SGCA_HUMAN » Alpha-sarcoglycan

SGCA_HUMAN » Alpha-sarcoglycan
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Topology in Plasma membrane
Topologyextracellular side
cytoplasmic side
SGCA_HUMAN » Alpha-sarcoglycan » Alpha-SG; 50 kDa dystrophin-associated glycoprotein;50DAG; Adhalin;Dystroglycan-2;
Hydrophobic Thickness 39.6 ± 2.4 Å
Tilt Angle 0 ± 0°
ΔGtransfer -59.2 kcal/mol
ΔGfold -24.0 kcal/mol
Links UniProtKB, Pfam, Interpro, iHOP, STRING, HGNC
Topology Out
TM Segments 286-312 (284-317)
Pathways

Arrhythmogenic right ventricular cardiomyopathy (KEGG)

Dilated cardiomyopathy (KEGG)

Hypertrophic cardiomyopathy (KEGG)

Viral myocarditis (KEGG)

PDB none
OPM none
Complexes none
Interactions

DAG1, Complex: SGCA:DAG1, PubMed

SGCB, Complex: SGCB:SGCG:SGCD:SGCA:DTNA:SSPN, PubMed

SGCD, Complex: SGCD:SGCA, PubMed

Domains

AA: 7-382, Sarcoglycan alpha/epsilon

UniProt annotation for SGCA_HUMAN » Alpha-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 the syntrophin SNTA1. 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 muscle. Also expressed in cardiac muscle and, at much lower levels, in lung. In the fetus, most abundant in cardiac muscle and, at lower levels, in lung. Also detected in liver and kidney. Not expressed in brain.

DISEASE: Limb-girdle muscular dystrophy 2D (LGMD2D) OMIM: An autosomal recessive degenerative myopathy characterized by progressive muscle wasting from early childhood with loss of independent ambulation by teenage years. Muscle biopsy shows necrosis, decreased immunostaining for alpha sarcoglycan, and adhalin deficiency. disease is caused by mutations affecting the gene represented in this entry.

UniProt features for SGCA_HUMAN » Alpha-sarcoglycan
SIGNAL 1 23 Potential.
CHAIN 24 387 Alpha-sarcoglycan.
Amino Acid Sequence for SGCA_HUMAN » Alpha-sarcoglycan
MAETLFWTPL LVVLLAGLGD TEAQQTTLHP LVGRVFVHTL DHETFLSLPE HVAVPPAVHI TYHAHLQGHP DLPRWLRYTQ RSPHHPGFLY GSATPEDRGL QVIEVTAYNR DSFDTTRQRL VLEIGDPEGP LLPYQAEFLV RSHDAEEVLP STPASRFLSA LGGLWEPGEL QLLNVTSALD RGGRVPLPIE GRKEGVYIKV GSASPFSTCL KMVASPDSHA RCAQGQPPLL SCYDTLAPHF RVDWCNVTLV DKSVPEPADE VPTPGDGILE HDPFFCPPTE APDRDFLVDA LVTLLVPLLV ALLLTLLLAY VMCCRREGRL KRDLATSDIQ MVHHCTIHGN TEELRQMAAS REVPRPLSTL PMFNVHTGER LPPRVDSAQV PLILDQH