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Protein

Epsilon-sarcoglycan

Gene

SGCE

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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.

GO - Biological processi

  • cell-matrix adhesion Source: ProtInc
  • membrane organization Source: GO_Central
  • muscle organ development Source: ProtInc
  • muscle system process Source: GO_Central

Names & Taxonomyi

Protein namesi
Recommended name:
Epsilon-sarcoglycan
Short name:
Epsilon-SG
Gene namesi
Name:SGCE
Synonyms:ESG
ORF Names:UNQ433/PRO840
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 7

Organism-specific databases

EuPathDBiHostDB:ENSG00000127990.15
HGNCiHGNC:10808 SGCE
MIMi604149 gene
neXtProtiNX_O43556

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 317ExtracellularSequence analysisAdd BLAST317
Transmembranei318 – 338HelicalSequence analysisAdd BLAST21
Topological domaini339 – 437CytoplasmicSequence analysisAdd BLAST99

Keywords - Cellular componenti

Cell membrane, Cell projection, Cytoplasm, Cytoskeleton, Golgi apparatus, Membrane

Pathology & Biotechi

Involvement in diseasei

Dystonia 11, myoclonic (DYT11)10 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:159900
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06673236T → R in DYT11. 1 Publication1
Natural variantiVAR_06673360H → P in DYT11; affects protein stability; the mutant undergoes endoplasmic reticulum-associated degradation. 2 Publications1
Natural variantiVAR_06673460H → R in DYT11; affects protein stability; the mutant undergoes endoplasmic reticulum-associated degradation. 2 Publications1
Natural variantiVAR_06673592M → T in DYT11; results in gain-of-glycosylation; the mutant is targeted to the plasma membrane at reduced levels compared to wild-type. 2 Publications1
Natural variantiVAR_066736100W → G in DYT11. 1 Publication1
Natural variantiVAR_066737112G → R in DYT11. 1 Publication1
Natural variantiVAR_066738115Y → C in DYT11; affects protein stability; the mutant undergoes endoplasmic reticulum-associated degradation. 3 Publications1
Natural variantiVAR_066739175L → S in DYT11. 1 Publication1
Natural variantiVAR_066740177S → C in DYT11. 1 Publication1
Natural variantiVAR_066741184L → P in DYT11; affects protein stability; the mutant undergoes endoplasmic reticulum-associated degradation. 1 PublicationCorresponds to variant dbSNP:rs1064794321Ensembl.1
Natural variantiVAR_026750196L → R in DYT11. 1 PublicationCorresponds to variant dbSNP:rs121908491EnsemblClinVar.1
Natural variantiVAR_066742270W → R in DYT11; affects protein stability; the mutant undergoes endoplasmic reticulum-associated degradation. 2 Publications1
Natural variantiVAR_066743271C → Y in DYT11; affects protein stability; the mutant undergoes endoplasmic reticulum-associated degradation. 2 PublicationsCorresponds to variant dbSNP:rs372686312Ensembl.1

Keywords - Diseasei

Disease mutation, Dystonia

Organism-specific databases

DisGeNETi8910
GeneReviewsiSGCE
MalaCardsiSGCE
MIMi159900 phenotype
OpenTargetsiENSG00000127990
Orphaneti36899 Myoclonus-dystonia syndrome
PharmGKBiPA35719

Polymorphism and mutation databases

BioMutaiSGCE

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000316771 – 437Epsilon-sarcoglycanAdd BLAST437

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi200N-linked (GlcNAc...) asparagine1 Publication1

Post-translational modificationi

N-glycosylated.By similarity
Ubiquitinated, leading to its degradation by the proteasome.By similarity

Keywords - PTMi

Glycoprotein, Ubl conjugation

Proteomic databases

EPDiO43556
MaxQBiO43556
PeptideAtlasiO43556
PRIDEiO43556
ProteomicsDBi49048

PTM databases

iPTMnetiO43556
PhosphoSitePlusiO43556
SwissPalmiO43556

Expressioni

Tissue specificityi

Ubiquitous.

