O43556

PTMD Annotation Information

※ Protein Information

Tag	Content
UniProt Accession	SGCE_HUMAN; O43556;
Entrez ID	8910
GenBank Protein ID	NM_001099400.1; NM_001099401.1; NM_001301139.1; NM_003919.2;
GenBank Nucleotide ID	NP_001092870.1; NP_001092871.1; NP_001288068.1; NP_003910.1;
Protein Name	Epsilon-sarcoglycan (Epsilon-SG)
Gene Name	SGCE; ESG; UNQ433/PRO840
Organism	Homo sapiens
NCBI Taxa ID	9606
Functional Description	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. Functional Description 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.
Sequence (Fasta)	MQLPRWWELG DPCAWTGQGR GTRRMSPATT GTFLLTVYSI FSKVHSDRNV YPSAGVLFVH 60 VLEREYFKGE FPPYPKPGEI SNDPITFNTN LMGYPDRPGW LRYIQRTPYS DGVLYGSPTA 120 ENVGKPTIIE ITAYNRRTFE TARHNLIINI MSAEDFPLPY QAEFFIKNMN VEEMLASEVL 180 GDFLGAVKNV WQPERLNAIN ITSALDRGGR VPLPINDLKE GVYVMVGADV PFSSCLREVE 240 NPQNQLRCSQ EMEPVITCDK KFRTQFYIDW CKISLVDKTK QVSTYQEVIR GEGILPDGGE 300 YKPPSDSLKS RDYYTDFLIT LAVPSAVALV LFLILAYIMC CRREGVEKRN MQTPDIQLVH 360 HSAIQKSTKE LRDMSKNREI AWPLSTLPVF HPVTGEIIPP LHTDNYDSTN MPLMQTQQNL 420 PHQTQIPQQQ TTGKWYP 438 Fasta Sequence >O43556\|SGCE; ESG; UNQ433/PRO840\|Homo sapiens (Human) MQLPRWWELGDPCAWTGQGRGTRRMSPATTGTFLLTVYSIFSKVHSDRNVYPSAGVLFVHVLEREYFKGEFPPYPKPGEISNDPITFNTNLMGYPDRPGWLRYIQRTPYSDGVLYGSPTAENVGKPTIIEITAYNRRTFETARHNLIINIMSAEDFPLPYQAEFFIKNMNVEEMLASEVLGDFLGAVKNVWQPERLNAINITSALDRGGRVPLPINDLKEGVYVMVGADVPFSSCLREVENPQNQLRCSQEMEPVITCDKKFRTQFYIDWCKISLVDKTKQVSTYQEVIRGEGILPDGGEYKPPSDSLKSRDYYTDFLITLAVPSAVALVLFLILAYIMCCRREGVEKRNMQTPDIQLVHHSAIQKSTKELRDMSKNREIAWPLSTLPVFHPVTGEIIPPLHTDNYDSTNMPLMQTQQNLPHQTQIPQQQTTGKWYP

※ PTM-Disease Association

Num	PTM	Disease	Cell Type	Type	PTM Site	PMID
1	Glycosylation	Myoclonus-dystonia syndrome		C		21796726
1	[Reference]: In this study, we show that while the majority of MDS-associated missense mutants modeled with a murine -sarcoglycan cDNA are substrates for endoplasmic reticulum-associated degradation, one mutant, M68T (analogous to human c.275T>C, p.M92T), located in the Ig-like domain of -sarcoglycan, results in a gain-of-glycosylation mutation producing a protein that is targeted to the plasma membrane, albeit at reduced levels compared to wild-type -sarcoglycan.

