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Details on Person UniProt:P15586 GNS

Class:IdReferenceGeneProduct:55660
_chainChangeLogsignal peptide:1-36 added on Sat February 7 2015;chain:37-552 added on Sat February 7 2015
_displayNameUniProt:P15586 GNS
_timestamp2025-05-21 21:55:41
chainsignal peptide:1-36
chain:37-552
checksum85094043F6E64468
commentFUNCTION Hydrolyzes 6-sulfate groups in N-acetyl-d-glucosaminide units of heparin sulfate and keratan sulfate.CATALYTIC ACTIVITY Hydrolysis of the 6-sulfate groups of the N-acetyl-D-glucosamine 6-sulfate units of heparan sulfate and keratan sulfate.COFACTOR Binds 1 Ca(2+) ion per subunit.BIOPHYSICOCHEMICAL PROPERTIES Optimum pH is 4.8.INTERACTION 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.DISEASE The disease is caused by variants affecting the gene represented in this entry.SIMILARITY Belongs to the sulfatase family.
descriptionrecommendedName: N-acetylglucosamine-6-sulfatase ecNumber evidence="6"3.1.6.14 alternativeName: fullName evidence="9"Glucosamine-6-sulfatase shortName evidence="9"G6S
geneNameGNS
identifierP15586
isSequenceChangedFALSE
keywordAlternative splicing
Calcium
Direct protein sequencing
Disease variant
Glycoprotein
Hydrolase
Lysosome
Metal-binding
Mucopolysaccharidosis
Phosphoprotein
Proteomics identification
Reference proteome
Signal
modified[InstanceEdit:9836292] Weiser, Joel, 2023-05-25
[InstanceEdit:9852000] Weiser, Joel, 2023-11-03
[InstanceEdit:9926675] Weiser, Joel, 2024-11-03
[InstanceEdit:9948485] Weiser, Joel, 2025-05-21
nameGNS
referenceDatabase[ReferenceDatabase:2] UniProt
referenceGene[ReferenceDNASequence:8991873] ENSEMBL:ENSG00000135677 GNS [Homo sapiens]
secondaryIdentifierGNS_HUMAN
B4DYH8
Q53F05
sequenceLength552
species[Species:48887] Homo sapiens
(isoformParent)[ReferenceIsoform:8971456] UniProt:P15586-1 GNS [Homo sapiens]
[ReferenceIsoform:8971457] UniProt:P15586-2 GNS [Homo sapiens]
(referenceEntity)[EntityWithAccessionedSequence:434208] GNS [lysosomal lumen] [Homo sapiens]
[EntityWithAccessionedSequence:434323] GNS [Golgi lumen] [Homo sapiens]
[EntityWithAccessionedSequence:1638063] OxA-GNS [lysosomal lumen] [Homo sapiens]
[EntityWithAccessionedSequence:2245231] GNS Q390* [lysosomal lumen] [Homo sapiens]
[EntityWithAccessionedSequence:2245238] GNS R355* [lysosomal lumen] [Homo sapiens]
[EntityWithAccessionedSequence:2245243] GNS S94I [lysosomal lumen] [Homo sapiens]
[EntityWithAccessionedSequence:2245247] GNS Q272* [lysosomal lumen] [Homo sapiens]
[EntityWithAccessionedSequence:6799222] GNS [azurophil granule lumen] [Homo sapiens]
[EntityWithAccessionedSequence:6800961] GNS [ficolin-1-rich granule lumen] [Homo sapiens]
[EntityWithAccessionedSequence:6806208] GNS [extracellular region] [Homo sapiens]
(referenceSequence)[ModifiedResidue:1638033] L-3-oxoalanine (Ser) at 91
[NonsenseMutation:2245241] Nonsense mutation at L-glutamine 390
[NonsenseMutation:2245244] Nonsense mutation at L-glutamine 272
[NonsenseMutation:2245246] Nonsense mutation at L-arginine 355
[ReplacedResidue:2245248] L-serine 94 replaced with L-isoleucine
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No pathways have been reviewed or authored by UniProt:P15586 GNS (55660)