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delta-sarcoglycan; delta-SG; 35 kD dystrophin-associated glycoprotein; 35DAG (SGCD)
Function:
- component of the sarcoglycan complex, a subcomplex of the dystrophin-glycoprotein complex which forms a link between the F-actin cytoskeleton & the extracellular matrix
- disulfide bonds are present (putative)
- interacts with FLNC & DAG1
- cross-link to form 2 major subcomplexes:
a) one consisting of SGCB, SGCD & SGCG
b) the other consisting of SGCB & SGCD
- association between SGCB & SGCG is particularly strong
- SGCA is loosely associated with the other sarcoglycans (putative)
Structure:
- glycosylated
- belongs to the sarcoglycan beta/delta/gamma/zeta family
Compartment:
- cell membrane, sarcolemma
- single-pass type 2 membrane protein
- cytoplasm, cytoskeleton
Expression:
- most strongly expressed in skeletal & cardiac muscle.
- also detected in smooth muscle
- weak expression in brain & lung
Pathology:
- defects in SGCD are the cause of
a) limb-girdle muscular dystrophy type 2F
b) dilated cardiomyopathy type 1L
General
phosphoprotein
sarcoglycan
Properties
SIZE: entity length = 289 aa
MW = 32 kD
COMPARTMENT: cytoplasm
MOTIF: transmembrane domain {36-56}
N-glycosylation site {N60}
N-glycosylation site {N108}
Ser phosphorylation site {S194}
Thr phosphorylation site {T196}
cysteine residue {C263}
MODIFICATION: cysteine residue {C288}
cysteine residue {C265}
MODIFICATION: cysteine residue {C281}
cysteine residue {C281}
MODIFICATION: cysteine residue {C265}
N-glycosylation site {N284}
cysteine residue {C288}
MODIFICATION: cysteine residue {C263}
Database Correlations
OMIM correlations
MORBIDMAP 601411
UniProt Q92629
Pfam PF04790
Entrez Gene 6444
Kegg hsa:6444
References
- UniProt :accession Q92629
- Leiden muscular Dystrophy pages; SGCD mutations in LGMD2F
http://www.dmd.nl/sgcd_home.html
- GeneReviews
http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/SGCD
Component-of
sarcoglycan complex