Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
We will be switching to the new UniProt website soon. Please explore and share your feedback. Take me to the new website.

UniProtKB - O43556 (SGCE_HUMAN)

Entry version 174 (23 Feb 2022)
Sequence version 6 (07 Jul 2009)
Previous versions | rss
Add a publicationFeedback
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

Complete GO annotation on QuickGO ...

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		O43556

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...SignaLinki		O43556

<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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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

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

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000127990

<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

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'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%5Flocation%5Fsection">'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 variants 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.
Related information in OMIM
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:rs1064794321EnsemblClinVar.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:rs372686312EnsemblClinVar.1

Keywords - Diseasei

Disease variant, 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

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		O43556, Tbio

Genetic variation 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 or proteolytic cleavage.<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%5Fprocessing%5Fsection">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%5Fprocessing%5Fsection">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

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		O43556

MaxQB - The MaxQuant DataBase

More...MaxQBi		O43556

PeptideAtlas

More...PeptideAtlasi		O43556

PRoteomics IDEntifications database

More...PRIDEi		O43556

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		20035
33967
49048 [O43556-1]

PTM databases

GlyConnect protein glycosylation platform

More...GlyConnecti		1218, 2 N-Linked glycans (1 site)

GlyGen: Computational and Informatics Resources for Glycoscience

More...GlyGeni		O43556, 1 site, 2 N-linked glycans (1 site)

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 female gonad and 242 other tissues

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		ENSG00000127990, Low tissue specificity

<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)

More...BioGRIDi		114424, 18 interactors

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		O43556

Protein interaction database and analysis system

More...IntActi		O43556, 10 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000398930

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		O43556, protein

<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

<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

<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

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG4482, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00390000005672

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%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<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%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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 <p><strong>What is the canonical sequence?</strong><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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.Curated
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
A0A2R8Y504A0A2R8Y504_HUMAN
Epsilon-sarcoglycan
SGCE
500Annotation score:

Annotation score:2 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>
A0A2R8YE48A0A2R8YE48_HUMAN
Epsilon-sarcoglycan
SGCE
489Annotation score:

Annotation score:2 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>
A0A2R8Y5J6A0A2R8Y5J6_HUMAN
Epsilon-sarcoglycan
SGCE
481Annotation score:

Annotation score:2 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>
A0A2R8Y5R7A0A2R8Y5R7_HUMAN
Epsilon-sarcoglycan
SGCE
485Annotation score:

Annotation score:2 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>
A0A2R8Y4X1A0A2R8Y4X1_HUMAN
Epsilon-sarcoglycan
SGCE
454Annotation score:

Annotation score:2 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>
A0A2R8Y652A0A2R8Y652_HUMAN
Epsilon-sarcoglycan
SGCE
476Annotation score:

Annotation score:2 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:2 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:2 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:2 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:2 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. Truncated N-terminus.Curated
The sequence BAD21206 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.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:rs1064794321EnsemblClinVar.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:rs372686312EnsemblClinVar.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.<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

More...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

More...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]

Genome annotation databases

Ensembl eukaryotic genome annotation project

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

Database of genes from NCBI RefSeq genomes

More...GeneIDi		8910

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:8910

Matched Annotation from NCBI and EMBL-EBI (MANE) - Phase one

More...MANE-Selecti		ENST00000648936.2; ENSP00000497130.1; NM_003919.3; NP_003910.1

UCSC genome browser

More...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]

3D structure databases

Database of comparative protein structure models

More...ModBasei		Search...

SWISS-MODEL Interactive Workspace

More...SWISS-MODEL-Workspacei		Submit a new modelling project...

Protein-protein interaction databases

BioGRIDi114424, 18 interactors
CORUMiO43556
IntActiO43556, 10 interactors
STRINGi9606.ENSP00000398930

PTM databases

GlyConnecti1218, 2 N-Linked glycans (1 site)
GlyGeniO43556, 1 site, 2 N-linked glycans (1 site)
iPTMnetiO43556
PhosphoSitePlusiO43556
SwissPalmiO43556

Genetic variation databases

BioMutaiSGCE

Proteomic databases

EPDiO43556
jPOSTiO43556
MassIVEiO43556
MaxQBiO43556
PeptideAtlasiO43556
PRIDEiO43556
ProteomicsDBi20035
33967
49048 [O43556-1]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		30109, 150 antibodies from 26 providers

The DNASU plasmid repository

More...DNASUi		8910

Genome annotation databases

EnsembliENST00000445866; ENSP00000398930; ENSG00000127990 [O43556-4]
ENST00000642933; ENSP00000496237; ENSG00000127990 [O43556-3]
ENST00000648936; ENSP00000497130; ENSG00000127990
GeneIDi8910
KEGGihsa:8910
MANE-SelectiENST00000648936.2; ENSP00000497130.1; NM_003919.3; NP_003910.1
UCSCiuc003unl.3, human [O43556-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		8910
DisGeNETi8910

GeneCards: human genes, protein and diseases

More...GeneCardsi		SGCE
GeneReviewsiSGCE
HGNCiHGNC:10808, SGCE
HPAiENSG00000127990, Low tissue specificity
MalaCardsiSGCE
MIMi159900, phenotype
604149, gene
neXtProtiNX_O43556
OpenTargetsiENSG00000127990
Orphaneti36899, Myoclonus-dystonia syndrome
PharmGKBiPA35719
VEuPathDBiHostDB:ENSG00000127990

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG4482, Eukaryota
GeneTreeiENSGT00390000005672
InParanoidiO43556
OrthoDBi534519at2759
PhylomeDBiO43556
TreeFamiTF314655

Enzyme and pathway databases

PathwayCommonsiO43556
SignaLinkiO43556

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		8910, 35 hits in 1042 CRISPR screens

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
PharosiO43556, Tbio

Protein Ontology

More...PROi		PR:O43556
RNActiO43556, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000127990, Expressed in female gonad and 242 other tissues
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

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		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%5Fand%5Fisoforms">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: February 23, 2022
This is version 174 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

Reference proteome

Documents

  1. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  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
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again