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Q16585 (SGCB_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 125. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Beta-sarcoglycan

Short name=Beta-SG
Alternative name(s):
43 kDa dystrophin-associated glycoprotein
Short name=43DAG
A3b
Gene names
Name:SGCB
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length318 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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.

Subunit structure

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.

Subcellular location

Cell membranesarcolemma; Single-pass type II membrane protein By similarity. Cytoplasmcytoskeleton By similarity.

Tissue specificity

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.

Post-translational modification

Disulfide bonds are present By similarity.

Involvement in disease

Limb-girdle muscular dystrophy 2E (LGMD2E) [MIM:604286]: An autosomal recessive degenerative myopathy characterized by pelvic and shoulder muscle wasting, onset usually in childhood and variable progression rate.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.2 Ref.3 Ref.7 Ref.10

Sequence similarities

Belongs to the sarcoglycan beta/delta/gamma/zeta family.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 318318Beta-sarcoglycan
PRO_0000175242

Regions

Topological domain1 – 6565Cytoplasmic Potential
Transmembrane66 – 8621Helical; Signal-anchor for type II membrane protein; Potential
Topological domain87 – 318232Extracellular Potential
Compositional bias97 – 314218Cys-rich

Amino acid modifications

Glycosylation1581N-linked (GlcNAc...) Ref.6
Glycosylation2111N-linked (GlcNAc...) Ref.6
Glycosylation2581N-linked (GlcNAc...) Potential
Disulfide bond288 ↔ 314 Potential
Disulfide bond290 ↔ 307 Potential

Natural variations

Natural variant111Q → E in DMD-like. Ref.8
VAR_010421
Natural variant911R → C in LGMD2E. Ref.10
VAR_010422
Natural variant911R → L in LGMD2E. Ref.7
VAR_010391
Natural variant911R → P in LGMD2E. Ref.3
Corresponds to variant rs28936384 [ dbSNP | Ensembl ].
VAR_010392
Natural variant1001M → K in LGMD2E. Ref.3
Corresponds to variant rs28936386 [ dbSNP | Ensembl ].
VAR_010393
Natural variant1081L → R in LGMD2E. Ref.3
VAR_010394
Natural variant1141S → F in LGMD2E or DMD-like. Ref.8
VAR_010423
Natural variant1191I → F in LGMD2E. Ref.10
VAR_010424
Natural variant1391G → D in DMD-like. Ref.8
VAR_010425
Natural variant1511T → R in LGMD2E. Ref.10
Corresponds to variant rs28936383 [ dbSNP | Ensembl ].
VAR_010395
Natural variant1671G → S in LGMD2E.
VAR_010426
Natural variant1821T → A in DMD-like. Ref.8
VAR_010427
Natural variant1841Y → C in DMD-like. Ref.9
VAR_010428

Sequences

Sequence LengthMass (Da)Tools
Q16585 [UniParc].

Last modified November 1, 1996. Version 1.
Checksum: DAC5E93D1AB6C80C

FASTA31834,777
        10         20         30         40         50         60 
MAAAAAAAAE QQSSNGPVKK SMREKAVERR SVNKEHNSNF KAGYIPIDED RLHKTGLRGR 

        70         80         90        100        110        120 
KGNLAICVII LLFILAVINL IITLVIWAVI RIGPNGCDSM EFHESGLLRF KQVSDMGVIH 

       130        140        150        160        170        180 
PLYKSTVGGR RNENLVITGN NQPIVFQQGT TKLSVENNKT SITSDIGMQF FDPRTQNILF 

       190        200        210        220        230        240 
STDYETHEFH LPSGVKSLNV QKASTERITS NATSDLNIKV DGRAIVRGNE GVFIMGKTIE 

       250        260        270        280        290        300 
FHMGGNMELK AENSIILNGS VMVSTTRLPS SSSGDQLGSG DWVRYKLCMC ADGTLFKVQV 

