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    Sgce sarcoglycan, epsilon [ Mus musculus ]

    Gene ID: 20392, updated on 11-May-2012
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    Summary

    Official Symbol
    Sgceprovided by MGI
    Official Full Name
    sarcoglycan, epsilonprovided by MGI
    Primary source
    MGI:1329042
    See related
    Ensembl:ENSMUSG00000004631; Vega:OTTMUSG00000023184
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Sciurognathi; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    e-SG
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    Genomic context

    Location :
    6 A1; 6 1.0 cM
    Sequence :
    Chromosome: 6; NC_000072.6 (4674350..4747204, complement)
    See Sgce in Epigenomics, MapViewer

    Chromosome 6 - NC_000072.6Genomic Context describing neighboring genes Neighboring gene chitobiase, di-N-acetyl- pseudogene Neighboring gene CAS1 domain containing 1 Neighboring gene paternally expressed 10 Neighboring gene predicted pseudogene 9835

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. Abnormal nuclear envelopes in the striatum and motor deficits in DYT11 myoclonus-dystonia mouse models. Yokoi F, et al. Hum Mol Genet, 2012 Feb 15. PMID 22080833.
    2. Abnormal nuclear envelope in the cerebellar Purkinje cells and impaired motor learning in DYT11 myoclonus-dystonia mouse models. Yokoi F, et al. Behav Brain Res, 2012 Feb 1. PMID 22040906.
    3. Combined deficiency of alpha and epsilon sarcoglycan disrupts the cardiac dystrophin complex. Lancioni A, et al. Hum Mol Genet, 2011 Dec 1. PMID 21890494.
    4. Barx2 and Fgf10 regulate ocular glands branching morphogenesis by controlling extracellular matrix remodeling. Tsau C, et al. Development, 2011 Aug. PMID 21750040.
    5. Earlier onset of motor deficits in mice with double mutations in Dyt1 and Sgce. Yokoi F, et al. J Biochem, 2010 Oct. PMID 20627944.

    See all (34) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. The results suggest that varepsilon-sarcoglycan in the cerebellar Purkinje cells contributes to the motor learning, while loss of varepsilon-sarcoglycan in other brain regions may contribute to nuclear envelope abnormality, myoclonus and motor coordina...
      Title: Abnormal nuclear envelope in the cerebellar Purkinje cells and impaired motor learning in DYT11 myoclonus-dystonia mouse models.
    2. Sgca-;Sgce-null mouse shows a complete loss of residual sarcoglycans and a strong reduction in both dystrophin and dystroglycan.
      Title: Combined deficiency of alpha and epsilon sarcoglycan disrupts the cardiac dystrophin complex.
    3. Data describe mice carrying mutations in both Dyt1 and Sgce and show that these double mutant mice show earlier onset of motor deficits in beam-walking test.
      Title: Earlier onset of motor deficits in mice with double mutations in Dyt1 and Sgce.
    4. Sgce gene is imprinted, with exclusive expression from the paternal allele.
      Title: Exclusive paternal expression and novel alternatively spliced variants of epsilon-sarcoglycan mRNA in mouse brain.
    5. Data demonstrate a novel function of the sarcoglycan complex in whole body glucose homeostasis and skeletal muscle metabolism, suggesting that the impairment of the skeletal muscle metabolism influences the pathogenesis of muscular dystrophy.
      Title: Sarcoglycan complex: implications for metabolic defects in muscular dystrophies.
    6. High expression levels of epsilon-sarcoglycan mRNA and protein were found in the mitral cell layer of the olfactory bulb, the Purkinje cell layer in cerebellum, and the monoaminergic neurons in the mouse midbrain.
      Title: Epsilon-sarcoglycan immunoreactivity and mRNA expression in mouse brain.
    7. diverse symptoms associated with myoclonus-dystonia are indeed resulted from a single SGCE gene mutation that leads to alterations of dopaminergic and serotonergic systems.
      Title: Myoclonus, motor deficits, alterations in emotional responses and monoamine metabolism in epsilon-sarcoglycan deficient mice.
    8. These results suggest that the two epsilon-SG isoforms might play different roles in synaptic functions of the central nervous system.
      Title: Identification and characterization of epsilon-sarcoglycans in the central nervous system.
    Submit: New GeneRIF Correction
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    Alleles

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

    Products Interactant Other Gene Complex Source Pubs Description
    BioGRID:203196 BioGRID:108193 TOR1A    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:203196 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-Western 
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    General gene information

    Markers

    Genotypes

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
    		  
    dystrophin-associated glycoprotein complex ISO
    Inferred from Sequence Orthology
    more info
    		  
    integral to membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    integral to plasma membrane TAS
    Traceable Author Statement
    more info
    		 PubMed 
    membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    sarcoglycan complex IEA
    Inferred from Electronic Annotation
    more info
    		  
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    General protein information

    Preferred Names
    epsilon-sarcoglycan
    Names
    epsilon-sarcoglycan
    epsilon-SG
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    NCBI Reference Sequences (RefSeq)

    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_001130188.1 → NP_001123660.1  epsilon-sarcoglycan isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AF103877, AK076102, AW457608, BY336674
      Consensus CDS
      CCDS51718.1
      UniProtKB/Swiss-Prot
      O70258
      Related
      ENSMUSP00000111240, ENSMUST00000115577
      Conserved Domains (2) summary
      smart00736
      Location:87 – 192
      Blast Score: 165
      CADG; Dystroglycan-type cadherin-like domains.
      pfam05510
      Location:73 – 454
      Blast Score: 1329
      Sarcoglycan_2; Sarcoglycan alpha/epsilon

