Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

N-acetylglucosamine-6-sulfatase

Gene

GNS

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Catalytic activityi

Hydrolysis of the 6-sulfate groups of the N-acetyl-D-glucosamine 6-sulfate units of heparan sulfate and keratan sulfate.

Cofactori

Ca2+By similarityNote: Binds 1 Ca2+ ion per subunit.By similarity

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Metal bindingi55CalciumBy similarity1
Metal bindingi56CalciumBy similarity1
Active sitei91NucleophileBy similarity1
Metal bindingi91Calcium; via 3-oxoalanineBy similarity1
Metal bindingi326CalciumBy similarity1
Metal bindingi327CalciumBy similarity1

GO - Molecular functioni

GO - Biological processi

  • glycosaminoglycan catabolic process Source: ProtInc
  • keratan sulfate catabolic process Source: Reactome
  • neutrophil degranulation Source: Reactome

Keywordsi

Molecular functionHydrolase
LigandCalcium, Metal-binding

Enzyme and pathway databases

BioCyciMetaCyc:HS06046-MONOMER
BRENDAi3.1.6.14 2681
ReactomeiR-HSA-2022857 Keratan sulfate degradation
R-HSA-2206305 MPS IIID - Sanfilippo syndrome D
R-HSA-432720 Lysosome Vesicle Biogenesis
R-HSA-6798695 Neutrophil degranulation
SABIO-RKP15586

Names & Taxonomyi

Protein namesi
Recommended name:
N-acetylglucosamine-6-sulfatase (EC:3.1.6.14)
Alternative name(s):
Glucosamine-6-sulfatase
Short name:
G6S
Gene namesi
Name:GNS
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 12

Organism-specific databases

EuPathDBiHostDB:ENSG00000135677.10
HGNCiHGNC:4422 GNS
MIMi607664 gene
neXtProtiNX_P15586

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Lysosome

Pathology & Biotechi

Involvement in diseasei

Mucopolysaccharidosis 3D (MPS3D)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:252940
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06407094S → I in MPS3D. 1 Publication1
Natural variantiVAR_064071304 – 306Missing in MPS3D. 1 Publication3
Natural variantiVAR_064072340K → R in MPS3D. 1 Publication1
Natural variantiVAR_064073418G → E in MPS3D. 1 Publication1

Keywords - Diseasei

Disease mutation, Mucopolysaccharidosis

Organism-specific databases

DisGeNETi2799
MalaCardsiGNS
MIMi252940 phenotype
OpenTargetsiENSG00000135677
Orphaneti79272 Sanfilippo syndrome type D
PharmGKBiPA28802

Polymorphism and mutation databases

BioMutaiGNS
DMDMi232126

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 36Add BLAST36
ChainiPRO_000003341337 – 552N-acetylglucosamine-6-sulfataseAdd BLAST516

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei913-oxoalanine (Cys)By similarity1
Glycosylationi111N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi117N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi183N-linked (GlcNAc...) asparagine2 Publications1
Glycosylationi198N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi210N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi279N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi317N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi362N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi387N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi405N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi422N-linked (GlcNAc...) asparagine2 Publications1
Glycosylationi449N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi480N-linked (GlcNAc...) asparagineSequence analysis1
Modified residuei541PhosphoserineCombined sources1

Post-translational modificationi

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.
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.By similarity

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

EPDiP15586
MaxQBiP15586
PaxDbiP15586
PeptideAtlasiP15586
PRIDEiP15586

PTM databases

GlyConnecti796
iPTMnetiP15586
PhosphoSitePlusiP15586
UniCarbKBiP15586

Expressioni

Gene expression databases

BgeeiENSG00000135677
CleanExiHS_GNS
ExpressionAtlasiP15586 baseline and differential
GenevisibleiP15586 HS

Organism-specific databases

HPAiCAB026011
HPA013695
HPA048508

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
NCK1P163332EBI-1752200,EBI-389883

Protein-protein interaction databases

BioGridi109061, 34 interactors
IntActiP15586, 14 interactors
MINTiP15586
STRINGi9606.ENSP00000258145

Structurei

3D structure databases

ProteinModelPortaliP15586
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the sulfatase family.Curated

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiKOG3731 Eukaryota
COG3119 LUCA
GeneTreeiENSGT00400000022041
HOGENOMiHOG000169239
HOVERGENiHBG005840
InParanoidiP15586
KOiK01137
PhylomeDBiP15586
TreeFamiTF313545

