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Protein

Epsilon-sarcoglycan

Gene

SGCE

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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.

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Biological processi

  • cell-matrix adhesion Source: ProtInc
  • muscle organ development Source: ProtInc
  • skeletal muscle tissue development Source: GO_Central

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Epsilon-sarcoglycan
Short name:
Epsilon-SG
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:SGCE
Synonyms:ESG
ORF Names:UNQ433/PRO840
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 7

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000127990.15

Human Gene Nomenclature Database

More...
HGNCi
HGNC:10808 SGCE

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
604149 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_O43556

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini1 – 317ExtracellularSequence analysisAdd BLAST317
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei318 – 338HelicalSequence analysisAdd BLAST21
Topological domaini339 – 437CytoplasmicSequence analysisAdd BLAST99

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Cellular componenti

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

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>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

DisGeNET

More...
DisGeNETi
8910

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...
GeneReviewsi
SGCE

MalaCards human disease database

More...
MalaCardsi
SGCE
MIMi159900 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000127990

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
36899 Myoclonus-dystonia syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA35719

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
SGCE

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000316771 – 437Epsilon-sarcoglycanAdd BLAST437

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi200N-linked (GlcNAc...) asparagine1 Publication1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

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

Keywords - PTMi

Glycoprotein, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
O43556

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
O43556

MaxQB - The MaxQuant DataBase

More...
MaxQBi
O43556

PeptideAtlas

More...
PeptideAtlasi
O43556

PRoteomics IDEntifications database

More...
PRIDEi
O43556

ProteomicsDB human proteome resource

More...
ProteomicsDBi
49048

PTM databases

GlyConnect protein glycosylation platform

More...
GlyConnecti
1218

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
O43556

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
O43556

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
O43556

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Ubiquitous.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000127990 Expressed in 230 organ(s), highest expression level in left adrenal gland

CleanEx database of gene expression profiles

More...
CleanExi
HS_SGCE

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
O43556 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
O43556 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA074790

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
114424, 7 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
O43556

Protein interaction database and analysis system

More...
IntActi
O43556, 4 interactors

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
O43556

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
O43556

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi235 – 341Cys-richAdd BLAST107

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the sarcoglycan alpha/epsilon family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000005672

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000074154

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG006891

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
O43556

Database of Orthologous Groups

More...
OrthoDBi
534519at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
O43556

TreeFam database of animal gene trees

More...
TreeFami
TF314655

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR006644 Cadg
IPR008908 Sarcoglycan_alpha/epsilon
IPR030775 SGCE

The PANTHER Classification System

More...
PANTHERi
PTHR10132 PTHR10132, 1 hit
PTHR10132:SF17 PTHR10132:SF17, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF05510 Sarcoglycan_2, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00736 CADG, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 3 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 55 potential isoforms that are computationally mapped.Show allAlign All

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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 55 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A2R8Y5J6A0A2R8Y5J6_HUMAN
Epsilon-sarcoglycan
SGCE
481Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
C9JR67C9JR67_HUMAN
Epsilon-sarcoglycan
SGCE
428Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E9PEH6E9PEH6_HUMAN
Epsilon-sarcoglycan
SGCE
396Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
B7Z2R4B7Z2R4_HUMAN
Epsilon-sarcoglycan
SGCE
471Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0YC75H0YC75_HUMAN
Epsilon-sarcoglycan
SGCE
41Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8YH84A0A2R8YH84_HUMAN
Epsilon-sarcoglycan
SGCE
458Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8Y5J3A0A2R8Y5J3_HUMAN
Epsilon-sarcoglycan
SGCE
464Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8YGQ3A0A2R8YGQ3_HUMAN
Epsilon-sarcoglycan
SGCE
473Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8Y5M2A0A2R8Y5M2_HUMAN
Epsilon-sarcoglycan
SGCE
487Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8Y2R1A0A2R8Y2R1_HUMAN
Epsilon-sarcoglycan
SGCE
450Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
There are more potential isoformsShow all

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>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
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>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
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>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:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
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

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS47642.1 [O43556-3]
CCDS47643.1 [O43556-4]
CCDS5637.1 [O43556-1]

NCBI Reference Sequences

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RefSeqi
NP_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]

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.371199

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000265735; ENSP00000265735; ENSG00000127990 [O43556-1]
ENST00000445866; ENSP00000398930; ENSG00000127990 [O43556-4]
ENST00000642933; ENSP00000496237; ENSG00000127990 [O43556-3]
ENST00000648936; ENSP00000497130; ENSG00000127990 [O43556-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
8910

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:8910

UCSC genome browser

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UCSCi
uc003unl.3 human [O43556-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

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

3D structure databases

ProteinModelPortaliO43556
SMRiO43556
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi114424, 7 interactors
CORUMiO43556
IntActiO43556, 4 interactors

PTM databases

GlyConnecti1218
iPTMnetiO43556
PhosphoSitePlusiO43556
SwissPalmiO43556

Polymorphism and mutation databases

BioMutaiSGCE

Proteomic databases

EPDiO43556
jPOSTiO43556
MaxQBiO43556
PeptideAtlasiO43556
PRIDEiO43556
ProteomicsDBi49048

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
8910
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000265735; ENSP00000265735; ENSG00000127990 [O43556-1]
ENST00000445866; ENSP00000398930; ENSG00000127990 [O43556-4]
ENST00000642933; ENSP00000496237; ENSG00000127990 [O43556-3]
ENST00000648936; ENSP00000497130; ENSG00000127990 [O43556-1]
GeneIDi8910
KEGGihsa:8910
UCSCiuc003unl.3 human [O43556-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
8910
DisGeNETi8910
EuPathDBiHostDB:ENSG00000127990.15

GeneCards: human genes, protein and diseases

More...
GeneCardsi
SGCE
GeneReviewsiSGCE
HGNCiHGNC:10808 SGCE
HPAiHPA074790
MalaCardsiSGCE
MIMi159900 phenotype
604149 gene
neXtProtiNX_O43556
OpenTargetsiENSG00000127990
Orphaneti36899 Myoclonus-dystonia syndrome
PharmGKBiPA35719

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

GeneTreeiENSGT00390000005672
HOGENOMiHOG000074154
HOVERGENiHBG006891
InParanoidiO43556
OrthoDBi534519at2759
PhylomeDBiO43556
TreeFamiTF314655

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
SGCE human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
SGCE

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
8910

Protein Ontology

More...
PROi
PR:O43556

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000127990 Expressed in 230 organ(s), highest expression level in left adrenal gland
CleanExiHS_SGCE
ExpressionAtlasiO43556 baseline and differential
GenevisibleiO43556 HS

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

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiSGCE_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: O43556
Secondary accession number(s): B2R8N2
, D6W5Q8, E9PF60, G5E9K6, Q6L8P0, Q75MH8, Q8NFG8, Q8WW28
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 27, 2001
Last sequence update: July 7, 2009
Last modified: January 16, 2019
This is version 155 of the entry and version 6 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

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