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

    Gene ID: 66106, updated on 21-Apr-2024

    Summary

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    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. 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, Apr 2022]
    Expression
    Biased expression in heart adult (RPKM 48.1), testis adult (RPKM 5.2) and 2 other tissues See more
    Orthologs
    human all
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    Genomic context

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    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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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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    Related articles in PubMed

    1. SMPX Deficiency Causes Stereocilia Degeneration and Progressive Hearing Loss in CBA/CaJ Mice. Tu H, et al. Front Cell Dev Biol, 2021. PMID 34722533, Free PMC Article
    2. Overexpression of SMPX in adult skeletal muscle does not change skeletal muscle fiber type or size. Eftestøl E, et al. PLoS One, 2014. PMID 24936977, Free PMC Article
    3. Identification of a novel stretch-responsive skeletal muscle gene (Smpx). Kemp TJ, et al. Genomics, 2001 Mar 15. PMID 11401441
    4. Identification, mapping, and genomic structure of a novel X-chromosomal human gene (SMPX) encoding a small muscular protein. Patzak D, et al. Hum Genet, 1999 Nov. PMID 10598820
    5. Muscle costameric protein, Chisel/Smpx, associates with focal adhesion complexes and modulates cell spreading in vitro via a Rac1/p38 pathway. Schindeler A, et al. Exp Cell Res, 2005 Jul 15. PMID 15893749

    See all (54) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Mice carrying a mesenchymal-specific deletion of CSL/RBP-Jkappa, a key Notch effector, exhibit spontaneous multifocal keratinocyte tumors that develop after dermal atrophy and inflammation.
      Title: Multifocal epithelial tumors and field cancerization from loss of mesenchymal CSL signaling.
    2. Csl localizes to the costameric cytoskeleton of muscle cells through an association with focal adhesion proteins, where it may participate in regulation of cytoskeletal dynamics through the Rac1-p38 pathway.
      Title: Muscle costameric protein, Chisel/Smpx, associates with focal adhesion complexes and modulates cell spreading in vitro via a Rac1/p38 pathway.
    3. In knockout mice, mutates to no overt phenotype. Overexpression in C2C12 cells alters cell shape, migration and responsiveness to IGF signaling.
      Title: The small muscle-specific protein Csl modifies cell shape and promotes myocyte fusion in an insulin-like growth factor 1-dependent manner.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

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

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    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

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

    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_001252591.2 → NP_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:1 → 82
      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.
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9DC77.2 GenPept UniProtKB/Swiss-Prot:Q9DC77

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
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