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Q16585

- SGCB_HUMAN

UniProt

Q16585 - SGCB_HUMAN

Protein

Beta-sarcoglycan

Gene

SGCB

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 126 (01 Oct 2014)
      Sequence version 1 (01 Nov 1996)
      Previous versions | rss
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    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

    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

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

    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

    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.3 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    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-sarcoglycanPRO_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...)Sequence Analysis
    Disulfide bondi288 ↔ 314Sequence Analysis
    Disulfide bondi290 ↔ 307Sequence Analysis

    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.By similarity

    Protein-protein interaction databases

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

    Structurei

    3D structure databases

    ProteinModelPortaliQ16585.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 6565CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini87 – 318232ExtracellularSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei66 – 8621Helical; Signal-anchor for type II membrane proteinSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi97 – 314218Cys-richAdd
    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

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    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...
    MobiDBi 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

    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: October 1, 2014
    This is version 126 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