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Sspn sarcospan [ Mus musculus (house mouse) ]

Gene ID: 16651, updated on 21-Apr-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, Apr 2022]
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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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
  • 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. 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
  2. Structural and functional analysis of the sarcoglycan-sarcospan subcomplex. Miller G, et al. Exp Cell Res, 2007 Feb 15. PMID 17223103, Free PMC Article
  3. Sarcospan-deficient mice maintain normal muscle function. Lebakken CS, et al. Mol Cell Biol, 2000 Mar. PMID 10669744, Free PMC Article
  4. Loss of sarcospan exacerbates pathology in mdx mice, but does not affect utrophin amelioration of disease. Gibbs EM, et al. Hum Mol Genet, 2021 Apr 26. PMID 33432327, Free PMC Article
  5. Sarcospan Regulates Cardiac Isoproterenol Response and Prevents Duchenne Muscular Dystrophy-Associated Cardiomyopathy. Parvatiyar MS, et al. J Am Heart Assoc, 2015 Dec 23. PMID 26702077, Free PMC Article

See all (37) 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.
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Variation

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Alleles

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

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 membrane 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 synapse IEA
Inferred from Electronic Annotation
more info
  
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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