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Entry version 186 (22 Apr 2020)
Sequence version 1 (01 Nov 1996)
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Protein

Alpha-sarcoglycan

Gene

SGCA

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 - Molecular functioni

GO - Biological processi

Enzyme and pathway databases

SIGNOR Signaling Network Open Resource

More...
SIGNORi
Q16586

<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:
Alpha-sarcoglycan
Short name:
Alpha-SG
Alternative name(s):
50 kDa dystrophin-associated glycoprotein
Short name:
50DAG
Adhalin
Dystroglycan-2
<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:SGCA
Synonyms:ADL, DAG2
<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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<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 17

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:10805 SGCA

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
600119 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q16586

<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 & Seán O’Donoghue; Source: COMPARTMENTS

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 domaini24 – 290ExtracellularSequence analysisAdd BLAST267
<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>Transmembranei291 – 311HelicalSequence analysisAdd BLAST21
Topological domaini312 – 387CytoplasmicSequence analysisAdd BLAST76

<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, Cytoplasm, Cytoskeleton, 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

Muscular dystrophy, limb-girdle, autosomal recessive 3 (LGMDR3)8 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive degenerative myopathy characterized by progressive muscle wasting from early childhood with loss of independent ambulation by teenage years. Muscle biopsy shows necrosis, decreased immunostaining for alpha sarcoglycan, and adhalin deficiency.
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_01040230P → L in LGMDR3. 1 PublicationCorresponds to variant dbSNP:rs886043256EnsemblClinVar.1
Natural variantiVAR_01040331L → P in LGMDR3. Corresponds to variant dbSNP:rs903823830EnsemblClinVar.1
Natural variantiVAR_01040434R → C in LGMDR3. 1 PublicationCorresponds to variant dbSNP:rs758647756EnsemblClinVar.1
Natural variantiVAR_01040534R → H in LGMDR3. 1 PublicationCorresponds to variant dbSNP:rs371675217EnsemblClinVar.1
Natural variantiVAR_01040662Y → H in LGMDR3. 1 Publication1
Natural variantiVAR_01040768G → E in LGMDR3. 1 Publication1
Natural variantiVAR_01040874R → W in LGMDR3. 1 PublicationCorresponds to variant dbSNP:rs757888349EnsemblClinVar.1
Natural variantiVAR_08109876L → F in LGMDR3. 1 PublicationCorresponds to variant dbSNP:rs1555568335EnsemblClinVar.1
Natural variantiVAR_01038777R → C in LGMDR3. 5 PublicationsCorresponds to variant dbSNP:rs28933693EnsemblClinVar.1
Natural variantiVAR_08109981R → C in LGMDR3. 1 PublicationCorresponds to variant dbSNP:rs398123098EnsemblClinVar.1
Natural variantiVAR_01040989L → P in LGMDR3. Corresponds to variant dbSNP:rs1435014211Ensembl.1
Natural variantiVAR_01041091G → R in LGMDR3. 1 Publication1
Natural variantiVAR_01041193A → V in LGMDR3. 1 Publication1
Natural variantiVAR_01041297D → G in LGMDR3. 1 PublicationCorresponds to variant dbSNP:rs1555568396EnsemblClinVar.1
Natural variantiVAR_01041398R → C in LGMDR3. Corresponds to variant dbSNP:rs138945081EnsemblClinVar.1
Natural variantiVAR_01038898R → H in LGMDR3. 2 PublicationsCorresponds to variant dbSNP:rs137852621EnsemblClinVar.1
Natural variantiVAR_010414103I → T in LGMDR3. Corresponds to variant dbSNP:rs1161291343EnsemblClinVar.1
Natural variantiVAR_010415124I → T in LGMDR3. 2 PublicationsCorresponds to variant dbSNP:rs768814872EnsemblClinVar.1
Natural variantiVAR_037965136A → APGAQP in LGMDR3; associated with G-137. 1
Natural variantiVAR_037966137E → G in LGMDR3; associated with P-G-A-Q-P-136 ins. 1 PublicationCorresponds to variant dbSNP:rs397514451EnsemblClinVar.1
Natural variantiVAR_010416137E → K in LGMDR3. 1 PublicationCorresponds to variant dbSNP:rs372210292EnsemblClinVar.1
Natural variantiVAR_010417158L → F in LGMDR3. 1 Publication1
Natural variantiVAR_010431173L → P in LGMDR3. 2 PublicationsCorresponds to variant dbSNP:rs143962150EnsemblClinVar.1
Natural variantiVAR_010389175V → A in LGMDR3. 1 PublicationCorresponds to variant dbSNP:rs137852622EnsemblClinVar.1
Natural variantiVAR_010418196V → I in LGMDR3. 1 PublicationCorresponds to variant dbSNP:rs752695991EnsemblClinVar.1
Natural variantiVAR_010419205P → H in LGMDR3. 1 PublicationCorresponds to variant dbSNP:rs757481230EnsemblClinVar.1
Natural variantiVAR_010432228P → Q in LGMDR3. 1
Natural variantiVAR_010420242V → A in LGMDR3. Corresponds to variant dbSNP:rs1384158714Ensembl.1
Natural variantiVAR_010433247V → M in LGMDR3. Corresponds to variant dbSNP:rs143570936EnsemblClinVar.1
Natural variantiVAR_010390284R → C in LGMDR3. 2 PublicationsCorresponds to variant dbSNP:rs137852623EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Limb-girdle muscular dystrophy