    2. NM_001130189.1 → NP_001123661.1  epsilon-sarcoglycan isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 3' UTR, lacks an alternate in-frame exon in both the 5' and mid coding regions, and includes an alternate exon in the 3' coding region, compared to variant 1. The resulting isoform (2) has a distinct C-terminus and is shorter than isoform 1.
      Source sequence(s)
      AB117975, AK076102, AW457608, BY336674
      UniProtKB/Swiss-Prot
      O70258
      UniProtKB/TrEMBL
      Q6L8N9
      Related
      ENSMUSP00000120910, OTTMUSP00000026940, ENSMUST00000123907, OTTMUST00000056132
      Conserved Domains (2) summary
      smart00736
      Location:51 – 156
      Blast Score: 163
      CADG; Dystroglycan-type cadherin-like domains.
      pfam05510
      Location:30 – 409
      Blast Score: 1283
      Sarcoglycan_2; Sarcoglycan alpha/epsilon

    3. NM_001130190.1 → NP_001123662.1  epsilon-sarcoglycan isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 3' UTR, lacks an alternate in-frame exon in the 5' coding region, and includes an alternate exon in the 3' coding region, compared to variant 1. The resulting isoform (3) has a distinct C-terminus and is shorter than isoform 1.
      Source sequence(s)
      AB200281, AF031919, AK076102, AW457608, BY336674
      Consensus CDS
      CCDS51717.1
      UniProtKB/TrEMBL
      E9PX46
      UniProtKB/Swiss-Prot
      O70258
      UniProtKB/TrEMBL
      Q4H438
      Related
      ENSMUSP00000099200, ENSMUST00000101677
      Conserved Domains (2) summary
      smart00736
      Location:51 – 156
      Blast Score: 163
      CADG; Dystroglycan-type cadherin-like domains.
      pfam05510
      Location:30 – 418
      Blast Score: 1331
      Sarcoglycan_2; Sarcoglycan alpha/epsilon

    4. NM_001130191.1 → NP_001123663.1  epsilon-sarcoglycan isoform 5

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) differs in the 3' UTR, lacks an alternate in-frame exon in both the 5' and mid coding regions, and includes an alternate exon in the 3' coding region, compared to variant 1. The resulting isoform (5) has a distinct C-terminus and is shorter than isoform 1.
      Source sequence(s)
      AB200282, AW457608, BY336674
      Consensus CDS
      CCDS51715.1
      UniProtKB/TrEMBL
      F8WGM3
      UniProtKB/TrEMBL
      Q4H437
      Related
      ENSMUSP00000004750, ENSMUST00000004750
      Conserved Domains (2) summary
      smart00736
      Location:51 – 156
      Blast Score: 162
      CADG; Dystroglycan-type cadherin-like domains.
      pfam05510
      Location:30 – 409
      Blast Score: 1281
      Sarcoglycan_2; Sarcoglycan alpha/epsilon

    5. NM_011360.3 → NP_035490.3  epsilon-sarcoglycan isoform 4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. The resulting isoform (4) is shorter than isoform 1.
      Source sequence(s)
      AF031919, AK076102, AW457608, BY336674
      Consensus CDS
      CCDS51716.1
      UniProtKB/Swiss-Prot
      O70258
      Related
      ENSMUSP00000111242, OTTMUSP00000026910, ENSMUST00000115579, OTTMUST00000056087
      Conserved Domains (2) summary
      smart00736
      Location:51 – 156
      Blast Score: 164
      CADG; Dystroglycan-type cadherin-like domains.
      pfam05510
      Location:30 – 418
      Blast Score: 1333
      Sarcoglycan_2; Sarcoglycan alpha/epsilon

    RefSeqs of Annotated Genomes: Build 38.1

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm38 C57BL/6J

    Genomic

    1. NC_000072.6 Reference GRCm38 C57BL/6J

      Range
      4674350..4747204, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate Mm_Celera

    Genomic

    1. AC_000028.1 Alternate Mm_Celera

      Range
      4817452..4890164, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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    Related Sequences

    Nucleotide Protein Strain
    Heading Accession and Version
    genomic AC084315.4 (9561..9946) None C57BL/6J
    genomic AC091395.4 (90959..163322) None C57BL/6J
    genomic CH466533.2 EDL13980.1 mixed
      EDL13981.1 mixed
    mRNA AB117975.1 BAD21207.1
    mRNA AB200281.1 BAE16175.1
    mRNA AB200282.1 BAE16176.1
    mRNA AF031919.1 AAC14020.1
    mRNA AF103877.1 AAF21895.1
    mRNA AK076102.1 BAC36184.1 C57BL/6J
    mRNA AK132210.1 BAE21034.1 C57BL/6J
    mRNA AK137613.1 None C57BL/6J
    mRNA AK215752.1 None
    mRNA AW457608.1 None C57BL/6J
    mRNA BC012665.1 AAH12665.1 CZECHII
    mRNA BY336674.1 None
    Protein Accession Links
    GenPept Link UniProtKB Link
    O70258.2 GenPept UniProtKB/Swiss-Prot:O70258
    Q3V1W5 GenPept UniProtKB/TrEMBL:Q3V1W5
    Q4H437 GenPept UniProtKB/TrEMBL:Q4H437
    Q4H438 GenPept UniProtKB/TrEMBL:Q4H438
    Q6L8N9 GenPept UniProtKB/TrEMBL:Q6L8N9
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    Additional Links

    Additional Links

    Gene LinkOut

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

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