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Q13326

- SGCG_HUMAN

UniProt

Q13326 - SGCG_HUMAN

Protein

Gamma-sarcoglycan

Gene

SGCG

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 129 (01 Oct 2014)
      Sequence version 4 (30 Nov 2010)
      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 - Molecular functioni

    1. protein binding Source: IntAct

    GO - Biological processi

    1. muscle organ development Source: ProtInc

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Gamma-sarcoglycan
    Short name:
    Gamma-SG
    Alternative name(s):
    35 kDa dystrophin-associated glycoprotein
    Short name:
    35DAG
    Gene namesi
    Name:SGCG
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 13

    Organism-specific databases

    HGNCiHGNC:10809. SGCG.

    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. integral component of membrane Source: UniProtKB-KW
    4. 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 2C (LGMD2C) [MIM:253700]: An autosomal recessive degenerative myopathy characterized by rapidly progressive muscle wasting from early childhood with loss of independent ambulation around age 12 years, dystrophic pattern on muscle biopsy, absence of gamma-sarcoglycan and normal dystrophin immunostaining.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti69 – 691G → D in LGMD2C.
    VAR_010430
    Natural varianti69 – 691G → R in LGMD2C. 1 Publication
    VAR_012202
    Natural varianti283 – 2831C → Y in LGMD2C. 1 Publication
    VAR_010398

    Keywords - Diseasei

    Disease mutation, Limb-girdle muscular dystrophy

    Organism-specific databases

    MIMi253700. phenotype.
    Orphaneti353. Autosomal recessive limb-girdle muscular dystrophy type 2C.
    PharmGKBiPA35720.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 291291Gamma-sarcoglycanPRO_0000175248Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi110 – 1101N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi265 ↔ 290Sequence Analysis
    Disulfide bondi267 ↔ 283Sequence Analysis

    Keywords - PTMi

    Disulfide bond, Glycoprotein

    Proteomic databases

    PaxDbiQ13326.
    PRIDEiQ13326.

    Expressioni

    Tissue specificityi

    Expressed in skeletal and heart muscle.

    Gene expression databases

    BgeeiQ13326.
    CleanExiHS_SGCG.
    GenevestigatoriQ13326.

    Organism-specific databases

    HPAiHPA007476.
    HPA011922.

    Interactioni

    Subunit structurei

    Interacts with the syntrophin SNTA1. 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. Interacts with FLNC.By similarity1 Publication

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    ACO1P213992EBI-5357343,EBI-2847111
    DNAJB6O751902EBI-5357343,EBI-1053164
    DYSFO759233EBI-5357343,EBI-2799016

    Protein-protein interaction databases

    BioGridi112343. 4 interactions.
    IntActiQ13326. 16 interactions.
    MINTiMINT-118958.
    STRINGi9606.ENSP00000218867.

    Structurei

    3D structure databases

    ProteinModelPortaliQ13326.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 3737CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini59 – 291233ExtracellularSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei38 – 5821Helical; Signal-anchor for type II membrane proteinSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Keywords - Domaini

    Signal-anchor, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG318936.
    HOGENOMiHOG000007853.
    HOVERGENiHBG008669.
    InParanoidiQ13326.
    KOiK12564.
    OMAiVNARNSE.
    OrthoDBiEOG7SN8DC.
    PhylomeDBiQ13326.
    TreeFamiTF313538.

    Family and domain databases

    InterProiIPR006875. Sarcoglycan.
    IPR027660. SGCG.
    [Graphical view]
    PANTHERiPTHR12939:SF4. PTHR12939:SF4. 1 hit.
    PfamiPF04790. Sarcoglycan_1. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Q13326-1 [UniParc]FASTAAdd to Basket