Organism-specific databases

DisGeNET

More...
DisGeNETi
6442

MalaCards human disease database

More...
MalaCardsi
SGCA
MIMi608099 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000108823

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

More...
Orphaneti
62 Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA35716

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q16586 Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
SGCA

<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 denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 23Sequence analysisAdd BLAST23
<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_000003167324 – 387Alpha-sarcoglycanAdd BLAST364

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>Glycosylationi174N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi246N-linked (GlcNAc...) asparagineSequence analysis1
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei377PhosphoserineBy similarity1

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q16586

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
Q16586

PeptideAtlas

More...
PeptideAtlasi
Q16586

PRoteomics IDEntifications database

More...
PRIDEi
Q16586

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
60931 [Q16586-1]
60932 [Q16586-2]

PTM databases

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

More...
PhosphoSitePlusi
Q16586

<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

Most strongly expressed in skeletal muscle. Also expressed in cardiac muscle and, at much lower levels, in lung. In the fetus, most abundant in cardiac muscle and, at lower levels, in lung. Also detected in liver and kidney. Not expressed in brain.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000108823 Expressed in gastrocnemius and 120 other tissues

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q16586 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q16586 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000108823 Tissue enhanced (skeletal)

<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

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with the syntrophin SNTA1. Cross-link to form 2 major subcomplexes: one consisting of SGCB, SGCD and SGCG and the other consisting of SGCB and SGCD. The association between SGCB and SGCG is particularly strong while SGCA is loosely associated with the other sarcoglycans (By similarity).

By similarity

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Show more details

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
112340, 13 interactors

CORUM comprehensive resource of mammalian protein complexes

More...
CORUMi
Q16586

Protein interaction database and analysis system

More...
IntActi
Q16586, 12 interactors

Molecular INTeraction database

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MINTi
Q16586

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000262018

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q16586 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

3D structure databases

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

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SMRi
Q16586

Database of comparative protein structure models

More...
ModBasei
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

<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

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG4482 Eukaryota
ENOG4110FPC LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00390000005672

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_053258_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q16586

KEGG Orthology (KO)

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KOi
K12565

Identification of Orthologs from Complete Genome Data

More...
OMAi
MSSTVQM

Database of Orthologous Groups

More...
OrthoDBi
534519at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q16586

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
IPR028658 Alpha-SG
IPR006644 Cadg
IPR015919 Cadherin-like_sf
IPR008908 Sarcoglycan_alpha/epsilon

The PANTHER Classification System

More...
PANTHERi
PTHR10132 PTHR10132, 1 hit
PTHR10132:SF16 PTHR10132:SF16, 1 hit

Pfam protein domain database

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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

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF49313 SSF49313, 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 (2+)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.

