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

Gene ID: 100820829, updated on 17-Jun-2019

Summary

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
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; 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

Genomic context

See MYZAP in Genome Data Viewer
Location:
15q21.3
Exon count:
13
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 15 NC_000015.10 (57591904..57685364)
105 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 pseudogene Neighboring gene ribosomal protein S13 pseudogene 7 Neighboring gene GRINL1A complex locus 1 Neighboring gene uncharacterized LOC105370834 Neighboring gene RNA polymerase II subunit M

Genomic regions, transcripts, and products

Expression

  • Project title: 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

Phenotypes

NHGRI GWAS Catalog

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

General gene information

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
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
intracellular signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
intracellular signal transduction ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
I band IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
I band ISS
Inferred from Sequence or Structural Similarity
more info
 
Z disc IEA
Inferred from Electronic Annotation
more info
 
cell junction IEA
Inferred from Electronic Annotation
more info
 
cortical actin cytoskeleton IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
colocalizes_with cortical actin cytoskeleton ISS
Inferred from Sequence or Structural Similarity
more info
 
extrinsic component of cytoplasmic side of plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

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)

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_001018100.5NP_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
    P0CAP1
    UniProtKB/TrEMBL
    A0A024R5W4
    Related
    ENSP00000267853.5, ENST00000267853.10
    Conserved Domains (1) summary
    cl00459
    Location:267358
    MIT_CorA-like; metal ion transporter CorA-like divalent cation transporter superfamily
  2. NM_152451.7NP_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)
    AL833028, BC101645
    Consensus CDS
    CCDS42044.1
    UniProtKB/Swiss-Prot
    P0CAP1
    Related
    ENSP00000369939.4, ENST00000380565.8
    Conserved Domains (1) summary
    cl00459
    Location:267358
    MIT_CorA-like; metal ion transporter CorA-like divalent cation transporter superfamily

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p13 Primary Assembly

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