Gene expression databases

BgeeiENSG00000127990
CleanExiHS_SGCE
ExpressionAtlasiO43556 baseline and differential
GenevisibleiO43556 HS

Organism-specific databases

HPAiHPA074790

Interactioni

Protein-protein interaction databases

BioGridi114424, 7 interactors
CORUMiO43556
IntActiO43556, 3 interactors

Structurei

3D structure databases

ProteinModelPortaliO43556
SMRiO43556
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi235 – 341Cys-richAdd BLAST107

Sequence similaritiesi

Belongs to the sarcoglycan alpha/epsilon family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

GeneTreeiENSGT00390000005672
HOGENOMiHOG000074154
HOVERGENiHBG006891
InParanoidiO43556
PhylomeDBiO43556
TreeFamiTF314655

Family and domain databases

InterProiView protein in InterPro
IPR006644 Cadg
IPR008908 Sarcoglycan_alpha/epsilon
IPR030775 SGCE
PANTHERiPTHR10132 PTHR10132, 1 hit
PTHR10132:SF17 PTHR10132:SF17, 1 hit
PfamiView protein in Pfam
PF05510 Sarcoglycan_2, 1 hit
SMARTiView protein in SMART
SM00736 CADG, 1 hit

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: O43556-1) [UniParc]FASTAAdd to basket
Also known as: epsilon-SG1

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MQLPRWWELG DPCAWTGQGR GTRRMSPATT GTFLLTVYSI FSKVHSDRNV
60 70 80 90 100
YPSAGVLFVH VLEREYFKGE FPPYPKPGEI SNDPITFNTN LMGYPDRPGW
110 120 130 140 150
LRYIQRTPYS DGVLYGSPTA ENVGKPTIIE ITAYNRRTFE TARHNLIINI
160 170 180 190 200
MSAEDFPLPY QAEFFIKNMN VEEMLASEVL GDFLGAVKNV WQPERLNAIN
210 220 230 240 250
ITSALDRGGR VPLPINDLKE GVYVMVGADV PFSSCLREVE NPQNQLRCSQ
260 270 280 290 300
EMEPVITCDK KFRTQFYIDW CKISLVDKTK QVSTYQEVIR GEGILPDGGE
310 320 330 340 350
YKPPSDSLKS RDYYTDFLIT LAVPSAVALV LFLILAYIMC CRREGVEKRN
360 370 380 390 400
MQTPDIQLVH HSAIQKSTKE LRDMSKNREI AWPLSTLPVF HPVTGEIIPP
410 420 430
LHTDNYDSTN MPLMQTQQNL PHQTQIPQQQ TTGKWYP
Length:437
Mass (Da):49,851
Last modified:July 7, 2009 - v6
Checksum:i0996CB18272DED44
GO
Isoform 2 (identifier: O43556-3) [UniParc]FASTAAdd to basket
Also known as: epsilon-SG2

The sequence of this isoform differs from the canonical sequence as follows:
     347-355: Missing.
     434-437: KWYP → DFRLTTFQRFEVNGIPEERKLTEAMNL

Note: Brain-specific.
Show »
Length:451
Mass (Da):51,414
Checksum:i4EA54BF24BB23BDD
GO
Isoform 3 (identifier: O43556-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     418-418: Q → QWSFAPVAQAGVQWSDLGSLQPPPPR

