ARSG
entrez
22901
canonical
uniprot
Q96EG1
canonical
ensembl
ENSG00000141337
resolver
ensp
ENSP00000407193
resolver
ensp
ENSP00000413953
resolver
ensp
ENSP00000480910
resolver
ensp
ENSP00000666590
resolver
ensp
ENSP00000693913
resolver
ensp
ENSP00000748078
resolver
ensp
ENSP00000795455
resolver
enst
ENST00000448504
resolver
enst
ENST00000452479
resolver
enst
ENST00000621439
resolver
genesymbol
ARSG
resolver
genesymbol_syn
KIAA1001
resolver
hgnc
HGNC:24102
resolver
uniprot
J9JIG6
resolver
uniprot
Q6UXF2
resolver
uniprot
Q9Y2K4
resolver
uniprot_entry
ARSG_HUMAN
resolver
uniprot_entry
J9JIG6_HUMAN
resolver
uniprot_sec
Q6UXF2
resolver
uniprot_sec
Q9Y2K4
resolver
activity_regulation
ACTIVITY REGULATION: Inhibited by phosphate. The phosphate forms a covalent bond with the active site 3-oxoalanine. {ECO:0000269|PubMed:18283100}.
uniprot
proteins
amino_acid_sequence
MGWLFLKVLLAGVSFSGFLYPLVDFCISGKTRGQKPNFVIILADDMGWGDLGANWAETKDTANLDKMASEGMRFVDFHAAASTCSPSRASLLTGRLGLRNGVTRNFAVTSVGGLPLNETTLAEVLQQAGYVTGIIGKWHLGHHGSYHPNFRGFDYYFGIPYSHDMGCTDTPGYNHPPCPACPQGDGPSRNLQRDCYTDVALPLYENLNIVEQPVNLSSLAQKYAEKATQFIQRASTSGRPFLLYVALAHMHVPLPVTQLPAAPRGRSLYGAGLWEMDSLVGQIKDKVDHTVKENTFLWFTGDNGPWAQKCELAGSVGPFTGFWQTRQGGSPAKQTTWEGGHRVPALAYWPGRVPVNVTSTALLSVLDIFPTVVALAQASLPQGRRFDGVDVSEVLFGRSQPGHRVLFHPNSGAAGEFGALQTVRLERYKAFYITGGARACDGSTGPELQHKFPLIFNLEDDTAEAVPLERGGAEYQAVLPEVRKVLADVLQDIANDNISSADYTQDPSVTPCCNPYQIACRCQAA
uniprot
proteins
disease_involvement
DISEASE: Usher syndrome 4 (USH4) [MIM:618144]: A form of Usher syndrome, a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish different types of Usher syndrome. USH4 is characterized by late onset of retinitis pigmentosa and usually late-onset of progressive sensorineural hearing loss without vestibular involvement. USH4 inheritance is autosomal recessive. {ECO:0000269|PubMed:29300381}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.1.6.1
uniprot
proteins
ec_number
3.1.6.15
uniprot
proteins
function
FUNCTION: Displays arylsulfatase activity at acidic pH towards artificial substrates, such as p-nitrocatechol sulfate and also, but with a lower activity towards p-nitrophenyl sulfate and 4-methylumbelliferyl sulfate (PubMed:18283100, PubMed:29300381). Catalyzes the hydrolysis of the 3-sulfate groups of the N-sulfo-D-glucosamine 3-O-sulfate units of heparin (PubMed:22689975). {ECO:0000269|PubMed:18283100, ECO:0000269|PubMed:22689975, ECO:0000269|PubMed:29300381}.
uniprot
proteins
mass_dalton
57061
uniprot
proteins
mutagenesis
MUTAGEN 84; /note="C->A: No sulfatase activity."; /evidence="ECO:0000269|PubMed:18283100"; MUTAGEN 501; /note="A->P: Decrease of sulfatase activity."; /evidence="ECO:0000269|PubMed:18283100
uniprot
proteins
post_translational_modification
PTM: N-glycosylated (PubMed:18283100). N-glycosylated with both high mannose and complex type sugars (By similarity). {ECO:0000250|UniProtKB:Q3TYD4, ECO:0000269|PubMed:18283100}.; 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. {ECO:0000250|UniProtKB:P15289}.; PTM: The 63-kDa precursor undergoes proteolytic processing in two steps, yielding two fragments in the first step (apparent molecular masses of 44 and 18 kDa) (PubMed:25135642). In the second step, the 44-kDa fragment is processed further to the 34- and 10-kDa chains. The 10-kDa chain is a cleavage product of the 44-kDa fragment but linked to the 18-kDa chain through a disulfide bridge (PubMed:25135642). {ECO:0000269|PubMed:25135642}.
uniprot
proteins
protein_family
Sulfatase family
uniprot
proteins
pubmed
10231032
uniprot
proteins
pubmed
12461688
uniprot
proteins
pubmed
12975309
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
18283100
uniprot
proteins
pubmed
22689975
uniprot
proteins
pubmed
25135642
uniprot
proteins
pubmed
25825126
uniprot
proteins
pubmed
29300381
uniprot
proteins
sequence_length
525
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Lysosome {ECO:0000269|PubMed:12461688, ECO:0000269|PubMed:18283100}. Note=The 63-kDa precursor protein localizes to pre-lysosomal compartments and tightly associates with organelle membranes, most likely the endoplasmic reticulum. In contrast, proteolytically processed fragments of 34-, 18- and 10-kDa are found in lysosomal fractions and lose their membrane association. {ECO:0000250|UniProtKB:Q3TYD4}.
uniprot
proteins