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O43556 (SGCE_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 117. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Epsilon-sarcoglycan

Short name=Epsilon-SG
Gene names
Name:SGCE
Synonyms:ESG
ORF Names:UNQ433/PRO840
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length437 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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.

Subcellular location

Cell membranesarcolemma; Single-pass membrane protein Potential. Cytoplasmcytoskeleton By similarity.

Tissue specificity

Ubiquitous.

Involvement in disease

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. Ref.12 Ref.14 Ref.15 Ref.16 Ref.17 Ref.18 Ref.19 Ref.20 Ref.21 Ref.22

Sequence similarities

Belongs to the sarcoglycan alpha/epsilon family.

Sequence caution

The sequence AAC04368.1 differs from that shown. Reason: Erroneous initiation.

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

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: O43556-1)

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.
Isoform 2 (identifier: O43556-3)

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.
Isoform 3 (identifier: O43556-4)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 437437Epsilon-sarcoglycan
PRO_0000031677

Regions

Topological domain1 – 317317Extracellular Potential
Transmembrane318 – 33821Helical; Potential
Topological domain339 – 43799Cytoplasmic Potential
Compositional bias235 – 341107Cys-rich

Amino acid modifications

Glycosylation2001N-linked (GlcNAc...) Ref.13

Natural variations

Alternative sequence347 – 3559Missing in isoform 2.
VSP_045092
Alternative sequence4181Q → QWSFAPVAQAGVQWSDLGSL QPPPPR in isoform 3.
VSP_054079
Alternative sequence434 – 4374KWYP → DFRLTTFQRFEVNGIPEERK LTEAMNL in isoform 2.
VSP_045093
Natural variant361T → R in DYT11. Ref.19
VAR_066732
Natural variant491N → S. Ref.8
Corresponds to variant rs11548284 [ dbSNP | Ensembl ].
VAR_058088
Natural variant601H → P in DYT11; affects protein stability; the mutant undergoes endoplasmic reticulum-associated degradation. Ref.16 Ref.22
VAR_066733
Natural variant601H → R in DYT11; affects protein stability; the mutant undergoes endoplasmic reticulum-associated degradation. Ref.15 Ref.22
VAR_066734
Natural variant921M → T in DYT11; results in gain-of-glycosylation; the mutant is targeted to the plasma membrane at reduced levels compared to wild-type. Ref.17 Ref.22
VAR_066735
Natural variant1001W → G in DYT11. Ref.20
VAR_066736
Natural variant1121G → R in DYT11. Ref.18
VAR_066737
Natural variant1151Y → C in DYT11; affects protein stability; the mutant undergoes endoplasmic reticulum-associated degradation. Ref.17 Ref.20 Ref.22
VAR_066738
Natural variant1751L → S in DYT11. Ref.21
VAR_066739
Natural variant1771S → C in DYT11. Ref.21
VAR_066740
Natural variant1841L → P in DYT11; affects protein stability; the mutant undergoes endoplasmic reticulum-associated degradation. Ref.19
VAR_066741
Natural variant1961L → R in DYT11. Ref.14
VAR_026750
Natural variant2701W → R in DYT11; affects protein stability; the mutant undergoes endoplasmic reticulum-associated degradation. Ref.21 Ref.22
VAR_066742
Natural variant2711C → Y in DYT11; affects protein stability; the mutant undergoes endoplasmic reticulum-associated degradation. Ref.17 Ref.22
VAR_066743
Natural variant3991P → H. Ref.8
Corresponds to variant rs17851923 [ dbSNP | Ensembl ].
VAR_058089

Experimental info

Sequence conflict781G → S in AAM64204. Ref.3

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 (epsilon-SG1) [UniParc].

