GUSB
entrez
2990
canonical
uniprot
P08236
canonical
ensembl
ENSG00000169919
resolver
ensp
ENSP00000302728
resolver
ensp
ENSP00000391390
resolver
ensp
ENSP00000534835
resolver
ensp
ENSP00000744417
resolver
ensp
ENSP00000770425
resolver
ensp
ENSP00000770437
resolver
genesymbol
GUSB
resolver
hgnc
HGNC:4696
resolver
uniprot
B4E1F6
resolver
uniprot
E9PCV0
resolver
uniprot
Q549U0
resolver
uniprot
Q96CL9
resolver
uniprot_entry
BGLR_HUMAN
resolver
uniprot_sec
B4E1F6
resolver
uniprot_sec
E9PCV0
resolver
uniprot_sec
Q549U0
resolver
uniprot_sec
Q96CL9
resolver
activity_regulation
ACTIVITY REGULATION: Inhibited by L-aspartic acid.
uniprot
proteins
amino_acid_sequence
MARGSAVAWAALGPLLWGCALGLQGGMLYPQESPSRECKELDGLWSFRADFSDNRRRGFEEQWYRRPLWESGPTVDMPVPSSFNDISQDWRLRHFVGWVWYEREVILPERWTQDLRTRVVLRIGSAHSYAIVWVNGVDTLEHEGGYLPFEADISNLVQVGPLPSRLRITIAINNTLTPTTLPPGTIQYLTDTSKYPKGYFVQNTYFDFFNYAGLQRSVLLYTTPTTYIDDITVTTSVEQDSGLVNYQISVKGSNLFKLEVRLLDAENKVVANGTGTQGQLKVPGVSLWWPYLMHERPAYLYSLEVQLTAQTSLGPVSDFYTLPVGIRTVAVTKSQFLINGKPFYFHGVNKHEDADIRGKGFDWPLLVKDFNLLRWLGANAFRTSHYPYAEEVMQMCDRYGIVVIDECPGVGLALPQFFNNVSLHHHMQVMEEVVRRDKNHPAVVMWSVANEPASHLESAGYYLKMVIAHTKSLDPSRPVTFVSNSNYAADKGAPYVDVICLNSYYSWYHDYGHLELIQLQLATQFENWYKKYQKPIIQSEYGAETIAGFHQDPPLMFTEEYQKSLLEQYHLGLDQKRRKYVVGELIWNFADFMTEQSPTRVLGNKKGIFTRQRQPKSAAFLLRERYWKIANETRYPHSVAKSQCLENSLFT
uniprot
proteins
disease_involvement
DISEASE: Mucopolysaccharidosis 7 (MPS7) [MIM:253220]: A form of mucopolysaccharidosis, a group of lysosomal storage diseases characterized by defective degradation of glycosaminoglycans, resulting in their excessive accumulation and secretion. The diseases are progressive and often display a wide spectrum of clinical severity. MPS7 is an autosomal recessive form with a highly variable phenotype, ranging from severe lethal hydrops fetalis to mild forms with survival into adulthood. Most patients with the intermediate phenotype show hepatomegaly, skeletal anomalies, coarse facies, and variable degrees of mental impairment. {ECO:0000269|PubMed:12522561, ECO:0000269|PubMed:12859417, ECO:0000269|PubMed:1702266, ECO:0000269|PubMed:19224584, ECO:0000269|PubMed:7573038, ECO:0000269|PubMed:7633414, ECO:0000269|PubMed:7680524, ECO:0000269|PubMed:8089138, ECO:0000269|PubMed:8111412, ECO:0000269|PubMed:8111413, ECO:0000269|PubMed:8644704, ECO:0000269|PubMed:8707294, ECO:0000269|PubMed:9099834, ECO:0000269|PubMed:9490302}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.2.1.31
uniprot
proteins
function
FUNCTION: Plays an important role in the degradation of dermatan and keratan sulfates.
uniprot
proteins
mass_dalton
74732
uniprot
proteins
post_translational_modification
PTM: N-linked glycosylated with 3 to 4 oligosaccharide chains. {ECO:0000269|PubMed:12754519, ECO:0000269|PubMed:16335952, ECO:0000269|PubMed:19159218}.
uniprot
proteins
protein_family
Glycosyl hydrolase 2 family
uniprot
proteins
pubmed
11568288
uniprot
proteins
pubmed
12522561
uniprot
proteins
pubmed
12690205
uniprot
proteins
pubmed
12754519
uniprot
proteins
pubmed
12853948
uniprot
proteins
pubmed
12859417
uniprot
proteins
pubmed
1311180
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16335952
uniprot
proteins
pubmed
1702266
uniprot
proteins
pubmed
19159218
uniprot
proteins
pubmed
1916806
uniprot
proteins
pubmed
19224584
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
3355537
uniprot
proteins
pubmed
3468507
uniprot
proteins
pubmed
3924735
uniprot
proteins
pubmed
7573038
uniprot
proteins
pubmed
7633414
uniprot
proteins
pubmed
7680524
uniprot
proteins
pubmed
8089138
uniprot
proteins
pubmed
8111412
uniprot
proteins
pubmed
8111413
uniprot
proteins
pubmed
8599764
uniprot
proteins
pubmed
8644704
uniprot
proteins
pubmed
8707294
uniprot
proteins
pubmed
9099834
uniprot
proteins
pubmed
9490302
uniprot
proteins
sequence_length
651
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Lysosome.
uniprot
proteins