       310 
TSQNMGCQIS DNPCGNTH 

« Hide

References

« Hide 'large scale' references
[1]"Beta-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex."
Boennemann C.G., Modi R., Noguchi S., Mizuno Y., Yoshida M., Gussoni E., McNally E.M., Duggan D.J., Angelini C., Hoffman E.P., Ozawa E., Kunkel L.M.
Nat. Genet. 11:266-273(1995) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA].
Tissue: Muscle.
[2]"Beta-sarcoglycan: characterization and role in limb-girdle muscular dystrophy linked to 4q12."
Lim L.E., Duclos F., Broux O., Bourg N., Sunada Y., Allamand V., Meyer J., Richard I., Moomaw C., Slaughter C., Tome F.M.S., Fardeau M., Jackson C.E., Beckmann J.S., Campbell K.P.
Nat. Genet. 11:257-265(1995) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA], PROTEIN SEQUENCE OF 42-54; 112-173; 175-192 AND 228-253, DISEASE.
Tissue: Skeletal muscle.
[3]"Genomic screening for beta-sarcoglycan gene mutations: missense mutations may cause severe limb-girdle muscular dystrophy type 2E (LGMD 2E)."
Bonnemann C.G., Passos-Bueno M.R., McNally E.M., Vainzof M., de Sa Moreira E., Marie S.K., Pavanello R.C., Noguchi S., Ozawa E., Zatz M., Kunkel L.M.
Hum. Mol. Genet. 5:1953-1961(1996) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA], VARIANTS LGMD2E PRO-91; LYS-100 AND ARG-108.
[4]Bourg N.
Submitted (DEC-1996) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[5]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Placenta.
[6]"Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry."
Chen R., Jiang X., Sun D., Han G., Wang F., Ye M., Wang L., Zou H.
J. Proteome Res. 8:651-661(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-158 AND ASN-211.
Tissue: Liver.
[7]"LGMD 2E in Tunisia is caused by a homozygous missense mutation in beta-sarcoglycan exon 3."
Bonnemann C.G., Wong J., Ben-Hamida C., Ben-Hamida M., Hentati F., Kunkel L.M.
Neuromuscul. Disord. 8:193-197(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT LGMD2E LEU-91.
[8]"Mutations in the sarcoglycan genes in patients with myopathy."
Duggan D.J., Gorospe J.R., Fanin M., Hoffman E.P., Angelini C.
N. Engl. J. Med. 336:618-624(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS DMD-LIKE GLU-11; PHE-114; ASP-139 AND ALA-182.
[9]"Novel mutation (Y184C) in exon 4 of the beta-sarcoglycan gene identified in a Portuguese patient."
dos Santos M.R., Jorge P., Ribeiro E.M., Pires M.M., Guimaraes A.
Hum. Mutat. 12:214-215(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT DMD-LIKE CYS-184.
[10]"Beta-sarcoglycan: genomic analysis and identification of a novel missense mutation in the LGMD2E Amish isolate."
Duclos F., Broux O., Bourg N., Straub V., Feldman G.L., Sunada Y., Lim L.E., Piccolo F., Cutshall S., Gary F., Quetier F., Kaplan J.C., Jackson C.E., Beckmann J.S., Campbell K.P.
Neuromuscul. Disord. 8:30-38(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS LGMD2E CYS-91; PHE-119 AND ARG-151.
+Additional computationally mapped references.

Web resources

Leiden Muscular Dystrophy pages

SGCB mutations in LGMD2E

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
U31116 mRNA. Translation: AAA87034.1.
U29586 mRNA. Translation: AAB41291.1.
U63801 expand/collapse EMBL AC list , U63796, U63797, U63798, U63800 Genomic DNA. Translation: AAB46956.1.
Y09781 Genomic DNA. Translation: CAA70920.1.
BC020709 mRNA. Translation: AAH20709.1.
CCDSCCDS3488.1.
PIRI39151.
RefSeqNP_000223.1. NM_000232.4.
UniGeneHs.438953.

3D structure databases

ProteinModelPortalQ16585.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid112341. 2 interactions.
IntActQ16585. 1 interaction.
STRING9606.ENSP00000370839.

PTM databases

PhosphoSiteQ16585.

Polymorphism databases

DMDM13431857.

Proteomic databases

MaxQBQ16585.
PaxDbQ16585.
PRIDEQ16585.

Protocols and materials databases

DNASU6443.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000381431; ENSP00000370839; ENSG00000163069.
GeneID6443.
KEGGhsa:6443.
UCSCuc003gzj.2. human.

Organism-specific databases

CTD6443.
GeneCardsGC04M052886.
GeneReviewsSGCB.
HGNCHGNC:10806. SGCB.
HPAHPA011422.
MIM600900. gene.
604286. phenotype.
neXtProtNX_Q16585.
Orphanet119. Autosomal recessive limb-girdle muscular dystrophy type 2E.
PharmGKBPA35717.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG84633.
HOGENOMHOG000133159.
HOVERGENHBG004508.
InParanoidQ16585.
KOK12566.
OMANMGCQTS.
OrthoDBEOG74R1R4.
PhylomeDBQ16585.
TreeFamTF313538.

Gene expression databases

ArrayExpressQ16585.
BgeeQ16585.
CleanExHS_SGCB.
GenevestigatorQ16585.

Family and domain databases

InterProIPR006875. Sarcoglycan.
IPR027659. Sgcb.
[Graphical view]
PANTHERPTHR21142. PTHR21142. 1 hit.
PfamPF04790. Sarcoglycan_1. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSSGCB. human.
GeneWikiSGCB.
GenomeRNAi6443.
NextBio25039.
PMAP-CutDBQ16585.
PROQ16585.
SOURCESearch...

Entry information

Entry nameSGCB_HUMAN
AccessionPrimary (citable) accession number: Q16585
Secondary accession number(s): O00661
Entry history
Integrated into UniProtKB/Swiss-Prot: April 27, 2001
Last sequence update: November 1, 1996
Last modified: July 9, 2014
This is version 125 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 4

Human chromosome 4: entries, gene names and cross-references to MIM