Human Gene GNS (uc001ssg.4) Description and Page Index
  Description: Homo sapiens glucosamine (N-acetyl)-6-sulfatase (GNS), mRNA.
RefSeq Summary (NM_002076): The product of this gene is a lysosomal enzyme found in all cells. It is involved in the catabolism of heparin, heparan sulphate, and keratan sulphate. Deficiency of this enzyme results in the accumulation of undegraded substrate and the lysosomal storage disorder mucopolysaccharidosis type IIID (Sanfilippo D syndrome). Mucopolysaccharidosis type IIID is the least common of the four subtypes of Sanfilippo syndrome. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1803617.55744.1, SRR1803616.138171.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000258145.8/ ENSP00000258145.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END##
Transcript (Including UTRs)
   Position: hg19 chr12:65,107,222-65,153,226 Size: 46,005 Total Exon Count: 14 Strand: -
Coding Region
   Position: hg19 chr12:65,110,521-65,153,056 Size: 42,536 Coding Exon Count: 14 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesGeneReviewsModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr12:65,107,222-65,153,226)mRNA (may differ from genome)Protein (552 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMGI
neXtProtOMIMPubMedReactomeStanford SOURCETreefam
UniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: GNS_HUMAN
DESCRIPTION: RecName: Full=N-acetylglucosamine-6-sulfatase; EC=3.1.6.14; AltName: Full=Glucosamine-6-sulfatase; Short=G6S; Flags: Precursor;
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 calcium ion per subunit (By similarity).
INTERACTION: P16333:NCK1; NbExp=2; IntAct=EBI-1752200, EBI-389883;
SUBCELLULAR LOCATION: Lysosome.
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 (By similarity).
DISEASE: Defects in GNS are the cause of mucopolysaccharidosis type 3D (MPS3D) [MIM:252940]; also known as Sanfilippo D syndrome. MPS3D is 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.
SIMILARITY: Belongs to the sulfatase family.
WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/GNS";

-  MalaCards Disease Associations
  MalaCards Gene Search: GNS
Diseases sorted by gene-association score: mucopolysaccharidosis type iiid* (1692), mucopolysaccharidosis iii (15), mucopolysaccharidosis-plus syndrome (9), multiple sulfatase deficiency (5)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 148.12 RPKM in Adrenal Gland
Total median expression: 1376.23 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -56.30170-0.331 Picture PostScript Text
3' UTR -1009.533299-0.306 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR017849 - Alkaline_Pase-like_a/b/a
IPR017850 - Alkaline_phosphatase_core
IPR012251 - GlcNAc_6-SO4ase
IPR015981 - GlcNAc_6-SO4ase_euk
IPR000917 - Sulfatase
IPR024607 - Sulfatase_CS

Pfam Domains:
PF00884 - Sulfatase

SCOP Domains:
53649 - Alkaline phosphatase-like

ModBase Predicted Comparative 3D Structure on P15586
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologGenome BrowserGenome BrowserNo orthologNo ortholog
Gene Details  Gene Details  
Gene Sorter  Gene Sorter  
  EnsemblFlyBase  
  Protein SequenceProtein Sequence  
  AlignmentAlignment  

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003824 catalytic activity
GO:0005515 protein binding
GO:0008449 N-acetylglucosamine-6-sulfatase activity
GO:0008484 sulfuric ester hydrolase activity
GO:0016787 hydrolase activity
GO:0046872 metal ion binding

Biological Process:
GO:0006027 glycosaminoglycan catabolic process
GO:0008152 metabolic process
GO:0030203 glycosaminoglycan metabolic process
GO:0042340 keratan sulfate catabolic process
GO:0043312 neutrophil degranulation

Cellular Component:
GO:0005576 extracellular region
GO:0005764 lysosome
GO:0035578 azurophil granule lumen
GO:0043202 lysosomal lumen
GO:0070062 extracellular exosome
GO:1904813 ficolin-1-rich granule lumen


