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    Sspn sarcospan [ Mus musculus (house mouse) ]

    Gene ID: 16651, updated on 2-Nov-2024

    Summary

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    Official Symbol
    Sspnprovided by MGI
    Official Full Name
    sarcospanprovided by MGI
    Primary source
    MGI:MGI:1353511
    See related
    Ensembl:ENSMUSG00000030255 AllianceGenome:MGI:1353511
    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
    Krag; Gm32675
    Summary
    Located in sarcolemma. Is expressed in early conceptus; secondary oocyte; and skin. Orthologous to human SSPN (sarcospan). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in heart adult (RPKM 26.2), bladder adult (RPKM 15.9) and 13 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Sspn in Genome Data Viewer
    Location:
    6 G3; 6 77.7 cM
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 6 NC_000072.7 (145860423..145910951)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 6 NC_000072.6 (145931873..145965225)

    Chromosome 6 - NC_000072.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 38927 Neighboring gene VISTA enhancer mm1548 Neighboring gene basic helix-loop-helix family, member e41 Neighboring gene STARR-positive B cell enhancer mm9_chr6:145832170-145832470 Neighboring gene STARR-positive B cell enhancer ABC_E10420 Neighboring gene STARR-seq mESC enhancer starr_17793 Neighboring gene predicted gene, 32838 Neighboring gene predicted gene, 38928 Neighboring gene predicted gene, 32914

    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 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. Sarcospan Deficiency Increases Oxidative Stress and Arrhythmias in Hearts after Acute Ischemia-Reperfusion Injury. Hwang HS, et al. Int J Mol Sci, 2023 Jul 24. PMID 37511627, Free PMC Article
    2. Sarcospan-deficient mice maintain normal muscle function. Lebakken CS, et al. Mol Cell Biol, 2000 Mar. PMID 10669744, Free PMC Article
    3. Structural and functional analysis of the sarcoglycan-sarcospan subcomplex. Miller G, et al. Exp Cell Res, 2007 Feb 15. PMID 17223103, Free PMC Article
    4. Gene expression in mouse brain following chronic hypoxia: role of sarcospan in glial cell death. Zhou D, et al. Physiol Genomics, 2008 Feb 19. PMID 18056785
    5. Amplified DNA in Y1 mouse adrenal tumor cells: isolation of cDNAs complementary to an amplified c-Ki-ras gene and localization of homologous sequences to mouse chromosome 6. George DL, et al. Nucleic Acids Res, 1984 Mar 26. PMID 6546797, Free PMC Article

    See all (39) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Sarcospan Deficiency Increases Oxidative Stress and Arrhythmias in Hearts after Acute Ischemia-Reperfusion Injury.
      Title: Sarcospan Deficiency Increases Oxidative Stress and Arrhythmias in Hearts after Acute Ischemia-Reperfusion Injury.
    2. Loss of sarcospan exacerbates pathology in mdx mice, but does not affect utrophin amelioration of disease.
      Title: Loss of sarcospan exacerbates pathology in mdx mice, but does not affect utrophin amelioration of disease.
    3. An alternatively spliced isoform of sarcospan localizes to the sarcoplasmic reticulum in skeletal muscle. It is absent in Sgcd-/- skeletal muscle, a murine model for limb girdle muscular dystrophy 2F.
      Title: Nanospan, an alternatively spliced isoform of sarcospan, localizes to the sarcoplasmic reticulum in skeletal muscle and is absent in limb girdle muscular dystrophy 2F.
    4. these results demonstrate that SSPN overexpression is well tolerated in mdx mice and improves sarcolemma defects that underlie skeletal muscle and pulmonary dysfunction in Duchenne muscular dystrophy
      Title: High levels of sarcospan are well tolerated and act as a sarcolemmal stabilizer to address skeletal muscle and pulmonary dysfunction in DMD.
    5. regulates cardiac isoproterenol response and prevents Duchenne muscular dystrophy-associated cardiomyopathy
      Title: Sarcospan Regulates Cardiac Isoproterenol Response and Prevents Duchenne Muscular Dystrophy-Associated Cardiomyopathy.
    6. Sarcospan-mediated amelioration of muscular dystrophy in mouse model is dependent on the presence of both utrophin and alpha7beta1 integrin.
      Title: Sarcospan integration into laminin-binding adhesion complexes that ameliorate muscular dystrophy requires utrophin and α7 integrin.
    7. SSPN is a necessary component of dystrophin and Utr function and that SSPN modulation of integrin signaling is required for extracellular matrix attachment and muscle force development.
      Title: Dystrophin and utrophin expression require sarcospan: loss of α7 integrin exacerbates a newly discovered muscle phenotype in sarcospan-null mice.
    8. Sarcospan-null mice displayed delayed differentiation after cardiotoxin injury caused by loss of utrophin and Akt signaling
      Title: Sarcospan-dependent Akt activation is required for utrophin expression and muscle regeneration.
    9. Sspn is downregulated in brain during hypoxia. Knockdown of Sspn increased cultured cell death under hypoxia.
      Title: Gene expression in mouse brain following chronic hypoxia: role of sarcospan in glial cell death.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (2) 
    • Gene trapped (1) 
    • Targeted (3)  1 citation

    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

    Function Evidence Code Pubs
    enables protein-containing complex binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of dystrophin-associated glycoprotein complex IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in postsynaptic membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in sarcolemma IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in sarcolemma IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in transport vesicle ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    sarcospan
    Names
    K-ras oncogene-associated protein
    Kras oncogene-associated
    kirsten-Ras-associated 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_001310837.1 → NP_001297766.1  sarcospan isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at a downstream start codon, compared to variant 1. It encodes isoform 2, which has a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AC144936, AK164529, CA558278, CF915662, CK333705
      Consensus CDS
      CCDS80637.1
      UniProtKB/TrEMBL
      E9Q8Y7
      Related
      ENSMUSP00000107331.2, ENSMUST00000111702.8
      Conserved Domains (1) summary
      pfam04103
      Location:9 → 107
      CD20; CD20-like family

    2. NM_010656.3 → NP_034786.1  sarcospan isoform 1

      See identical proteins and their annotated locations for NP_034786.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC144936
      Consensus CDS
      CCDS20698.1
      UniProtKB/Swiss-Prot
      Q60594, Q62147
      UniProtKB/TrEMBL
      Q3TPB3, Q3TRE0
      Related
      ENSMUSP00000032383.8, ENSMUST00000032383.14
      Conserved Domains (1) summary
      pfam04103
      Location:37 → 183
      CD20; CD20-like family

    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_000072.7 Reference GRCm39 C57BL/6J

      Range
      145860423..145910951
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_036165893.1 → XP_036021786.1  sarcospan isoform X2

      UniProtKB/TrEMBL
      E9Q8Y7
      Conserved Domains (1) summary
      pfam04103
      Location:9 → 107
      CD20; CD20-like family

    2. XM_006506916.5 → XP_006506979.1  sarcospan isoform X1

      Conserved Domains (1) summary
      pfam04103
      Location:4 → 120
      CD20; CD20-like family
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q62147.1 GenPept UniProtKB/Swiss-Prot:Q62147

    Gene LinkOut

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

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