ARSE
entrez
415
canonical
uniprot
P51690
canonical
ensembl
ENSG00000157399
resolver
ensp
ENSP00000370526
resolver
ensp
ENSP00000438198
resolver
ensp
ENSP00000441417
resolver
ensp
ENSP00000500108
resolver
ensp
ENSP00000500220
resolver
ensp
ENSP00000500727
resolver
ensp
ENSP00000500778
resolver
ensp
ENSP00000507481
resolver
ensp
ENSP00000507604
resolver
ensp
ENSP00000507760
resolver
ensp
ENSP00000508156
resolver
ensp
ENSP00000508337
resolver
ensp
ENSP00000549271
resolver
ensp
ENSP00000549272
resolver
ensp
ENSP00000549273
resolver
ensp
ENSP00000549274
resolver
ensp
ENSP00000549278
resolver
ensp
ENSP00000638918
resolver
enst
ENST00000381134
resolver
enst
ENST00000540563
resolver
enst
ENST00000545496
resolver
enst
ENST00000672027
resolver
enst
ENST00000672761
resolver
enst
ENST00000673032
resolver
enst
ENST00000681963
resolver
enst
ENST00000682364
resolver
enst
ENST00000683290
resolver
enst
ENST00000684117
resolver
enst
ENST00000684738
resolver
enst
ENST00000879212
resolver
enst
ENST00000879213
resolver
enst
ENST00000879214
resolver
enst
ENST00000879215
resolver
enst
ENST00000879219
resolver
enst
ENST00000968859
resolver
genesymbol
ARSE
resolver
genesymbol
ARSL
resolver
genesymbol_syn
ARSE
resolver
hgnc
HGNC:719
resolver
uniprot
A0A5F9ZHX8
resolver
uniprot
A0A804HJF6
resolver
uniprot
A1L484
resolver
uniprot
B7Z1M0
resolver
uniprot
B7Z6V4
resolver
uniprot
F5GYY5
resolver
uniprot
F5H324
resolver
uniprot
Q53FT2
resolver
uniprot
Q53FU8
resolver
uniprot_entry
A0A5F9ZHX8_HUMAN
resolver
uniprot_entry
A0A804HJF6_HUMAN
resolver
uniprot_entry
A1L484_HUMAN
resolver
uniprot_entry
ARSL_HUMAN
resolver
uniprot_entry
B7Z1M0_HUMAN
resolver
uniprot_entry
B7Z6V4_HUMAN
resolver
uniprot_entry
F5GYY5_HUMAN
resolver
uniprot_entry
F5H324_HUMAN
resolver
uniprot_sec
Q53FT2
resolver
uniprot_sec
Q53FU8
resolver
activity_regulation
ACTIVITY REGULATION: Inhibited by millimolar concentrations of warfarin. {ECO:0000269|PubMed:7720070}.
uniprot
proteins
amino_acid_sequence
MLHLHHSCLCFRSWLPAMLAVLLSLAPSASSDISASRPNILLLMADDLGIGDIGCYGNNTMRTPNIDRLAEDGVKLTQHISAASLCTPSRAAFLTGRYPVRSGMVSSIGYRVLQWTGASGGLPTNETTFAKILKEKGYATGLIGKWHLGLNCESASDHCHHPLHHGFDHFYGMPFSLMGDCARWELSEKRVNLEQKLNFLFQVLALVALTLVAGKLTHLIPVSWMPVIWSALSAVLLLASSYFVGALIVHADCFLMRNHTITEQPMCFQRTTPLILQEVASFLKRNKHGPFLLFVSFLHVHIPLITMENFLGKSLHGLYGDNVEEMDWMVGRILDTLDVEGLSNSTLIYFTSDHGGSLENQLGNTQYGGWNGIYKGGKGMGGWEGGIRVPGIFRWPGVLPAGRVIGEPTSLMDVFPTVVRLAGGEVPQDRVIDGQDLLPLLLGTAQHSDHEFLMHYCERFLHAARWHQRDRGTMWKVHFVTPVFQPEGAGACYGRKVCPCFGEKVVHHDPPLLFDLSRDPSETHILTPASEPVFYQVMERVQQAVWEHQRTLSPVPLQLDRLGNIWRPWLQPCCGPFPLCWCLREDDPQ
uniprot
proteins
disease_involvement
DISEASE: Chondrodysplasia punctata 1, X-linked recessive (CDPX1) [MIM:302950]: A clinically and genetically heterogeneous disorder characterized by punctiform calcification of the bones. CDPX1 is a congenital defect of bone and cartilage development characterized by aberrant bone mineralization, severe underdevelopment of nasal cartilage, and distal phalangeal hypoplasia. This disease can also be induced by inhibition with the drug warfarin. {ECO:0000269|PubMed:12567415, ECO:0000269|PubMed:7720070, ECO:0000269|PubMed:9409863, ECO:0000269|PubMed:9497243}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.1.6.1
uniprot
proteins
function
FUNCTION: Exhibits arylsulfatase activity towards the artificial substrate 4-methylumbelliferyl sulfate (PubMed:7720070, PubMed:9497243). May be essential for the correct composition of cartilage and bone matrix during development (PubMed:7720070). Has no activity toward steroid sulfates (PubMed:7720070). {ECO:0000269|PubMed:7720070, ECO:0000269|PubMed:9497243}.
uniprot
proteins
mass_dalton
65669
uniprot
proteins
post_translational_modification
PTM: N-glycosylated. {ECO:0000269|PubMed:19159218}.; 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}.
uniprot
proteins
protein_family
Sulfatase family
uniprot
proteins
pubmed
12567415
uniprot
proteins
pubmed
19159218
uniprot
proteins
pubmed
7720070
uniprot
proteins
pubmed
9409863
uniprot
proteins
pubmed
9497243
uniprot
proteins
sequence_length
589
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Golgi apparatus, Golgi stack {ECO:0000269|PubMed:9497243}.
uniprot
proteins