    « Hide

    MVREQYTTAT EGICIERPEN QYVYKIGIYG WRKRCLYLFV LLLLIILVVN    50
    LALTIWILKV MWFSPAGMGH LCVTKDGLRL EGESEFLFPL YAKEIHSRVD 100
    SSLLLQSTQN VTVNARNSEG EVTGRLKVGP KMVEVQNQQF QINSNDGKPL 150
    FTVDEKEVVV GTDKLRVTGP EGALFEHSVE TPLVRADPFQ DLRLESPTRS 200
    LSMDAPRGVH IQAHAGKIEA LSQMDILFHS SDGMLVLDAE TVCLPKLVQG 250
    TWGPSGSSQS LYEICVCPDG KLYLSVAGVS TTCQEHNHIC L 291
    Length:291
    Mass (Da):32,379
    Last modified:November 30, 2010 - v4
    Checksum:i6CF219706ABFB77B
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti69 – 691G → D in LGMD2C.
    VAR_010430
    Natural varianti69 – 691G → R in LGMD2C. 1 Publication
    VAR_012202
    Natural varianti116 – 1161R → H.1 Publication
    Corresponds to variant rs17314986 [ dbSNP | Ensembl ].
    VAR_010397
    Natural varianti283 – 2831C → Y in LGMD2C. 1 Publication
    VAR_010398
    Natural varianti287 – 2871N → S.3 Publications
    Corresponds to variant rs1800354 [ dbSNP | Ensembl ].
    VAR_010399

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U34976 mRNA. Translation: AAC50269.1.
    U63395
    , U63389, U63390, U63391, U63392, U63393, U63394 Genomic DNA. Translation: AAD13475.1.
    AL157766, AL160256, AL356287 Genomic DNA. Translation: CAI13924.1.
    AL356287, AL157766, AL160256 Genomic DNA. Translation: CAI16053.1.
    AL160256, AL157766, AL356287 Genomic DNA. Translation: CAI16544.1.
    BC074777 mRNA. Translation: AAH74777.1.
    BC074778 mRNA. Translation: AAH74778.1.
    BC109321 mRNA. Translation: AAI09322.1.
    CCDSiCCDS9299.1.
    RefSeqiNP_000222.1. NM_000231.2.
    XP_005266562.1. XM_005266505.1.
    UniGeneiHs.37167.

    Genome annotation databases

    EnsembliENST00000218867; ENSP00000218867; ENSG00000102683.
    GeneIDi6445.
    KEGGihsa:6445.
    UCSCiuc001uom.2. human.

    Polymorphism databases

    DMDMi313104319.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Web resourcesi

    Leiden Muscular Dystrophy pages

    SGCG mutations in LGMD2C

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U34976 mRNA. Translation: AAC50269.1 .
    U63395
    , U63389 , U63390 , U63391 , U63392 , U63393 , U63394 Genomic DNA. Translation: AAD13475.1 .
    AL157766 , AL160256 , AL356287 Genomic DNA. Translation: CAI13924.1 .
    AL356287 , AL157766 , AL160256 Genomic DNA. Translation: CAI16053.1 .
    AL160256 , AL157766 , AL356287 Genomic DNA. Translation: CAI16544.1 .
    BC074777 mRNA. Translation: AAH74777.1 .
    BC074778 mRNA. Translation: AAH74778.1 .
    BC109321 mRNA. Translation: AAI09322.1 .
    CCDSi CCDS9299.1.
    RefSeqi NP_000222.1. NM_000231.2.
    XP_005266562.1. XM_005266505.1.
    UniGenei Hs.37167.

    3D structure databases

    ProteinModelPortali Q13326.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 112343. 4 interactions.
    IntActi Q13326. 16 interactions.
    MINTi MINT-118958.
    STRINGi 9606.ENSP00000218867.

    Polymorphism databases

    DMDMi 313104319.

    Proteomic databases

    PaxDbi Q13326.
    PRIDEi Q13326.

    Protocols and materials databases

    DNASUi 6445.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000218867 ; ENSP00000218867 ; ENSG00000102683 .
    GeneIDi 6445.
    KEGGi hsa:6445.
    UCSCi uc001uom.2. human.

    Organism-specific databases

    CTDi 6445.
    GeneCardsi GC13P023755.
    HGNCi HGNC:10809. SGCG.
    HPAi HPA007476.
    HPA011922.
    MIMi 253700. phenotype.
    608896. gene.
    neXtProti NX_Q13326.
    Orphaneti 353. Autosomal recessive limb-girdle muscular dystrophy type 2C.
    PharmGKBi PA35720.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG318936.
    HOGENOMi HOG000007853.
    HOVERGENi HBG008669.
    InParanoidi Q13326.
    KOi K12564.
    OMAi VNARNSE.
    OrthoDBi EOG7SN8DC.
    PhylomeDBi Q13326.
    TreeFami TF313538.

