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Entry version 175 (07 Oct 2020)
Sequence version 1 (01 Nov 1996)
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Protein

Beta-sarcoglycan

Gene

SGCB

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

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...
PathwayCommonsi
Q16585

SIGNOR Signaling Network Open Resource

More...
SIGNORi
Q16585

<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:
Beta-sarcoglycan
Short name:
Beta-SG
Alternative name(s):
43 kDa dystrophin-associated glycoprotein
Short name:
43DAG
A3b
<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:SGCB
<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 4

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000163069.12

Human Gene Nomenclature Database

More...
HGNCi
HGNC:10806, SGCB

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
600900, gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q16585

<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 domaini1 – 65CytoplasmicSequence analysisAdd BLAST65
<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>Transmembranei66 – 86Helical; Signal-anchor for type II membrane proteinSequence analysisAdd BLAST21
Topological domaini87 – 318ExtracellularSequence analysisAdd BLAST232

<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 4 (LGMDR4)5 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive degenerative myopathy characterized by pelvic and shoulder muscle wasting, onset usually in childhood and variable progression rate.
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_01042111Q → E in LGMDR4. 1 PublicationCorresponds to variant dbSNP:rs752492870EnsemblClinVar.1
Natural variantiVAR_08110038 – 318Missing in LGMDR4. 1 PublicationAdd BLAST281
Natural variantiVAR_01042291R → C in LGMDR4. 1 PublicationCorresponds to variant dbSNP:rs555514820EnsemblClinVar.1
Natural variantiVAR_01039191R → L in LGMDR4. 1 PublicationCorresponds to variant dbSNP:rs104893869EnsemblClinVar.1
Natural variantiVAR_01039291R → P in LGMDR4. 1 PublicationCorresponds to variant dbSNP:rs104893869EnsemblClinVar.1
Natural variantiVAR_010393100M → K in LGMDR4. 1 PublicationCorresponds to variant dbSNP:rs104893871EnsemblClinVar.1
Natural variantiVAR_010394108L → R in LGMDR4. 1 PublicationCorresponds to variant dbSNP:rs104893870EnsemblClinVar.1
Natural variantiVAR_010423114S → F in LGMDR4. 1 PublicationCorresponds to variant dbSNP:rs150518260EnsemblClinVar.1
Natural variantiVAR_010424119I → F in LGMDR4. 1 PublicationCorresponds to variant dbSNP:rs762412447EnsemblClinVar.1
Natural variantiVAR_010425139G → D in LGMDR4. 1 PublicationCorresponds to variant dbSNP:rs1560567653EnsemblClinVar.1
Natural variantiVAR_010395151T → R in LGMDR4. 1 PublicationCorresponds to variant dbSNP:rs28936383EnsemblClinVar.1
Natural variantiVAR_010426167G → S in LGMDR4. Corresponds to variant dbSNP:rs779516489EnsemblClinVar.1
Natural variantiVAR_010427182T → A in LGMDR4. 1 Publication1

Keywords - Diseasei

Disease mutation, Limb-girdle muscular dystrophy

Organism-specific databases

DisGeNET

More...
DisGeNETi
6443

MalaCards human disease database

More...
MalaCardsi
SGCB
MIMi604286, phenotype

Open Targets

More...
OpenTargetsi
ENSG00000163069

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

More...
Orphaneti
119, Beta-sarcoglycan-related limb-girdle muscular dystrophy R4

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA35717

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q16585, Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
SGCB

Domain mapping of disease mutations (DMDM)

More...
DMDMi
13431857

<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_00001752421 – 318Beta-sarcoglycanAdd BLAST318

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>Glycosylationi158N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi211N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi258N-linked (GlcNAc...) asparagineSequence analysis1
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi288 ↔ 314Sequence analysis
Disulfide bondi290 ↔ 307Sequence analysis

<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

Disulfide bonds are present.By similarity

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q16585

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q16585

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q16585

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

More...
PaxDbi
Q16585

PeptideAtlas

More...
PeptideAtlasi
Q16585

PRoteomics IDEntifications database

More...
PRIDEi
Q16585

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
60930 [Q16585-1]
6740

PTM databases

GlyGen: Computational and Informatics Resources for Glycoscience

More...
GlyGeni
Q16585, 4 sites

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q16585

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

More...
PhosphoSitePlusi
Q16585

<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

Highest expression in heart and skeletal muscle. Low expression in brain, kidney, placenta, pancreas and lung. High expression in fetal brain. Also found in fetal lung, kidney and liver.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000163069, Expressed in tendon of biceps brachii and 244 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q16585, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q16585, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000163069, 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

