InnateDB Protein
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IDBP-55193.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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SGCD
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Protein Name
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sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)
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Synonyms
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35DAG; CMD1L; DAGD; SG-delta; SGCDP; SGD;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000338343
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InnateDB Gene
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IDBG-55191 (SGCD)
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Protein Structure
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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.
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Subcellular Localization |
Cell membrane, sarcolemma; Single-pass type II membrane protein. Cytoplasm, cytoskeleton.
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Disease Associations |
Limb-girdle muscular dystrophy 2F (LGMD2F) [MIM:601287]: An autosomal recessive degenerative myopathy initially affecting the proximal limb girdle musculature. Muscle from patients shows a complete loss of delta-sarcoglycan as well as of the others components of the sarcoglycan complex. {ECO:0000269PubMed:9832045}. Note=The disease is caused by mutations affecting the gene represented in this entry.Cardiomyopathy, dilated 1L (CMD1L) [MIM:606685]: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. {ECO:0000269PubMed:10974018}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
Most strongly expressed in skeletal and cardiac muscle. Also detected in smooth muscle. Weak expression in brain and lung.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.
They are also associated with 7 interaction(s) predicted by orthology.
Experimentally validated |
Total |
4
[view]
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Protein-Protein |
3
[view]
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Protein-DNA |
1
[view]
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
7 [view]
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR006875
Sarcoglycan complex subunit protein
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PFAM |
PF04790
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q92629
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PhosphoSite |
PhosphoSite-Q92629
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
6444
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UniGene |
Hs.708327
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RefSeq |
NP_000328
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HUGO |
HGNC:10807
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OMIM |
601411
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CCDS |
CCDS47325
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HPRD |
03246
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IMGT |
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EMBL |
AK292794
BC020740
BX537948
U58331
X95191
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GenPept |
AAC50921
AAH20740
BAF85483
CAA64490
CAD97916
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