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O70258

- SGCE_MOUSE

UniProt

O70258 - SGCE_MOUSE

Protein

Epsilon-sarcoglycan

Gene

Sgce

Organism
Mus musculus (Mouse)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 107 (01 Oct 2014)
      Sequence version 2 (07 Jul 2009)
      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. calcium ion binding Source: InterPro
    2. protein binding Source: UniProtKB

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Epsilon-sarcoglycan
    Short name:
    Epsilon-SG
    Gene namesi
    Name:Sgce
    OrganismiMus musculus (Mouse)
    Taxonomic identifieri10090 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
    ProteomesiUP000000589: Chromosome 6

    Organism-specific databases

    MGIiMGI:1329042. Sgce.

    Subcellular locationi

    Cell membranesarcolemma 1 Publication; Single-pass membrane protein 1 Publication. Golgi apparatus 1 Publication. Cell projectiondendrite 1 Publication. Cytoplasmcytoskeleton By similarity

    GO - Cellular componenti

    1. cytoskeleton Source: UniProtKB-SubCell
    2. dendrite Source: UniProtKB-SubCell
    3. dendrite membrane Source: UniProtKB
    4. Golgi apparatus Source: UniProtKB
    5. integral component of plasma membrane Source: MGI
    6. plasma membrane Source: UniProtKB
    7. sarcoglycan complex Source: InterPro
    8. sarcolemma Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Cell membrane, Cell projection, Cytoplasm, Cytoskeleton, Golgi apparatus, Membrane

    Pathology & Biotechi

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi60 – 601H → P or R: Misfolded, leading to the interaction with TOR1A, ubiquitination and a decrease of the half-life. Impairs intracellular transport. No effect on glycosylation. 1 Publication
    Mutagenesisi196 – 1961L → R: Misfolded, leading to the interaction with TOR1A, ubiquitination and a decrease of the half-life. Impairs intracellular transport. No effect on glycosylation. 1 Publication

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 437437Epsilon-sarcoglycanPRO_0000031678Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi200 – 2001N-linked (GlcNAc...)Sequence Analysis

    Post-translational modificationi

    N-glycosylated.1 Publication
    Ubiquitinated, leading to its degradation by the proteasome.1 Publication

    Keywords - PTMi

    Glycoprotein, Ubl conjugation

    Proteomic databases

    PaxDbiO70258.
    PRIDEiO70258.

    PTM databases

    PhosphoSiteiO70258.

    Expressioni

    Tissue specificityi

    Identified in all tissues tested. Expression highest in lung and placenta, moderate in brain, heart and skeletal muscle, low in kidney and liver. Also detected in embryo.

    Gene expression databases

    ArrayExpressiO70258.
    BgeeiO70258.
    CleanExiMM_SGCE.
    GenevestigatoriO70258.

    Interactioni

    Protein-protein interaction databases

    BioGridi203196. 2 interactions.

    Structurei

    3D structure databases

    ProteinModelPortaliO70258.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 317317ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini339 – 43799CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei318 – 33821HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi235 – 341107Cys-richAdd
    BLAST

    Sequence similaritiesi

    Belongs to the sarcoglycan alpha/epsilon family.Curated

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG323743.
    GeneTreeiENSGT00390000005672.
    HOGENOMiHOG000074154.
    HOVERGENiHBG006891.
    OMAiKRNMQTP.
    OrthoDBiEOG7MD4PV.
    PhylomeDBiO70258.
    TreeFamiTF314655.

    Family and domain databases

    InterProiIPR006644. Cadg.
    IPR008908. Sarcoglycan_2.
    [Graphical view]
    PANTHERiPTHR10132. PTHR10132. 1 hit.
    PfamiPF05510. Sarcoglycan_2. 1 hit.
    [Graphical view]
    SMARTiSM00736. CADG. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: O70258-1) [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

    MLLFWWWELG DPCAWTGKGR GTLKMSPATT GTFLLTVYTL FSKVHSDRNV    50
    YPSAGVLFVH VLEREYFKGE FPPYPKPGEV SNDPITFNTN LMGYPDRPGW 100
    LRYIQRTPYS DGVLYGSPTA ENVGKPTIIE ITAYNRRTFE TARHNLIINI 150
    MSAEEFPLPY QAEFFIKNMN VEEMLASEVL GDFLGAVKNV WQPERLNAIN 200
    ITSALDRGGR VPLPINDMKE GVYVMVGADV AFSSCLREVE NPQNQLRCSQ 250
    EMEPVITCDK KFRTHFHIDW CKISLVDKTK QVSTYQEVVR GEGILPDGGE 300
    YKPPSDSLKS RDYYTDFLVT LAVPSAVALV LFLILAYIMC CRREGVEKRD 350
    MQTPDIQLVH HSSIQKSTKE LRDMSKNREI AWPLSTLPVF HPVTGEVIPP 400
    THTDNYDSTN MPLMQAQQNL PHQTQIPQPQ TTGKWYP 437
    Length:437
    Mass (Da):49,736
    Last modified:July 7, 2009 - v2
    Checksum:iA294007261593637
    GO
    Isoform 2 (identifier: O70258-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         36-36: T → TAFLLSCADGINGTVNWKTKQASSFSISRKLAAGKKD

