SGCD_HUMAN » Delta-sarcoglycan

SGCD_HUMAN » Delta-sarcoglycan
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Topology in Plasma membrane
Topologyextracellular side
cytoplasmic side
SGCD_HUMAN » Delta-sarcoglycan » Delta-SG; 35 kDa dystrophin-associated glycoprotein;35DAG;
Hydrophobic Thickness 36.8 ± 2.2 Å
Tilt Angle 0 ± 1°
ΔGtransfer -48.4 kcal/mol
ΔGfold -23.8 kcal/mol
Links UniProtKB, Pfam, Interpro, iHOP, STRING, HGNC
Topology In
TM Segments 26-58 (26-59)
Pathways

Arrhythmogenic right ventricular cardiomyopathy (KEGG)

Dilated cardiomyopathy (KEGG)

Hypertrophic cardiomyopathy (KEGG)

Viral myocarditis (KEGG)

PDB none
OPM none
Complexes none
Interactions

SGCA, Complex: SGCD:SGCA, PubMed

SGCB, Complex: SGCB:SGCD, PubMed

SGCG, Complex: SGCG:SGCD, PubMed

Domains

AA: 23-278, Sarcoglycan complex subunit protein

UniProt annotation for SGCD_HUMAN » Delta-sarcoglycan
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.

SUBUNIT: Interacts with FLNC and DAG1. Cross-link to form 2 major subcomplexes: one consisting of SGCB, SGCD and SGCG and the other consisting of SGCB and SGCD. The association between SGCB and SGCG is particularly strong while SGCA is loosely associated with the other sarcoglycans (By similarity).

TISSUE SPECIFICITY: Most strongly expressed in skeletal and cardiac muscle. Also detected in smooth muscle. Weak expression in brain and lung.

DISEASE: Limb-girdle muscular dystrophy 2F (LGMD2F) OMIM: 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. mutations affecting the gene represented in this entry.

DISEASE: Cardiomyopathy, dilated 1L (CMD1L) OMIM: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. mutations affecting the gene represented in this entry.

UniProt features for SGCD_HUMAN » Delta-sarcoglycan
CHAIN 1 289 Delta-sarcoglycan.
DISULFID 263 288 Potential.
DISULFID 265 281 Potential.
Amino Acid Sequence for SGCD_HUMAN » Delta-sarcoglycan
MPQEQYTHHR STMPGSVGPQ VYKVGIYGWR KRCLYFFVLL LMILILVNLA MTIWILKVMN FTIDGMGNLR ITEKGLKLEG DSEFLQPLYA KEIQSRPGNA LYFKSARNVT VNILNDQTKV LTQLITGPKA VEAYGKKFEV KTVSGKLLFS ADNNEVVVGA ERLRVLGAEG TVFPKSIETP NVRADPFKEL RLESPTRSLV MEAPKGVEIN AEAGNMEATC RTELRLESKD GEIKLDAAKI RLPRLPHGSY TPTGTRQKVF EICVCANGRL FLSQAGAGST CQINTSVCL