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O43556

- SGCE_HUMAN

UniProt

O43556 - SGCE_HUMAN

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Protein

Epsilon-sarcoglycan

Gene
SGCE, ESG, UNQ433/PRO840
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

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
Complete GO annotation...

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

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 317317Extracellular Reviewed predictionAdd
BLAST
Transmembranei318 – 33821Helical; Reviewed predictionAdd
BLAST
Topological domaini339 – 43799Cytoplasmic Reviewed predictionAdd
BLAST

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
Complete GO annotation...

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.
Note: The disease is caused by mutations affecting the gene represented in this entry.10 Publications
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. 2 Publications
VAR_066733
Natural varianti60 – 601H → R in DYT11; affects protein stability; the mutant undergoes endoplasmic reticulum-associated degradation. 2 Publications
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. 2 Publications
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. 3 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. 2 Publications
VAR_066742
Natural varianti271 – 2711C → Y in DYT11; affects protein stability; the mutant undergoes endoplasmic reticulum-associated degradation. 2 Publications
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.

Family & Domainsi

Compositional bias

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

Sequence similaritiesi

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.

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. 2 Publications
VAR_066733
Natural varianti60 – 601H → R in DYT11; affects protein stability; the mutant undergoes endoplasmic reticulum-associated degradation. 2 Publications
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. 2 Publications
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. 3 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. 2 Publications
VAR_066742
Natural varianti271 – 2711C → Y in DYT11; affects protein stability; the mutant undergoes endoplasmic reticulum-associated degradation. 2 Publications
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. VSP_045092
Alternative sequencei418 – 4181Q → QWSFAPVAQAGVQWSDLGSL QPPPPR in isoform 3. VSP_054079
Alternative sequencei434 – 4374KWYP → DFRLTTFQRFEVNGIPEERK LTEAMNL in isoform 2. VSP_045093

Sequence conflict

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

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]
ENST00000445866; ENSP00000398930; ENSG00000127990.
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 ]
ENST00000445866 ; ENSP00000398930 ; ENSG00000127990 .
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

« Hide 'large scale' publications
  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: September 3, 2014
This is version 121 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

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