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O43556

- SGCE_HUMAN

UniProt

O43556 - SGCE_HUMAN

Protein

Epsilon-sarcoglycan

Gene

SGCE

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 122 (01 Oct 2014)
      Sequence version 6 (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

    GO - Biological processi

    1. cell-matrix adhesion Source: ProtInc
    2. muscle organ development Source: ProtInc

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Epsilon-sarcoglycan
    Short name:
    Epsilon-SG
    Gene namesi
    Name:SGCE
    Synonyms:ESG
    ORF Names:UNQ433/PRO840
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 7

    Organism-specific databases

    HGNCiHGNC:10808. SGCE.

    Subcellular locationi

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

    GO - Cellular componenti

    1. cytoskeleton Source: UniProtKB-SubCell
    2. dendrite Source: UniProtKB-SubCell
    3. dendrite membrane Source: UniProtKB
    4. dystrophin-associated glycoprotein complex Source: UniProtKB
    5. Golgi apparatus Source: UniProtKB
    6. integral component of plasma membrane Source: ProtInc
    7. plasma membrane Source: UniProtKB
    8. sarcoglycan complex Source: ProtInc
    9. sarcolemma Source: UniProtKB-SubCell

    Keywords - Cellular componenti

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

    Pathology & Biotechi

    Involvement in diseasei

    Dystonia 11 (DYT11) [MIM:159900]: A myoclonic dystonia. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. DYT11 is characterized by involuntary lightning jerks and dystonic movements and postures alleviated by alcohol. Inheritance is autosomal dominant. The age of onset, pattern of body involvement, presence of myoclonus and response to alcohol are all variable.9 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti36 – 361T → R in DYT11. 1 Publication
    VAR_066732
    Natural varianti60 – 601H → P in DYT11; affects protein stability; the mutant undergoes endoplasmic reticulum-associated degradation. 1 Publication
    VAR_066733
    Natural varianti60 – 601H → R in DYT11; affects protein stability; the mutant undergoes endoplasmic reticulum-associated degradation. 1 Publication
    VAR_066734
    Natural varianti92 – 921M → T in DYT11; results in gain-of-glycosylation; the mutant is targeted to the plasma membrane at reduced levels compared to wild-type. 1 Publication
    VAR_066735
    Natural varianti100 – 1001W → G in DYT11. 1 Publication
    VAR_066736
    Natural varianti112 – 1121G → R in DYT11. 1 Publication
    VAR_066737
    Natural varianti115 – 1151Y → C in DYT11; affects protein stability; the mutant undergoes endoplasmic reticulum-associated degradation. 2 Publications
    VAR_066738
    Natural varianti175 – 1751L → S in DYT11. 1 Publication
    VAR_066739
    Natural varianti177 – 1771S → C in DYT11. 1 Publication
    VAR_066740
    Natural varianti184 – 1841L → P in DYT11; affects protein stability; the mutant undergoes endoplasmic reticulum-associated degradation. 1 Publication
    VAR_066741
    Natural varianti196 – 1961L → R in DYT11. 1 Publication
    VAR_026750
    Natural varianti270 – 2701W → R in DYT11; affects protein stability; the mutant undergoes endoplasmic reticulum-associated degradation. 1 Publication
    VAR_066742
    Natural varianti271 – 2711C → Y in DYT11; affects protein stability; the mutant undergoes endoplasmic reticulum-associated degradation. 1 Publication
    VAR_066743

    Keywords - Diseasei

    Disease mutation, Dystonia

    Organism-specific databases

    MIMi159900. phenotype.
    Orphaneti36899. Myoclonus-dystonia syndrome.
    PharmGKBiPA35719.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 437437Epsilon-sarcoglycanPRO_0000031677Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi200 – 2001N-linked (GlcNAc...)1 Publication

    Post-translational modificationi

    N-glycosylated.By similarity
    Ubiquitinated, leading to its degradation by the proteasome.By similarity

    Keywords - PTMi

    Glycoprotein, Ubl conjugation

    Proteomic databases

    MaxQBiO43556.
    PaxDbiO43556.
    PRIDEiO43556.

    PTM databases

    PhosphoSiteiO43556.

    Expressioni

    Tissue specificityi

    Ubiquitous.

    Gene expression databases

    ArrayExpressiO43556.
    BgeeiO43556.
    CleanExiHS_SGCE.
    GenevestigatoriO43556.

    Interactioni

    Protein-protein interaction databases

    BioGridi114424. 4 interactions.
    IntActiO43556. 3 interactions.
    MINTiMINT-1415529.
    STRINGi9606.ENSP00000398930.