<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 in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 <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. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 6 potential isoforms that are computationally mapped.Show allAlign All

Isoform SGCA-1 (identifier: Q16586-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><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
MAETLFWTPL LVVLLAGLGD TEAQQTTLHP LVGRVFVHTL DHETFLSLPE
60 70 80 90 100
HVAVPPAVHI TYHAHLQGHP DLPRWLRYTQ RSPHHPGFLY GSATPEDRGL
110 120 130 140 150
QVIEVTAYNR DSFDTTRQRL VLEIGDPEGP LLPYQAEFLV RSHDAEEVLP
160 170 180 190 200
STPASRFLSA LGGLWEPGEL QLLNVTSALD RGGRVPLPIE GRKEGVYIKV
210 220 230 240 250
GSASPFSTCL KMVASPDSHA RCAQGQPPLL SCYDTLAPHF RVDWCNVTLV
260 270 280 290 300
DKSVPEPADE VPTPGDGILE HDPFFCPPTE APDRDFLVDA LVTLLVPLLV
310 320 330 340 350
ALLLTLLLAY VMCCRREGRL KRDLATSDIQ MVHHCTIHGN TEELRQMAAS
360 370 380
REVPRPLSTL PMFNVHTGER LPPRVDSAQV PLILDQH
Length:387
Mass (Da):42,875
Last modified:November 1, 1996 - v1
<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:i9CD0270A00BE03E6
GO
Isoform SGCA-2 (identifier: Q16586-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     196-319: Missing.

Show »
Length:263
Mass (Da):29,354
Checksum:iA5437E496658776B
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 6 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E9PCT8E9PCT8_HUMAN
Alpha-sarcoglycan
SGCA
298Annotation 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>
H0Y8T1H0Y8T1_HUMAN
Alpha-sarcoglycan
SGCA
160Annotation 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>
H0YAB9H0YAB9_HUMAN
Alpha-sarcoglycan
SGCA
58Annotation 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>
H7C5V0H7C5V0_HUMAN
Alpha-sarcoglycan
SGCA
196Annotation 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>
D6RAA4D6RAA4_HUMAN
Alpha-sarcoglycan
SGCA
61Annotation 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>
D6R9S3D6R9S3_HUMAN
Alpha-sarcoglycan
SGCA
65Annotation 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>

