Myzap myocardial zonula adherens protein [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Myzapprovided by MGI
Official Full Name: myocardial zonula adherens proteinprovided by MGI
Primary source: MGI:MGI:2142908
See related: Ensembl:ENSMUSG00000041361 AllianceGenome:MGI:2142908
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Gcom1; Gm640; Myozap; Gm20502; Grinl1a7
Summary: Predicted to enable RNA polymerase II complex binding activity. Involved in intracellular signal transduction. Located in I band and cytoplasmic side of plasma membrane. Colocalizes with cortical actin cytoskeleton. Is expressed in heart; lung; and vascular system. Orthologous to several human genes including MYZAP (myocardial zonula adherens protein). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in heart adult (RPKM 66.6), lung adult (RPKM 24.2) and 4 other tissues See more
Orthologs: human all
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Genomic context

Location:: 9 D; 9 39.85 cM

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	9	NC_000075.7 (71411629..71499642, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	9	NC_000075.6 (71504347..71592360, complement)

Chromosome 9 - NC_000075.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Cardiac overexpression of Myozap results in cardiomyopathy with hypertrophy and left ventricular dilation.
Title: Mice with cardiac-restricted overexpression of Myozap are sensitized to biomechanical stress and develop a protein-aggregate-associated cardiomyopathy.
Reveal myozap as a previously unrecognized component of a Rho-dependent signaling pathway that links the intercalated disc to cardiac gene regulation.
Title: Myozap, a novel intercalated disc protein, activates serum response factor-dependent signaling and is required to maintain cardiac function in vivo.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (3)
Gene trapped (1)
Targeted (1) 1 citation

General gene information

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Markers

43.MHAa63d7.seq (e-PCR)
- UniSTS:124480

D9Mit73 (e-PCR), detects polymorphism
- UniSTS:131960

RH125666 (e-PCR)
- UniSTS:162449

AV006038 (e-PCR)
- UniSTS:179928

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables RNA polymerase II complex binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in intracellular signal transduction	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
is_active_in I band	IBA Inferred from Biological aspect of Ancestor more info
located_in I band	IDA Inferred from Direct Assay more info	PubMed
part_of RNA polymerase II, core complex	IBA Inferred from Biological aspect of Ancestor more info
part_of RNA polymerase II, core complex	ISO Inferred from Sequence Orthology 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	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasmic side of plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in cytoskeleton	ISO Inferred from Sequence Orthology more info
located_in membrane	ISO Inferred from Sequence Orthology more info
located_in nuclear envelope	ISO Inferred from Sequence Orthology more info
part_of transcription preinitiation complex	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: myocardial zonula adherens protein

Names: GRINL1A complex locus protein 1

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)

NM_001033208.4 → NP_001028380.1 myocardial zonula adherens protein precursor

See identical proteins and their annotated locations for NP_001028380.1

Status: VALIDATED

Source sequence(s)

AC107662, AC160560

Consensus CDS

CCDS23327.1

UniProtKB/Swiss-Prot

B2RT00, Q3UIJ9

UniProtKB/TrEMBL

E9Q565

Related

ENSMUSP00000091342.2, ENSMUST00000093823.8

Conserved Domains (4) summary

pfam15619
Location:203 → 381

Lebercilin; Ciliary protein causing Leber congenital amaurosis disease

cd16269
Location:277 → 290

GBP_C; coiled coil [structural motif]

cl00459
Location:265 → 358

MIT_CorA-like; metal ion transporter CorA-like divalent cation transporter superfamily

cl20817
Location:205 → 310

GBP_C; Guanylate-binding protein, C-terminal domain