Last modified July 7, 2009. Version 6.
Checksum: 0996CB18272DED44

FASTA43749,851
        10         20         30         40         50         60 
MQLPRWWELG DPCAWTGQGR GTRRMSPATT GTFLLTVYSI FSKVHSDRNV YPSAGVLFVH 

        70         80         90        100        110        120 
VLEREYFKGE FPPYPKPGEI SNDPITFNTN LMGYPDRPGW LRYIQRTPYS DGVLYGSPTA 

       130        140        150        160        170        180 
ENVGKPTIIE ITAYNRRTFE TARHNLIINI MSAEDFPLPY QAEFFIKNMN VEEMLASEVL 

       190        200        210        220        230        240 
GDFLGAVKNV WQPERLNAIN ITSALDRGGR VPLPINDLKE GVYVMVGADV PFSSCLREVE 

       250        260        270        280        290        300 
NPQNQLRCSQ EMEPVITCDK KFRTQFYIDW CKISLVDKTK QVSTYQEVIR GEGILPDGGE 

       310        320        330        340        350        360 
YKPPSDSLKS RDYYTDFLIT LAVPSAVALV LFLILAYIMC CRREGVEKRN MQTPDIQLVH 

       370        380        390        400        410        420 
HSAIQKSTKE LRDMSKNREI AWPLSTLPVF HPVTGEIIPP LHTDNYDSTN MPLMQTQQNL 

       430 
PHQTQIPQQQ TTGKWYP 

« Hide

Isoform 2 (epsilon-SG2) [UniParc].

Checksum: 4EA54BF24BB23BDD
Show »

FASTA45151,414
Isoform 3 [UniParc].

Checksum: 604D3342A0F8FD7F
Show »

FASTA46252,525

References

« Hide 'large scale' references
[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]"The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment."
Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J., Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P., Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E. expand/collapse author list , Heldens S., Huang A., Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D., Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L., Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C., Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J., Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M.
Genome Res. 13:2265-2270(2003) [PubMed] [Europe PMC] [Abstract]
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. expand/collapse author list , 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. expand/collapse author list , 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]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
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]"Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome."
Zimprich A., Grabowski M., Asmus F., Naumann M., Berg D., Bertram M., Scheidtmann K., Kern P., Winkelmann J., Muller-Myhsok B., Riedel L., Bauer M., Muller T., Castro M., Meitinger T., Strom T.M., Gasser T.
Nat. Genet. 29:66-69(2001) [PubMed] [Europe PMC] [Abstract]
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]"Epsilon-sarcoglycan mutations found in combination with other dystonia gene mutations."
Klein C., Liu L., Doheny D., Kock N., Muller B., de Carvalho Aguiar P., Leung J., de Leon D., Bressman S.B., Silverman J., Smith C., Danisi F., Morrison C., Walker R.H., Velickovic M., Schwinger E., Kramer P.L., Breakefield X.O., Brin M.F., Ozelius L.J.
Ann. Neurol. 52:675-679(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT DYT11 ARG-196.
[15]"Genetic heterogeneity in ten families with myoclonus-dystonia."
Schule B., Kock N., Svetel M., Dragasevic N., Hedrich K., De Carvalho Aguiar P., Liu L., Kabakci K., Garrels J., Meyer E.M., Berisavac I., Schwinger E., Kramer P.L., Ozelius L.J., Klein C., Kostic V.
J. Neurol. Neurosurg. Psych. 75:1181-1185(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT DYT11 ARG-60.
[16]"Myoclonus-dystonia: detection of novel, recurrent, and de novo SGCE mutations."
Hedrich K., Meyer E.M., Schule B., Kock N., de Carvalho Aguiar P., Wiegers K., Koelman J.H., Garrels J., Durr R., Liu L., Schwinger E., Ozelius L.J., Landwehrmeyer B., Stoessl A.J., Tijssen M.A., Klein C.
Neurology 62:1229-1231(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT DYT11 PRO-60.
[17]"Epsilon sarcoglycan mutations and phenotype in French patients with myoclonic syndromes."
Tezenas du Montcel S., Clot F., Vidailhet M., Roze E., Damier P., Jedynak C.P., Camuzat A., Lagueny A., Vercueil L., Doummar D., Guyant-Marechal L., Houeto J.L., Ponsot G., Thobois S., Cournelle M.A., Durr A., Durif F., Echenne B. expand/collapse author list , Hannequin D., Tranchant C., Brice A.
J. Med. Genet. 43:394-400(2006) [PubMed] [Europe PMC] [Abstract]
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]"Phenotypic spectrum and sex effects in eleven myoclonus-dystonia families with epsilon-sarcoglycan mutations."
Raymond D., Saunders-Pullman R., de Carvalho Aguiar P., Schule B., Kock N., Friedman J., Harris J., Ford B., Frucht S., Heiman G.A., Jennings D., Doheny D., Brin M.F., de Leon Brin D., Multhaupt-Buell T., Lang A.E., Kurlan R., Klein C., Ozelius L., Bressman S.
Mov. Disord. 23:588-592(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS DYT11 ARG-36 AND PRO-184.
[20]"Myoclonus-dystonia: clinical and electrophysiologic pattern related to SGCE mutations."
Roze E., Apartis E., Clot F., Dorison N., Thobois S., Guyant-Marechal L., Tranchant C., Damier P., Doummar D., Bahi-Buisson N., Andre-Obadia N., Maltete D., Echaniz-Laguna A., Pereon Y., Beaugendre Y., Dupont S., De Greslan T., Jedynak C.P. expand/collapse author list , Ponsot G., Dussaule J.C., Brice A., Durr A., Vidailhet M.
Neurology 70:1010-1016(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS DYT11 GLY-100 AND CYS-115.
[21]"Myoclonus-dystonia: clinical and genetic evaluation of a large cohort."
Ritz K., Gerrits M.C., Foncke E.M., van Ruissen F., van der Linden C., Vergouwen M.D., Bloem B.R., Vandenberghe W., Crols R., Speelman J.D., Baas F., Tijssen M.A.
J. Neurol. Neurosurg. Psych. 80:653-658(2009) [PubMed] [Europe PMC] [Abstract]
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.
+Additional computationally mapped references.