    Structurei

    3D structure databases

    ProteinModelPortaliO43556.
    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.
    HOGENOMiHOG000074154.
    HOVERGENiHBG006891.
    PhylomeDBiO43556.
    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 (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: O43556-1) [UniParc]FASTAAdd to Basket

    Also known as: epsilon-SG1

    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

    MQLPRWWELG DPCAWTGQGR GTRRMSPATT GTFLLTVYSI FSKVHSDRNV    50
    YPSAGVLFVH VLEREYFKGE FPPYPKPGEI SNDPITFNTN LMGYPDRPGW 100
    LRYIQRTPYS DGVLYGSPTA ENVGKPTIIE ITAYNRRTFE TARHNLIINI 150
    MSAEDFPLPY QAEFFIKNMN VEEMLASEVL GDFLGAVKNV WQPERLNAIN 200
    ITSALDRGGR VPLPINDLKE GVYVMVGADV PFSSCLREVE NPQNQLRCSQ 250
    EMEPVITCDK KFRTQFYIDW CKISLVDKTK QVSTYQEVIR GEGILPDGGE 300
    YKPPSDSLKS RDYYTDFLIT LAVPSAVALV LFLILAYIMC CRREGVEKRN 350
    MQTPDIQLVH HSAIQKSTKE LRDMSKNREI AWPLSTLPVF HPVTGEIIPP 400
    LHTDNYDSTN MPLMQTQQNL PHQTQIPQQQ TTGKWYP 437
    Length:437
    Mass (Da):49,851
    Last modified:July 7, 2009 - v6
    Checksum:i0996CB18272DED44
    GO
    Isoform 2 (identifier: O43556-3) [UniParc]FASTAAdd to Basket

    Also known as: epsilon-SG2

    The sequence of this isoform differs from the canonical sequence as follows:
         347-355: Missing.
         434-437: KWYP → DFRLTTFQRFEVNGIPEERKLTEAMNL

    Note: Brain-specific.

    Show »
    Length:451
    Mass (Da):51,414
    Checksum:i4EA54BF24BB23BDD
    GO
    Isoform 3 (identifier: O43556-4) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         418-418: Q → QWSFAPVAQAGVQWSDLGSLQPPPPR

    Show »
    Length:462
    Mass (Da):52,525
    Checksum:i604D3342A0F8FD7F
    GO

    Sequence cautioni

    The sequence AAC04368.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.
    The sequence BAD21206.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti78 – 781G → S in AAM64204. 1 PublicationCurated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti36 – 361T → R in DYT11. 1 Publication
    VAR_066732
    Natural varianti49 – 491N → S.1 Publication
    Corresponds to variant rs11548284 [ dbSNP | Ensembl ].
    VAR_058088
    Natural varianti60 – 601H → P in DYT11; affects protein stability; the mutant undergoes endoplasmic reticulum-associated degradation. 1 Publication
    VAR_066733
    Natural varianti60 – 601H → R in DYT11; affects protein stability; the mutant undergoes endoplasmic reticulum-associated degradation. 1 Publication
    VAR_066734
    Natural varianti92 – 921M → T in DYT11; results in gain-of-glycosylation; the mutant is targeted to the plasma membrane at reduced levels compared to wild-type. 1 Publication
    VAR_066735
    Natural varianti100 – 1001W → G in DYT11. 1 Publication
    VAR_066736
    Natural varianti112 – 1121G → R in DYT11. 1 Publication
    VAR_066737
    Natural varianti115 – 1151Y → C in DYT11; affects protein stability; the mutant undergoes endoplasmic reticulum-associated degradation. 2 Publications
    VAR_066738
    Natural varianti175 – 1751L → S in DYT11. 1 Publication
    VAR_066739
    Natural varianti177 – 1771S → C in DYT11. 1 Publication
    VAR_066740
    Natural varianti184 – 1841L → P in DYT11; affects protein stability; the mutant undergoes endoplasmic reticulum-associated degradation. 1 Publication
    VAR_066741
    Natural varianti196 – 1961L → R in DYT11. 1 Publication
    VAR_026750
    Natural varianti270 – 2701W → R in DYT11; affects protein stability; the mutant undergoes endoplasmic reticulum-associated degradation. 1 Publication
    VAR_066742
    Natural varianti271 – 2711C → Y in DYT11; affects protein stability; the mutant undergoes endoplasmic reticulum-associated degradation. 1 Publication
    VAR_066743
    Natural varianti399 – 3991P → H.1 Publication
    Corresponds to variant rs17851923 [ dbSNP | Ensembl ].
    VAR_058089

