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Aliases & Descriptions for GNS
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase) About This Section
|
| Aliases |
|---|
| EC 3.1.6.14 3 | | G6S 2, 3, 5 | | Glucosamine-6-sulfatase 3 | | MGC21274 2 | | N-acetylglucosamine-6-sulfatase 2 | | glucosamine-6-sulfatase 2 |
| | | Descriptions |
|---|
| glucosamine (N-acetyl)-6-sulfatase 2 |
|
| | Search outside databases for aliases for GNS genePrevious GC identifers: GC12M064570 GC12M065075 GC12M064823 GC12M063396 |
Summaries for GNS(According to Entrez Gene,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| EntrezGene summary for GNS: 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]
|
Genomic Location for GNS
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to
UCSC and
Ensembl,
Transcription factor binding sites according to
SABiosciences) About This Section
| Genomic View: UCSC Golden Path with GeneCards custom track
Transcription factor binding sites upstream to the GNS gene 
Entrez Gene cytogenetic band: 12q14 Ensembl cytogenetic band: 12q14.3 HGNC cytogenetic band: 12q14GNS Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)
 GeneLoc gene densities for chromosome 12 GeneLoc Exon Structure GeneLoc location for GC12M063393:
(about GC identifiers)
Start:
|
63,393,489 bp from pter |
End:
|
63,439,479 bp from pter |
Size:
|
45,991 bases |
Orientation:
|
minus strand |
RefSeq DNA sequence:- NC_000012.10 NT_029419.11
| Proteins for GNS
(According to
1UniProtKB,
and/or Ensembl,
Phosphorylation sites according to 2Phosphosite,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Enzo Life Sciences,
Abnova,
OriGene and/or,
Abcam,
Biochemical Assays by
Invitrogen,
Millipore,
R&D Systems,
Cell Signaling Technology, and/or
Enzo Life Sciences,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene,
Antibodies by Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Cell Signaling Technology,
Abcam,
Abnova, and/or
Novus Biologicals)
About This Section
| UniProtKB/Swiss-Prot: GNS_HUMAN, P15586 (See
protein sequence)Recommended Name: N-acetylglucosamine-6-sulfatase precursor Size: 552 amino acids; 62082 Da
Cofactor: Binds 1 calcium ion per subunit (By similarity)
Subcellular location: Lysosome
Secondary accessions: Q53F05Post-translational modifications:
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 species1
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)1
REFSEQ proteins: NP_002067.1
ENSEMBL proteins: ENSP00000258145
Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 
1 Gene Ontology (GO) cellular component term (links to tree view): | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005764 | lysosome |
IEA | -- | About this table
Antibodies for GNS: Assays for GNS: | Protein
Domains/ Families for GNS(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| - Graphical View of Domain Structure for InterPro Entry P15586
ProtoNet protein and cluster: P15586 1 Blocks protein family: IPB000917 Sulfatase
UniProtKB/Swiss-Prot: GNS_HUMAN, P15586Similarity: Belongs to the sulfatase family | Gene Function for GNS
(According to MGI Jun 06 2009, UniProtKB,
IUBMB,and/or Genatlas,
shRNA from
OriGene,
Sigma-Aldrich, RNAi from
Sigma-Aldrich,
RNAi Products,
Clones, and
Q-PCR Products
from Invitrogen,
Millipore,
OriGene, and/or
Abnova,
siRNAs from
Applied Biosystems,
SYBR primers from OriGene,
Cell-based Assays from Millipore,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_002076
Applied Biosystems Silencer® siRNAs for GNS
Sigma-Aldrich siRNA and siRNA Panels for GNS  Sigma-Aldrich shRNA for GNS  Explore Sigma-Aldrich super-pooled esiRNAs 
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_002076                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_002076                                  untagged cDNA clones in CMV expression vector (see all 2): BC017742 
Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_002076
UniProtKB/Swiss-Prot: GNS_HUMAN, P15586Catalytic activity: Hydrolysis of the 6-sulfate groups of the N-acetyl-D-glucosamine 6-sulfate units of heparan sulfate and keratan sulfateEnzyme Number (IUBMB): EC 3.1.6.14 Genatlas biochemistry entry for GNS:N-acetyl-glucosamine-6-sulfate sulfatase,lysosomal,acting an heparan sulfate,catalyzing the third step of degradation of glycosaminoglycans (mucopolysaccharides)4 Gene Ontology (GO) molecular function terms (links to tree view): About this table | Pathways & Interactions for GNS
(Pathways according to Invitrogen
(maps by GeneGo),
Millipore,
Cell Signaling Technology,
Sigma-Aldrich,
KEGG
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Proteins Network according to
SABiosciences,
Interactions according to 1UniProtKB,
2MINT, and/or
3STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
| 1 Sigma-Aldrich "Your Favorite Gene" Pathway for GNS (Your Favorite Gene powered by Ingenuity) 
5/18 Interacting proteins for GNS (P155861 ENSP000002581453) via UniProtKB, MINT, and/or STRING (see all 18
