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Protein

N-acetylglucosamine-6-sulfatase

Gene

GNS

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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
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
Complete GO annotation...

Keywords - Molecular functioni

Hydrolase

Keywords - Ligandi

Calcium, Metal-binding

Enzyme and pathway databases

BioCyciMetaCyc:HS06046-MONOMER.
ZFISH:HS06046-MONOMER.
BRENDAi3.1.6.14. 2681.
ReactomeiR-HSA-2022857. Keratan sulfate degradation.
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

HGNCiHGNC:4422. GNS.

Subcellular locationi

GO - Cellular componenti

  • extracellular exosome Source: UniProtKB
  • lysosomal lumen Source: Reactome
Complete GO annotation...

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...)Sequence analysis1
Glycosylationi117N-linked (GlcNAc...)Sequence analysis1
Glycosylationi183N-linked (GlcNAc...)2 Publications1
Glycosylationi198N-linked (GlcNAc...)Sequence analysis1
Glycosylationi210N-linked (GlcNAc...)Sequence analysis1
Glycosylationi279N-linked (GlcNAc...)1 Publication1
Glycosylationi317N-linked (GlcNAc...)1 Publication1
Glycosylationi362N-linked (GlcNAc...)Sequence analysis1
Glycosylationi387N-linked (GlcNAc...)1 Publication1
Glycosylationi405N-linked (GlcNAc...)Sequence analysis1
Glycosylationi422N-linked (GlcNAc...)2 Publications1
Glycosylationi449N-linked (GlcNAc...)Sequence analysis1
Glycosylationi480N-linked (GlcNAc...)Sequence 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

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. 33 interactors.
IntActiP15586. 14 interactors.
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. 3 hits.
InterProiIPR017849. Alkaline_Pase-like_a/b/a.
IPR017850. Alkaline_phosphatase_core.
IPR012251. GlcNAc_6-SO4ase.
IPR015981. GlcNAc_6-SO4ase_euk.
IPR024607. Sulfatase_CS.
IPR000917. Sulfatase_N.
[Graphical view]
PANTHERiPTHR10342:SF212. PTHR10342:SF212. 1 hit.
PfamiPF00884. Sulfatase. 1 hit.
[Graphical view]
PIRSFiPIRSF036666. G6S. 1 hit.
SUPFAMiSSF53649. SSF53649. 2 hits.
PROSITEiPS00523. SULFATASE_1. 1 hit.
PS00149. SULFATASE_2. 1 hit.
[Graphical view]

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
Natural variantiVAR_064074550H → Q.Corresponds to variant rs2230292dbSNPEnsembl.1

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

Cross-referencesi

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.

3D structure databases

ProteinModelPortaliP15586.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi109061. 33 interactors.
IntActiP15586. 14 interactors.
STRINGi9606.ENSP00000258145.

PTM databases

iPTMnetiP15586.
PhosphoSitePlusiP15586.
UniCarbKBiP15586.

Polymorphism and mutation databases

BioMutaiGNS.
DMDMi232126.

Proteomic databases

EPDiP15586.
MaxQBiP15586.
PaxDbiP15586.
PeptideAtlasiP15586.
PRIDEiP15586.

Protocols and materials databases

DNASUi2799.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi2799.
DisGeNETi2799.
GeneCardsiGNS.
H-InvDBHIX0010785.
HGNCiHGNC:4422. GNS.
HPAiCAB026011.
HPA013695.
HPA048508.
MalaCardsiGNS.
MIMi252940. phenotype.
607664. gene.
neXtProtiNX_P15586.
OpenTargetsiENSG00000135677.
Orphaneti79272. Sanfilippo syndrome type D.
PharmGKBiPA28802.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3731. Eukaryota.
COG3119. LUCA.
GeneTreeiENSGT00400000022041.
HOGENOMiHOG000169239.
HOVERGENiHBG005840.
InParanoidiP15586.
KOiK01137.
PhylomeDBiP15586.
TreeFamiTF313545.

Enzyme and pathway databases

BioCyciMetaCyc:HS06046-MONOMER.
ZFISH:HS06046-MONOMER.
BRENDAi3.1.6.14. 2681.
ReactomeiR-HSA-2022857. Keratan sulfate degradation.
R-HSA-432720. Lysosome Vesicle Biogenesis.
R-HSA-6798695. Neutrophil degranulation.
SABIO-RKP15586.

Miscellaneous databases

ChiTaRSiGNS. human.
GenomeRNAii2799.
PROiP15586.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000135677.
CleanExiHS_GNS.
ExpressionAtlasiP15586. baseline and differential.
GenevisibleiP15586. HS.

Family and domain databases

Gene3Di3.40.720.10. 3 hits.
InterProiIPR017849. Alkaline_Pase-like_a/b/a.
IPR017850. Alkaline_phosphatase_core.
IPR012251. GlcNAc_6-SO4ase.
IPR015981. GlcNAc_6-SO4ase_euk.
IPR024607. Sulfatase_CS.
IPR000917. Sulfatase_N.
[Graphical view]
PANTHERiPTHR10342:SF212. PTHR10342:SF212. 1 hit.
PfamiPF00884. Sulfatase. 1 hit.
[Graphical view]
PIRSFiPIRSF036666. G6S. 1 hit.
SUPFAMiSSF53649. SSF53649. 2 hits.
PROSITEiPS00523. SULFATASE_1. 1 hit.
PS00149. SULFATASE_2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiGNS_HUMAN
AccessioniPrimary (citable) accession number: P15586
Secondary accession number(s): B4DYH8, Q53F05
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 1, 1990
Last sequence update: April 1, 1993
Last modified: November 30, 2016
This is version 160 of the entry and version 3 of the sequence. [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

Documents

  1. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.