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    MYZAP myocardial zonula adherens protein [ Homo sapiens ]

    Gene ID: 100820829, updated on 12-May-2012
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    Summary

    Official Symbol
    MYZAPprovided by HGNC
    Official Full Name
    myocardial zonula adherens proteinprovided by HGNC
    Primary source
    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; Gup1; Gup2; GCOM1; MYOZAP; FLJ30973; MGC126694; MGC138353; DKFZp666H158; DKFZp313C2240
    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. Alternate splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the neighboring downstreamstream gene POLR2M (polymerase (RNA) II (DNA directed) polypeptide M). [provided by RefSeq, Nov 2011]
    Annotation information
    Annotation category: not annotated on reference assembly
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    Genomic context

    Location :
    15q21.3
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    Bibliography

    Related articles in PubMed

    1. 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, 2011 Oct 13. PMID 21992629.
    2. Myozap, a novel intercalated disc protein, activates serum response factor-dependent signaling and is required to maintain cardiac function in vivo. Seeger TS, et al. Circ Res, 2010 Mar 19. PMID 20093627.
    3. The human GRINL1A gene defines a complex transcription unit, an unusual form of gene organization in eukaryotes. Roginski RS, et al. Genomics, 2004 Aug. PMID 15233991.
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039.
    5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932.

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    Submit: New GeneRIF Correction
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    General gene information

    Markers

    Readthrough GCOM1

    Readthrough gene: GCOM1, Included gene: POLR2M
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    General protein information

    Preferred Names
    myocardium-enriched Zo-associated protein
    Names
    myocardium-enriched Zo-associated protein
    GRINL1A upstream protein
    myocardial intercalated disc protein
    myocardium-enriched zonula adherens protein
    myocardium-enriched zonula occludens-1-associated protein
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    NCBI Reference Sequences (RefSeq)

    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_001018100.3 → NP_001018110.1  myocardium-enriched Zo-associated protein isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AL833028, AY207459, AY237639, BC101645
      Consensus CDS
      CCDS10162.1
      UniProtKB/Swiss-Prot
      P0CAP1
      Related
      ENSP00000461898, ENST00000574161
      Conserved Domains (1) summary
      TIGR02168
      Location:105 – 354
      Blast Score: 139
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type

    2. NM_152451.6 → NP_689664.3  myocardium-enriched Zo-associated protein isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) 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)
      AL833028, AY237639, BC101645
      Consensus CDS
      CCDS42044.1
      UniProtKB/Swiss-Prot
      P0CAP1
      Related
      ENSP00000459294, ENST00000572390
      Conserved Domains (1) summary
      TIGR02168
      Location:105 – 398
      Blast Score: 147
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AC025271.7 (157229..191329) None
    genomic AC090651.3 (7713..67082) None
    mRNA AK055535.1 BAB70944.1
    mRNA AL833028.1 None
    mRNA AL833142.1 None
    mRNA AY207459.1 AAP41548.1
    mRNA AY237639.1 AAP75897.1
    mRNA BC101645.1 AAI01646.1
    mRNA BC112148.1 AAI12149.1
    mRNA FJ970029.1 ADA68358.1
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    Additional Links

    Gene LinkOut

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

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