Details for: SGCE
Associated with
Other Information
Genular Protein ID: 1286294770
Symbol: SGCE_HUMAN
Name: Epsilon-sarcoglycan
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 9475163
Title: Human epsilon-sarcoglycan is highly related to alpha-sarcoglycan (adhalin), the limb girdle muscular dystrophy 2D gene.
PubMed ID: 9475163
PubMed ID: 12975309
Title: The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment.
PubMed ID: 12975309
DOI: 10.1101/gr.1293003
PubMed ID: 14702039
Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.
PubMed ID: 14702039
DOI: 10.1038/ng1285
PubMed ID: 12853948
PubMed ID: 15489334
Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
PubMed ID: 15489334
DOI: 10.1101/gr.2596504
PubMed ID: 15193417
Title: Identification and characterization of epsilon-sarcoglycans in the central nervous system.
PubMed ID: 15193417
PubMed ID: 9405466
Title: Epsilon-sarcoglycan, a broadly expressed homologue of the gene mutated in limb-girdle muscular dystrophy 2D.
PubMed ID: 9405466
PubMed ID: 11528394
Title: Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome.
PubMed ID: 11528394
DOI: 10.1038/ng709
PubMed ID: 19159218
Title: Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.
PubMed ID: 19159218
DOI: 10.1021/pr8008012
PubMed ID: 12402271
Title: Epsilon-sarcoglycan mutations found in combination with other dystonia gene mutations.
PubMed ID: 12402271
DOI: 10.1002/ana.10358
PubMed ID: 15258227
Title: Genetic heterogeneity in ten families with myoclonus-dystonia.
PubMed ID: 15258227
PubMed ID: 15079037
Title: Myoclonus-dystonia: detection of novel, recurrent, and de novo SGCE mutations.
PubMed ID: 15079037
PubMed ID: 16227522
Title: Epsilon sarcoglycan mutations and phenotype in French patients with myoclonic syndromes.
PubMed ID: 16227522
PubMed ID: 17853490
Title: Myoclonus-dystonia syndrome: clinical presentation, disease course, and genetic features in 11 families.
PubMed ID: 17853490
DOI: 10.1002/mds.21715
PubMed ID: 18175340
Title: Phenotypic spectrum and sex effects in eleven myoclonus-dystonia families with epsilon-sarcoglycan mutations.
PubMed ID: 18175340
DOI: 10.1002/mds.21785
PubMed ID: 18362280
Title: Myoclonus-dystonia: clinical and electrophysiologic pattern related to SGCE mutations.
PubMed ID: 18362280
PubMed ID: 19066193
Title: Myoclonus-dystonia: clinical and genetic evaluation of a large cohort.
PubMed ID: 19066193
PubMed ID: 21796726
Title: A gain-of-glycosylation mutation associated with myoclonus-dystonia syndrome affects trafficking and processing of mouse epsilon-sarcoglycan in the late secretory pathway.
PubMed ID: 21796726
DOI: 10.1002/humu.21561
Sequence Information:
- Length: 437
- Mass: 49851
- Checksum: 0996CB18272DED44
- Sequence:
MQLPRWWELG DPCAWTGQGR GTRRMSPATT GTFLLTVYSI FSKVHSDRNV YPSAGVLFVH VLEREYFKGE FPPYPKPGEI SNDPITFNTN LMGYPDRPGW LRYIQRTPYS DGVLYGSPTA ENVGKPTIIE ITAYNRRTFE TARHNLIINI MSAEDFPLPY QAEFFIKNMN VEEMLASEVL GDFLGAVKNV WQPERLNAIN ITSALDRGGR VPLPINDLKE GVYVMVGADV PFSSCLREVE NPQNQLRCSQ EMEPVITCDK KFRTQFYIDW CKISLVDKTK QVSTYQEVIR GEGILPDGGE YKPPSDSLKS RDYYTDFLIT LAVPSAVALV LFLILAYIMC CRREGVEKRN MQTPDIQLVH HSAIQKSTKE LRDMSKNREI AWPLSTLPVF HPVTGEIIPP LHTDNYDSTN MPLMQTQQNL PHQTQIPQQQ TTGKWYP
Genular Protein ID: 586057977
Symbol: C9JR67_HUMAN
Name: N/A
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 12853948
PubMed ID: 26871637
Title: Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.
