Q16585 (SGCB_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Beta-sarcoglycan
Short name=Beta-SG

Alternative name(s):
43 kDa dystrophin-associated glycoprotein
Short name=43DAG
A3b

Gene names

Name:

SGCB

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	318 AA.
Sequence status	Complete.
Protein existence	Evidence 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 membrane › sarcolemma; Single-pass type II membrane protein By similarity. Cytoplasm › cytoskeleton 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.

Ontologies

Keywords
Cellular component	Cell membrane Cytoplasm Cytoskeleton Membrane
Disease	Disease mutation Limb-girdle muscular dystrophy
Domain	Signal-anchor Transmembrane Transmembrane helix
PTM	Disulfide bond Glycoprotein
Technical term	Complete proteome Direct protein sequencing Reference proteome
Gene Ontology (GO)
Biological_process	cardiocyte differentiation Inferred from electronic annotation. Source: Compara cytoskeleton organization Inferred from electronic annotation. Source: InterPro muscle organ development Traceable author statement Ref.2Ref.3. Source: ProtInc
Cellular_component	cytoplasm Inferred from electronic annotation. Source: UniProtKB-KW cytoskeleton Inferred from electronic annotation. Source: UniProtKB-SubCell integral to plasma membrane Traceable author statement Ref.2. Source: ProtInc sarcoglycan complex Traceable author statement Ref.2. Source: ProtInc sarcolemma Inferred from electronic annotation. Source: UniProtKB-SubCell
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 318	318	Beta-sarcoglycan		PRO_0000175242
Regions
	Topological domain	1 – 65	65	Cytoplasmic Potential
	Transmembrane	66 – 86	21	Helical; Signal-anchor for type II membrane protein; Potential
	Topological domain	87 – 318	232	Extracellular Potential
	Compositional bias	97 – 314	218	Cys-rich
Amino acid modifications
	Glycosylation	158	1	N-linked (GlcNAc...) Ref.6
	Glycosylation	211	1	N-linked (GlcNAc...) Ref.6
	Glycosylation	258	1	N-linked (GlcNAc...) Potential
	Disulfide bond	288 ↔ 314		Potential
	Disulfide bond	290 ↔ 307		Potential
Natural variations
	Natural variant	11	1	Q → E in DMD-like. Ref.8		VAR_010421
	Natural variant	91	1	R → C in LGMD2E. Ref.10		VAR_010422
	Natural variant	91	1	R → L in LGMD2E. Ref.7		VAR_010391
	Natural variant	91	1	R → P in LGMD2E. Ref.3 Corresponds to variant rs28936384 [ dbSNP | Ensembl ].		VAR_010392
	Natural variant	100	1	M → K in LGMD2E. Ref.3 Corresponds to variant rs28936386 [ dbSNP | Ensembl ].		VAR_010393
	Natural variant	108	1	L → R in LGMD2E. Ref.3		VAR_010394
	Natural variant	114	1	S → F in LGMD2E or DMD-like. Ref.8		VAR_010423
	Natural variant	119	1	I → F in LGMD2E. Ref.10		VAR_010424
	Natural variant	139	1	G → D in DMD-like. Ref.8		VAR_010425
	Natural variant	151	1	T → R in LGMD2E. Ref.10 Corresponds to variant rs28936383 [ dbSNP | Ensembl ].		VAR_010395
	Natural variant	167	1	G → S in LGMD2E.		VAR_010426
	Natural variant	182	1	T → A in DMD-like. Ref.8		VAR_010427
	Natural variant	184	1	Y → C in DMD-like. Ref.9		VAR_010428

Sequences

	Sequence		Length	Mass (Da)
	Q16585 [UniParc]. Last modified November 1, 1996. Version 1. Checksum: DAC5E93D1AB6C80C	FASTA	318	34,777
	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

References

	« Hide 'large scale' referencesShow '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, MASS SPECTROMETRY. 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

GeneReviews

Cross-references

Sequence databases
EMBL GenBank DDBJ	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. BC020709 mRNA. Translation: AAH20709.1.
IPI	IPI00002970.
PIR	I39151.
RefSeq	NP_000223.1. NM_000232.4.
UniGene	Hs.438953.
3D structure databases
ProteinModelPortal	Q16585.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q16585. 1 interaction.
STRING	9606.ENSP00000370839.
PTM databases
PhosphoSite	Q16585.
Polymorphism databases
DMDM	13431857.
Proteomic databases
PaxDb	Q16585.
PRIDE	Q16585.
Protocols and materials databases
DNASU	6443.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000381431; ENSP00000370839; ENSG00000163069.
GeneID	6443.
KEGG	hsa:6443.
UCSC	uc003gzj.2. human.
Organism-specific databases
CTD	6443.
GeneCards	GC04M052886.
HGNC	HGNC:10806. SGCB.
HPA	HPA011422.
MIM	600900. gene. 604286. phenotype.
neXtProt	NX_Q16585.
Orphanet	119. Autosomal recessive limb-girdle muscular dystrophy type 2E.
PharmGKB	PA35717.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG84633.
HOGENOM	HOG000133159.
HOVERGEN	HBG004508.
InParanoid	Q16585.
KO	K12566.
OMA	NMGCQTS.
OrthoDB	EOG4GTKDD.
PhylomeDB	Q16585.
Gene expression databases
ArrayExpress	Q16585.
Bgee	Q16585.
CleanEx	HS_SGCB.
Genevestigator	Q16585.
GermOnline	ENSG00000163069. Homo sapiens.
Family and domain databases
InterPro	IPR006875. Sarcoglycan. [Graphical view]
Pfam	PF04790. Sarcoglycan_1. 1 hit. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	SGCB. human.
GenomeRNAi	6443.
NextBio	25039.
PMAP-CutDB	Q16585.
SOURCE	Search...

Entry information

Entry name

SGCB_HUMAN

Accession

Primary (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:	May 1, 2013
This is version 115 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.