SGCE
entrez
8910
canonical
uniprot
O43556
canonical
ensembl
ENSG00000127990
resolver
ensp
ENSP00000388734
resolver
ensp
ENSP00000394061
resolver
ensp
ENSP00000398930
resolver
ensp
ENSP00000493751
resolver
ensp
ENSP00000494488
resolver
ensp
ENSP00000496237
resolver
ensp
ENSP00000496268
resolver
ensp
ENSP00000496455
resolver
ensp
ENSP00000497130
resolver
enst
ENST00000437425
resolver
enst
ENST00000447873
resolver
enst
ENST00000642394
resolver
enst
ENST00000643272
resolver
enst
ENST00000646489
resolver
genesymbol
SGCE
resolver
genesymbol_syn
ESG
resolver
hgnc
HGNC:10808
resolver
uniprot
A0A0S2Z4P5
resolver
uniprot
A0A0S2Z4P9
resolver
uniprot
A0A2R8Y448
resolver
uniprot
A0A2R8Y5J3
resolver
uniprot
A0A2R8YGQ3
resolver
uniprot
B2R8N2
resolver
uniprot
B4DP78
resolver
uniprot
C9JR67
resolver
uniprot
D6W5Q8
resolver
uniprot
E9PEH6
resolver
uniprot
E9PF60
resolver
uniprot
G5E9K6
resolver
uniprot
Q6L8P0
resolver
uniprot
Q75MH8
resolver
uniprot
Q8NFG8
resolver
uniprot
Q8WW28
resolver
uniprot_entry
A0A0S2Z4P5_HUMAN
resolver
uniprot_entry
A0A0S2Z4P9_HUMAN
resolver
uniprot_entry
A0A2R8Y448_HUMAN
resolver
uniprot_entry
A0A2R8Y5J3_HUMAN
resolver
uniprot_entry
A0A2R8YGQ3_HUMAN
resolver
uniprot_entry
B4DP78_HUMAN
resolver
uniprot_entry
C9JR67_HUMAN
resolver
uniprot_entry
E9PEH6_HUMAN
resolver
uniprot_entry
SGCE_HUMAN
resolver
uniprot_sec
B2R8N2
resolver
uniprot_sec
D6W5Q8
resolver
uniprot_sec
E9PF60
resolver
uniprot_sec
G5E9K6
resolver
uniprot_sec
Q6L8P0
resolver
uniprot_sec
Q75MH8
resolver
uniprot_sec
Q8NFG8
resolver
uniprot_sec
Q8WW28
resolver
amino_acid_sequence
MQLPRWWELGDPCAWTGQGRGTRRMSPATTGTFLLTVYSIFSKVHSDRNVYPSAGVLFVHVLEREYFKGEFPPYPKPGEISNDPITFNTNLMGYPDRPGWLRYIQRTPYSDGVLYGSPTAENVGKPTIIEITAYNRRTFETARHNLIINIMSAEDFPLPYQAEFFIKNMNVEEMLASEVLGDFLGAVKNVWQPERLNAINITSALDRGGRVPLPINDLKEGVYVMVGADVPFSSCLREVENPQNQLRCSQEMEPVITCDKKFRTQFYIDWCKISLVDKTKQVSTYQEVIRGEGILPDGGEYKPPSDSLKSRDYYTDFLITLAVPSAVALVLFLILAYIMCCRREGVEKRNMQTPDIQLVHHSAIQKSTKELRDMSKNREIAWPLSTLPVFHPVTGEIIPPLHTDNYDSTNMPLMQTQQNLPHQTQIPQQQTTGKWYP
uniprot
proteins
disease_involvement
DISEASE: Dystonia 11, myoclonic (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. {ECO:0000269|PubMed:11528394, ECO:0000269|PubMed:12402271, ECO:0000269|PubMed:15079037, ECO:0000269|PubMed:15258227, ECO:0000269|PubMed:16227522, ECO:0000269|PubMed:17853490, ECO:0000269|PubMed:18175340, ECO:0000269|PubMed:18362280, ECO:0000269|PubMed:19066193, ECO:0000269|PubMed:21796726}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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.
uniprot
proteins
mass_dalton
49851
uniprot
proteins
post_translational_modification
PTM: N-glycosylated. {ECO:0000250}.; PTM: Ubiquitinated, leading to its degradation by the proteasome. {ECO:0000250}.
uniprot
proteins
protein_family
Sarcoglycan alpha/epsilon family
uniprot
proteins
pubmed
11528394
uniprot
proteins
pubmed
12402271
uniprot
proteins
pubmed
12853948
uniprot
proteins
pubmed
12975309
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15079037
uniprot
proteins
pubmed
15193417
uniprot
proteins
pubmed
15258227
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16227522
uniprot
proteins
pubmed
17853490
uniprot
proteins
pubmed
18175340
uniprot
proteins
pubmed
18362280
uniprot
proteins
pubmed
19066193
uniprot
proteins
pubmed
19159218
uniprot
proteins
pubmed
21796726
uniprot
proteins
pubmed
9405466
uniprot
proteins
pubmed
9475163
uniprot
proteins
sequence_length
437
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane, sarcolemma {ECO:0000250}; Single-pass membrane protein {ECO:0000250}. Cytoplasm, cytoskeleton {ECO:0000250}. Cell projection, dendrite {ECO:0000250}. Golgi apparatus {ECO:0000250}.
uniprot
proteins
transmembrane_region
TRANSMEM 318..338; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins