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Aliases & Descriptions for NAGLU
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase) About This Section
|
| Aliases |
|---|
| EC 3.2.1.50 3 | | MPS-IIIB 2 | | MPS3B 2 | | N-acetyl-alpha-glucosaminidase 2, 3 | | NAG 1, 2, 3 | | UFHSD 2 | | UFHSD1 3 | | alpha-N-acetylglucosaminidase 2 |
| | | Descriptions |
|---|
| N-acetylglucosaminidase, alpha- 2 |
|
| | Search outside databases for aliases for NAGLU genePrevious GC identifers: GC17M040212 GC17M042827 GC17P040596 GC17P041061 |
Summaries for NAGLU(According to Entrez Gene,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| EntrezGene summary for NAGLU: This gene encodes an enzyme that degrades heparan sulfate by hydrolysis of terminal N-acetyl-D-glucosamine residues in N-acetyl-alpha-D-glucosaminides. Defects in this gene are the cause of mucopolysaccharidosis type IIIB (MPS-IIIB), also known as Sanfilippo syndrome B. This disease is characterized by the lysosomal accumulation and urinary excretion of heparan sulfate. [provided by RefSeq] UniProtKB/Swiss-Prot: ANAG_HUMAN, P54802Function: Involved in the degradation of heparan sulfate |
Genomic Location for NAGLU
(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 NAGLU gene 
Entrez Gene cytogenetic band: 17q21 Ensembl cytogenetic band: 17q21.31 HGNC cytogenetic band: 17q11-q21NAGLU 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 17 GeneLoc Exon Structure GeneLoc location for GC17P037941:
(about GC identifiers)
Start:
|
37,941,477 bp from pter |
End:
|
37,949,993 bp from pter |
Size:
|
8,517 bases |
Orientation:
|
plus strand |
RefSeq DNA sequence:- NC_000017.9 NT_010755.15
| Proteins for NAGLU
(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: ANAG_HUMAN, P54802 (See
protein sequence)Recommended Name: Alpha-N-acetylglucosaminidase precursor Size: 743 amino acids; 82167 Da
Subunit: Monomer and homodimer
Caution: A MPS3B mutation at position 100 was erroneously reported (PubMed:9950362) as an amino acid change from Arg to His. The right amino acid change is from His to ArgREFSEQ proteins: NP_000254.2
ENSEMBL proteins: ENSP00000366622 ENSP00000225927
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): About this table
Antibodies for NAGLU: Assays for NAGLU: | Protein
Domains/ Families for NAGLU(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 P54802
ProtoNet protein and cluster: P54802 | Gene Function for NAGLU
(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_000263
Applied Biosystems Silencer® siRNAs for NAGLU
Sigma-Aldrich siRNA and siRNA Panels for NAGLU  Sigma-Aldrich shRNA for NAGLU  Explore Sigma-Aldrich super-pooled esiRNAs 
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_000263                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_000263                                  untagged cDNA clone in CMV expression vector: NM_000263 
Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_000263
UniProtKB/Swiss-Prot: ANAG_HUMAN, P54802Function: Involved in the degradation of heparan sulfateCatalytic activity: Hydrolysis of terminal non-reducing N-acetyl-D-glucosamine residues in N-acetyl-alpha-D-glucosaminidesEnzyme Number (IUBMB): EC 3.2.1.50 Genatlas biochemistry entry for NAGLU:acetyl-glucosaminidase,alpha-N,77/82kDa,lysosomal,acting on heparan sulfate,catalyzing the fifth step of degradation of glycosaminoglycans (mucopolysaccharides)15 MGI mutant phenotypes (inferred from 1 allele ) (MGI details for Naglu):
2 Gene Ontology (GO) molecular function terms (links to tree view): | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0004561 | alpha-N-acetylglucosaminidase activity |
TAS | 8650226 | | GO:0016798 | hydrolase activity, acting on glycosyl bonds |
IEA | -- | About this table | Pathways & Interactions for NAGLU
(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
| 2 Sigma-Aldrich "Your Favorite Gene" Pathways for NAGLU (Your Favorite Gene powered by Ingenuity) 
5/16 Interacting proteins for NAGLU (ENSP000002259273) via UniProtKB, MINT, and/or STRING (see all 16
)About this table
3 Gene Ontology (GO) biological process terms (links to tree view): About this table