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01040230P → L in LGMDR3. 1 PublicationCorresponds to variant dbSNP:rs886043256EnsemblClinVar.1
Natural variantiVAR_01040331L → P in LGMDR3. Corresponds to variant dbSNP:rs903823830EnsemblClinVar.1
Natural variantiVAR_01040434R → C in LGMDR3. 1 PublicationCorresponds to variant dbSNP:rs758647756EnsemblClinVar.1
Natural variantiVAR_01040534R → H in LGMDR3. 1 PublicationCorresponds to variant dbSNP:rs371675217EnsemblClinVar.1
Natural variantiVAR_01040662Y → H in LGMDR3. 1 Publication1
Natural variantiVAR_01040768G → E in LGMDR3. 1 Publication1
Natural variantiVAR_01040874R → W in LGMDR3. 1 PublicationCorresponds to variant dbSNP:rs757888349EnsemblClinVar.1
Natural variantiVAR_08109876L → F in LGMDR3. 1 PublicationCorresponds to variant dbSNP:rs1555568335EnsemblClinVar.1
Natural variantiVAR_01038777R → C in LGMDR3. 5 PublicationsCorresponds to variant dbSNP:rs28933693EnsemblClinVar.1
Natural variantiVAR_08109981R → C in LGMDR3. 1 PublicationCorresponds to variant dbSNP:rs398123098EnsemblClinVar.1
Natural variantiVAR_01040989L → P in LGMDR3. Corresponds to variant dbSNP:rs1435014211Ensembl.1
Natural variantiVAR_01041091G → R in LGMDR3. 1 Publication1
Natural variantiVAR_01041193A → V in LGMDR3. 1 Publication1
Natural variantiVAR_01041297D → G in LGMDR3. 1 PublicationCorresponds to variant dbSNP:rs1555568396EnsemblClinVar.1
Natural variantiVAR_01041398R → C in LGMDR3. Corresponds to variant dbSNP:rs138945081EnsemblClinVar.1
Natural variantiVAR_01038898R → H in LGMDR3. 2 PublicationsCorresponds to variant dbSNP:rs137852621EnsemblClinVar.1
Natural variantiVAR_010414103I → T in LGMDR3. Corresponds to variant dbSNP:rs1161291343EnsemblClinVar.1
Natural variantiVAR_010415124I → T in LGMDR3. 2 PublicationsCorresponds to variant dbSNP:rs768814872EnsemblClinVar.1
Natural variantiVAR_037965136A → APGAQP in LGMDR3; associated with G-137. 1
Natural variantiVAR_037966137E → G in LGMDR3; associated with P-G-A-Q-P-136 ins. 1 PublicationCorresponds to variant dbSNP:rs397514451EnsemblClinVar.1
Natural variantiVAR_010416137E → K in LGMDR3. 1 PublicationCorresponds to variant dbSNP:rs372210292EnsemblClinVar.1
Natural variantiVAR_010417158L → F in LGMDR3. 1 Publication1
Natural variantiVAR_010431173L → P in LGMDR3. 2 PublicationsCorresponds to variant dbSNP:rs143962150EnsemblClinVar.1
Natural variantiVAR_010389175V → A in LGMDR3. 1 PublicationCorresponds to variant dbSNP:rs137852622EnsemblClinVar.1
Natural variantiVAR_010418196V → I in LGMDR3. 1 PublicationCorresponds to variant dbSNP:rs752695991EnsemblClinVar.1
Natural variantiVAR_010419205P → H in LGMDR3. 1 PublicationCorresponds to variant dbSNP:rs757481230EnsemblClinVar.1
Natural variantiVAR_010432228P → Q in LGMDR3. 1
Natural variantiVAR_010420242V → A in LGMDR3. Corresponds to variant dbSNP:rs1384158714Ensembl.1
Natural variantiVAR_010433247V → M in LGMDR3. Corresponds to variant dbSNP:rs143570936EnsemblClinVar.1
Natural variantiVAR_010390284R → C in LGMDR3. 2 PublicationsCorresponds to variant dbSNP:rs137852623EnsemblClinVar.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_006017196 – 319Missing in isoform SGCA-2. CuratedAdd BLAST124

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
U08895 mRNA Translation: AAA81637.1
L34355 mRNA Translation: AAA35510.1
L35853 mRNA Translation: AAA50461.1
AK290622 mRNA Translation: BAF83311.1
AC015909 Genomic DNA No translation available.
CH471109 Genomic DNA Translation: EAW94635.1
BC025702 mRNA Translation: AAH25702.1
L46810 mRNA Translation: AAC37583.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS32679.1 [Q16586-1]
CCDS45729.1 [Q16586-2]

Protein sequence database of the Protein Information Resource

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PIRi
A54746

NCBI Reference Sequences

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RefSeqi
NP_000014.1, NM_000023.3 [Q16586-1]
NP_001129169.1, NM_001135697.2 [Q16586-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000262018; ENSP00000262018; ENSG00000108823 [Q16586-1]
ENST00000344627; ENSP00000345522; ENSG00000108823 [Q16586-2]

Database of genes from NCBI RefSeq genomes

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GeneIDi
6442

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:6442

UCSC genome browser

More...
UCSCi
uc002iqi.4 human [Q16586-1]