<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

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">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

Hide details

<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

More...
SMRi
Q16585

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

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 biasi97 – 314Cys-richAdd BLAST218

<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

Keywords - Domaini

Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG502QUW4, Eukaryota

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000008110

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_066515_1_0_1

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q16585

KEGG Orthology (KO)

More...
KOi
K12566

Identification of Orthologs from Complete Genome Data

More...
OMAi
SVQYKIC

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q16585

TreeFam database of animal gene trees

More...
TreeFami
TF313538

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR006875, Sarcoglycan
IPR027659, Sgcb

The PANTHER Classification System

More...
PANTHERi
PTHR21142, PTHR21142, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF04790, Sarcoglycan_1, 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.

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 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q16585-1) [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
MAAAAAAAAE QQSSNGPVKK SMREKAVERR SVNKEHNSNF KAGYIPIDED
60 70 80 90 100
RLHKTGLRGR KGNLAICVII LLFILAVINL IITLVIWAVI RIGPNGCDSM
110 120 130 140 150
EFHESGLLRF KQVSDMGVIH PLYKSTVGGR RNENLVITGN NQPIVFQQGT
160 170 180 190 200
TKLSVENNKT SITSDIGMQF FDPRTQNILF STDYETHEFH LPSGVKSLNV
210 220 230 240 250
QKASTERITS NATSDLNIKV DGRAIVRGNE GVFIMGKTIE FHMGGNMELK
260 270 280 290 300
AENSIILNGS VMVSTTRLPS SSSGDQLGSG DWVRYKLCMC ADGTLFKVQV
310
TSQNMGCQIS DNPCGNTH
Length:318
Mass (Da):34,777
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:iDAC5E93D1AB6C80C
GO
Isoform 2 (identifier: Q16585-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     12-81: Missing.

Show »
Length:248
Mass (Da):26,924
Checksum:i8ADEB947A629AC43
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 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0Y8J3H0Y8J3_HUMAN
Beta-sarcoglycan
SGCB
100Annotation 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>
H0YA15H0YA15_HUMAN
Beta-sarcoglycan
SGCB
93Annotation 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>

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01042111Q → E in LGMDR4. 1 PublicationCorresponds to variant dbSNP:rs752492870EnsemblClinVar.1
Natural variantiVAR_08110038 – 318Missing in LGMDR4. 1 PublicationAdd BLAST281
Natural variantiVAR_01042291R → C in LGMDR4. 1 PublicationCorresponds to variant dbSNP:rs555514820EnsemblClinVar.1
Natural variantiVAR_01039191R → L in LGMDR4. 1 PublicationCorresponds to variant dbSNP:rs104893869EnsemblClinVar.1
Natural variantiVAR_01039291R → P in LGMDR4. 1 PublicationCorresponds to variant dbSNP:rs104893869EnsemblClinVar.1
Natural variantiVAR_010393100M → K in LGMDR4. 1 PublicationCorresponds to variant dbSNP:rs104893871EnsemblClinVar.1
Natural variantiVAR_010394108L → R in LGMDR4. 1 PublicationCorresponds to variant dbSNP:rs104893870EnsemblClinVar.1
Natural variantiVAR_010423114S → F in LGMDR4. 1 PublicationCorresponds to variant dbSNP:rs150518260EnsemblClinVar.1
Natural variantiVAR_010424119I → F in LGMDR4. 1 PublicationCorresponds to variant dbSNP:rs762412447EnsemblClinVar.1
Natural variantiVAR_010425139G → D in LGMDR4. 1 PublicationCorresponds to variant dbSNP:rs1560567653EnsemblClinVar.1
Natural variantiVAR_010395151T → R in LGMDR4. 1 PublicationCorresponds to variant dbSNP:rs28936383EnsemblClinVar.1
Natural variantiVAR_010426167G → S in LGMDR4. Corresponds to variant dbSNP:rs779516489EnsemblClinVar.1
Natural variantiVAR_010427182T → A in LGMDR4. 1 Publication1
Natural variantiVAR_010428184Y → C Probable disease-associated variant found in a patient with a myopathy resembling Becker muscular dystrophy. 1 PublicationCorresponds to variant dbSNP:rs1365923535EnsemblClinVar.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_05689412 – 81Missing in isoform 2. 1 PublicationAdd BLAST70