|
Drugs & Compounds for NAGLU(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
|
Compounds for NAGLU available from Tocris Bioscience
| Compound | Action |
CAS
number |
|---|
| (Z)-Pugnac | O-GlcNAcase and beta-hexosaminidase inhibitor | [132489-69-1] | About this table
10/61 Novoseek chemical compound relationships for NAGLU gene (see all 61
)
| Compound |
Score |
Articles |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| vra-glcnac |
89.18 |
1 |
1610104 (1) |
| cadmium |
61.51 |
119 |
2403983 (5), 1463395 (4), 9037804 (4), 1587629 (4) (see all 35) |
| heparan sulfate |
53.46 |
19 |
10588735 (2), 10094189 (1), 11136549 (1), 11578848 (1) (see all 14) |
| uric acid |
43.33 |
28 |
18063857 (5), 11847525 (3), 15626645 (3), 7768579 (2) (see all 12) |
| mercury |
41.27 |
20 |
14653309 (4), 7753757 (3), 18684440 (2), 15130443 (2) (see all 9) |
| lead |
40.82 |
41 |
8141178 (4), 17497640 (4), 9037804 (3), 2391405 (3) (see all 14) |
| inulin |
39.65 |
5 |
1988713 (1), 8675159 (1), 15769882 (1), 1583405 (1) (see all 5) |
| sodium |
39.62 |
29 |
11847525 (2), 1678405 (2), 9002297 (2), 15565439 (1) (see all 21) |
| malondialdehyde |
36.15 |
20 |
15565439 (3), 14665375 (2), 16538044 (2), 17541572 (1) (see all 7) |
| 1,3-dichloropropene |
34.95 |
4 |
8243412 (2) |
About this table
|
Transcripts for NAGLU(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_000263
Sigma-Aldrich siRNA and siRNA Panels for NAGLU  Sigma-Aldrich shRNA for NAGLU  Explore Sigma-Aldrich super-pooled esiRNAs 
Applied Biosystems Silencer® siRNAs: NM_000263 REFSEQ mRNAs for NAGLU gene: NM_000263.3
Applied Biosystems TaqMan ® Gene Expression Assays: NM_000263               OriGene GFP tagged cDNA clone in CMV expression vector: NM_000263                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_000263                                  untagged cDNA clone in CMV expression vector: NM_000263  Additional cDNA sequence: BC053991.1 CR623854.1 L78464.1 U40846.1 U43573.1 11 DOTS entries: DT.120973669 DT.413876 DT.100749425 DT.97817493 DT.75184455 DT.100749424 DT.100749426 DT.120973622 DT.120973645 DT.120973709 DT.95368263 24/163 AceView cDNA sequences (see all 163
):BM710066 BQ012348 BM773017 BF346260 AU279934 NM_000263 CR623854 L78464 AW205580 BF435029 BM752987 BM716556 BM746456 AU118592 BQ893829 CB268477 BQ012843 BC053991 U43573 BM711369 AI973061 BM772104 AI417417 BM745799
highest scoring ESTs for NAGLU:U43573 BQ683563 BQ935423 CB153101 AA613718 AB209530 AI299657 AI758095 BM989126 T98509 Unigene Cluster for NAGLU: N-acetylglucosaminidase, alpha- Hs.50727 [show with all ESTs]Unigene Representative Sequence: NM_000263
GeneLoc Exon Structure
3 Alternative Splicing Database (ASD) splice patterns (SP) for NAGLU
| ExUns: | 1 | ^ | 2 | ^ | 3a | · | 3b | ^ | 4 | ^ | 5a | · | 5b | ^ | 6a | · | 6b | · | 6c | |
| SP1: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP2: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP3: | |   | |   | |   | |   | |   | |   | |   | - |   | |   | |   |
About this scheme
ECgene alternative splicing isoforms for NAGLU
2 Ensembl transcripts including schematic representations: ENST00000377405
ENST00000225927
|
Expression for NAGLU
(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
| NAGLU expression in normal and diseased human tissues
Applied Biosystems TaqMan ® Gene Expression Assays for NAGLU
1 / 2 / 3 3 probe-sets matching NAGLU gene Data from
(Publications) and GNF BioGPS About these images About these images
CGAP SAGE TAG: GCTGAGCTGG
SOURCE GeneReport for Unigene cluster: Hs.50727
Expression variation in blood from EXPOLDB for NAGLU UniProtKB/Swiss-Prot: ANAG_HUMAN, P54802Tissue specificity: Liver, ovary, peripheral blood leukocytes, testis, prostrate, spleen, colon, lung, placenta and kidney |
Orthologs for NAGLU
(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 NAGLU gene from 5/13 species (see all 13
)
About this table Species with no ortholog for NAGLU
ENSEMBL Gene Tree for NAGLU | Paralogs for NAGLU(Paralogs according to 1HomoloGene and 2Ensembl, Pseudogenes according to 3Pseudogene.org) About This Section
| -- |
