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

    Gene ID: 76469, updated on 9-Dec-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 and protein phosphatase inhibitor activity. Acts upstream of or within negative regulation of calcineurin-NFAT signaling cascade 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, Dec 2024]
    Expression
    Biased expression in heart adult (RPKM 21.9), mammary gland adult (RPKM 4.3) and 1 other tissue See more
    Orthologs
    NEW
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    Genomic context

    See Cmya5 in Genome Data Viewer
    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)
    • Endonuclease-mediated (3) 
    • Targeted (1)  1 citation

    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 
    enables protein phosphatase inhibitor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in M band IEA
    Inferred from Electronic Annotation
    more info
     
    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 ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in perinuclear region of cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     
    located_in sarcoplasmic reticulum ISS
    Inferred from Sequence or Structural Similarity
    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)

    NEW Try the new Transcript table

    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.