Description: Homo sapiens sarcoglycan, epsilon (SGCE), transcript variant 2, mRNA. RefSeq Summary (NM_003919): This gene encodes the epsilon member of the sarcoglycan family. Sarcoglycans are transmembrane proteins that are components of the dystrophin-glycoprotein complex, which link the actin cytoskeleton to the extracellular matrix. Unlike other family members which are predominantly expressed in striated muscle, the epsilon sarcoglycan is more broadly expressed. Mutations in this gene are associated with myoclonus-dystonia syndrome. This gene is imprinted, with preferential expression from the paternal allele. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. A pseudogene associated with this gene is located on chromosome 2. [provided by RefSeq, Oct 2016]. Transcript (Including UTRs) Position: hg19 chr7:94,214,536-94,285,521 Size: 70,986 Total Exon Count: 11 Strand: - Coding Region Position: hg19 chr7:94,214,811-94,285,410 Size: 70,600 Coding Exon Count: 11
ID:SGCE_HUMAN DESCRIPTION: RecName: Full=Epsilon-sarcoglycan; Short=Epsilon-SG; FUNCTION: Component of the sarcoglycan complex, a subcomplex of the dystrophin-glycoprotein complex which forms a link between the F-actin cytoskeleton and the extracellular matrix. SUBCELLULAR LOCATION: Cell membrane, sarcolemma; Single-pass membrane protein (Potential). Cytoplasm, cytoskeleton (By similarity). TISSUE SPECIFICITY: Ubiquitous. DISEASE: Defects in SGCE are a cause of dystonia type 11 (DYT11) [MIM:159900]; also known as myoclonic dystonia or alcohol- responsive dystonia. DYT11 is a myoclonic dystonia. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. DYT11 is characterized by involuntary lightning jerks and dystonic movements and postures alleviated by alcohol. Inheritance is autosomal dominant. The age of onset, pattern of body involvement, presence of myoclonus and response to alcohol are all variable. SIMILARITY: Belongs to the sarcoglycan alpha/epsilon family. SEQUENCE CAUTION: Sequence=AAC04368.1; Type=Erroneous initiation; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SGCE";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on O43556
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.