    Show »
    Length:473
    Mass (Da):53,532
    Checksum:iDCAE4D4FFA879CA6
    GO

    Sequence cautioni

    The sequence AAC14020.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.
    The sequence AAH12665.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.
    The sequence BAC36184.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti401 – 4011T → M in AAH12665. (PubMed:15489334)Curated

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei36 – 361T → TAFLLSCADGINGTVNWKTK QASSFSISRKLAAGKKD in isoform 2. 1 PublicationVSP_006019

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    BC012665 mRNA. Translation: AAH12665.1. Different initiation.
    AF031919 mRNA. Translation: AAC14020.1. Different initiation.
    AK076102 mRNA. Translation: BAC36184.1. Different initiation.
    AF103877 mRNA. Translation: AAF21895.1.
    CCDSiCCDS51716.1. [O70258-1]
    CCDS51718.1. [O70258-2]
    RefSeqiNP_001123660.1. NM_001130188.1. [O70258-2]
    NP_001123661.1. NM_001130189.1.
    NP_001123662.1. NM_001130190.1.
    NP_035490.3. NM_011360.3. [O70258-1]
    UniGeneiMm.8739.

    Genome annotation databases

    EnsembliENSMUST00000115577; ENSMUSP00000111240; ENSMUSG00000004631. [O70258-2]
    ENSMUST00000115579; ENSMUSP00000111242; ENSMUSG00000004631. [O70258-1]
    GeneIDi20392.
    KEGGimmu:20392.
    UCSCiuc009avp.2. mouse. [O70258-1]
    uc009avq.2. mouse. [O70258-2]

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    BC012665 mRNA. Translation: AAH12665.1 . Different initiation.
    AF031919 mRNA. Translation: AAC14020.1 . Different initiation.
    AK076102 mRNA. Translation: BAC36184.1 . Different initiation.
    AF103877 mRNA. Translation: AAF21895.1 .
    CCDSi CCDS51716.1. [O70258-1 ]
    CCDS51718.1. [O70258-2 ]
    RefSeqi NP_001123660.1. NM_001130188.1. [O70258-2 ]
    NP_001123661.1. NM_001130189.1.
    NP_001123662.1. NM_001130190.1.
    NP_035490.3. NM_011360.3. [O70258-1 ]
    UniGenei Mm.8739.

    3D structure databases

    ProteinModelPortali O70258.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 203196. 2 interactions.

    PTM databases

    PhosphoSitei O70258.

    Proteomic databases

    PaxDbi O70258.
    PRIDEi O70258.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENSMUST00000115577 ; ENSMUSP00000111240 ; ENSMUSG00000004631 . [O70258-2 ]
    ENSMUST00000115579 ; ENSMUSP00000111242 ; ENSMUSG00000004631 . [O70258-1 ]
    GeneIDi 20392.
    KEGGi mmu:20392.
    UCSCi uc009avp.2. mouse. [O70258-1 ]
    uc009avq.2. mouse. [O70258-2 ]

    Organism-specific databases

    CTDi 8910.
    MGIi MGI:1329042. Sgce.

    Phylogenomic databases

    eggNOGi NOG323743.
    GeneTreei ENSGT00390000005672.
    HOGENOMi HOG000074154.
    HOVERGENi HBG006891.
    OMAi KRNMQTP.
    OrthoDBi EOG7MD4PV.
    PhylomeDBi O70258.
    TreeFami TF314655.

    Miscellaneous databases

    NextBioi 298334.
    PROi O70258.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi O70258.
    Bgeei O70258.
    CleanExi MM_SGCE.
    Genevestigatori O70258.

