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Q92629

- SGCD_HUMAN

UniProt

Q92629 - SGCD_HUMAN

Protein

Delta-sarcoglycan

Gene

SGCD

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 134 (01 Oct 2014)
      Sequence version 2 (04 Nov 2008)
      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. muscle organ development Source: ProtInc

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Delta-sarcoglycan
    Short name:
    Delta-SG
    Alternative name(s):
    35 kDa dystrophin-associated glycoprotein
    Short name:
    35DAG
    Gene namesi
    Name:SGCD
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 5

    Organism-specific databases

    HGNCiHGNC:10807. SGCD.

    Subcellular locationi

    GO - Cellular componenti

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

    Keywords - Cellular componenti

    Cell membrane, Cytoplasm, Cytoskeleton, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Limb-girdle muscular dystrophy 2F (LGMD2F) [MIM:601287]: An autosomal recessive degenerative myopathy initially affecting the proximal limb girdle musculature. Muscle from patients shows a complete loss of delta-sarcoglycan as well as of the others components of the sarcoglycan complex.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti261 – 2611E → K in LGMD2F. 1 Publication
    VAR_010396
    Cardiomyopathy, dilated 1L (CMD1L) [MIM:606685]: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti150 – 1501S → A in CMD1L. 1 Publication
    VAR_013181

    Keywords - Diseasei

    Cardiomyopathy, Disease mutation, Limb-girdle muscular dystrophy

    Organism-specific databases

    MIMi601287. phenotype.
    606685. phenotype.
    Orphaneti219. Autosomal recessive limb-girdle muscular dystrophy type 2F.
    154. Familial isolated dilated cardiomyopathy.
    PharmGKBiPA35718.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 289289Delta-sarcoglycanPRO_0000175245Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi60 – 601N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi108 – 1081N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi263 ↔ 288Sequence Analysis
    Disulfide bondi265 ↔ 281Sequence Analysis
    Glycosylationi284 – 2841N-linked (GlcNAc...)Sequence Analysis

    Post-translational modificationi

    Glycosylated.
    Disulfide bonds are present.By similarity

    Keywords - PTMi

    Disulfide bond, Glycoprotein

    Proteomic databases

    MaxQBiQ92629.
    PaxDbiQ92629.
    PRIDEiQ92629.

    PTM databases

    PhosphoSiteiQ92629.

    Expressioni

    Tissue specificityi

    Most strongly expressed in skeletal and cardiac muscle. Also detected in smooth muscle. Weak expression in brain and lung.

    Gene expression databases

    ArrayExpressiQ92629.
    BgeeiQ92629.
    CleanExiHS_SGCD.
    GenevestigatoriQ92629.

    Organism-specific databases

    HPAiHPA026969.

    Interactioni

    Subunit structurei

    Interacts with FLNC and DAG1. 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

    BioGridi112342. 2 interactions.
    IntActiQ92629. 3 interactions.
    MINTiMINT-119001.
    STRINGi9606.ENSP00000338343.

    Structurei

    3D structure databases

    ProteinModelPortaliQ92629.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 3535CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini57 – 289233ExtracellularSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei36 – 5621Helical; 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.
    InParanoidiQ92629.
    KOiK12563.
    OMAiIRSRPGN.
    OrthoDBiEOG7SN8DC.
    PhylomeDBiQ92629.
    TreeFamiTF313538.

    Family and domain databases

    InterProiIPR006875. Sarcoglycan.
    IPR027661. SGCD.
    [Graphical view]
    PANTHERiPTHR12939:SF6. PTHR12939:SF6. 1 hit.
    PfamiPF04790. Sarcoglycan_1. 1 hit.
    [Graphical view]