PubMed ID: 26871637
Sequence Information:
- Length: 428
- Mass: 48751
- Checksum: BB56EE16CE6815CF
- Sequence:
MQLPRWWELG DPCAWTGQGR GTRRMSPATT GTFLLTVYSI FSKVHSDRNV YPSAGVLFVH VLEREYFKGE FPPYPKPGEI SNDPITFNTN LMGYPDRPGW LRYIQRTPYS DGVLYGSPTA ENVGKPTIIE ITAYNRRTFE TARHNLIINI MSAEDFPLPY QAEFFIKNMN VEEMLASEVL GDFLGAVKNV WQPERLNAIN ITSALDRGGR VPLPINDLKE GVYVMVGADV PFSSCLREVE NPQNQLRCSQ EMEPVITCDK KFRTQFYIDW CKISLVDKTK QVSTYQEVIR GEGILPDGGE YKPPSDSLKS RDYYTDFLIT LAVPSAVALV LFLILAYIMC CRREGVIQLV HHSAIQKSTK ELRDMSKNRE IAWPLSTLPV FHPVTGEIIP PLHTDNYDST NMPLMQTQQN LPHQTQIPQQ QTTGKWYP
Genular Protein ID: 3476349416
Symbol: A0A2R8YGQ3_HUMAN
Name: N/A
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 12853948
Sequence Information:
- Length: 473
- Mass: 53777
- Checksum: B5C448BD2BFE6CFC
- Sequence:
MQLPRWWELG DPCAWTGQGR GTRRMSPATT GTFLLTAFLL SCADGINGTV NWKTRQANNF IISRKMAAGM KDVYSIFSKV HSDRNVYPSA GVLFVHVLER EYFKGEFPPY PKPGEISNDP ITFNTNLMGY PDRPGWLRYI QRTPYSDGVL YGSPTAENVG KPTIIEITAY NRRTFETARH NLIINIMSAE DFPLPYQAEF FIKNMNVEEM LASEVLGDFL GAVKNVWQPE RLNAINITSA LDRGGRVPLP INDLKEGVYV MVGADVPFSS CLREVENPQN QLRCSQEMEP VITCDKKFRT QFYIDWCKIS LVDKTKQVST YQEVIRGEGI LPDGGEYKPP SDSLKSRDYY TDFLITLAVP SAVALVLFLI LAYIMCCRRE GVEKRNMQTP DIQLVHHSAI QKSTKELRDM SKNREIAWPL STLPVFHPVT GEIIPPLHTD NYDSTNMPLM QTQQNLPHQT QIPQQQTTGK WYP
Genular Protein ID: 440640001
Symbol: B4DP78_HUMAN
Name: N/A
UniProtKB Accession Codes:
Database IDs:
Sequence Information:
- Length: 396
- Mass: 45053
- Checksum: 6C3208F23D53F953
- Sequence:
MQLPRWWELG DPCAWTGQGR GTRRMSPATT GTFLLTGEIS NDPITFNTNL MGYPDRPGWL RYIQRTPYSD GVLYGSPTAE NVGKPTIIEI TAYNRRTFET ARHNLIINIM SAEDFPLPYQ AEFFIKNMNV EEMLASEVLG DFLGAVKNVW QPERLNAINI TSALDRGGRV PLPINDLKEG VYVMVGADVP FSSCLREVEN PQNQLRCSQE MEPVITCDKK FRTQFYIDWC KISLVVKTKQ VSTYQEVIRG EGILPDGGEY KPPSDSLKSR DYYTDFLITL AVPSAVALVL FLILAYIMCC RREGVEKRNM QTPDIQLVHH SAIQKSTKEL RDMSKNREIA WPLSTLPVFH PVTGEIIPPL HTDNYDSTNM PLMQTQQNLP HQTQIPQQQT TGKWYP
Genular Protein ID: 3027568893
Symbol: A0A2R8Y5J3_HUMAN
Name: N/A
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 12853948
Sequence Information:
- Length: 464
- Mass: 52676
- Checksum: 5D6C990317AE071E
- Sequence:
MQLPRWWELG DPCAWTGQGR GTRRMSPATT GTFLLTAFLL SCADGINGTV NWKTRQANNF IISRKMAAGM KDVYSIFSKV HSDRNVYPSA GVLFVHVLER EYFKGEFPPY PKPGEISNDP ITFNTNLMGY PDRPGWLRYI QRTPYSDGVL YGSPTAENVG KPTIIEITAY NRRTFETARH NLIINIMSAE DFPLPYQAEF FIKNMNVEEM LASEVLGDFL GAVKNVWQPE RLNAINITSA LDRGGRVPLP INDLKEGVYV MVGADVPFSS CLREVENPQN QLRCSQEMEP VITCDKKFRT QFYIDWCKIS LVDKTKQVST YQEVIRGEGI LPDGGEYKPP SDSLKSRDYY TDFLITLAVP SAVALVLFLI LAYIMCCRRE GVIQLVHHSA IQKSTKELRD MSKNREIAWP LSTLPVFHPV TGEIIPPLHT DNYDSTNMPL MQTQQNLPHQ TQIPQQQTTG KWYP
Genular Protein ID: 2396436794
Symbol: E9PEH6_HUMAN
Name: N/A
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 12853948
Sequence Information:
- Length: 396
- Mass: 45069
- Checksum: A919540FA333E0B4
- Sequence:
MQLPRWWELG DPCAWTGQGR GTRRMSPATT GTFLLTGEIS NDPITFNTNL MGYPDRPGWL RYIQRTPYSD GVLYGSPTAE NVGKPTIIEI TAYNRRTFET ARHNLIINIM SAEDFPLPYQ AEFFIKNMNV EEMLASEVLG DFLGAVKNVW QPERLNAINI TSALDRGGRV PLPINDLKEG VYVMVGADVP FSSCLREVEN PQNQLRCSQE MEPVITCDKK FRTQFYIDWC KISLVDKTKQ VSTYQEVIRG EGILPDGGEY KPPSDSLKSR DYYTDFLITL AVPSAVALVL FLILAYIMCC RREGVEKRNM QTPDIQLVHH SAIQKSTKEL RDMSKNREIA WPLSTLPVFH PVTGEIIPPL HTDNYDSTNM PLMQTQQNLP HQTQIPQQQT TGKWYP
Database document:
This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.