※ Disease Cross-ref Annotation

Database	Annotation
CTD (Curated) (count: 1)	MESH:C536096 ; Myoclonic dystonia
HGMD (count: 74) (view all)	CD022290; Myoclonus dystonia; Small deletions CD031542; Myoclonus dystonia; Small deletions CD062229; Myoclonus dystonia; Small deletions CD092143; Myoclonus dystonia; Small deletions CD022291; Myoclonus dystonia; Small deletions CD041176; Myoclonus dystonia; Small deletions CD093249; Myoclonus dystonia; Small deletions CD080900; Myoclonus dystonia; Small deletions CD082194; Myoclonus dystonia; Small deletions CD012858; Myoclonus dystonia; Small deletions CD057812; Myoclonus dystonia; Small deletions CD032135; Myoclonus dystonia; Small deletions CD093251; Myoclonus dystonia; Small deletions CD061470; Myoclonus dystonia; Small deletions CD022745; Myoclonus dystonia; Small deletions CD093250; Myoclonus dystonia; Small deletions CD023276; Myoclonus dystonia; Small deletions CD077434; Myoclonus dystonia; Small deletions CD062230; Myoclonus dystonia; Small deletions CG081080; Myoclonus dystonia; Gross deletions CG081081; Myoclonus dystonia; Gross deletions CG082401; Myoclonus dystonia; Gross deletions CG054534; Myoclonus dystonia; Gross deletions CG082402; Myoclonus dystonia; Gross deletions CG054535; Myoclonus dystonia; Gross deletions CG015650; Myoclonus dystonia; Gross deletions CG081082; Myoclonus dystonia; Gross deletions CG091065; Myoclonus dystonia; Gross deletions CG091066; Myoclonus dystonia; Gross deletions CG093252; Myoclonus dystonia; Gross deletions CG075855; Myoclonus dystonia; Gross deletions CG075856; Myoclonus dystonia; Gross deletions CG075857; Myoclonus dystonia; Gross deletions CX093255; Myoclonus dystonia; Small indels CI061545; Myoclonus dystonia; Small insertions CI084331; Myoclonus dystonia; Small insertions CI023306; Myoclonus dystonia; Small insertions CI062288; Myoclonus dystonia; Small insertions CM081435; Myoclonus dystonia; Missense/nonsense CM041073; Myoclonus dystonia; Missense/nonsense CM045437; Myoclonus dystonia; Missense/nonsense CM061976; Myoclonus dystonia; Missense/nonsense CM061975; Myoclonus dystonia; Missense/nonsense CM012802; Myoclonus dystonia; Missense/nonsense CM061979; Myoclonus dystonia; Missense/nonsense CM012803; Myoclonus dystonia; Missense/nonsense CM081782; Myoclonus dystonia; Missense/nonsense CM061977; Myoclonus dystonia; Missense/nonsense CM081781; Myoclonus dystonia; Missense/nonsense CM073346; Myoclonus dystonia; Missense/nonsense CM081436; Myoclonus dystonia; Missense/nonsense CM022670; Myoclonus dystonia; Missense/nonsense CM077633; Myoclonus dystonia; Missense/nonsense CM080536; Myoclonus dystonia; Missense/nonsense CM061194; Myoclonus dystonia; Missense/nonsense CM081783; Myoclonus dystonia; Missense/nonsense CM061978; Myoclonus dystonia; Missense/nonsense CM022245; Myoclonus dystonia; Missense/nonsense CM056402; Myoclonus dystonia; Missense/nonsense CS077379; Myoclonus dystonia; Splicing CS073528; Myoclonus dystonia; Splicing CS022272; Myoclonus dystonia; Splicing CS062101; Myoclonus dystonia; Splicing CS062102; Myoclonus dystonia; Splicing CS081991; Myoclonus dystonia; Splicing CS062103; Myoclonus dystonia; Splicing CS056436; Myoclonus dystonia; Splicing CS022273; Myoclonus dystonia; Splicing CS081992; Myoclonus dystonia; Splicing CS073529; Myoclonus dystonia; Splicing CS081993; Myoclonus dystonia; Splicing CS012834; Myoclonus dystonia; Splicing CS061323; Myoclonus dystonia; Splicing CS022274; Myoclonus dystonia; Splicing
GWASdb (count: 1)	rs10232398; Myopia (pathological); myopia

※ PTM Sites

PTM	Modification Sites
Phosphorylation (count: 10) (view all)	249 PQNQLRCSQEMEPVI dbPAF 257 QEMEPVITCDKKFRT dbPAF 32 MSPATTGTFLLTVYS dbPAF 337 VLFLILAYIMCCRRE dbPAF 353 VEKRNMQTPDIQLVH dbPAF 36 TTGTFLLTVYSIFSK dbPAF 38 GTFLLTVYSIFSKVH dbPAF 39 TFLLTVYSIFSKVHS dbPAF 406 PPLHTDNYDSTNMPL dbPAF 46 SIFSKVHSDRNVYPS dbPAF
Ubiquitination (count: 6)	125 PTAENVGKPTIIEIT PLMD 219 PLPINDLKEGVYVMV PLMD 260 EPVITCDKKFRTQFY PLMD 280 ISLVDKTKQVSTYQE PLMD 302 LPDGGEYKPPSDSLK PLMD 366 VHHSAIQKSTKELRD PLMD

※ Protein-Protein Interaction

Network

Interaction

A

B

Source

O43556	O95376	IntAct; MINT
O43556	Q9P013	IntAct