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q92629-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MPQEQYTHHR STMPGSVGPQ VYKVGIYGWR KRCLYFFVLL LMILILVNLA    50
    MTIWILKVMN FTIDGMGNLR ITEKGLKLEG DSEFLQPLYA KEIQSRPGNA 100
    LYFKSARNVT VNILNDQTKV LTQLITGPKA VEAYGKKFEV KTVSGKLLFS 150
    ADNNEVVVGA ERLRVLGAEG TVFPKSIETP NVRADPFKEL RLESPTRSLV 200
    MEAPKGVEIN AEAGNMEATC RTELRLESKD GEIKLDAAKI RLPRLPHGSY 250
    TPTGTRQKVF EICVCANGRL FLSQAGAGST CQINTSVCL 289
    Length:289
    Mass (Da):32,071
    Last modified:November 4, 2008 - v2
    Checksum:iEB775E2427D260B7
    GO
    Isoform 2 (identifier: Q92629-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-1: M → MM

    Show »
    Length:290
    Mass (Da):32,203
    Checksum:i905E9A9B75D83682
    GO
    Isoform 3 (identifier: Q92629-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-1: M → MM
         233-255: IKLDAAKIRLPRLPHGSYTPTGT → VRDEKDRSSKSYSFNRPTLPITG
         256-289: Missing.

    Show »
    Length:256
    Mass (Da):28,750
    Checksum:i0C8B9E567462F713
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti96 – 961R → Q.1 Publication
    Corresponds to variant rs1801194 [ dbSNP | Ensembl ].
    VAR_010429
    Natural varianti150 – 1501S → A in CMD1L. 1 Publication
    VAR_013181
    Natural varianti261 – 2611E → K in LGMD2F. 1 Publication
    VAR_010396

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 11M → MM in isoform 2 and isoform 3. 4 PublicationsVSP_039245
    Alternative sequencei233 – 25523IKLDA…TPTGT → VRDEKDRSSKSYSFNRPTLP ITG in isoform 3. 1 PublicationVSP_039246Add
    BLAST
    Alternative sequencei256 – 28934Missing in isoform 3. 1 PublicationVSP_039247Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    X95191 mRNA. Translation: CAA64490.1.
    U58331 mRNA. Translation: AAC50921.1.
    AK292794 mRNA. Translation: BAF85483.1.
    BX537948 mRNA. Translation: CAD97916.1.
    BC020740 mRNA. Translation: AAH20740.1.
    CCDSiCCDS47325.1. [Q92629-2]
    CCDS47326.1. [Q92629-3]
    CCDS47327.1. [Q92629-1]
    RefSeqiNP_000328.2. NM_000337.5. [Q92629-2]
    NP_001121681.1. NM_001128209.1. [Q92629-1]
    NP_758447.1. NM_172244.2. [Q92629-3]
    XP_005266022.1. XM_005265965.2. [Q92629-2]
    XP_005266023.1. XM_005265966.2. [Q92629-2]
    XP_006714974.1. XM_006714911.1. [Q92629-2]
    UniGeneiHs.387207.
    Hs.644733.

    Genome annotation databases

    GeneIDi6444.
    KEGGihsa:6444.
    UCSCiuc003lwa.1. human. [Q92629-3]
    uc003lwc.4. human. [Q92629-2]
    uc003lwd.4. human. [Q92629-1]

    Polymorphism databases

    DMDMi212276471.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Web resourcesi

    Leiden Muscular Dystrophy pages

    SGCD mutations in LGMD2F/CMD1L

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    X95191 mRNA. Translation: CAA64490.1 .
    U58331 mRNA. Translation: AAC50921.1 .
    AK292794 mRNA. Translation: BAF85483.1 .
    BX537948 mRNA. Translation: CAD97916.1 .
    BC020740 mRNA. Translation: AAH20740.1 .
    CCDSi CCDS47325.1. [Q92629-2 ]
    CCDS47326.1. [Q92629-3 ]
    CCDS47327.1. [Q92629-1 ]
    RefSeqi NP_000328.2. NM_000337.5. [Q92629-2 ]
    NP_001121681.1. NM_001128209.1. [Q92629-1 ]
    NP_758447.1. NM_172244.2. [Q92629-3 ]
    XP_005266022.1. XM_005265965.2. [Q92629-2 ]
    XP_005266023.1. XM_005265966.2. [Q92629-2 ]
    XP_006714974.1. XM_006714911.1. [Q92629-2 ]
    UniGenei Hs.387207.
    Hs.644733.

