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    Sgce sarcoglycan, epsilon [ Mus musculus (house mouse) ]

    Gene ID: 20392, updated on 3-Apr-2024

    Summary

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    Official Symbol
    Sgceprovided by MGI
    Official Full Name
    sarcoglycan, epsilonprovided by MGI
    Primary source
    MGI:MGI:1329042
    See related
    Ensembl:ENSMUSG00000004631 AllianceGenome:MGI:1329042
    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
    e-SG
    Summary
    Located in Golgi apparatus and dendrite membrane. Is expressed in several structures, including allantois; heart; liver; lung; and placenta. Used to study myoclonic dystonia 11. Human ortholog(s) of this gene implicated in myoclonic dystonia. Orthologous to human SGCE (sarcoglycan epsilon). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in placenta adult (RPKM 22.2), bladder adult (RPKM 18.3) and 23 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Sgce in Genome Data Viewer
    Location:
    6 A1; 6 1.81 cM
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 6 NC_000072.7 (4674350..4747180, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 6 NC_000072.6 (4674350..4747204, complement)

    Chromosome 6 - NC_000072.7Genomic Context describing neighboring genes Neighboring gene CAS1 domain containing 1 Neighboring gene predicted gene, 38761 Neighboring gene STARR-seq mESC enhancer starr_15017 Neighboring gene STARR-seq mESC enhancer starr_15018 Neighboring gene STARR-seq mESC enhancer starr_15019 Neighboring gene paternally expressed 10 Neighboring gene predicted gene, 51408

    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. Abnormal striatal plasticity in a DYT11/SGCE myoclonus dystonia mouse model is reversed by adenosine A2A receptor inhibition. Maltese M, et al. Neurobiol Dis, 2017 Dec. PMID 28823931
    2. Role of major and brain-specific Sgce isoforms in the pathogenesis of myoclonus-dystonia syndrome. Xiao J, et al. Neurobiol Dis, 2017 Feb. PMID 27890709, Free PMC Article
    3. A gain-of-glycosylation mutation associated with myoclonus-dystonia syndrome affects trafficking and processing of mouse ε-sarcoglycan in the late secretory pathway. Waite A, et al. Hum Mutat, 2011 Nov. PMID 21796726
    4. Myoclonus, motor deficits, alterations in emotional responses and monoamine metabolism in epsilon-sarcoglycan deficient mice. Yokoi F, et al. J Biochem, 2006 Jul. PMID 16815860
    5. Epsilon-sarcoglycan immunoreactivity and mRNA expression in mouse brain. Chan P, et al. J Comp Neurol, 2005 Jan 31. PMID 15612018

    See all (44) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Sgcem+/pGt mice show germline absence of major and brain-specific isoforms harboring exons 3' to intron 9. Sgce was maternally-imprinted in our mouse model. Sgcem+/pGt mice exhibited tiptoe walking and occasional stimulus-induced appendicular flexion posturing preweanling. Adult Sgcem+/pGt mice showed increased slips on a raised-beam task, anxiety-like behavioral abnormalities, and narrowed hindlimb stance widths.
      Title: Role of major and brain-specific Sgce isoforms in the pathogenesis of myoclonus-dystonia syndrome.
    2. 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 coordination deficits.
      Title: Abnormal nuclear envelope in the cerebellar Purkinje cells and impaired motor learning in DYT11 myoclonus-dystonia mouse models.
    3. results suggest that the loss of epsilon-sarcoglycan in the striatum contributes to motor deficits, while it alone does not produce abnormal nuclear envelopes or myoclonus
      Title: Abnormal nuclear envelopes in the striatum and motor deficits in DYT11 myoclonus-dystonia mouse models.
    4. impaired ectodomain shedding of M68T, a process that occurs physiologically for epsilon-sarcoglycan resulting in the lysosomal trafficking of the intracellular C-terminal domain of the protein. ( epsilon-sarcoglycan )
      Title: A gain-of-glycosylation mutation associated with myoclonus-dystonia syndrome affects trafficking and processing of mouse ε-sarcoglycan in the late secretory pathway.
    5. 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.
    6. 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.
    7. 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.
    8. 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.
    9. 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.
    10. 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.
    Submit: New GeneRIF Correction See all GeneRIFs (11)

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Gene trapped (1) 
    • Targeted (5)  1 citation
    • Endonuclease-mediated (5) 

    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 binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cell projection IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in dendrite membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of dystrophin-associated glycoprotein complex ISO
    Inferred from Sequence Orthology
    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 plasma membrane TAS
    Traceable Author Statement
    more info
    		 PubMed 
    part_of sarcoglycan complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of sarcoglycan complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    epsilon-sarcoglycan
    Names
    epsilon-SG

    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_001130188.2 → NP_001123660.1  epsilon-sarcoglycan isoform 1

      See identical proteins and their annotated locations for NP_001123660.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AC084315, AC091395
      Consensus CDS
      CCDS51718.1
      UniProtKB/TrEMBL
      Q3V1W5
      Related
      ENSMUSP00000111240.3, ENSMUST00000115577.9
      Conserved Domains (1) summary
      pfam05510
      Location:73 → 455
      Sarcoglycan_2; Sarcoglycan alpha/epsilon

    2. NM_001130189.2 → 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)
      AC084315, AC091395
      Consensus CDS
      CCDS85013.1
      UniProtKB/TrEMBL
      F8WGM3, Q6L8N9
      Related
      ENSMUSP00000004750.10, ENSMUST00000004750.15
      Conserved Domains (1) summary
      pfam05510
      Location:34 → 410
      Sarcoglycan_2; Sarcoglycan alpha/epsilon