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei347 – 3559Missing in isoform 2. 1 PublicationVSP_045092
    Alternative sequencei418 – 4181Q → QWSFAPVAQAGVQWSDLGSL QPPPPR in isoform 3. CuratedVSP_054079
    Alternative sequencei434 – 4374KWYP → DFRLTTFQRFEVNGIPEERK LTEAMNL in isoform 2. 1 PublicationVSP_045093

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF036364 mRNA. Translation: AAC04368.1. Different initiation.
    AJ000534 mRNA. Translation: CAA04167.1.
    AF516515 mRNA. Translation: AAM64204.1.
    AY359042 mRNA. Translation: AAQ89401.1.
    AK313438 mRNA. Translation: BAG36229.1.
    AC069292 Genomic DNA. Translation: AAS07485.1.
    CH471091 Genomic DNA. Translation: EAW76784.1.
    CH471091 Genomic DNA. Translation: EAW76785.1.
    CH471091 Genomic DNA. Translation: EAW76786.1.
    CH471091 Genomic DNA. Translation: EAW76788.1.
    BC021709 mRNA. Translation: AAH21709.1.
    AB117974 mRNA. Translation: BAD21206.1. Different initiation.
    AF031920 mRNA. Translation: AAC14021.1.
    CCDSiCCDS47642.1. [O43556-3]
    CCDS47643.1. [O43556-4]
    CCDS5637.1. [O43556-1]
    RefSeqiNP_001092870.1. NM_001099400.1. [O43556-3]
    NP_001092871.1. NM_001099401.1. [O43556-4]
    NP_003910.1. NM_003919.2. [O43556-1]
    UniGeneiHs.371199.

    Genome annotation databases

    EnsembliENST00000265735; ENSP00000265735; ENSG00000127990. [O43556-1]
    ENST00000428696; ENSP00000397536; ENSG00000127990. [O43556-3]
    ENST00000445866; ENSP00000398930; ENSG00000127990. [O43556-4]
    GeneIDi8910.
    KEGGihsa:8910.
    UCSCiuc003unl.2. human. [O43556-1]
    uc003unm.2. human.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF036364 mRNA. Translation: AAC04368.1 . Different initiation.
    AJ000534 mRNA. Translation: CAA04167.1 .
    AF516515 mRNA. Translation: AAM64204.1 .
    AY359042 mRNA. Translation: AAQ89401.1 .
    AK313438 mRNA. Translation: BAG36229.1 .
    AC069292 Genomic DNA. Translation: AAS07485.1 .
    CH471091 Genomic DNA. Translation: EAW76784.1 .
    CH471091 Genomic DNA. Translation: EAW76785.1 .
    CH471091 Genomic DNA. Translation: EAW76786.1 .
    CH471091 Genomic DNA. Translation: EAW76788.1 .
    BC021709 mRNA. Translation: AAH21709.1 .
    AB117974 mRNA. Translation: BAD21206.1 . Different initiation.
    AF031920 mRNA. Translation: AAC14021.1 .
    CCDSi CCDS47642.1. [O43556-3 ]
    CCDS47643.1. [O43556-4 ]
    CCDS5637.1. [O43556-1 ]
    RefSeqi NP_001092870.1. NM_001099400.1. [O43556-3 ]
    NP_001092871.1. NM_001099401.1. [O43556-4 ]
    NP_003910.1. NM_003919.2. [O43556-1 ]
    UniGenei Hs.371199.

    3D structure databases

    ProteinModelPortali O43556.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 114424. 4 interactions.
    IntActi O43556. 3 interactions.
    MINTi MINT-1415529.
    STRINGi 9606.ENSP00000398930.

    PTM databases

    PhosphoSitei O43556.

    Proteomic databases

    MaxQBi O43556.
    PaxDbi O43556.
    PRIDEi O43556.

    Protocols and materials databases

    DNASUi 8910.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000265735 ; ENSP00000265735 ; ENSG00000127990 . [O43556-1 ]
    ENST00000428696 ; ENSP00000397536 ; ENSG00000127990 . [O43556-3 ]
    ENST00000445866 ; ENSP00000398930 ; ENSG00000127990 . [O43556-4 ]
    GeneIDi 8910.
    KEGGi hsa:8910.
    UCSCi uc003unl.2. human. [O43556-1 ]
    uc003unm.2. human.