    Family and domain databases

    InterProi IPR006644. Cadg.
    IPR008908. Sarcoglycan_2.
    [Graphical view ]
    PANTHERi PTHR10132. PTHR10132. 1 hit.
    Pfami PF05510. Sarcoglycan_2. 1 hit.
    [Graphical view ]
    SMARTi SM00736. CADG. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "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 1).
      Strain: Czech II.
      Tissue: Mammary tumor.
    2. "Epsilon-sarcoglycan, a broadly expressed homologue of the gene mutated in limb-girdle muscular dystrophy 2D."
      Ettinger A.J., Feng G., Sanes J.R.
      J. Biol. Chem. 272:32534-32538(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 11-437 (ISOFORM 1).
      Tissue: Lung.
    3. Erratum
      Ettinger A.J., Feng G., Sanes J.R.
      J. Biol. Chem. 273:19922-19922(1998)
    4. "The transcriptional landscape of the mammalian genome."
      Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N., Oyama R., Ravasi T., Lenhard B., Wells C., Kodzius R., Shimokawa K., Bajic V.B., Brenner S.E., Batalov S., Forrest A.R., Zavolan M., Davis M.J.
      , Wilming L.G., Aidinis V., Allen J.E., Ambesi-Impiombato A., Apweiler R., Aturaliya R.N., Bailey T.L., Bansal M., Baxter L., Beisel K.W., Bersano T., Bono H., Chalk A.M., Chiu K.P., Choudhary V., Christoffels A., Clutterbuck D.R., Crowe M.L., Dalla E., Dalrymple B.P., de Bono B., Della Gatta G., di Bernardo D., Down T., Engstrom P., Fagiolini M., Faulkner G., Fletcher C.F., Fukushima T., Furuno M., Futaki S., Gariboldi M., Georgii-Hemming P., Gingeras T.R., Gojobori T., Green R.E., Gustincich S., Harbers M., Hayashi Y., Hensch T.K., Hirokawa N., Hill D., Huminiecki L., Iacono M., Ikeo K., Iwama A., Ishikawa T., Jakt M., Kanapin A., Katoh M., Kawasawa Y., Kelso J., Kitamura H., Kitano H., Kollias G., Krishnan S.P., Kruger A., Kummerfeld S.K., Kurochkin I.V., Lareau L.F., Lazarevic D., Lipovich L., Liu J., Liuni S., McWilliam S., Madan Babu M., Madera M., Marchionni L., Matsuda H., Matsuzawa S., Miki H., Mignone F., Miyake S., Morris K., Mottagui-Tabar S., Mulder N., Nakano N., Nakauchi H., Ng P., Nilsson R., Nishiguchi S., Nishikawa S., Nori F., Ohara O., Okazaki Y., Orlando V., Pang K.C., Pavan W.J., Pavesi G., Pesole G., Petrovsky N., Piazza S., Reed J., Reid J.F., Ring B.Z., Ringwald M., Rost B., Ruan Y., Salzberg S.L., Sandelin A., Schneider C., Schoenbach C., Sekiguchi K., Semple C.A., Seno S., Sessa L., Sheng Y., Shibata Y., Shimada H., Shimada K., Silva D., Sinclair B., Sperling S., Stupka E., Sugiura K., Sultana R., Takenaka Y., Taki K., Tammoja K., Tan S.L., Tang S., Taylor M.S., Tegner J., Teichmann S.A., Ueda H.R., van Nimwegen E., Verardo R., Wei C.L., Yagi K., Yamanishi H., Zabarovsky E., Zhu S., Zimmer A., Hide W., Bult C., Grimmond S.M., Teasdale R.D., Liu E.T., Brusic V., Quackenbush J., Wahlestedt C., Mattick J.S., Hume D.A., Kai C., Sasaki D., Tomaru Y., Fukuda S., Kanamori-Katayama M., Suzuki M., Aoki J., Arakawa T., Iida J., Imamura K., Itoh M., Kato T., Kawaji H., Kawagashira N., Kawashima T., Kojima M., Kondo S., Konno H., Nakano K., Ninomiya N., Nishio T., Okada M., Plessy C., Shibata K., Shiraki T., Suzuki S., Tagami M., Waki K., Watahiki A., Okamura-Oho Y., Suzuki H., Kawai J., Hayashizaki Y.
      Science 309:1559-1563(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 22-437 (ISOFORM 1).
      Strain: C57BL/6J.
      Tissue: Embryo.
    5. "Epsilon-sarcoglycan replaces alpha-sarcoglycan in smooth muscle to form a unique dystrophin-glycoprotein complex."
      Straub V., Ettinger A.J., Durbeej M., Venzke D.P., Cutshall S., Sanes J.R., Campbell K.P.
      J. Biol. Chem. 274:27989-27996(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 27-437 (ISOFORM 2).
      Tissue: Lung.
    6. "SGCE missense mutations that cause myoclonus-dystonia syndrome impair epsilon-sarcoglycan trafficking to the plasma membrane: modulation by ubiquitination and torsinA."
      Esapa C.T., Waite A., Locke M., Benson M.A., Kraus M., McIlhinney R.A., Sillitoe R.V., Beesley P.W., Blake D.J.
      Hum. Mol. Genet. 16:327-342(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBCELLULAR LOCATION, GLYCOSYLATION, UBIQUITINATION, MUTAGENESIS OF HIS-60 AND LEU-196.

    Entry informationi

    Entry nameiSGCE_MOUSE
    AccessioniPrimary (citable) accession number: O70258
    Secondary accession number(s): Q921G2
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: April 27, 2001
    Last sequence update: July 7, 2009
    Last modified: October 1, 2014
    This is version 107 of the entry and version 2 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. MGD cross-references
      Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
    2. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3