SGSH
entrez
6448
canonical
uniprot
P51688
canonical
ensembl
ENSG00000181523
resolver
ensp
ENSP00000314606
resolver
ensp
ENSP00000674476
resolver
ensp
ENSP00000674480
resolver
ensp
ENSP00000697916
resolver
enst
ENST00000326317
resolver
genesymbol
SGSH
resolver
genesymbol_syn
HSS
resolver
hgnc
HGNC:10818
resolver
uniprot
A8K5E2
resolver
uniprot_entry
SPHM_HUMAN
resolver
uniprot_sec
A8K5E2
resolver
amino_acid_sequence
MSCPVPACCALLLVLGLCRARPRNALLLLADDGGFESGAYNNSAIATPHLDALARRSLLFRNAFTSVSSCSPSRASLLTGLPQHQNGMYGLHQDVHHFNSFDKVRSLPLLLSQAGVRTGIIGKKHVGPETVYPFDFAYTEENGSVLQVGRNITRIKLLVRKFLQTQDDRPFFLYVAFHDPHRCGHSQPQYGTFCEKFGNGESGMGRIPDWTPQAYDPLDVLVPYFVPNTPAARADLAAQYTTVGRMDQGVGLVLQELRDAGVLNDTLVIFTSDNGIPFPSGRTNLYWPGTAEPLLVSSPEHPKRWGQVSEAYVSLLDLTPTILDWFSIPYPSYAIFGSKTIHLTGRSLLPALEAEPLWATVFGSQSHHEVTMSYPMRSVQHRHFRLVHNLNFKMPFPIDQDFYVSPTFQDLLNRTTAGQPTGWYKDLRHYYYRARWELYDRSRDPHETQNLATDPRFAQLLEMLRDQLAKWQWETHDPWVCAPDGVLEEKLSPQCQPLHNEL
uniprot
proteins
disease_involvement
DISEASE: Mucopolysaccharidosis 3A (MPS3A) [MIM:252900]: A severe form of mucopolysaccharidosis type 3, an autosomal recessive lysosomal storage disease due to impaired degradation of heparan sulfate. MPS3 is characterized by severe central nervous system degeneration, but only mild somatic disease. Onset of clinical features usually occurs between 2 and 6 years; severe neurologic degeneration occurs in most patients between 6 and 10 years of age, and death occurs typically during the second or third decade of life. MPS3A is characterized by earlier onset, rapid progression of symptoms and shorter survival. {ECO:0000269|PubMed:11182930, ECO:0000269|PubMed:11793481, ECO:0000269|PubMed:12000360, ECO:0000269|PubMed:12702166, ECO:0000269|PubMed:15146460, ECO:0000269|PubMed:15637719, ECO:0000269|PubMed:15902564, ECO:0000269|PubMed:16311287, ECO:0000269|PubMed:17128482, ECO:0000269|PubMed:18407553, ECO:0000269|PubMed:21671382, ECO:0000269|PubMed:28101780, ECO:0000269|PubMed:9158154, ECO:0000269|PubMed:9285796, ECO:0000269|PubMed:9401012, ECO:0000269|PubMed:9554748, ECO:0000269|PubMed:9744479}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.10.1.1
uniprot
proteins
function
FUNCTION: Catalyzes a step in lysosomal heparan sulfate degradation. {ECO:0000269|PubMed:15146460, ECO:0000269|PubMed:24816101, ECO:0000269|PubMed:7493035}.
uniprot
proteins
mass_dalton
56695
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. {ECO:0000269|PubMed:24816101}.
uniprot
proteins
protein_family
Sulfatase family
uniprot
proteins
pubmed
11182930
uniprot
proteins
pubmed
11793481
uniprot
proteins
pubmed
12000360
uniprot
proteins
pubmed
12702166
uniprot
proteins
pubmed
12754519
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15146460
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15637719
uniprot
proteins
pubmed
15902564
uniprot
proteins
pubmed
16311287
uniprot
proteins
pubmed
17128482
uniprot
proteins
pubmed
18407553
uniprot
proteins
pubmed
19159218
uniprot
proteins
pubmed
21671382
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
24816101
uniprot
proteins
pubmed
28101780
uniprot
proteins
pubmed
7493035
uniprot
proteins
pubmed
9158154
uniprot
proteins
pubmed
9285796
uniprot
proteins
pubmed
9401012
uniprot
proteins
pubmed
9554748
uniprot
proteins
pubmed
9744479
uniprot
proteins
sequence_length
502
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Lysosome {ECO:0000269|PubMed:15146460}.
uniprot
proteins