Show »
Length:462
Mass (Da):52,525
Checksum:i604D3342A0F8FD7F
GO

Sequence cautioni

The sequence AAC04368 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAD21206 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti78G → S in AAM64204 (Ref. 3) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06673236T → R in DYT11. 1 Publication1
Natural variantiVAR_05808849N → S1 PublicationCorresponds to variant dbSNP:rs11548284Ensembl.1
Natural variantiVAR_06673360H → P in DYT11; affects protein stability; the mutant undergoes endoplasmic reticulum-associated degradation. 2 Publications1
Natural variantiVAR_06673460H → R in DYT11; affects protein stability; the mutant undergoes endoplasmic reticulum-associated degradation. 2 Publications1
Natural variantiVAR_06673592M → T in DYT11; results in gain-of-glycosylation; the mutant is targeted to the plasma membrane at reduced levels compared to wild-type. 2 Publications1
Natural variantiVAR_066736100W → G in DYT11. 1 Publication1
Natural variantiVAR_066737112G → R in DYT11. 1 Publication1
Natural variantiVAR_066738115Y → C in DYT11; affects protein stability; the mutant undergoes endoplasmic reticulum-associated degradation. 3 Publications1
Natural variantiVAR_066739175L → S in DYT11. 1 Publication1
Natural variantiVAR_066740177S → C in DYT11. 1 Publication1
Natural variantiVAR_066741184L → P in DYT11; affects protein stability; the mutant undergoes endoplasmic reticulum-associated degradation. 1 PublicationCorresponds to variant dbSNP:rs1064794321Ensembl.1
Natural variantiVAR_026750196L → R in DYT11. 1 PublicationCorresponds to variant dbSNP:rs121908491EnsemblClinVar.1
Natural variantiVAR_066742270W → R in DYT11; affects protein stability; the mutant undergoes endoplasmic reticulum-associated degradation. 2 Publications1
Natural variantiVAR_066743271C → Y in DYT11; affects protein stability; the mutant undergoes endoplasmic reticulum-associated degradation. 2 PublicationsCorresponds to variant dbSNP:rs372686312Ensembl.1
Natural variantiVAR_058089399P → H1 PublicationCorresponds to variant dbSNP:rs17851923Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_045092347 – 355Missing in isoform 2. 1 Publication9
Alternative sequenceiVSP_054079418Q → QWSFAPVAQAGVQWSDLGSL QPPPPR in isoform 3. Curated1
Alternative sequenceiVSP_045093434 – 437KWYP → DFRLTTFQRFEVNGIPEERK LTEAMNL in isoform 2. 1 Publication4

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF036364 mRNA Translation: AAC04368.1 Different initiation.
AJ000534 mRNA Translation: CAA04167.1
AF516515 mRNA Translation: AAM64204.1
AY359042 mRNA Translation: AAQ89401.1
AK313438 mRNA Translation: BAG36229.1
AC069292 Genomic DNA Translation: AAS07485.1
CH471091 Genomic DNA Translation: EAW76784.1
CH471091 Genomic DNA Translation: EAW76785.1
CH471091 Genomic DNA Translation: EAW76786.1
CH471091 Genomic DNA Translation: EAW76788.1
BC021709 mRNA Translation: AAH21709.1
AB117974 mRNA Translation: BAD21206.1 Different initiation.
AF031920 mRNA Translation: AAC14021.1
CCDSiCCDS47642.1 [O43556-3]
CCDS47643.1 [O43556-4]
CCDS5637.1 [O43556-1]
RefSeqiNP_001092870.1, NM_001099400.1 [O43556-3]
NP_001092871.1, NM_001099401.1 [O43556-4]
NP_001288068.1, NM_001301139.1
NP_003910.1, NM_003919.2 [O43556-1]
UniGeneiHs.371199

Genome annotation databases

EnsembliENST00000265735; ENSP00000265735; ENSG00000127990 [O43556-1]
ENST00000445866; ENSP00000398930; ENSG00000127990 [O43556-4]
ENST00000642933; ENSP00000496237; ENSG00000127990 [O43556-3]
GeneIDi8910
KEGGihsa:8910
UCSCiuc003unl.3 human [O43556-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiSGCE_HUMAN
AccessioniPrimary (citable) accession number: O43556
Secondary accession number(s): B2R8N2
, D6W5Q8, E9PF60, G5E9K6, Q6L8P0, Q75MH8, Q8NFG8, Q8WW28
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 27, 2001
Last sequence update: July 7, 2009
Last modified: July 18, 2018
This is version 150 of the entry and version 6 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

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