    Organism-specific databases

    CTDi 8910.
    GeneCardsi GC07M094214.
    GeneReviewsi SGCE.
    HGNCi HGNC:10808. SGCE.
    MIMi 159900. phenotype.
    604149. gene.
    neXtProti NX_O43556.
    Orphaneti 36899. Myoclonus-dystonia syndrome.
    PharmGKBi PA35719.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG323743.
    HOGENOMi HOG000074154.
    HOVERGENi HBG006891.
    PhylomeDBi O43556.
    TreeFami TF314655.

    Miscellaneous databases

    ChiTaRSi SGCE. human.
    GeneWikii SGCE.
    GenomeRNAii 8910.
    NextBioi 33480.
    PROi O43556.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi O43556.
    Bgeei O43556.
    CleanExi HS_SGCE.
    Genevestigatori O43556.

    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. "Human epsilon-sarcoglycan is highly related to alpha-sarcoglycan (adhalin), the limb girdle muscular dystrophy 2D gene."
      McNally E.M., Ly C.T., Kunkel L.M.
      FEBS Lett. 422:27-32(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
      Tissue: Heart.
    2. Nigro V.
      Submitted (JUL-1997) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
      Tissue: Heart.
    3. "Epsilon-sarcoglycan mutations in three ethnically diverse families segregating Myoclonus-Dystonia."
      Dagvadorj A.
      Submitted (MAY-2002) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    5. "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 1).
      Tissue: Brain cortex.
    6. "The DNA sequence of human chromosome 7."
      Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H., Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K., Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A., Delehaunty K.D., Miner T.L.
      , Nash W.E., Cordes M., Du H., Sun H., Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A., Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P., Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M., Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S., Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R., Strowmatt C., Latreille P., Miller N., Johnson D., Murray J., Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W., Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A., Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E., Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E., Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A., Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A., Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R., McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H., Wilson R.K.
      Nature 424:157-164(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    7. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    8. "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), VARIANTS SER-49 AND HIS-399.
      Tissue: Testis.
    9. "Identification and characterization of epsilon-sarcoglycans in the central nervous system."
      Nishiyama A., Endo T., Takeda S., Imamura M.
      Brain Res. Mol. Brain Res. 125:1-12(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 14-437 (ISOFORM 2), ALTERNATIVE SPLICING.
      Tissue: Brain.
    10. "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 293-437 (ISOFORM 1).
    11. Erratum
      Ettinger A.J., Feng G., Sanes J.R.
      J. Biol. Chem. 273:19922-19922(1998)
    12. Cited for: INVOLVEMENT IN DYT11.
    13. "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-200.
      Tissue: Liver.
    14. Cited for: VARIANT DYT11 ARG-196.
    15. Cited for: VARIANT DYT11 ARG-60.
    16. Cited for: VARIANT DYT11 PRO-60.
    17. Cited for: VARIANTS DYT11 THR-92; CYS-115 AND TYR-271.
    18. "Myoclonus-dystonia syndrome: clinical presentation, disease course, and genetic features in 11 families."
      Nardocci N., Zorzi G., Barzaghi C., Zibordi F., Ciano C., Ghezzi D., Garavaglia B.
      Mov. Disord. 23:28-34(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT DYT11 ARG-112.
    19. Cited for: VARIANTS DYT11 ARG-36 AND PRO-184.
    20. Cited for: VARIANTS DYT11 GLY-100 AND CYS-115.
    21. Cited for: VARIANTS DYT11 SER-175; CYS-177 AND ARG-270.
    22. "A gain-of-glycosylation mutation associated with myoclonus-dystonia syndrome affects trafficking and processing of mouse epsilon-sarcoglycan in the late secretory pathway."
      Waite A., De Rosa M.C., Brancaccio A., Blake D.J.
      Hum. Mutat. 32:1246-1258(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: CHARACTERIZATION OF VARIANTS DYT11 ARG-60; PRO-60; THR-92; CYS-115; ARG-270 AND TYR-271.

    Entry informationi

    Entry nameiSGCE_HUMAN
    AccessioniPrimary (citable) accession number: O43556
    Secondary accession number(s): B2R8N2
    , D6W5Q8, E9PF60, G5E9K6, Q6L8P0, Q75MH8, Q8NFG8, Q8WW28
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: April 27, 2001
    Last sequence update: July 7, 2009
    Last modified: October 1, 2014
    This is version 122 of the entry and version 6 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 7
      Human chromosome 7: 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