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

Gene ID: 76469, updated on 21-Apr-2024

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
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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_000079.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 31630 Neighboring gene STARR-positive B cell enhancer mm9_chr13:93756683-93756983 Neighboring gene predicted gene, 41019 Neighboring gene predicted gene, 31745 Neighboring gene RIKEN cDNA A630019I02 gene Neighboring gene CapStarr-seq enhancer MGSCv37_chr13:93864100-93864343 Neighboring gene CapStarr-seq enhancer MGSCv37_chr13:93864596-93864798 Neighboring gene predicted gene 4814 Neighboring gene STARR-seq mESC enhancer starr_35275 Neighboring gene STARR-seq mESC enhancer starr_35276 Neighboring gene terminal nucleotidyltransferase 2 Neighboring gene STARR-seq mESC enhancer starr_35278 Neighboring gene predicted gene, 41020

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Targeted (1)  1 citation
  • Endonuclease-mediated (3) 

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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 
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

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)

  1. NM_023821.3NP_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:33213409
    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:35043666
    SPRY; SPRY domain
    cl23765
    Location:31533277
    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

  1. NC_000079.7 Reference GRCm39 C57BL/6J

    Range
    93177221..93281278 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    UniProtKB/Swiss-Prot
    Q70KF4, Q70X91, Q9CV01, Q9CV02, Q9ER93, Q9ER96
    Conserved Domains (6) summary
    smart00502
    Location:31413265
    BBC; B-Box C-terminal domain
    PTZ00341
    Location:489640
    PTZ00341; Ring-infected erythrocyte surface antigen; Provisional
    PTZ00449
    Location:17622126
    PTZ00449; 104 kDa microneme/rhoptry antigen; Provisional
    PRK10263
    Location:373560
    PRK10263; DNA translocase FtsK; Provisional
    cd00063
    Location:33093397
    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:34923654
    SPRY; SPRY domain
  2. XM_036158219.1XP_036014112.1  cardiomyopathy-associated protein 5 isoform X2

    UniProtKB/Swiss-Prot
    Q70KF4, Q70X91, Q9CV01, Q9CV02, Q9ER93, Q9ER96
    Conserved Domains (3) summary
    smart00502
    Location:31533262
    BBC; B-Box C-terminal domain
    PTZ00449
    Location:17742138
    PTZ00449; 104 kDa microneme/rhoptry antigen; Provisional
    PRK10811
    Location:448621
    rne; ribonuclease E; Reviewed

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. 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.