ARSB
entrez
411
canonical
uniprot
P15848
canonical
ensembl
ENSG00000113273
resolver
ensp
ENSP00000264914
resolver
ensp
ENSP00000379455
resolver
ensp
ENSP00000456339
resolver
ensp
ENSP00000780913
resolver
ensp
ENSP00000784849
resolver
genesymbol
ARSB
resolver
hgnc
HGNC:714
resolver
uniprot
A8K4A0
resolver
uniprot
B2RC20
resolver
uniprot
Q8N322
resolver
uniprot
Q9UDI9
resolver
uniprot_entry
A8K4A0_HUMAN
resolver
uniprot_entry
ARSB_HUMAN
resolver
uniprot_sec
B2RC20
resolver
uniprot_sec
Q8N322
resolver
uniprot_sec
Q9UDI9
resolver
activity_regulation
ACTIVITY REGULATION: Inhibited by ethanol (By similarity). {ECO:0000250|UniProtKB:P50430}.
uniprot
proteins
amino_acid_sequence
MGPRGAASLPRGPGPRRLLLPVVLPLLLLLLLAPPGSGAGASRPPHLVFLLADDLGWNDVGFHGSRIRTPHLDALAAGGVLLDNYYTQPLCTPSRSQLLTGRYQIRTGLQHQIIWPCQPSCVPLDEKLLPQLLKEAGYTTHMVGKWHLGMYRKECLPTRRGFDTYFGYLLGSEDYYSHERCTLIDALNVTRCALDFRDGEEVATGYKNMYSTNIFTKRAIALITNHPPEKPLFLYLALQSVHEPLQVPEEYLKPYDFIQDKNRHHYAGMVSLMDEAVGNVTAALKSSGLWNNTVFIFSTDNGGQTLAGGNNWPLRGRKWSLWEGGVRGVGFVASPLLKQKGVKNRELIHISDWLPTLVKLARGHTNGTKPLDGFDVWKTISEGSPSPRIELLHNIDPNFVDSSPCPRNSMAPAKDDSSLPEYSAFNTSVHAAIRHGNWKLLTGYPGCGYWFPPPSQYNVSEIPSSDPPTKTLWLFDIDRDPEERHDLSREYPHIVTKLLSRLQFYHKHSVPVYFPAQDPRCDPKATGVWGPWM
uniprot
proteins
disease_involvement
DISEASE: Mucopolysaccharidosis 6 (MPS6) [MIM:253200]: 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. MPS6 is an autosomal recessive form characterized by intracellular accumulation of dermatan sulfate. Clinical features can include abnormal growth, short stature, stiff joints, skeletal malformations, corneal clouding, hepatosplenomegaly, and cardiac abnormalities. {ECO:0000269|PubMed:10036316, ECO:0000269|PubMed:10738004, ECO:0000269|PubMed:11802522, ECO:0000269|PubMed:14974081, ECO:0000269|PubMed:1550123, ECO:0000269|PubMed:1718978, ECO:0000269|PubMed:19259130, ECO:0000269|PubMed:8116615, ECO:0000269|PubMed:8125475, ECO:0000269|PubMed:8541342, ECO:0000269|PubMed:8651289}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Multiple sulfatase deficiency (MSD) [MIM:272200]: A clinically and biochemically heterogeneous disorder caused by the simultaneous impairment of all sulfatases, due to defective post-translational modification and activation. It combines features of individual sulfatase deficiencies such as metachromatic leukodystrophy, mucopolysaccharidosis, chondrodysplasia punctata, hydrocephalus, ichthyosis, neurologic deterioration and developmental delay. {ECO:0000269|PubMed:15146462}. Note=The protein represented in this entry is involved in disease pathogenesis. Arylsulfatase B activity is impaired in multiple sulfatase deficiency due to mutations in SUMF1. SUMF1 mutations result in defective post-translational modification of ARSB at residue Cys-91 that is not converted to 3-oxoalanine.
uniprot
proteins
ec_number
3.1.6.12
uniprot
proteins
function
FUNCTION: Removes sulfate groups from chondroitin-4-sulfate (C4S) and regulates its degradation (PubMed:19306108). Involved in the regulation of cell adhesion, cell migration and invasion in colonic epithelium (PubMed:19306108). In the central nervous system, is a regulator of neurite outgrowth and neuronal plasticity, acting through the control of sulfate glycosaminoglycans and neurocan levels (By similarity). {ECO:0000250|UniProtKB:P50430, ECO:0000269|PubMed:19306108}.
uniprot
proteins
mass_dalton
59687
uniprot
proteins
post_translational_modification
PTM: The conversion to 3-oxoalanine (also known as C-formylglycine, FGly), of a serine or cysteine residue in prokaryotes and of a cysteine residue in eukaryotes, is critical for catalytic activity. This post-translational modification is severely defective in multiple sulfatase deficiency (MSD). {ECO:0000269|PubMed:7628016}.
uniprot
proteins
protein_family
Sulfatase family
uniprot
proteins
pubmed
10036316
uniprot
proteins
pubmed
10206678
uniprot
proteins
pubmed
10738004
uniprot
proteins
pubmed
11802522
uniprot
proteins
pubmed
1390929
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
14974081
uniprot
proteins
pubmed
15146462
uniprot
proteins
pubmed
15372022
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
1550123
uniprot
proteins
pubmed
1718978
uniprot
proteins
pubmed
19159218
uniprot
proteins
pubmed
19259130
uniprot
proteins
pubmed
1930244
uniprot
proteins
pubmed
19306108
uniprot
proteins
pubmed
1968043
uniprot
proteins
pubmed
2303452
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
7628016
uniprot
proteins
pubmed
7687847
uniprot
proteins
pubmed
8116615
uniprot
proteins
pubmed
8125475
uniprot
proteins
pubmed
8541342
uniprot
proteins
pubmed
8651289
uniprot
proteins
pubmed
9032078
uniprot
proteins
pubmed
9582121
uniprot
proteins
sequence_length
533
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Lysosome {ECO:0000250|UniProtKB:P50429}. Cell surface {ECO:0000250|UniProtKB:P50429}.
uniprot
proteins