-  Descriptions from all associated GenBank mRNAs
  LF208909 - JP 2014500723-A/16412: Polycomb-Associated Non-Coding RNAs.
BX537363 - Homo sapiens mRNA; cDNA DKFZp686E12166 (from clone DKFZp686E12166).
AK296759 - Homo sapiens cDNA FLJ50982 complete cds, highly similar to N-acetylglucosamine-6-sulfatase precursor (EC 3.1.6.14).
Z12173 - H.sapiens GNS mRNA encoding glucosamine-6-sulphatase.
AK291771 - Homo sapiens cDNA FLJ75883 complete cds, highly similar to Homo sapiens glucosamine (N-acetyl)-6-sulfatase (Sanfilippo disease IIID) (GNS), mRNA.
BC012482 - Homo sapiens glucosamine (N-acetyl)-6-sulfatase, mRNA (cDNA clone MGC:21274 IMAGE:4515104), complete cds.
AK304158 - Homo sapiens cDNA FLJ51188 complete cds, highly similar to N-acetylglucosamine-6-sulfatase precursor (EC3.1.6.14).
AK302443 - Homo sapiens cDNA FLJ54262 complete cds, highly similar to N-acetylglucosamine-6-sulfatase precursor (EC 3.1.6.14).
AK300350 - Homo sapiens cDNA FLJ51090 complete cds, highly similar to N-acetylglucosamine-6-sulfatase precursor (EC 3.1.6.14).
AK223484 - Homo sapiens mRNA for glucosamine (N-acetyl)-6-sulfatase precursor variant, clone: FCC119D08.
JF432208 - Synthetic construct Homo sapiens clone IMAGE:100073372 glucosamine (N-acetyl)-6-sulfatase (GNS) gene, encodes complete protein.
KJ891270 - Synthetic construct Homo sapiens clone ccsbBroadEn_00664 GNS gene, encodes complete protein.
KU178097 - Homo sapiens glucosamine -6-sulfatase isoform 1 (GNS) mRNA, partial cds.
KU178098 - Homo sapiens glucosamine -6-sulfatase isoform 2 (GNS) mRNA, partial cds, alternatively spliced.
AK308094 - Homo sapiens cDNA, FLJ98042.
AK308454 - Homo sapiens cDNA, FLJ98402.
CU680338 - Synthetic construct Homo sapiens gateway clone IMAGE:100019847 5' read GNS mRNA.
MA444486 - JP 2018138019-A/16412: Polycomb-Associated Non-Coding RNAs.
JD019075 - Sequence 99 from Patent EP1572962.
BC017742 - Homo sapiens glucosamine (N-acetyl)-6-sulfatase (Sanfilippo disease IIID), mRNA (cDNA clone IMAGE:4391536), partial cds.
AK054660 - Homo sapiens cDNA FLJ30098 fis, clone BNGH41000088.
LF324012 - JP 2014500723-A/131515: Polycomb-Associated Non-Coding RNAs.
LF324011 - JP 2014500723-A/131514: Polycomb-Associated Non-Coding RNAs.
JD346675 - Sequence 327699 from Patent EP1572962.
JD414967 - Sequence 395991 from Patent EP1572962.
JD160963 - Sequence 141987 from Patent EP1572962.
JD527562 - Sequence 508586 from Patent EP1572962.
JD291161 - Sequence 272185 from Patent EP1572962.
JD358548 - Sequence 339572 from Patent EP1572962.
JD143020 - Sequence 124044 from Patent EP1572962.
JD492126 - Sequence 473150 from Patent EP1572962.
JD492125 - Sequence 473149 from Patent EP1572962.
JD546541 - Sequence 527565 from Patent EP1572962.
JD160960 - Sequence 141984 from Patent EP1572962.
JD546540 - Sequence 527564 from Patent EP1572962.
LF324010 - JP 2014500723-A/131513: Polycomb-Associated Non-Coding RNAs.
LF324009 - JP 2014500723-A/131512: Polycomb-Associated Non-Coding RNAs.
DL492318 - Novel nucleic acids.
DL490810 - Novel nucleic acids.
DQ578222 - Homo sapiens piRNA piR-46334, complete sequence.
LF324008 - JP 2014500723-A/131511: Polycomb-Associated Non-Coding RNAs.
BC038967 - Homo sapiens glucosamine (N-acetyl)-6-sulfatase, mRNA (cDNA clone IMAGE:4402980), with apparent retained intron.
LF324007 - JP 2014500723-A/131510: Polycomb-Associated Non-Coding RNAs.
JD213178 - Sequence 194202 from Patent EP1572962.
JD407611 - Sequence 388635 from Patent EP1572962.
JD256803 - Sequence 237827 from Patent EP1572962.
JD367519 - Sequence 348543 from Patent EP1572962.
JD213176 - Sequence 194200 from Patent EP1572962.
JD413768 - Sequence 394792 from Patent EP1572962.
JD213177 - Sequence 194201 from Patent EP1572962.
LF324006 - JP 2014500723-A/131509: Polycomb-Associated Non-Coding RNAs.
DQ596050 - Homo sapiens piRNA piR-34116, complete sequence.
LF324005 - JP 2014500723-A/131508: Polycomb-Associated Non-Coding RNAs.
JD430755 - Sequence 411779 from Patent EP1572962.
DL491732 - Novel nucleic acids.
JD113265 - Sequence 94289 from Patent EP1572962.
DL490312 - Novel nucleic acids.
JD279915 - Sequence 260939 from Patent EP1572962.
JD315693 - Sequence 296717 from Patent EP1572962.
JD361724 - Sequence 342748 from Patent EP1572962.
JD162077 - Sequence 143101 from Patent EP1572962.
LF324004 - JP 2014500723-A/131507: Polycomb-Associated Non-Coding RNAs.
JD174999 - Sequence 156023 from Patent EP1572962.
JD160479 - Sequence 141503 from Patent EP1572962.
JD377148 - Sequence 358172 from Patent EP1572962.
LF324003 - JP 2014500723-A/131506: Polycomb-Associated Non-Coding RNAs.
LF324002 - JP 2014500723-A/131505: Polycomb-Associated Non-Coding RNAs.
LF324001 - JP 2014500723-A/131504: Polycomb-Associated Non-Coding RNAs.
LF324000 - JP 2014500723-A/131503: Polycomb-Associated Non-Coding RNAs.
LF323999 - JP 2014500723-A/131502: Polycomb-Associated Non-Coding RNAs.
LF323997 - JP 2014500723-A/131500: Polycomb-Associated Non-Coding RNAs.
DQ571947 - Homo sapiens piRNA piR-40059, complete sequence.
LF323996 - JP 2014500723-A/131499: Polycomb-Associated Non-Coding RNAs.
LF323995 - JP 2014500723-A/131498: Polycomb-Associated Non-Coding RNAs.
MA559589 - JP 2018138019-A/131515: Polycomb-Associated Non-Coding RNAs.
MA559588 - JP 2018138019-A/131514: Polycomb-Associated Non-Coding RNAs.
MA559587 - JP 2018138019-A/131513: Polycomb-Associated Non-Coding RNAs.
MA559586 - JP 2018138019-A/131512: Polycomb-Associated Non-Coding RNAs.
MA559585 - JP 2018138019-A/131511: Polycomb-Associated Non-Coding RNAs.
MA559584 - JP 2018138019-A/131510: Polycomb-Associated Non-Coding RNAs.
MA559583 - JP 2018138019-A/131509: Polycomb-Associated Non-Coding RNAs.
MA559582 - JP 2018138019-A/131508: Polycomb-Associated Non-Coding RNAs.
MA559581 - JP 2018138019-A/131507: Polycomb-Associated Non-Coding RNAs.
MA559580 - JP 2018138019-A/131506: Polycomb-Associated Non-Coding RNAs.
MA559579 - JP 2018138019-A/131505: Polycomb-Associated Non-Coding RNAs.
MA559578 - JP 2018138019-A/131504: Polycomb-Associated Non-Coding RNAs.
MA559577 - JP 2018138019-A/131503: Polycomb-Associated Non-Coding RNAs.
MA559576 - JP 2018138019-A/131502: Polycomb-Associated Non-Coding RNAs.
MA559574 - JP 2018138019-A/131500: Polycomb-Associated Non-Coding RNAs.
MA559573 - JP 2018138019-A/131499: Polycomb-Associated Non-Coding RNAs.
MA559572 - JP 2018138019-A/131498: Polycomb-Associated Non-Coding RNAs.
JD147029 - Sequence 128053 from Patent EP1572962.
JD071268 - Sequence 52292 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00531 - Glycosaminoglycan degradation
hsa01100 - Metabolic pathways
hsa04142 - Lysosome

Reactome (by CSHL, EBI, and GO)

Protein P15586 (Reactome details) participates in the following event(s):

R-HSA-432688 trans-Golgi Network Derived Lysosomal Vesicle Uncoating
R-HSA-432712 Vamp And trans-Golgi Network AP-1 Binding Coupled With Cargo Capture On Lysosome Vesicle Destined Golgi Membrane
R-HSA-1638032 N-acetylglucosamine 6-sulfatase (GNS) hydrolyses 6-sulfate groups of the N-acetyl-D-glucosamine 6-sulfate units of keratan sulfate
R-HSA-6798751 Exocytosis of azurophil granule lumen proteins
R-HSA-6800434 Exocytosis of ficolin-rich granule lumen proteins
R-HSA-432707 trans-Golgi Network Lysosomal Vesicle Scission
R-HSA-432706 trans-Golgi Network Lysosome Vesicle Destined Membrane Coat Assembly
R-HSA-432720 Lysosome Vesicle Biogenesis
R-HSA-2022857 Keratan sulfate degradation
R-HSA-6798695 Neutrophil degranulation
R-HSA-421837 Clathrin derived vesicle budding
R-HSA-1638074 Keratan sulfate/keratin metabolism
R-HSA-168249 Innate Immune System
R-HSA-199992 trans-Golgi Network Vesicle Budding
R-HSA-1630316 Glycosaminoglycan metabolism
R-HSA-168256 Immune System
R-HSA-199991 Membrane Trafficking
R-HSA-71387 Metabolism of carbohydrates
R-HSA-5653656 Vesicle-mediated transport
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: GNS_HUMAN, NM_002076, NP_002067, P15586, Q53F05
UCSC ID: uc001ssg.4
RefSeq Accession: NM_002076
Protein: P15586 (aka GNS_HUMAN)
CCDS: CCDS8970.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene GNS:
mps3 (Mucopolysaccharidosis Type III)

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_002076.3
exon count: 14CDS single in 3' UTR: no RNA size: 5144
ORF size: 1659CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 3518.00frame shift in genome: no % Coverage: 99.69
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.