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    MYZAP myocardial zonula adherens protein [ Homo sapiens (human) ]

    Gene ID: 100820829, updated on 2-Nov-2024

    Summary

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    Official Symbol
    MYZAPprovided by HGNC
    Official Full Name
    myocardial zonula adherens proteinprovided by HGNC
    Primary source
    HGNC:HGNC:43444
    See related
    Ensembl:ENSG00000263155 MIM:614071; AllianceGenome:HGNC:43444
    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
    Gup; CMD2K; GCOM1; MYOZAP
    Summary
    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]
    Expression
    Biased expression in heart (RPKM 228.1), fat (RPKM 55.5) and 5 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MYZAP in Genome Data Viewer
    Location:
    15q21.3
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (57591904..57685364)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (55394738..55488237)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (57884102..57977562)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene cingulin like 1 Neighboring gene 2-iminobutanoate/2-iminopropanoate deaminase-like Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:57788782-57789624 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr15:57819488-57820071 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9462 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9463 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:57838138-57838766 Neighboring gene Sharpr-MPRA regulatory region 1731 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:57846311-57846886 Neighboring gene ribosomal protein S13 pseudogene 7 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6473 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:57896294-57896868 Neighboring gene GCOM1, MYZAP-POLR2M combined locus Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6474 Neighboring gene uncharacterized LOC124903589 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9464 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6475 Neighboring gene uncharacterized LOC105370834 Neighboring gene RNA polymerase II subunit M Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr15:58043407-58044159 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:58044582-58045178

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    Related articles in PubMed

    1. Protein myozap--a late addition to the molecular ensembles of various kinds of adherens junctions. Rickelt S, et al. Cell Tissue Res, 2011 Dec. PMID 22160502
    2. The plaque protein myozap identified as a novel major component of adhering junctions in endothelia of the blood and the lymph vascular systems. Pieperhoff S, et al. J Cell Mol Med, 2012 Aug. PMID 21992629, Free PMC Article
    3. Structural basis for the interaction between dynein light chain 1 and the glutamate channel homolog GRINL1A. García-Mayoral MF, et al. FEBS J, 2010 May. PMID 20412299
    4. GRINL1A colocalizes with N-methyl D-aspartate receptor NR1 subunit and reduces N-methyl D-aspartate toxicity. Roginski RS, et al. Neuroreport, 2008 Nov 19. PMID 18849881
    5. Cdc42-dependent formation of the ZO-1/MRCKβ complex at the leading edge controls cell migration. Huo L, et al. EMBO J, 2011 Feb 16. PMID 21240187, Free PMC Article

    See all (12) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Readthrough GCOM1

    Readthrough gene: GCOM1, Included gene: POLR2M

    Homology

    Clone Names

    • FLJ30973, MGC126694, MGC138353, DKFZp666H158, DKFZp313C2240

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in intracellular signal transduction ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    is_active_in I band IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in I band ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    part_of RNA polymerase II, core complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in Z disc IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in anchoring junction IEA
    Inferred from Electronic Annotation
    more info
    		  
    colocalizes_with cortical actin cytoskeleton ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in cytoplasmic side of plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    myocardial zonula adherens protein
    Names
    GRINL1A complex locus upstream
    GRINL1A upstream protein
    myocardial intercalated disc protein
    myocardium-enriched ZO1-associated protein
    myocardium-enriched zonula adherens protein
    myocardium-enriched zonula occludens-1-associated protein

    NCBI Reference Sequences (RefSeq)

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    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.

    mRNA and Protein(s)

    1. NM_001018100.5 → NP_001018110.1  myocardial zonula adherens protein isoform 1 precursor

      See identical proteins and their annotated locations for NP_001018110.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1, also known as Gup1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC025271, AC090651, KF456061
      Consensus CDS
      CCDS10162.1
      UniProtKB/Swiss-Prot
      D2E9U7, P0CAP1
      Related
      ENSP00000267853.5, ENST00000267853.10
      Conserved Domains (1) summary
      cl00459
      Location:267 → 358
      MIT_CorA-like; metal ion transporter CorA-like divalent cation transporter superfamily

    2. NM_152451.8 → NP_689664.3  myocardial zonula adherens protein isoform 2

      See identical proteins and their annotated locations for NP_689664.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2, also known as Gup2) lacks an in-frame exon in the 3' coding region compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AC025271, AC090651, KF456061
      Consensus CDS
      CCDS42044.1
      UniProtKB/Swiss-Prot
      P0CAP1
      Related
      ENSP00000369939.4, ENST00000380565.8
      Conserved Domains (1) summary
      cl00459
      Location:267 → 358
      MIT_CorA-like; metal ion transporter CorA-like divalent cation transporter superfamily

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      57591904..57685364
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      55394738..55488237
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P0CAP1.1 GenPept UniProtKB/Swiss-Prot:P0CAP1

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Molecular Biology Databases
    Research Materials