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

Gene ID: 20392, updated on 18-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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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)
  • Targeted (5)  1 citation
  • Gene trapped (1) 
  • 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

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