    Miscellaneous databases

    GeneWikii SGCG.
    GenomeRNAii 6445.
    NextBioi 25049.
    PROi Q13326.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q13326.
    CleanExi HS_SGCG.
    Genevestigatori Q13326.

    Family and domain databases

    InterProi IPR006875. Sarcoglycan.
    IPR027660. SGCG.
    [Graphical view ]
    PANTHERi PTHR12939:SF4. PTHR12939:SF4. 1 hit.
    Pfami PF04790. Sarcoglycan_1. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. Cited for: NUCLEOTIDE SEQUENCE [MRNA], DISEASE, VARIANT SER-287.
    2. "Mild and severe muscular dystrophy caused by a single gamma-sarcoglycan mutation."
      McNally E.M., Passos-Bueno M.R., Boennemann C.G., Vainzof M., de Sa Moreira E., Lidov H.G.W., Othmane K.B., Denton P.H., Vance J.M., Zatz M., Kunkel L.M.
      Am. J. Hum. Genet. 59:1040-1047(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], DISEASE, VARIANTS HIS-116 AND SER-287.
    3. "The DNA sequence and analysis of human chromosome 13."
      Dunham A., Matthews L.H., Burton J., Ashurst J.L., Howe K.L., Ashcroft K.J., Beare D.M., Burford D.C., Hunt S.E., Griffiths-Jones S., Jones M.C., Keenan S.J., Oliver K., Scott C.E., Ainscough R., Almeida J.P., Ambrose K.D., Andrews D.T.
      , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Bannerjee R., Barlow K.F., Bates K., Beasley H., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burrill W., Carder C., Carter N.P., Chapman J.C., Clamp M.E., Clark S.Y., Clarke G., Clee C.M., Clegg S.C., Cobley V., Collins J.E., Corby N., Coville G.J., Deloukas P., Dhami P., Dunham I., Dunn M., Earthrowl M.E., Ellington A.G., Faulkner L., Frankish A.G., Frankland J., French L., Garner P., Garnett J., Gilbert J.G.R., Gilson C.J., Ghori J., Grafham D.V., Gribble S.M., Griffiths C., Hall R.E., Hammond S., Harley J.L., Hart E.A., Heath P.D., Howden P.J., Huckle E.J., Hunt P.J., Hunt A.R., Johnson C., Johnson D., Kay M., Kimberley A.M., King A., Laird G.K., Langford C.J., Lawlor S., Leongamornlert D.A., Lloyd D.M., Lloyd C., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., McLaren S.J., McMurray A., Milne S., Moore M.J.F., Nickerson T., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K.M., Rice C.M., Searle S., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Steward C.A., Sycamore N., Tester J., Thomas D.W., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Wilming L., Wray P.W., Wright M.W., Young L., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Beck S., Bentley D.R., Rogers J., Ross M.T.
      Nature 428:522-528(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. "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], VARIANT SER-287.
    5. Cited for: INTERACTION WITH FLNC.
    6. Cited for: VARIANT LGMD2C TYR-283.
    7. "Severe gamma-sarcoglycanopathy caused by a novel missense mutation and a large deletion."
      Nowak K.J., Walsh P., Jacob R.L., Johnsen R.D., Peverall J., McNally E.M., Wilton S.D., Kakulas B.A., Laing N.G.
      Neuromuscul. Disord. 10:100-107(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT LGMD2C ARG-69.

    Entry informationi

    Entry nameiSGCG_HUMAN
    AccessioniPrimary (citable) accession number: Q13326
    Secondary accession number(s): Q32M32, Q5T9J6
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: April 27, 2001
    Last sequence update: November 30, 2010
    Last modified: October 1, 2014
    This is version 129 of the entry and version 4 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, Reference proteome

    Documents

    1. Human chromosome 13
      Human chromosome 13: 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