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

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross%5Freferences%5Fsection">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Leiden Muscular Dystrophy pages

SGCA mutations in LGMD2D

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U08895 mRNA Translation: AAA81637.1
L34355 mRNA Translation: AAA35510.1
L35853 mRNA Translation: AAA50461.1
AK290622 mRNA Translation: BAF83311.1
AC015909 Genomic DNA No translation available.
CH471109 Genomic DNA Translation: EAW94635.1
BC025702 mRNA Translation: AAH25702.1
L46810 mRNA Translation: AAC37583.1
CCDSiCCDS32679.1 [Q16586-1]
CCDS45729.1 [Q16586-2]
PIRiA54746
RefSeqiNP_000014.1, NM_000023.3 [Q16586-1]
NP_001129169.1, NM_001135697.2 [Q16586-2]

3D structure databases

SMRiQ16586
ModBaseiSearch...

Protein-protein interaction databases

BioGridi112340, 13 interactors
CORUMiQ16586
IntActiQ16586, 12 interactors
MINTiQ16586
STRINGi9606.ENSP00000262018

PTM databases

PhosphoSitePlusiQ16586

Polymorphism and mutation databases

BioMutaiSGCA

Proteomic databases

MassIVEiQ16586
PaxDbiQ16586
PeptideAtlasiQ16586
PRIDEiQ16586
ProteomicsDBi60931 [Q16586-1]
60932 [Q16586-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...
Antibodypediai
2323 193 antibodies

The DNASU plasmid repository

More...
DNASUi
6442

Genome annotation databases

EnsembliENST00000262018; ENSP00000262018; ENSG00000108823 [Q16586-1]
ENST00000344627; ENSP00000345522; ENSG00000108823 [Q16586-2]
GeneIDi6442
KEGGihsa:6442
UCSCiuc002iqi.4 human [Q16586-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
6442
DisGeNETi6442

GeneCards: human genes, protein and diseases

More...
GeneCardsi
SGCA
HGNCiHGNC:10805 SGCA
HPAiENSG00000108823 Tissue enhanced (skeletal)
MalaCardsiSGCA
MIMi600119 gene
608099 phenotype
neXtProtiNX_Q16586
OpenTargetsiENSG00000108823
Orphaneti62 Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3
PharmGKBiPA35716

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG4482 Eukaryota
ENOG4110FPC LUCA
GeneTreeiENSGT00390000005672
HOGENOMiCLU_053258_0_0_1
InParanoidiQ16586
KOiK12565
OMAiMSSTVQM
OrthoDBi534519at2759
PhylomeDBiQ16586
TreeFamiTF314655

Enzyme and pathway databases

SIGNORiQ16586

Miscellaneous databases

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

More...
ChiTaRSi
SGCA human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
SGCA

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

More...
GenomeRNAii
6442
PharosiQ16586 Tbio

Protein Ontology

More...
PROi
PR:Q16586
RNActiQ16586 protein

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000108823 Expressed in gastrocnemius and 120 other tissues
ExpressionAtlasiQ16586 baseline and differential
GenevisibleiQ16586 HS

Family and domain databases

InterProiView protein in InterPro
IPR028658 Alpha-SG
IPR006644 Cadg
IPR015919 Cadherin-like_sf
IPR008908 Sarcoglycan_alpha/epsilon
PANTHERiPTHR10132 PTHR10132, 1 hit
PTHR10132:SF16 PTHR10132:SF16, 1 hit
PfamiView protein in Pfam
PF05510 Sarcoglycan_2, 1 hit
SMARTiView protein in SMART
SM00736 CADG, 1 hit
SUPFAMiSSF49313 SSF49313, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

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 nameiSGCA_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: Q16586
Secondary accession number(s): A6NEB8
, A8K3K7, Q13710, Q13712
<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: November 1, 1996
Last modified: April 22, 2020
This is version 186 of the entry and version 1 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. SIMILARITY comments
    Index of protein domains and families
  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. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
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