IDS
entrez
3423
canonical
uniprot
P22304
canonical
ensembl
ENSG00000010404
resolver
ensp
ENSP00000339801
resolver
ensp
ENSP00000359470
resolver
genesymbol
IDS
resolver
genesymbol_syn
SIDS
resolver
hgnc
HGNC:5389
resolver
uniprot
B4DGD7
resolver
uniprot
D3DWT4
resolver
uniprot
Q14604
resolver
uniprot
Q9BRM3
resolver
uniprot_entry
B4DGD7_HUMAN
resolver
uniprot_entry
IDS_HUMAN
resolver
uniprot_sec
D3DWT4
resolver
uniprot_sec
Q14604
resolver
uniprot_sec
Q9BRM3
resolver
amino_acid_sequence
MPPPRTGRGLLWLGLVLSSVCVALGSETQANSTTDALNVLLIIVDDLRPSLGCYGDKLVRSPNIDQLASHSLLFQNAFAQQAVCAPSRVSFLTGRRPDTTRLYDFNSYWRVHAGNFSTIPQYFKENGYVTMSVGKVFHPGISSNHTDDSPYSWSFPPYHPSSEKYENTKTCRGPDGELHANLLCPVDVLDVPEGTLPDKQSTEQAIQLLEKMKTSASPFFLAVGYHKPHIPFRYPKEFQKLYPLENITLAPDPEVPDGLPPVAYNPWMDIRQREDVQALNISVPYGPIPVDFQRKIRQSYFASVSYLDTQVGRLLSALDDLQLANSTIIAFTSDHGWALGEHGEWAKYSNFDVATHVPLIFYVPGRTASLPEAGEKLFPYLDPFDSASQLMEPGRQSMDLVELVSLFPTLAGLAGLQVPPRCPVPSFHVELCREGKNLLKHFRFRDLEEDPYLPGNPRELIAYSQYPRPSDIPQWNSDKPSLKDIKIMGYSIRTIDYRYTVWVGFNPDEFLANFSDIHAGELYFVDSDPLQDHNMYNDSQGGDLFQLLMP
uniprot
proteins
disease_involvement
DISEASE: Mucopolysaccharidosis 2 (MPS2) [MIM:309900]: An X-linked lysosomal storage disease characterized by intracellular accumulation of heparan sulfate and dermatan sulfate and their excretion in urine. Most children with MPS2 have a severe form with early somatic abnormalities including skeletal deformities, hepatosplenomegaly, and progressive cardiopulmonary deterioration. A prominent feature is neurological damage that presents as developmental delay and hyperactivity but progresses to intellectual disability and dementia. They die before 15 years of age, usually as a result of obstructive airway disease or cardiac failure. In contrast, those with a mild form of MPS2 may survive into adulthood, with attenuated somatic complications and often without intellectual disability. {ECO:0000269|PubMed:10215411, ECO:0000269|PubMed:10220152, ECO:0000269|PubMed:10447264, ECO:0000269|PubMed:10671065, ECO:0000269|PubMed:10838181, ECO:0000269|PubMed:11015461, ECO:0000269|PubMed:11683780, ECO:0000269|PubMed:11731225, ECO:0000269|PubMed:12655569, ECO:0000269|PubMed:12794697, ECO:0000269|PubMed:1284597, ECO:0000269|PubMed:1303211, ECO:0000269|PubMed:1639384, ECO:0000269|PubMed:16699754, ECO:0000269|PubMed:24780617, ECO:0000269|PubMed:7581397, ECO:0000269|PubMed:7599640, ECO:0000269|PubMed:7728156, ECO:0000269|PubMed:7866405, ECO:0000269|PubMed:7887413, ECO:0000269|PubMed:7981716, ECO:0000269|PubMed:8111411, ECO:0000269|PubMed:8281149, ECO:0000269|PubMed:8566953, ECO:0000269|PubMed:8664909, ECO:0000269|PubMed:8830188, ECO:0000269|PubMed:8940265, ECO:0000269|PubMed:9222763, ECO:0000269|PubMed:9266380, ECO:0000269|PubMed:9375851, ECO:0000269|PubMed:9452044, ECO:0000269|PubMed:9501270, ECO:0000269|PubMed:9660053, ECO:0000269|PubMed:9762601, ECO:0000269|PubMed:9875019, ECO:0000269|PubMed:9921913, ECO:0000269|PubMed:9950361}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.1.6.13
uniprot
proteins
function
FUNCTION: Lysosomal enzyme involved in the degradation pathway of dermatan sulfate and heparan sulfate. {ECO:0000269|PubMed:10838181, ECO:0000269|PubMed:11731225, ECO:0000269|PubMed:28593992}.
uniprot
proteins
mass_dalton
61873
uniprot
proteins
post_translational_modification
PTM: Synthesized as a 75-kDa precursor form in the endoplasmic reticulum (ER), and then processed by proteolytic cleavage through various intermediates to yield a 55-kDa mature form, with the release of an 18 kDa polypeptide. {ECO:0000269|PubMed:7626005}.; 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
10215411
uniprot
proteins
pubmed
10220152
uniprot
proteins
pubmed
10447264
uniprot
proteins
pubmed
10671065
uniprot
proteins
pubmed
10838181
uniprot
proteins
pubmed
11015461
uniprot
proteins
pubmed
11683780
uniprot
proteins
pubmed
11731225
uniprot
proteins
pubmed
12655569
uniprot
proteins
pubmed
12794697
uniprot
proteins
pubmed
1284597
uniprot
proteins
pubmed
1303211
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15772651
uniprot
proteins
pubmed
1639384
uniprot
proteins
pubmed
16699754
uniprot
proteins
pubmed
19159218
uniprot
proteins
pubmed
2122463
uniprot
proteins
pubmed
24780617
uniprot
proteins
pubmed
28593992
uniprot
proteins
pubmed
7581397
uniprot
proteins
pubmed
7599640
uniprot
proteins
pubmed
7626005
uniprot
proteins
pubmed
7728156
uniprot
proteins
pubmed
7866405
uniprot
proteins
pubmed
7887413
uniprot
proteins
pubmed
7981716
uniprot
proteins
pubmed
8111411
uniprot
proteins
pubmed
8244397
uniprot
proteins
pubmed
8281149
uniprot
proteins
pubmed
8490623
uniprot
proteins
pubmed
8530090
uniprot
proteins
pubmed
8566953
uniprot
proteins
pubmed
8664909
uniprot
proteins
pubmed
8717057
uniprot
proteins
pubmed
8830188
uniprot
proteins
pubmed
8940265
uniprot
proteins
pubmed
9222763
uniprot
proteins
pubmed
9266380
uniprot
proteins
pubmed
9375851
uniprot
proteins
pubmed
9452044
uniprot
proteins
pubmed
9501270
uniprot
proteins
pubmed
9660053
uniprot
proteins
pubmed
9762601
uniprot
proteins
pubmed
9875019
uniprot
proteins
pubmed
9921913
uniprot
proteins
pubmed
9950361
uniprot
proteins
sequence_length
550
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Lysosome {ECO:0000269|PubMed:10838181}.
uniprot
proteins