alignment to 1 protein entry:     MYZAP_HUMAN:
    GCOM1

    Find genes that share paralogs with MYZAP           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    1 SNPs for MYZAP    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs169776291,2,4
    ----see VAR_0554532 mis40--------

    HapMap Linkage Disequilibrium report for MYZAP (57884139 - 57977562 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for MYZAP: --
    Site Specific Mutation Identification with PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing MYZAP
    DNA2.0 Custom Variant and Variant Library Synthesis for MYZAP

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 614071    OMIM disorders: --


    Find genes that share disorders with MYZAP           About GenesLikeMe


    Export disorders for MYZAP gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for MYZAP gene, integrated from 10 sources (see all 13):
    (articles sorted by number of sources associating them with MYZAP)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Myozap, a novel intercalated disc protein, activates serum response factor-dependent signaling and is required to maintain cardiac function in vivo. (PubMed id 20093627)1, 2, 3 Seeger T.S.... Frey N. (Circ. Res. 2010)
    2. The plaque protein myozap identified as a novel major component of adhering junctions in endothelia of the blood and the lymph vascular systems. (PubMed id 21992629)1, 3 Pieperhoff S....Franke W.W. (J. Cell. Mol. Med. 2012)
    3. Protein myozap--a late addition to the molecular ensembles of various kinds of adherens junctions. (PubMed id 22160502)1, 3 Rickelt S....Franke W.W. (Cell Tissue Res. 2011)
    4. Cdc42-dependent formation of the ZO-1/MRCKbeta complex at the leading edge controls cell migration. (PubMed id 21240187)1, 2 Huo L.... Zhang M. (EMBO J. 2011)
    5. Structural basis for the interaction between dynein light chain 1 and the glutamate channel homolog GRINL1A. (PubMed id 20412299)1, 2 Garcia-Mayoral M.F.... Bruix M. (FEBS J. 2010)
    6. GRINL1A colocalizes with N-methyl D-aspartate receptor NR1 subunit and reduces N-methyl D-aspartate toxicity. (PubMed id 18849881)1, 2 Roginski R.S....Yang J. (NeuroReport 2008)
    7. The human GRINL1A gene defines a complex transcription unit, an unusual form of gene organization in eukaryotes. (PubMed id 15233991)1, 2 Roginski R.S.... Rowen L. (Genomics 2004)
    8. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    9. Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project. (PubMed id 21347282)1 Lettre G....Boerwinkle E. (PLoS Genet. 2011)
    10. A quantitative atlas of mitotic phosphorylation. (PubMed id 18669648)2 Dephoure N.... Gygi S.P. (Proc. Natl. Acad. Sci. U.S.A. 2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 100820829 HGNC: 43444 Ensembl:ENSG00000263155 euGenes: HUgn100820829 ECgene: MYZAP
    H-InvDB: MYZAP

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for MYZAP Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for MYZAP gene:
    Search GeneIP for patents involving MYZAP

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from genOway)
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    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014 , 7 Oct 2014

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