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Q16585

- SGCB_HUMAN

UniProt

Q16585 - SGCB_HUMAN

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Protein
Beta-sarcoglycan
Gene
SGCB
Organism
Homo sapiens (Human)
Status
Reviewed - 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

  1. cardiocyte differentiation Source: Ensembl
  2. muscle organ development Source: ProtInc
Complete GO annotation...

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
ProteomesiUP000005640: Chromosome 4

Organism-specific databases

HGNCiHGNC:10806. SGCB.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 6565Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei66 – 8621Helical; Signal-anchor for type II membrane protein; Reviewed prediction
Add
BLAST
Topological domaini87 – 318232Extracellular Reviewed prediction
Add
BLAST

GO - Cellular componenti

  1. cytoplasm Source: UniProtKB-KW
  2. cytoskeleton Source: UniProtKB-SubCell
  3. dystrophin-associated glycoprotein complex Source: UniProtKB
  4. integral component of plasma membrane Source: ProtInc
  5. sarcoglycan complex Source: ProtInc
  6. sarcolemma Source: UniProtKB-SubCell
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Cytoplasm, Cytoskeleton, Membrane

Pathology & Biotechi

Involvement in diseasei

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.4 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti91 – 911R → C in LGMD2E. 1 Publication
VAR_010422
Natural varianti91 – 911R → L in LGMD2E. 1 Publication
VAR_010391
Natural varianti91 – 911R → P in LGMD2E. 1 Publication
Corresponds to variant rs28936384 [ dbSNP | Ensembl ].
VAR_010392
Natural varianti100 – 1001M → K in LGMD2E. 1 Publication
Corresponds to variant rs28936386 [ dbSNP | Ensembl ].
VAR_010393
Natural varianti108 – 1081L → R in LGMD2E. 1 Publication
VAR_010394
Natural varianti114 – 1141S → F in LGMD2E or DMD-like. 1 Publication
VAR_010423
Natural varianti119 – 1191I → F in LGMD2E. 1 Publication
VAR_010424
Natural varianti151 – 1511T → R in LGMD2E. 1 Publication
Corresponds to variant rs28936383 [ dbSNP | Ensembl ].
VAR_010395
Natural varianti167 – 1671G → S in LGMD2E.
VAR_010426

Keywords - Diseasei

Disease mutation, Limb-girdle muscular dystrophy

Organism-specific databases

MIMi604286. phenotype.
Orphaneti119. Autosomal recessive limb-girdle muscular dystrophy type 2E.
PharmGKBiPA35717.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 318318Beta-sarcoglycan
PRO_0000175242Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi158 – 1581N-linked (GlcNAc...)1 Publication
Glycosylationi211 – 2111N-linked (GlcNAc...)1 Publication
Glycosylationi258 – 2581N-linked (GlcNAc...) Reviewed prediction
Disulfide bondi288 ↔ 314 Reviewed prediction
Disulfide bondi290 ↔ 307 Reviewed prediction

Post-translational modificationi

Disulfide bonds are present By similarity.

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

MaxQBiQ16585.
PaxDbiQ16585.
PRIDEiQ16585.

PTM databases

PhosphoSiteiQ16585.

Miscellaneous databases

PMAP-CutDBQ16585.

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

ArrayExpressiQ16585.
BgeeiQ16585.
CleanExiHS_SGCB.
GenevestigatoriQ16585.

Organism-specific databases

HPAiHPA011422.

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.

Protein-protein interaction databases

BioGridi112341. 2 interactions.
IntActiQ16585. 1 interaction.
STRINGi9606.ENSP00000370839.

Structurei

3D structure databases

ProteinModelPortaliQ16585.

Family & Domainsi

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi97 – 314218Cys-rich
Add
BLAST

Sequence similaritiesi

Keywords - Domaini

Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG84633.
HOGENOMiHOG000133159.
HOVERGENiHBG004508.
InParanoidiQ16585.
KOiK12566.
OMAiNMGCQTS.
OrthoDBiEOG74R1R4.
PhylomeDBiQ16585.
TreeFamiTF313538.

Family and domain databases

InterProiIPR006875. Sarcoglycan.
IPR027659. Sgcb.
[Graphical view]
PANTHERiPTHR21142. PTHR21142. 1 hit.
PfamiPF04790. Sarcoglycan_1. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q16585-1 [UniParc]FASTAAdd to Basket