    3. NM_001130190.2 → 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)
      AC084315, AC091395
      Consensus CDS
      CCDS51717.1
      UniProtKB/TrEMBL
      F6R6P2, Q4H438
      Related
      ENSMUSP00000121964.3, ENSMUST00000133306.8
      Conserved Domains (1) summary
      pfam05510
      Location:34 → 419
      Sarcoglycan_2; Sarcoglycan alpha/epsilon

    4. NM_001130191.2 → 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)
      AC084315, AC091395
      Consensus CDS
      CCDS51715.1
      UniProtKB/TrEMBL
      E9PX46, Q4H437
      Related
      ENSMUSP00000099200.5, ENSMUST00000101677.9
      Conserved Domains (1) summary
      pfam05510
      Location:34 → 410
      Sarcoglycan_2; Sarcoglycan alpha/epsilon

    5. NM_001410332.1 → NP_001397261.1  epsilon-sarcoglycan isoform 6

      Status: VALIDATED

      Source sequence(s)
      AC084315, AC091395

    6. NM_001410333.1 → NP_001397262.1  epsilon-sarcoglycan isoform 7

      Status: VALIDATED

      Source sequence(s)
      AC084315, AC091395

    7. NM_001410334.1 → NP_001397263.1  epsilon-sarcoglycan isoform 8

      Status: VALIDATED

      Source sequence(s)
      AC084315, AC091395
      UniProtKB/TrEMBL
      D3Z572
      Related
      ENSMUSP00000088185.5, ENSMUST00000090686.11

    8. NM_001410335.1 → NP_001397264.1  epsilon-sarcoglycan isoform 9

      Status: VALIDATED

      Source sequence(s)
      AC084315, AC091395
      UniProtKB/TrEMBL
      F6WKE4
      Related
      ENSMUSP00000120718.3, ENSMUST00000126151.8

    9. NM_001410336.1 → NP_001397265.1  epsilon-sarcoglycan isoform 10

      Status: VALIDATED

      Source sequence(s)
      AC084315, AC091395

    10. NM_001410337.1 → NP_001397266.1  epsilon-sarcoglycan isoform 11

      Status: VALIDATED

      Source sequence(s)
      AC084315, AC091395

    11. NM_001410338.1 → NP_001397267.1  epsilon-sarcoglycan isoform 12

      Status: VALIDATED

      Source sequence(s)
      AC084315, AC091395

    12. NM_001410339.1 → NP_001397268.1  epsilon-sarcoglycan isoform 13

      Status: VALIDATED

      Source sequence(s)
      AC084315, AC091395

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

      See identical proteins and their annotated locations for NP_035490.3

      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)
      AC084315, AC091395
      Consensus CDS
      CCDS51716.1
      UniProtKB/Swiss-Prot
      O70258, Q921G2
      UniProtKB/TrEMBL
      Q3V1W5
      Related
      ENSMUSP00000111242.2, ENSMUST00000115579.8
      Conserved Domains (1) summary
      pfam05510
      Location:34 → 419
      Sarcoglycan_2; Sarcoglycan alpha/epsilon

    RNA

    1. NR_177058.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC084315, AC091395

    2. NR_177059.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC084315, AC091395

    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
      4674350..4747180 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006505020.5 → XP_006505083.1  epsilon-sarcoglycan isoform X2

      UniProtKB/TrEMBL
      Q6L8N9
      Conserved Domains (1) summary
      pfam05510
      Location:79 → 446
      Sarcoglycan_2; Sarcoglycan alpha/epsilon

    2. XM_030255278.2 → XP_030111138.1  epsilon-sarcoglycan isoform X4

      UniProtKB/TrEMBL
      Q4H437
      Conserved Domains (1) summary
      pfam05510
      Location:79 → 446
      Sarcoglycan_2; Sarcoglycan alpha/epsilon

    3. XM_006505019.5 → XP_006505082.1  epsilon-sarcoglycan isoform X1

      UniProtKB/TrEMBL
      Q6L8N9
      Conserved Domains (1) summary
      pfam05510
      Location:79 → 455
      Sarcoglycan_2; Sarcoglycan alpha/epsilon

    4. XM_030255277.2 → XP_030111137.1  epsilon-sarcoglycan isoform X3

      UniProtKB/TrEMBL
      Q4H438
      Conserved Domains (1) summary
      pfam05510
      Location:79 → 455
      Sarcoglycan_2; Sarcoglycan alpha/epsilon

    5. XM_036165975.1 → XP_036021868.1  epsilon-sarcoglycan isoform X9

      UniProtKB/TrEMBL
      Q6L8N9
      Conserved Domains (1) summary
      pfam05510
      Location:33 → 369
      Sarcoglycan_2; Sarcoglycan alpha/epsilon

    6. XM_036165974.1 → XP_036021867.1  epsilon-sarcoglycan isoform X8

      UniProtKB/TrEMBL
      Q6L8N9
      Conserved Domains (1) summary
      pfam05510
      Location:33 → 378
      Sarcoglycan_2; Sarcoglycan alpha/epsilon

    7. XM_006505024.4 → XP_006505087.1  epsilon-sarcoglycan isoform X12

      UniProtKB/TrEMBL
      Q6L8N9
      Conserved Domains (1) summary
      pfam05510
      Location:1 → 328
      Sarcoglycan_2; Sarcoglycan alpha/epsilon
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O70258.2 GenPept UniProtKB/Swiss-Prot:O70258

    Gene LinkOut

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

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