Sgca sarcoglycan, alpha (dystrophin-associated glycoprotein) [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Sgcaprovided by MGI
Official Full Name: sarcoglycan, alpha (dystrophin-associated glycoprotein)provided by MGI
Primary source: MGI:MGI:894698
See related: Ensembl:ENSMUSG00000001508 AllianceGenome:MGI:894698
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Asg; 50DAG
Summary: This gene encodes a member of the sarcoglycan alpha/epsilon family of transmembrane proteins. The encoded protein is part of the dystrophin-glycoprotein complex which links the extracellular matrix to the cytoskeleton in muscle fibers. Disruption of this gene results in progressive muscular dystrophy and is associated with the development of embryonal rhabdomysarcoma. [provided by RefSeq, Dec 2012]
Expression: Biased expression in heart adult (RPKM 125.0), mammary gland adult (RPKM 27.0) and 2 other tissues See more
Orthologs: human all
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Genomic context

Location:: 11 D; 11 59.01 cM

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	11	NC_000077.7 (94853603..94867153, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	11	NC_000077.6 (94962777..94976327, complement)

Chromosome 11 - NC_000077.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The Danger Signal Extracellular ATP Is Involved in the Immunomediated Damage of alpha-Sarcoglycan-Deficient Muscular Dystrophy.
Title: The Danger Signal Extracellular ATP Is Involved in the Immunomediated Damage of α-Sarcoglycan-Deficient Muscular Dystrophy.
The differential expression of two alpha-SG mRNAs during mouse embryonic development may be a consequence of the differential regulation of both promoters by myogenic and cardiogenic factors.
Title: Expression pattern of mRNA A and mRNA B of alpha sarcoglycan gene during mouse embryonic development and regulation of their expression by myogenic and cardiogenic transcription factors.
Loss of sarcoglycan is associated with loss of miRNA669a and myopathy.
Title: Altered functional differentiation of mesoangioblasts in a genetic myopathy.
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.
Impaired proliferation of Sgca-null myogenic precursors was confirmed by single fiber analysis and this difference correlated with Sgca expression during myogenic progenitor cell proliferation.
Title: Alpha sarcoglycan is required for FGF-dependent myogenic progenitor cell proliferation in vitro and in vivo.
Absence of members of the dystrophin-associated glycoprotein complex constitutes a permissive environment for spontaneous development of embryonal rhabdomyosarcoma associated with mutation of p53 and mutation or altered splicing of Mdm2.
Title: Mice lacking dystrophin or alpha sarcoglycan spontaneously develop embryonal rhabdomyosarcoma with cancer-associated p53 mutations and alternatively spliced or mutant Mdm2 transcripts.
Sox9 and Smad3 are responsible for preventing precocious activation of alpha-SG gene expression during myogenic differentiation.
Title: Sox9 represses alpha-sarcoglycan gene expression in early myogenic differentiation.
Diaphragm from Sgca-null mouse presents a clear dystrophic phenotype, with necrosis, regeneration, fibre hypertrophy and splitting, excess of collagen and fatty infiltration.
Title: Ultrastructure of diaphragm from dystrophic alpha-sarcoglycan-null mice.
identified a negative regulatory element in the alpha-SG distal promoter including two conserved E-boxes (E1 and E2), which interact with MyoD
Title: Identification of two E-boxes that negatively modulate the activity of MyoD on the alpha-sarcoglycan core promoter.
Contrary to expectations, mice homozygous for the H77C-encoding allele expressed both this mutant alpha-sarcoglycan and the other components of the sarcoglycan-sarcospan complex in striated muscle, and did not develop muscular dystrophy.
Title: A common disease-associated missense mutation in alpha-sarcoglycan fails to cause muscular dystrophy in mice.

Submit: New GeneRIF Correction See all GeneRIFs (14)

Variation

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Alleles

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

Endonuclease-mediated (3)
Targeted (6) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables calcium ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within membrane organization	TAS Traceable Author Statement more info	PubMed
involved_in response to denervation involved in regulation of muscle adaptation	IEA Inferred from Electronic Annotation more info
involved_in skeletal muscle tissue regeneration	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cell-cell junction	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in cytoskeleton	IEA Inferred from Electronic Annotation more info
part_of dystroglycan complex	IDA Inferred from Direct Assay more info	PubMed
located_in membrane raft	IDA Inferred from Direct Assay more info	PubMed
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
located_in sarcolemma	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: alpha-sarcoglycan

Names: 50 kDa dystrophin-associated glycoprotein; adhalin; alpha-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.