GNS
entrez
2799
canonical
uniprot
P15586
canonical
ensembl
ENSG00000135677
resolver
ensp
ENSP00000258145
resolver
genesymbol
GNS
resolver
hgnc
HGNC:4422
resolver
uniprot
A0A024RBC5
resolver
uniprot
B4DYH8
resolver
uniprot
Q53F05
resolver
uniprot_entry
A0A024RBC5_HUMAN
resolver
uniprot_entry
GNS_HUMAN
resolver
uniprot_sec
B4DYH8
resolver
uniprot_sec
Q53F05
resolver
amino_acid_sequence
MRLLPLAPGRLRRGSPRHLPSCSPALLLLVLGGCLGVFGVAAGTRRPNVVLLLTDDQDEVLGGMTPLKKTKALIGEMGMTFSSAYVPSALCCPSRASILTGKYPHNHHVVNNTLEGNCSSKSWQKIQEPNTFPAILRSMCGYQTFFAGKYLNEYGAPDAGGLEHVPLGWSYWYALEKNSKYYNYTLSINGKARKHGENYSVDYLTDVLANVSLDFLDYKSNFEPFFMMIATPAPHSPWTAAPQYQKAFQNVFAPRNKNFNIHGTNKHWLIRQAKTPMTNSSIQFLDNAFRKRWQTLLSVDDLVEKLVKRLEFTGELNNTYIFYTSDNGYHTGQFSLPIDKRQLYEFDIKVPLLVRGPGIKPNQTSKMLVANIDLGPTILDIAGYDLNKTQMDGMSLLPILRGASNLTWRSDVLVEYQGEGRNVTDPTCPSLSPGVSQCFPDCVCEDAYNNTYACVRTMSALWNLQYCEFDDQEVFVEVYNLTADPDQITNIAKTIDPELLGKMNYRLMMLQSCSGPTCRTPGVFDPGYRFDPRLMFSNRGSVRTRRFSKHLL
uniprot
proteins
disease_involvement
DISEASE: Mucopolysaccharidosis 3D (MPS3D) [MIM:252940]: A 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. {ECO:0000269|PubMed:12573255, ECO:0000269|PubMed:20232353}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.1.6.14
uniprot
proteins
function
FUNCTION: Hydrolyzes 6-sulfate groups in N-acetyl-d-glucosaminide units of heparin sulfate and keratan sulfate. {ECO:0000269|PubMed:1463457}.
uniprot
proteins
mass_dalton
62082
uniprot
proteins
post_translational_modification
PTM: The form A (78 kDa) is processed by internal peptidase cleavage to a 32 kDa N-terminal species (form B) and a 48 kDa C-terminal species.; 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}.
uniprot
proteins
protein_family
Sulfatase family
uniprot
proteins
pubmed
12573255
uniprot
proteins
pubmed
12754519
uniprot
proteins
pubmed
1463457
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16541075
uniprot
proteins
pubmed
19159218
uniprot
proteins
pubmed
20232353
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
3196333
uniprot
proteins
sequence_length
552
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Lysosome.
uniprot
proteins