    3D structure databases

    ProteinModelPortali Q92629.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 112342. 2 interactions.
    IntActi Q92629. 3 interactions.
    MINTi MINT-119001.
    STRINGi 9606.ENSP00000338343.

    PTM databases

    PhosphoSitei Q92629.

    Polymorphism databases

    DMDMi 212276471.

    Proteomic databases

    MaxQBi Q92629.
    PaxDbi Q92629.
    PRIDEi Q92629.

    Protocols and materials databases

    DNASUi 6444.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    GeneIDi 6444.
    KEGGi hsa:6444.
    UCSCi uc003lwa.1. human. [Q92629-3 ]
    uc003lwc.4. human. [Q92629-2 ]
    uc003lwd.4. human. [Q92629-1 ]

    Organism-specific databases

    CTDi 6444.
    GeneCardsi GC05P155297.
    GeneReviewsi SGCD.
    HGNCi HGNC:10807. SGCD.
    HPAi HPA026969.
    MIMi 601287. phenotype.
    601411. gene.
    606685. phenotype.
    neXtProti NX_Q92629.
    Orphaneti 219. Autosomal recessive limb-girdle muscular dystrophy type 2F.
    154. Familial isolated dilated cardiomyopathy.
    PharmGKBi PA35718.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG318936.
    HOGENOMi HOG000007853.
    HOVERGENi HBG008669.
    InParanoidi Q92629.
    KOi K12563.
    OMAi IRSRPGN.
    OrthoDBi EOG7SN8DC.
    PhylomeDBi Q92629.
    TreeFami TF313538.

    Miscellaneous databases

    GeneWikii Delta-sarcoglycan.
    SGCD.
    GenomeRNAii 6444.
    NextBioi 25043.
    PROi Q92629.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q92629.
    Bgeei Q92629.
    CleanExi HS_SGCD.
    Genevestigatori Q92629.

    Family and domain databases

    InterProi IPR006875. Sarcoglycan.
    IPR027661. SGCD.
    [Graphical view ]
    PANTHERi PTHR12939:SF6. PTHR12939:SF6. 1 hit.
    Pfami PF04790. Sarcoglycan_1. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), VARIANT GLN-96.
      Tissue: Skeletal muscle.
    2. "Characterization of delta-sarcoglycan, a novel component of the oligomeric sarcoglycan complex involved in limb-girdle muscular dystrophy."
      Jung D., Duclos F., Apostol B., Straub V., Lee J.C., Allamand V., Venzke D.P., Sunada Y., Moomaw C.R., Leveille C.J., Slaughter C.A., Crawford T.O., McPherson J.D., Campbell K.P.
      J. Biol. Chem. 271:32321-32329(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3).
      Tissue: Placenta.
    3. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
      Tissue: Trachea.
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
      Tissue: Retina.
    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] (ISOFORM 2).
      Tissue: Lung.
    6. "A first missense mutation in the delta sarcoglycan gene associated with a severe phenotype and frequency of limb-girdle muscular dystrophy type 2F (LGMD2F) in Brazilian sarcoglycanopathies."
      Moreira E.S., Vainzof M., Marie S.K., Nigro V., Zatz M., Passos-Bueno M.R.
      J. Med. Genet. 35:951-953(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT LGMD2F LYS-261.
    7. "Mutations in the human delta-sarcoglycan gene in familial and sporadic dilated cardiomyopathy."
      Tsubata S., Bowles K.R., Vatta M., Zintz C., Titus J., Muhonen L., Bowles N.E., Towbin J.A.
      J. Clin. Invest. 106:655-662(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT CMD1L ALA-150.
    8. Cited for: INTERACTION WITH FLNC.

    Entry informationi

    Entry nameiSGCD_HUMAN
    AccessioniPrimary (citable) accession number: Q92629
    Secondary accession number(s): A8K9S9, Q53XA5, Q99644
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: April 27, 2001
    Last sequence update: November 4, 2008
    Last modified: October 1, 2014
    This is version 134 of the entry and version 2 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 5
      Human chromosome 5: 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