SGCD
entrez
6444
canonical
uniprot
Q92629
canonical
ensembl
ENSG00000170624
resolver
ensp
ENSP00000338343
resolver
ensp
ENSP00000403003
resolver
ensp
ENSP00000629841
resolver
ensp
ENSP00000629844
resolver
ensp
ENSP00000762060
resolver
ensp
ENSP00000794108
resolver
genesymbol
SGCD
resolver
hgnc
HGNC:10807
resolver
uniprot
A8K9S9
resolver
uniprot
Q53XA5
resolver
uniprot
Q99644
resolver
uniprot_entry
SGCD_HUMAN
resolver
uniprot_sec
A8K9S9
resolver
uniprot_sec
Q53XA5
resolver
uniprot_sec
Q99644
resolver
amino_acid_sequence
MPQEQYTHHRSTMPGSVGPQVYKVGIYGWRKRCLYFFVLLLMILILVNLAMTIWILKVMNFTIDGMGNLRITEKGLKLEGDSEFLQPLYAKEIQSRPGNALYFKSARNVTVNILNDQTKVLTQLITGPKAVEAYGKKFEVKTVSGKLLFSADNNEVVVGAERLRVLGAEGTVFPKSIETPNVRADPFKELRLESPTRSLVMEAPKGVEINAEAGNMEATCRTELRLESKDGEIKLDAAKIRLPRLPHGSYTPTGTRQKVFEICVCANGRLFLSQAGAGSTCQINTSVCL
uniprot
proteins
disease_involvement
DISEASE: Muscular dystrophy, limb-girdle, autosomal recessive 6 (LGMDR6) [MIM:601287]: An autosomal recessive degenerative myopathy initially affecting the proximal limb girdle musculature. Muscle from patients shows a complete loss of delta-sarcoglycan as well as of the others components of the sarcoglycan complex. {ECO:0000269|PubMed:9832045}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Cardiomyopathy, dilated, 1L (CMD1L) [MIM:606685]: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. {ECO:0000269|PubMed:10974018}. 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
32071
uniprot
proteins
post_translational_modification
PTM: Glycosylated.; PTM: Disulfide bonds are present. {ECO:0000250}.
uniprot
proteins
protein_family
Sarcoglycan beta/delta/gamma/zeta family
uniprot
proteins
pubmed
10629222
uniprot
proteins
pubmed
10974018
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
8842738
uniprot
proteins
pubmed
8943294
uniprot
proteins
pubmed
9832045
uniprot
proteins
sequence_length
289
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane, sarcolemma; Single-pass type II membrane protein. Cytoplasm, cytoskeleton.
uniprot
proteins
transmembrane_region
TRANSMEM 36..56; /note="Helical; Signal-anchor for type II membrane protein"; /evidence="ECO:0000255
uniprot
proteins