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    Smpx small muscle protein, X-linked [ Mus musculus (house mouse) ]

    Gene ID: 66106, updated on 27-Nov-2024

    Summary

    Official Symbol
    Smpxprovided by MGI
    Official Full Name
    small muscle protein, X-linkedprovided by MGI
    Primary source
    MGI:MGI:1913356
    See related
    Ensembl:ENSMUSG00000041476 AllianceGenome:MGI:1913356
    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
    Csl; 1010001C09Rik
    Summary
    Located in muscle tendon junction; myofibril; and nucleus. Is expressed in several structures, including alimentary system; heart; limb; respiratory system; and sensory organ. Used to study X-linked deafness 4. Human ortholog(s) of this gene implicated in X-linked deafness 4. Orthologous to human SMPX (small muscle protein X-linked). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in heart adult (RPKM 48.1), testis adult (RPKM 5.2) and 2 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See Smpx in Genome Data Viewer
    Location:
    X F4; X 72.67 cM
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) X NC_000086.8 (156481969..156535587)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) X NC_000086.7 (157698973..157752591)

    Chromosome X - NC_000086.8Genomic Context describing neighboring genes Neighboring gene predicted gene 15173 Neighboring gene STARR-seq mESC enhancer starr_48159 Neighboring gene protein Hikeshi pseudogene Neighboring gene predicted gene 15169 Neighboring gene STARR-seq mESC enhancer starr_48160 Neighboring gene kelch-like 34

    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)

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Component Evidence Code Pubs
    is_active_in M band IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in M band IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in contractile muscle fiber IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in costamere IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in costamere IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in muscle tendon junction IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in muscle tendon junction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    small muscular protein
    Names
    cardiac and skeletal muscle protein
    chisel protein
    stretch-responsive skeletal muscle protein

    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_001252591.2NP_001239520.1  small muscular protein

      See identical proteins and their annotated locations for NP_001239520.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) encodes the functional protein.
      Source sequence(s)
      AI035961, AL731811, BQ176246
      Consensus CDS
      CCDS41190.1
      UniProtKB/Swiss-Prot
      A2RT38, Q4QRM9, Q8CEX8, Q9DC77, Q9ER98
      Related
      ENSMUSP00000108140.2, ENSMUST00000112521.8
      Conserved Domains (1) summary
      pfam15355
      Location:182
      Chisel; Stretch-responsive small skeletal muscle X protein, Chisel

    RNA

    1. NR_045569.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) includes an additional exon in the central region and near the 3' end compared to variant 2. This variant is represented as non-coding because the use of the supported start codon, as used in variant 2, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AL731811, BQ176246, W18646
    2. NR_103722.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) includes an additional exon near the 3' end compared to variant 2. This variant is represented as non-coding because the use of the supported start codon, as used in variant 2, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AL731811, BC061051, BQ176246

    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_000086.8 Reference GRCm39 C57BL/6J

      Range
      156481969..156535587
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_387086.4 RNA Sequence

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_025357.3: Suppressed sequence

      Description
      NM_025357.3: This RefSeq was permanently suppressed because the transcript is a nonsense-mediated mRNA decay (NMD) candidate when it uses a supported upstream start codon.