)About this table
2 Gene Ontology (GO) biological process terms (links to tree view): About this table
|
Drugs & Compounds for GNS(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
Sigma-Aldrich, Tocris Bioscience, and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB)
About This Section
|
Browse Tocris compounds for GNS 3 Novoseek chemical compound relationships for GNS gene
About this table
|
Transcripts for GNS(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank, RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
non coding RNAs according to
RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from Invitrogen,
Millipore, and/or
Abnova,
siRNAs from Applied Biosystems,
Sigma-Aldrich,
shRNA from
Sigma-Aldrich,
OriGene,
Tagged/untagged cDNA clones from
OriGene, Expression Assays from Applied Biosystems) About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_002076
Sigma-Aldrich siRNA and siRNA Panels for GNS  Sigma-Aldrich shRNA for GNS  Explore Sigma-Aldrich super-pooled esiRNAs 
Applied Biosystems Silencer® siRNAs: NM_002076 REFSEQ mRNAs for GNS gene: NM_002076.3
Applied Biosystems TaqMan ® Gene Expression Assays: NM_002076               OriGene GFP tagged cDNA clone in CMV expression vector: NM_002076                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_002076                                  untagged cDNA clones in CMV expression vector (see all 2): BC017742  Additional cDNA sequence: AK054660.1 AK223484.1 AK291771.1 AK296759.1 AK300350.1 AK302443.1 AK304158.1 AK308094.1 AK308454.1 BC012482.1 BC017742.1 BC038967.1 BX537363.1 CR596768.1 CR612218.1 CR612741.1 Z12173.1 14 DOTS entries: DT.110919 DT.100826734 DT.91683440 DT.100044684 DT.101970251 DT.75156904 DT.100879064 DT.91894358 DT.100826731 DT.121159941 DT.80100041 DT.91981391 DT.95139719 DT.95139720 24/374 AceView cDNA sequences (see all 374
):BG117145 AA903771 BE880245 CD368163 CA395868 Z40162 BU619065 BM553384 CA427061 BC012482 AI924212 CA432650 AA973968 BU860244 CR612741 AU122141 BU166029 W56627 CK000462 BX537363 CD675868 BU857038 AA631011 BM722624
highest scoring ESTs for GNS:Z12173 AA522891 AL548286 AL710718 AU077195 AU100259 AU133077 BC012482 BE819518 BG721679 Unigene Cluster for GNS: Glucosamine (N-acetyl)-6-sulfatase Hs.334534 [show with all ESTs]Unigene Representative Sequence: NM_002076
GeneLoc Exon Structure
5/6 Alternative Splicing Database (ASD) splice patterns (SP) for GNS (see all 6
)
| ExUns: | 1 | ^ | 2 | ^ | 3a | · | 3b | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8a | · | 8b | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12a | · | 12b | ^ | 13a | · | 13b | ^ | 14a | · | 14b | ^ | 15 | ^ | 16a | · | 16b | |
| SP1: | |   | - |   | - |   | - |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | - |   | |   | |   | - |   | |   | |   | |   | |   | |   | |
| SP2: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP3: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP4: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP5: | |   | |   | - |   | - |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   |
About this scheme
ECgene alternative splicing isoforms for GNS
1 Ensembl transcript including schematic representation: ENST00000258145
|
Expression for GNS
(Experimental results according to
1GeneNote
and GNF BioGPS,
probe sets-to-genes annotations according to
2GeneAnnot ,
3GeneTide ,
Sets of similar genes according to GeneDecks,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP,
plus additional links to
SOURCE, and/or
GNF
BioGPS, and/or
EXPOLDB, and/or
UniProtKB,
Expression Assays from
Applied Biosystems
)
About This Section
| GNS expression in normal and diseased human tissues
Applied Biosystems TaqMan ® Gene Expression Assays for GNS
1 / 2 / 3 10 probe-sets matching GNS gene Data from
(Publications) and GNF BioGPS About these images About these images
CGAP SAGE TAG: GAAGTTTTAC
SOURCE GeneReport for Unigene cluster: Hs.334534
Expression variation in blood from EXPOLDB for GNS |
Orthologs for GNS
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
and/or
5MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase,
Gene Trees according to Ensembl)
About This Section
|
Orthologs for GNS gene from 5/14 species (see all 14
)
About this table Species with no ortholog for GNS
ENSEMBL Gene Tree for GNS | Paralogs for GNS(Paralogs according to 1HomoloGene and 2Ensembl, Pseudogenes according to 3Pseudogene.org) About This Section
| Paralogs for GNS gene
- SULF12 ARSK2 SULF22
|
SNPs/Variants for GNS(According to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Genotyping Reagents from
Applied Biosystems)
About This Section
|
HapMap Linkage Disequilibrium images for GNS (up to first 250kb)
|
Disorders & Mutations for GNS
(in which this Gene is Involved, According to
OMIM, UniProtKB,
Novoseek, PharmGKB,
Genatlas, GeneTests,
Blood group antigen gene mutations by BGMUT,
HGMD, GAD,
HuGE Navigator,
BCGD,
and/or TGDB.)
