SGCE_HUMAN » Epsilon-sarcoglycan

SGCE_HUMAN » Epsilon-sarcoglycan
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Topology in Plasma membrane
Topologyextracellular side
cytoplasmic side
SGCE_HUMAN » Epsilon-sarcoglycan » Epsilon-SG;
Hydrophobic Thickness 35.6 ± 3.4 Å
Tilt Angle 0 ± 0°
ΔGtransfer -49.2 kcal/mol
ΔGfold -22.3 kcal/mol
Links UniProtKB, Pfam, Interpro, iHOP, STRING, HGNC
Topology Out
TM Segments 314-340 (311-344)
Pathways none
PDB none
OPM none
Complexes none
Interactions

DAG1, Complex: UTRO:SGCE:DAG1:CAV1:NOS3

Domains

AA: 32-419, Sarcoglycan alpha/epsilon

UniProt annotation for SGCE_HUMAN » Epsilon-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.

TISSUE SPECIFICITY: Ubiquitous.

DISEASE: Dystonia 11 (DYT11) OMIM: 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. mutations affecting the gene represented in this entry.

UniProt features for SGCE_HUMAN » Epsilon-sarcoglycan
CHAIN 1 437 Epsilon-sarcoglycan.
Amino Acid Sequence for SGCE_HUMAN » Epsilon-sarcoglycan
MQLPRWWELG DPCAWTGQGR GTRRMSPATT GTFLLTVYSI FSKVHSDRNV YPSAGVLFVH VLEREYFKGE FPPYPKPGEI SNDPITFNTN LMGYPDRPGW LRYIQRTPYS DGVLYGSPTA ENVGKPTIIE ITAYNRRTFE TARHNLIINI MSAEDFPLPY QAEFFIKNMN VEEMLASEVL GDFLGAVKNV WQPERLNAIN ITSALDRGGR VPLPINDLKE GVYVMVGADV PFSSCLREVE NPQNQLRCSQ EMEPVITCDK KFRTQFYIDW CKISLVDKTK QVSTYQEVIR GEGILPDGGE YKPPSDSLKS RDYYTDFLIT LAVPSAVALV LFLILAYIMC CRREGVEKRN MQTPDIQLVH HSAIQKSTKE LRDMSKNREI AWPLSTLPVF HPVTGEIIPP LHTDNYDSTN MPLMQTQQNL PHQTQIPQQQ TTGKWYP