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
U31116 mRNA Translation: AAA87034.1
U29586 mRNA Translation: AAB41291.1
U63801 U63800 Genomic DNA Translation: AAB46956.1
Y09781 Genomic DNA Translation: CAA70920.1
AK299765 mRNA Translation: BAH13121.1
AC093858 Genomic DNA No translation available.
BC020709 mRNA Translation: AAH20709.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS3488.1 [Q16585-1]

Protein sequence database of the Protein Information Resource

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PIRi
I39151

NCBI Reference Sequences

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RefSeqi
NP_000223.1, NM_000232.4 [Q16585-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000381431; ENSP00000370839; ENSG00000163069 [Q16585-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
6443

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:6443

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

SGCB mutations in LGMD2E

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U31116 mRNA Translation: AAA87034.1
U29586 mRNA Translation: AAB41291.1
U63801 U63800 Genomic DNA Translation: AAB46956.1
Y09781 Genomic DNA Translation: CAA70920.1
AK299765 mRNA Translation: BAH13121.1
AC093858 Genomic DNA No translation available.
BC020709 mRNA Translation: AAH20709.1
CCDSiCCDS3488.1 [Q16585-1]
PIRiI39151
RefSeqiNP_000223.1, NM_000232.4 [Q16585-1]

3D structure databases

SMRiQ16585
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi112341, 29 interactors
CORUMiQ16585
IntActiQ16585, 32 interactors
MINTiQ16585
STRINGi9606.ENSP00000370839

PTM databases

GlyGeniQ16585, 4 sites
iPTMnetiQ16585
PhosphoSitePlusiQ16585

Polymorphism and mutation databases

BioMutaiSGCB
DMDMi13431857

Proteomic databases

EPDiQ16585
jPOSTiQ16585
MassIVEiQ16585
PaxDbiQ16585
PeptideAtlasiQ16585
PRIDEiQ16585
ProteomicsDBi60930 [Q16585-1]
6740

Protocols and materials databases

Antibodypedia a portal for validated antibodies

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Antibodypediai
2557, 218 antibodies

The DNASU plasmid repository

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DNASUi
6443

Genome annotation databases

EnsembliENST00000381431; ENSP00000370839; ENSG00000163069 [Q16585-1]
GeneIDi6443
KEGGihsa:6443

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
6443
DisGeNETi6443
EuPathDBiHostDB:ENSG00000163069.12

GeneCards: human genes, protein and diseases

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GeneCardsi
SGCB
HGNCiHGNC:10806, SGCB
HPAiENSG00000163069, Low tissue specificity
MalaCardsiSGCB
MIMi600900, gene
604286, phenotype
neXtProtiNX_Q16585
OpenTargetsiENSG00000163069
Orphaneti119, Beta-sarcoglycan-related limb-girdle muscular dystrophy R4
PharmGKBiPA35717

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiENOG502QUW4, Eukaryota
GeneTreeiENSGT00390000008110
HOGENOMiCLU_066515_1_0_1
InParanoidiQ16585
KOiK12566
OMAiSVQYKIC
PhylomeDBiQ16585
TreeFamiTF313538

Enzyme and pathway databases

PathwayCommonsiQ16585
SIGNORiQ16585

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

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BioGRID-ORCSi
6443, 2 hits in 870 CRISPR screens

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

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ChiTaRSi
SGCB, human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
SGCB

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

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GenomeRNAii
6443
PharosiQ16585, Tbio

Protein Ontology

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PROi
PR:Q16585
RNActiQ16585, protein

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
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Gene expression databases

BgeeiENSG00000163069, Expressed in tendon of biceps brachii and 244 other tissues
ExpressionAtlasiQ16585, baseline and differential
GenevisibleiQ16585, HS

Family and domain databases

InterProiView protein in InterPro
IPR006875, Sarcoglycan
IPR027659, Sgcb
PANTHERiPTHR21142, PTHR21142, 1 hit
PfamiView protein in Pfam
PF04790, Sarcoglycan_1, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
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<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 nameiSGCB_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: Q16585
Secondary accession number(s): B7Z635, O00661
<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: October 7, 2020
This is version 175 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

Direct protein sequencing, Reference proteome

Documents

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