Family and domain databases

Gene3Di3.40.720.10, 1 hit
InterProiView protein in InterPro
IPR017849 Alkaline_Pase-like_a/b/a
IPR017850 Alkaline_phosphatase_core_sf
IPR012251 GlcNAc_6-SO4ase
IPR015981 GlcNAc_6-SO4ase_met
IPR024607 Sulfatase_CS
IPR000917 Sulfatase_N
PANTHERiPTHR43108:SF5 PTHR43108:SF5, 1 hit
PfamiView protein in Pfam
PF00884 Sulfatase, 1 hit
PIRSFiPIRSF036666 G6S, 1 hit
SUPFAMiSSF53649 SSF53649, 2 hits
PROSITEiView protein in PROSITE
PS00523 SULFATASE_1, 1 hit
PS00149 SULFATASE_2, 1 hit

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: P15586-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MRLLPLAPGR LRRGSPRHLP SCSPALLLLV LGGCLGVFGV AAGTRRPNVV
60 70 80 90 100
LLLTDDQDEV LGGMTPLKKT KALIGEMGMT FSSAYVPSAL CCPSRASILT
110 120 130 140 150
GKYPHNHHVV NNTLEGNCSS KSWQKIQEPN TFPAILRSMC GYQTFFAGKY
160 170 180 190 200
LNEYGAPDAG GLEHVPLGWS YWYALEKNSK YYNYTLSING KARKHGENYS
210 220 230 240 250
VDYLTDVLAN VSLDFLDYKS NFEPFFMMIA TPAPHSPWTA APQYQKAFQN
260 270 280 290 300
VFAPRNKNFN IHGTNKHWLI RQAKTPMTNS SIQFLDNAFR KRWQTLLSVD
310 320 330 340 350
DLVEKLVKRL EFTGELNNTY IFYTSDNGYH TGQFSLPIDK RQLYEFDIKV
360 370 380 390 400
PLLVRGPGIK PNQTSKMLVA NIDLGPTILD IAGYDLNKTQ MDGMSLLPIL
410 420 430 440 450
RGASNLTWRS DVLVEYQGEG RNVTDPTCPS LSPGVSQCFP DCVCEDAYNN
460 470 480 490 500
TYACVRTMSA LWNLQYCEFD DQEVFVEVYN LTADPDQITN IAKTIDPELL
510 520 530 540 550
GKMNYRLMML QSCSGPTCRT PGVFDPGYRF DPRLMFSNRG SVRTRRFSKH

LL
Length:552
Mass (Da):62,082
Last modified:April 1, 1993 - v3
Checksum:i85094043F6E64468
GO
Isoform 2 (identifier: P15586-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     65-84: Missing.

Note: No experimental confirmation available.
Show »
Length:532
Mass (Da):59,989
Checksum:i8D6E2305AB5BBF85
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti252F → C in BAD97204 (Ref. 3) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06407094S → I in MPS3D. 1 Publication1
Natural variantiVAR_064071304 – 306Missing in MPS3D. 1 Publication3
Natural variantiVAR_064072340K → R in MPS3D. 1 Publication1
Natural variantiVAR_064073418G → E in MPS3D. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_05648665 – 84Missing in isoform 2. 1 PublicationAdd BLAST20

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
Z12173 mRNA Translation: CAA78164.1
AK302443 mRNA Translation: BAG63740.1
AK223484 mRNA Translation: BAD97204.1
AC025262 Genomic DNA No translation available.
BC012482 mRNA Translation: AAH12482.1
CCDSiCCDS8970.1 [P15586-1]
PIRiS27164 KJHUGU
RefSeqiNP_002067.1, NM_002076.3 [P15586-1]
UniGeneiHs.334534

Genome annotation databases

EnsembliENST00000258145; ENSP00000258145; ENSG00000135677 [P15586-1]
ENST00000542058; ENSP00000444819; ENSG00000135677 [P15586-2]
GeneIDi2799
KEGGihsa:2799
UCSCiuc001ssg.5 human [P15586-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiGNS_HUMAN
AccessioniPrimary (citable) accession number: P15586
Secondary accession number(s): B4DYH8, Q53F05
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 1, 1990
Last sequence update: April 1, 1993
Last modified: April 25, 2018
This is version 172 of the entry and version 3 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Direct protein sequencing, Reference proteome

Cookie policy

We would like to use anonymized google analytics cookies to gather statistics on how uniprot.org is used in aggregate. Learn more

UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health