SGCB
entrez
6443
canonical
uniprot
Q16585
canonical
ensembl
ENSG00000163069
resolver
ensp
ENSP00000370839
resolver
ensp
ENSP00000761520
resolver
genesymbol
SGCB
resolver
hgnc
HGNC:10806
resolver
uniprot
A0A024RDA3
resolver
uniprot
B7Z635
resolver
uniprot
O00661
resolver
uniprot
Q5U0N0
resolver
uniprot_entry
Q5U0N0_HUMAN
resolver
uniprot_entry
SGCB_HUMAN
resolver
uniprot_sec
A0A024RDA3
resolver
uniprot_sec
B7Z635
resolver
uniprot_sec
O00661
resolver
amino_acid_sequence
MAAAAAAAAEQQSSNGPVKKSMREKAVERRSVNKEHNSNFKAGYIPIDEDRLHKTGLRGRKGNLAICVIILLFILAVINLIITLVIWAVIRIGPNGCDSMEFHESGLLRFKQVSDMGVIHPLYKSTVGGRRNENLVITGNNQPIVFQQGTTKLSVENNKTSITSDIGMQFFDPRTQNILFSTDYETHEFHLPSGVKSLNVQKASTERITSNATSDLNIKVDGRAIVRGNEGVFIMGKTIEFHMGGNMELKAENSIILNGSVMVSTTRLPSSSSGDQLGSGDWVRYKLCMCADGTLFKVQVTSQNMGCQISDNPCGNTH
uniprot
proteins
disease_involvement
DISEASE: Muscular dystrophy, limb-girdle, autosomal recessive 4 (LGMDR4) [MIM:604286]: An autosomal recessive degenerative myopathy characterized by pelvic and shoulder muscle wasting, onset usually in childhood and variable progression rate. {ECO:0000269|PubMed:25862795, ECO:0000269|PubMed:30345904, ECO:0000269|PubMed:8968749, ECO:0000269|PubMed:9032047, ECO:0000269|PubMed:9565988, ECO:0000269|PubMed:9631401}. 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
34777
uniprot
proteins
post_translational_modification
PTM: Disulfide bonds are present. {ECO:0000250}.
uniprot
proteins
protein_family
Sarcoglycan beta/delta/gamma/zeta family
uniprot
proteins
pubmed
10660328
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
19159218
uniprot
proteins
pubmed
25862795
uniprot
proteins
pubmed
30345904
uniprot
proteins
pubmed
7581448
uniprot
proteins
pubmed
7581449
uniprot
proteins
pubmed
8968749
uniprot
proteins
pubmed
9032047
uniprot
proteins
pubmed
9565988
uniprot
proteins
pubmed
9631401
uniprot
proteins
sequence_length
318
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane, sarcolemma {ECO:0000250}; Single-pass type II membrane protein {ECO:0000250}. Cytoplasm, cytoskeleton {ECO:0000250}.
uniprot
proteins
transmembrane_region
TRANSMEM 66..86; /note="Helical; Signal-anchor for type II membrane protein"; /evidence="ECO:0000255
uniprot
proteins