About This Section
|
OMIM: 607664 disorders: 252940 UniProtKB/Swiss-Prot: GNS_HUMAN, P15586
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 life3 Novoseek disease relationships for GNS gene
About this table
Human Gene Mutation Database: GNS
|
Medical News for GNS(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications for GNS (in
PubMed.
Associations of this gene to articles via
1Novoseek,
2HGNC,
3Entrez Gene,
4UniProtKB/Swiss-Prot,
5UniProtKB/TrEMBL,
6GAD, and/or
7PharmGKB)
About This Section
| 10/31 PubMed articles for GNS gene (see all 31
):- Genomic basis of mucopolysaccharidosis type IIID (MIM 252940) revealed by sequencing of GNS encoding N-acetylglucosamine-6-sulfatase. (PubMed id 12573255)1, 3, 4 Mok A....Hegele R.A. (2003)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)3, 4 Gerhard D.S....Malek J. (2004)
- Identification and quantification of N-linked glycoproteins using hydrazide chemistry, stable isotope labeling and mass spectrometry. (PubMed id 12754519)3, 4 Zhang H.... Aebersold R. (2003)
- A cDNA clone for human glucosamine-6-sulphatase reveals differences between arylsulphatases and non-arylsulphatases. (PubMed id 1463457)3, 4 Robertson D.A.... Hopwood J.J. (1992)
- Human glucosamine-6-sulfatase cDNA reveals homology with steroid sulfatase. (PubMed id 3196333)3, 4 Robertson D.A.... Hopwood J.J. (1988)
- Sanfilippo syndrome type D: natural history and identification of 3 novel mutations in the GNS Gene. (PubMed id 17998446)1, 3 Jansen A.C....Andermann E. (2007)
- Morquio disease: isolation, characterization and expression of full- length cDNA for human N-acetylgalactosamine-6-sulfate sulfatase. (PubMed id 1755850)1, 3 Tomatsu S.... Orii T. (1991)
- Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry. (PubMed id 19159218)4 Chen R.... Zou H. (2009)
- Identification and characterisation of an 8.7 kb deletion and a novel nonsense mutation in two Italian families with Sanfilippo syndrome type D (mucopolysaccharidosis IIID). (PubMed id 16990043)3 Beesley C.E....Strisciuglio P. (2007)
- Systematic identification of SH3 domain-mediated human protein-protein interactions by peptide array target screening. (PubMed id 17474147)3 Wu C....Li S.S. (2007)
|
Search for GNS
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing GNS
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
and/or
H-InvDB)
About This Section
|
| Other Databases showing GNS
(According to HUGE)
About This Section
| -- |
Specialized Databases showing GNS(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL, Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot) About This Section
|
| About This Section
| --
| Services for GNS(Reagents available from Applied Biosystems, Antibodies and assays by Cell
Signaling Technology, Abcam, Novus Biologicals, Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich, Enzo Life Sciences, and/or Tocris Bioscience) About This Section
| 
 Products for GNS:

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| | Recombinant Proteins (GNS) | | Antibodies (GNS) |
| | | Search Tocris compounds for GNS |
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GeneCards Homepage - Last full update: 2 Jul 2009
Incremental update: 13 Oct 2009
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