« Hide

MAAAAAAAAE QQSSNGPVKK SMREKAVERR SVNKEHNSNF KAGYIPIDED    50
RLHKTGLRGR KGNLAICVII LLFILAVINL IITLVIWAVI RIGPNGCDSM 100
EFHESGLLRF KQVSDMGVIH PLYKSTVGGR RNENLVITGN NQPIVFQQGT 150
TKLSVENNKT SITSDIGMQF FDPRTQNILF STDYETHEFH LPSGVKSLNV 200
QKASTERITS NATSDLNIKV DGRAIVRGNE GVFIMGKTIE FHMGGNMELK 250
AENSIILNGS VMVSTTRLPS SSSGDQLGSG DWVRYKLCMC ADGTLFKVQV 300
TSQNMGCQIS DNPCGNTH 318
Length:318
Mass (Da):34,777
Last modified:November 1, 1996 - v1
Checksum:iDAC5E93D1AB6C80C
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti11 – 111Q → E in DMD-like. 1 Publication
VAR_010421
Natural varianti91 – 911R → C in LGMD2E. 1 Publication
VAR_010422
Natural varianti91 – 911R → L in LGMD2E. 1 Publication
VAR_010391
Natural varianti91 – 911R → P in LGMD2E. 1 Publication
Corresponds to variant rs28936384 [ dbSNP | Ensembl ].
VAR_010392
Natural varianti100 – 1001M → K in LGMD2E. 1 Publication
Corresponds to variant rs28936386 [ dbSNP | Ensembl ].
VAR_010393
Natural varianti108 – 1081L → R in LGMD2E. 1 Publication
VAR_010394
Natural varianti114 – 1141S → F in LGMD2E or DMD-like. 1 Publication
VAR_010423
Natural varianti119 – 1191I → F in LGMD2E. 1 Publication
VAR_010424
Natural varianti139 – 1391G → D in DMD-like. 1 Publication
VAR_010425
Natural varianti151 – 1511T → R in LGMD2E. 1 Publication
Corresponds to variant rs28936383 [ dbSNP | Ensembl ].
VAR_010395
Natural varianti167 – 1671G → S in LGMD2E.
VAR_010426
Natural varianti182 – 1821T → A in DMD-like. 1 Publication
VAR_010427
Natural varianti184 – 1841Y → C in DMD-like. 1 Publication
VAR_010428

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.
BC020709 mRNA. Translation: AAH20709.1.
CCDSiCCDS3488.1.
PIRiI39151.
RefSeqiNP_000223.1. NM_000232.4.
UniGeneiHs.438953.

Genome annotation databases

EnsembliENST00000381431; ENSP00000370839; ENSG00000163069.
GeneIDi6443.
KEGGihsa:6443.
UCSCiuc003gzj.2. human.

Polymorphism databases

DMDMi13431857.

Cross-referencesi

Web resourcesi

Leiden Muscular Dystrophy pages

SGCB mutations in LGMD2E

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 .
BC020709 mRNA. Translation: AAH20709.1 .
CCDSi CCDS3488.1.
PIRi I39151.
RefSeqi NP_000223.1. NM_000232.4.
UniGenei Hs.438953.

3D structure databases

ProteinModelPortali Q16585.
ModBasei Search...

Protein-protein interaction databases

BioGridi 112341. 2 interactions.
IntActi Q16585. 1 interaction.
STRINGi 9606.ENSP00000370839.

PTM databases

PhosphoSitei Q16585.

Polymorphism databases

DMDMi 13431857.

Proteomic databases

MaxQBi Q16585.
PaxDbi Q16585.
PRIDEi Q16585.

Protocols and materials databases

DNASUi 6443.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000381431 ; ENSP00000370839 ; ENSG00000163069 .
GeneIDi 6443.
KEGGi hsa:6443.
UCSCi uc003gzj.2. human.

Organism-specific databases

CTDi 6443.
GeneCardsi GC04M052886.
GeneReviewsi SGCB.
HGNCi HGNC:10806. SGCB.
HPAi HPA011422.
MIMi 600900. gene.
604286. phenotype.
neXtProti NX_Q16585.
Orphaneti 119. Autosomal recessive limb-girdle muscular dystrophy type 2E.
PharmGKBi PA35717.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG84633.
HOGENOMi HOG000133159.
HOVERGENi HBG004508.
InParanoidi Q16585.
KOi K12566.
OMAi NMGCQTS.
OrthoDBi EOG74R1R4.
PhylomeDBi Q16585.
TreeFami TF313538.

Miscellaneous databases

ChiTaRSi SGCB. human.
GeneWikii SGCB.
GenomeRNAii 6443.
NextBioi 25039.
PMAP-CutDB Q16585.
PROi Q16585.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q16585.
Bgeei Q16585.
CleanExi HS_SGCB.
Genevestigatori Q16585.

Family and domain databases

InterProi IPR006875. Sarcoglycan.
IPR027659. Sgcb.
[Graphical view ]
PANTHERi PTHR21142. PTHR21142. 1 hit.
Pfami PF04790. Sarcoglycan_1. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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. 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.

Entry informationi

Entry nameiSGCB_HUMAN
AccessioniPrimary (citable) accession number: Q16585
Secondary accession number(s): O00661
Entry historyi
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 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

External Data

Dasty 3

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