SNPs/Variants for NAGLU(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 NAGLU (up to first 250kb)
|
Disorders & Mutations for NAGLU
(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: 609701 disorders: 252920 UniProtKB/Swiss-Prot: ANAG_HUMAN, P54802
Defects in NAGLU are the cause of mucopolysaccharidosis type 3B (MPS3B) [MIM:252920]; also known as Sanfilippo syndrome B. MPS3B 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 life10/93 Novoseek disease relationships for NAGLU gene (see all 93
)
| Disease |
Score |
Articles |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| sanfilippos syndrome |
89.25 |
24 |
10588735 (3), 9443878 (2), 19399896 (2), 9443875 (1) (see all 17) |
| mps iii b |
86.02 |
3 |
11136549 (1), 16401642 (1), 19399896 (1) |
| mucopolysaccharidosis |
77.71 |
20 |
11068184 (2), 9443875 (1), 10094189 (1), 11237686 (1) (see all 14) |
| microalbuminuria |
74.72 |
44 |
9612904 (4), 15330557 (4), 12368574 (4), 2150050 (2) (see all 27) |
| proteinuria |
74.40 |
68 |
12401843 (6), 15503426 (4), 15714179 (4), 12900807 (4) (see all 37) |
| albuminuria |
72.44 |
19 |
1837508 (2), 8998811 (2), 1533771 (2), 9861409 (2) (see all 14) |
| renal disease |
72.38 |
56 |
1962647 (4), 8739282 (3), 2342652 (3), 2150050 (2) (see all 40) |
| diabetic nephropathies |
68.80 |
33 |
1350771 (5), 1685160 (2), 7669872 (2), 9436372 (2) (see all 18) |
| mps iiia |
65.06 |
1 |
11793481 (1) |
| toxicity renal |
61.17 |
2 |
9061418 (1), 17306939 (1) |
About this table
Human Gene Mutation Database: NAGLU
|
Medical News for NAGLU(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications for NAGLU (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
| 10/553 PubMed articles for NAGLU gene (see all 553
):- Mucopolysaccharidosis type IIIB: characterisation and expression of wild-type and mutant recombinant alpha-N-acetylglucosaminidase and relationship with sanfilippo phenotype in an attenuated patient. (PubMed id 11068184)1, 3, 4 Yogalingam G.... Hopwood J.J. (2000)
- NAGLU mutations underlying Sanfilippo syndrome type B. (PubMed id 9443878)1, 3, 4 Schmidtchen A....Neufeld E.F. (1998)
- Sanfilippo type B syndrome: five patients with an R565P homozygous mutation in the alpha-N-acetylglucosaminidase gene from the Okinawa islands in Japan. (PubMed id 15933803)1, 3, 4 Chinen Y.... Ohta T. (2005)
- Sanfilippo syndrome in Turkey: Identification of novel mutations in subtypes A and B. (PubMed id 11793481)1, 3, 4 Emre S....Hopwood J.J. (2002)
- Sanfilippo type B syndrome (mucopolysaccharidosis III B): allelic heterogeneity corresponds to the wide spectrum of clinical phenotypes. (PubMed id 10094189)1, 3, 4 Weber B.... Hopwood J.J. (1999)
- The molecular basis of Sanfilippo syndrome type B. (PubMed id 8650226)1, 3, 4 Zhao H.G.... Neufeld E.F. (1996)
- Cloning and expression of the gene involved in Sanfilippo B syndrome (mucopolysaccharidosis III B). (PubMed id 8776591)1, 3, 4 Weber B.... Hopwood J.J. (1996)
- 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)
- Molecular analysis of the alpha-N-acetylglucosaminidase gene in seven Japanese patients from six unrelated families with mucopolysaccharidosis IIIB (Sanfilippo type B), including two novel mutations. (PubMed id 12202988)3, 4 Tanaka A.... Yamano T. (2002)
- Mucopolysaccharidosis type IIIB (Sanfilippo B): identification of 18 novel alpha-N-acetylglucosaminidase gene mutations. (PubMed id 9950362)3, 4 Bunge S.... Gal A. (1999)
|
Search for NAGLU
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing NAGLU
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
and/or
H-InvDB)
About This Section
|
| Other Databases showing NAGLU
(According to HUGE)
About This Section
| -- |
Specialized Databases showing NAGLU(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
|
| Name | Description |
| GeneReviews | http://www.genetests.org/query?gene=NAGLU |
|
| | | About This Section
| --
| Services for NAGLU(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 NAGLU:

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GeneCards Homepage - Last full update: 1 Jul 2009
Incremental update: 13 Oct 2009
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