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Protein

Beta-sarcoglycan

Gene

SGCB

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Component of the sarcoglycan complex, a subcomplex of the dystrophin-glycoprotein complex which forms a link between the F-actin cytoskeleton and the extracellular matrix.

GO - Biological processi

Names & Taxonomyi

Protein namesi
Recommended name:
Beta-sarcoglycan
Short name:
Beta-SG
Alternative name(s):
43 kDa dystrophin-associated glycoprotein
Short name:
43DAG
A3b
Gene namesi
Name:SGCB
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 4

Organism-specific databases

EuPathDBiHostDB:ENSG00000163069.12.
HGNCiHGNC:10806. SGCB.

Subcellular locationi

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

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 65CytoplasmicSequence analysisAdd BLAST65
Transmembranei66 – 86Helical; Signal-anchor for type II membrane proteinSequence analysisAdd BLAST21
Topological domaini87 – 318ExtracellularSequence analysisAdd BLAST232

Keywords - Cellular componenti

Cell membrane, Cytoplasm, Cytoskeleton, Membrane

Pathology & Biotechi

Involvement in diseasei

Limb-girdle muscular dystrophy 2E (LGMD2E)3 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.
See also OMIM:604286
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01042291R → C in LGMD2E. 1 PublicationCorresponds to variant dbSNP:rs555514820Ensembl.1
Natural variantiVAR_01039191R → L in LGMD2E. 1 PublicationCorresponds to variant dbSNP:rs104893869Ensembl.1
Natural variantiVAR_01039291R → P in LGMD2E. 1 PublicationCorresponds to variant dbSNP:rs28936384Ensembl.1
Natural variantiVAR_010393100M → K in LGMD2E. 1 PublicationCorresponds to variant dbSNP:rs28936386Ensembl.1
Natural variantiVAR_010394108L → R in LGMD2E. 1 PublicationCorresponds to variant dbSNP:rs104893870Ensembl.1
Natural variantiVAR_010424119I → F in LGMD2E. 1 PublicationCorresponds to variant dbSNP:rs762412447Ensembl.1
Natural variantiVAR_010395151T → R in LGMD2E. 1 PublicationCorresponds to variant dbSNP:rs28936383Ensembl.1
Natural variantiVAR_010426167G → S in LGMD2E. Corresponds to variant dbSNP:rs779516489Ensembl.1

Keywords - Diseasei

Disease mutation, Limb-girdle muscular dystrophy

Organism-specific databases

DisGeNETi6443.
GeneReviewsiSGCB.
MalaCardsiSGCB.
MIMi604286. phenotype.
OpenTargetsiENSG00000163069.
Orphaneti119. Autosomal recessive limb-girdle muscular dystrophy type 2E.
PharmGKBiPA35717.

Polymorphism and mutation databases

BioMutaiSGCB.
DMDMi13431857.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001752421 – 318Beta-sarcoglycanAdd BLAST318

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi158N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi211N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi258N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi288 ↔ 314Sequence analysis
Disulfide bondi290 ↔ 307Sequence analysis

Post-translational modificationi

Disulfide bonds are present.By similarity

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

EPDiQ16585.
PaxDbiQ16585.
PeptideAtlasiQ16585.
PRIDEiQ16585.

PTM databases

iPTMnetiQ16585.
PhosphoSitePlusiQ16585.

Miscellaneous databases

PMAP-CutDBiQ16585.

Expressioni

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

BgeeiENSG00000163069.
CleanExiHS_SGCB.
ExpressionAtlasiQ16585. baseline and differential.
GenevisibleiQ16585. HS.

Organism-specific databases

HPAiHPA011422.
HPA058656.

Interactioni

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

Binary interactionsi

WithEntry#Exp.IntActNotes
OR1D4P478844EBI-5663627,EBI-11988863

Protein-protein interaction databases

BioGridi112341. 15 interactors.
CORUMiQ16585.
IntActiQ16585. 19 interactors.
STRINGi9606.ENSP00000370839.

Structurei

3D structure databases

ProteinModelPortaliQ16585.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi97 – 314Cys-richAdd BLAST218

Sequence similaritiesi

Keywords - Domaini

Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IEAC. Eukaryota.
ENOG4111F15. LUCA.
GeneTreeiENSGT00390000008110.
HOGENOMiHOG000133159.
HOVERGENiHBG004508.
InParanoidiQ16585.
KOiK12566.
OMAiNMGCQTS.
OrthoDBiEOG091G0OE4.
PhylomeDBiQ16585.
TreeFamiTF313538.

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.

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q16585-1) [UniParc]FASTAAdd to basket

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

« Hide

        10         20         30         40         50
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
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.

Note: No experimental confirmation available.
Show »
Length:248
Mass (Da):26,924
Checksum:i8ADEB947A629AC43
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01042111Q → E Probable disease-associated mutation found in patients with a severe myopathy resembling Duchenne muscular dystrophy. 1 PublicationCorresponds to variant dbSNP:rs752492870Ensembl.1
Natural variantiVAR_01042291R → C in LGMD2E. 1 PublicationCorresponds to variant dbSNP:rs555514820Ensembl.1
Natural variantiVAR_01039191R → L in LGMD2E. 1 PublicationCorresponds to variant dbSNP:rs104893869Ensembl.1
Natural variantiVAR_01039291R → P in LGMD2E. 1 PublicationCorresponds to variant dbSNP:rs28936384Ensembl.1
Natural variantiVAR_010393100M → K in LGMD2E. 1 PublicationCorresponds to variant dbSNP:rs28936386Ensembl.1
Natural variantiVAR_010394108L → R in LGMD2E. 1 PublicationCorresponds to variant dbSNP:rs104893870Ensembl.1
Natural variantiVAR_010423114S → F Probable disease-associated mutation found in patients with a severe myopathy resembling Duchenne muscular dystrophy. 1 PublicationCorresponds to variant dbSNP:rs150518260Ensembl.1
Natural variantiVAR_010424119I → F in LGMD2E. 1 PublicationCorresponds to variant dbSNP:rs762412447Ensembl.1
Natural variantiVAR_010425139G → D Probable disease-associated mutation found in patients with a severe myopathy resembling Duchenne muscular dystrophy. 1 Publication1
Natural variantiVAR_010395151T → R in LGMD2E. 1 PublicationCorresponds to variant dbSNP:rs28936383Ensembl.1
Natural variantiVAR_010426167G → S in LGMD2E. Corresponds to variant dbSNP:rs779516489Ensembl.1
Natural variantiVAR_010427182T → A Probable disease-associated mutation found in patients with a severe myopathy resembling Duchenne muscular dystrophy. 1 Publication1
Natural variantiVAR_010428184Y → C Probable disease-associated mutation found in a patient with a myopathy resembling Becker muscular dystrophy. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_05689412 – 81Missing in isoform 2. 1 PublicationAdd BLAST70

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U31116 mRNA. Translation: AAA87034.1.
U29586 mRNA. Translation: AAB41291.1.
U63801
, U63796, U63797, U63798, 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]
UniGeneiHs.438953.

Genome annotation databases

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

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiSGCB_HUMAN
AccessioniPrimary (citable) accession number: Q16585
Secondary accession number(s): B7Z635, O00661
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 27, 2001
Last sequence update: November 1, 1996
Last modified: September 27, 2017
This is version 155 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Direct protein sequencing, Reference proteome

Documents

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