Web resources

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_001092870.1. NM_001099400.1.
NP_001092871.1. NM_001099401.1.
NP_003910.1. NM_003919.2.
UniGeneHs.371199.

3D structure databases

ProteinModelPortalO43556.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid114424. 4 interactions.
IntActO43556. 3 interactions.
MINTMINT-1415529.
STRING9606.ENSP00000398930.

PTM databases

PhosphoSiteO43556.

Proteomic databases

PaxDbO43556.
PRIDEO43556.

Protocols and materials databases

DNASU8910.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000265735; ENSP00000265735; ENSG00000127990. [O43556-1]
ENST00000445866; ENSP00000398930; ENSG00000127990.
GeneID8910.
KEGGhsa:8910.
UCSCuc003unl.2. human. [O43556-1]

Organism-specific databases

CTD8910.
GeneCardsGC07M094214.
HGNCHGNC:10808. SGCE.
MIM159900. phenotype.
604149. gene.
neXtProtNX_O43556.
Orphanet36899. Myoclonus-dystonia syndrome.
PharmGKBPA35719.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG323743.
HOGENOMHOG000074154.
HOVERGENHBG006891.
PhylomeDBO43556.
TreeFamTF314655.

Gene expression databases

ArrayExpressO43556.
BgeeO43556.
CleanExHS_SGCE.
GenevestigatorO43556.

Family and domain databases

InterProIPR006644. Cadg.
IPR008908. Sarcoglycan_2.
[Graphical view]
PANTHERPTHR10132. PTHR10132. 1 hit.
PfamPF05510. Sarcoglycan_2. 1 hit.
[Graphical view]
SMARTSM00736. CADG. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSSGCE. human.
GeneWikiSGCE.
GenomeRNAi8910.
NextBio33480.
PROO43556.
SOURCESearch...

Entry information

Entry nameSGCE_HUMAN
AccessionPrimary (citable) accession number: O43556
Secondary accession number(s): B2R8N2 expand/collapse secondary AC list , D6W5Q8, E9PF60, G5E9K6, Q6L8P0, Q75MH8, Q8NFG8, Q8WW28
Entry history
Integrated into UniProtKB/Swiss-Prot: April 27, 2001
Last sequence update: July 7, 2009
Last modified: April 16, 2014
This is version 117 of the entry and version 6 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 7

Human chromosome 7: entries, gene names and cross-references to MIM