Cmya5 cardiomyopathy associated 5 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Cmya5provided by MGI
Official Full Name: cardiomyopathy associated 5provided by MGI
Primary source: MGI:MGI:1923719
See related: Ensembl:ENSMUSG00000047419 AllianceGenome:MGI:1923719
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: Tims; Srfsd; sr553; 2310076E16Rik; 2310076E21Rik
Summary: Enables identical protein binding activity. Acts upstream of or within negative regulation of calcineurin-NFAT signaling cascade; negative regulation of phosphoprotein phosphatase activity; and regulation of skeletal muscle adaptation. Located in costamere. Is expressed in heart; skeletal muscle; and somite. Orthologous to human CMYA5 (cardiomyopathy associated 5). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in heart adult (RPKM 21.9), mammary gland adult (RPKM 4.3) and 1 other tissue See more
Orthologs: human all
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Genomic context

Location:: 13 C3; 13 47.81 cM

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	13	NC_000079.7 (93177221..93281278, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	13	NC_000079.6 (93040713..93144724, complement)

Chromosome 13 - NC_000079.7 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?

CMYA5 is a novel interaction partner of FHL2 in cardiac myocytes.
Title: CMYA5 is a novel interaction partner of FHL2 in cardiac myocytes.
CMYA5 SNP rs10043986 alters binding between myospryn and desmin, which provides a direct functional link between a common genetic variant to schizophrenia.
Title: A schizophrenia associated CMYA5 allele displays differential binding with desmin.
Results indicate that myospryn functions as a novel inhibitor of the calcineurin signaling pathway in skeletal muscle.
Title: Myospryn is a calcineurin-interacting protein that negatively modulates slow-fiber-type transformation and skeletal muscle regeneration.
reveal for the first time abnormalities in the protein kinase A signal transduction pathway and myospryn regulation in dystrophin deficiency
Title: Deregulated protein kinase A signaling and myospryn expression in muscular dystrophy.
perinuclear localization of the TRIM-like protein myospryn requires its binding partner desmin
Title: Proper perinuclear localization of the TRIM-like protein myospryn requires its binding partner desmin.
Functions directly downstream of MEF2A at the costamere in striated muscle potentially playing a role in myofibrillogenesis.
Title: Myospryn is a direct transcriptional target for MEF2A that encodes a striated muscle, alpha-actinin-interacting, costamere-localized protein.
Myospryn is a novel binding partner for dysbindin in muscle
Title: Myospryn is a novel binding partner for dysbindin in muscle.

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Variation

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Alleles

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

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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:495373

Cmya5 (e-PCR), detects polymorphism
- UniSTS:532538

AI504003 (e-PCR)
- UniSTS:160326

RH124386 (e-PCR)
- UniSTS:161208

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within negative regulation of calcineurin-NFAT signaling cascade	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within negative regulation of phosphoprotein phosphatase activity	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within regulation of skeletal muscle adaptation	IGI Inferred from Genetic Interaction more info	PubMed

Component	Evidence Code	Pubs
located_in costamere	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in intracellular membrane-bounded organelle	ISO Inferred from Sequence Orthology more info
located_in nuclear speck	ISO Inferred from Sequence Orthology more info
located_in nucleus	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
located_in sarcoplasmic reticulum	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: cardiomyopathy-associated protein 5

Names: TRIM-like protein; heart and skeletal muscle-specific and sprouty domain-containing; myospryn; stretch response protein 553; stretch-responsive fibronectin protein type 3

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_023821.3 → NP_076310.2 cardiomyopathy-associated protein 5

Status: VALIDATED

Source sequence(s)

AC130217, AC132463

Consensus CDS

CCDS49329.1

UniProtKB/Swiss-Prot

Q70KF4, Q70X91, Q9CV01, Q9CV02, Q9ER93, Q9ER96

UniProtKB/TrEMBL

E9QLJ0

Related

ENSMUSP00000050408.4, ENSMUST00000062122.4

Conserved Domains (3) summary

cd00063
Location:3321 → 3409

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

cl02614
Location:3504 → 3666

SPRY; SPRY domain

cl23765
Location:3153 → 3277

iSH2_PI3K_IA_R; Inter-Src homology 2 (iSH2) helical domain of Class IA Phosphoinositide 3-kinase Regulatory subunits

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000079.7 Reference GRCm39 C57BL/6J

Range

93177221..93281278 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036158218.1 → XP_036014111.1 cardiomyopathy-associated protein 5 isoform X1

UniProtKB/Swiss-Prot

Q70KF4, Q70X91, Q9CV01, Q9CV02, Q9ER93, Q9ER96

Conserved Domains (6) summary

smart00502
Location:3141 → 3265

BBC; B-Box C-terminal domain

PTZ00341
Location:489 → 640

PTZ00341; Ring-infected erythrocyte surface antigen; Provisional

PTZ00449
Location:1762 → 2126

PTZ00449; 104 kDa microneme/rhoptry antigen; Provisional

PRK10263
Location:373 → 560

PRK10263; DNA translocase FtsK; Provisional

cd00063
Location:3309 → 3397

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

cl02614
Location:3492 → 3654

SPRY; SPRY domain
XM_036158219.1 → XP_036014112.1 cardiomyopathy-associated protein 5 isoform X2

UniProtKB/Swiss-Prot

Q70KF4, Q70X91, Q9CV01, Q9CV02, Q9ER93, Q9ER96

Conserved Domains (3) summary

smart00502
Location:3153 → 3262

BBC; B-Box C-terminal domain

PTZ00449
Location:1774 → 2138

PTZ00449; 104 kDa microneme/rhoptry antigen; Provisional

PRK10811
Location:448 → 621

rne; ribonuclease E; Reviewed

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_028225.1: Suppressed sequence

Description

NM_028225.1: This RefSeq was suppressed temporarily based on the calculation that the annotated protein was shorter than a protein or proteins from a putative ortholog.