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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
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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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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