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Aliases for NAGLU Gene

Aliases for NAGLU Gene

  • N-Acetylglucosaminidase, Alpha 2 3
  • N-Acetyl-Alpha-Glucosaminidase 3 4
  • MPS3B 3 6
  • NAG 3 4
  • Alpha-N-Acetylglucosaminidase 3
  • Sanfilippo Disease IIIB 2
  • EC 3.2.1.50 4
  • MPS-IIIB 3
  • UFHSD1 4
  • UFHSD 3

External Ids for NAGLU Gene

Previous GeneCards Identifiers for NAGLU Gene

  • GC17M040212
  • GC17M042827
  • GC17P040596
  • GC17P041061
  • GC17P037941
  • GC17P040687
  • GC17P036452

Summaries for NAGLU Gene

Entrez Gene Summary for NAGLU Gene

  • 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, Jul 2008]

GeneCards Summary for NAGLU Gene

NAGLU (N-Acetylglucosaminidase, Alpha) is a Protein Coding gene. Diseases associated with NAGLU include mucopolysaccharidosis type iiib and pyelonephritis. Among its related pathways are Disease and Lysosome. GO annotations related to this gene include alpha-N-acetylglucosaminidase activity.

UniProtKB/Swiss-Prot for NAGLU Gene

  • Involved in the degradation of heparan sulfate

Tocris Summary for NAGLU Gene

No data available for Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NAGLU Gene

Genomics for NAGLU Gene

Regulatory Elements for NAGLU Gene

Genomic Location for NAGLU Gene

Start:
42,535,933 bp from pter
End:
42,544,449 bp from pter
Size:
8,517 bases
Orientation:
Plus strand

Genomic View for NAGLU Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for NAGLU Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NAGLU Gene

Proteins for NAGLU Gene

  • Protein details for NAGLU Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P54802-ANAG_HUMAN
    Recommended name:
    Alpha-N-acetylglucosaminidase
    Protein Accession:
    P54802
    Secondary Accessions:

    Protein attributes for NAGLU Gene

    Size:
    743 amino acids
    Molecular mass:
    82266 Da
    Quaternary structure:
    • Monomer and homodimer

neXtProt entry for NAGLU Gene

Proteomics data for NAGLU Gene at MOPED

Post-translational modifications for NAGLU Gene

  • Ubiquitination at Lys59
  • Glycosylation at Asn261, Asn272, Asn435, Asn503, Asn526, and Asn532
  • Modification sites at PhosphoSitePlus

Other Protein References for NAGLU Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for NAGLU Gene

Domains for NAGLU Gene

Protein Domains for NAGLU Gene

Suggested Antigen Peptide Sequences for NAGLU Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with NAGLU: view

No data available for Gene Families and UniProtKB/Swiss-Prot for NAGLU Gene

Function for NAGLU Gene

Molecular function for NAGLU Gene

GENATLAS Biochemistry: acetyl-glucosaminidase,alpha-N,77/82kDa,lysosomal,acting on heparan sulfate,catalyzing the fifth step of degradation of glycosaminoglycans (mucopolysaccharides)
UniProtKB/Swiss-Prot CatalyticActivity: Hydrolysis of terminal non-reducing N-acetyl-D-glucosamine residues in N-acetyl-alpha-D-glucosaminides
UniProtKB/Swiss-Prot Function: Involved in the degradation of heparan sulfate

Enzyme Numbers (IUBMB) for NAGLU Gene

Gene Ontology (GO) - Molecular Function for NAGLU Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004561 alpha-N-acetylglucosaminidase activity IEA --
genes like me logo Genes that share ontologies with NAGLU: view
genes like me logo Genes that share phenotypes with NAGLU: view

Animal Models for NAGLU Gene

MGI Knock Outs for NAGLU:

No data available for miRNA , Transcription Factor Targeting and HOMER Transcription for NAGLU Gene

Localization for NAGLU Gene

Subcellular locations from UniProtKB/Swiss-Prot for NAGLU Gene

Lysosome.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for NAGLU Gene COMPARTMENTS Subcellular localization image for NAGLU gene
Compartment Confidence
lysosome 5
vacuole 5
endoplasmic reticulum 2
extracellular 2
cytoskeleton 1
golgi apparatus 1
mitochondrion 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for NAGLU Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005764 lysosome TAS 8650226
GO:0043202 lysosomal lumen TAS --
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with NAGLU: view

Pathways for NAGLU Gene

genes like me logo Genes that share pathways with NAGLU: view

Pathways by source for NAGLU Gene

Interacting Proteins for NAGLU Gene

Gene Ontology (GO) - Biological Process for NAGLU Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process TAS --
GO:0006027 glycosaminoglycan catabolic process TAS --
GO:0007040 lysosome organization IEA --
GO:0007399 nervous system development TAS 8650226
GO:0021680 cerebellar Purkinje cell layer development IEA --
genes like me logo Genes that share ontologies with NAGLU: view

Compounds for NAGLU Gene

(5) Tocris Compounds for NAGLU Gene

Compound Action Cas Number
(Z)-Pugnac O-GlcNAcase and beta-hexosaminidase inhibitor [132489-69-1]
Flurofamide Urease inhibitor [70788-28-2]
ML 348 Selective and reversible lysophospholipase 1 (LYPLA1) inhibitor [899713-86-1]
SCH 51344 Potent MTH1 inhibitor [171927-40-5]
WWL 70 Potent ABHD6 inhibitor [947669-91-2]

(2) HMDB Compounds for NAGLU Gene

Compound Synonyms Cas Number PubMed IDs
N-Acetyl-D-glucosamine
  • 2-(acetylamino)-2-deoxyhexose
7512-17-6
Water
  • Dihydrogen oxide
7732-18-5

(1) Drugbank Compounds for NAGLU Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
N-Acetyl-D-glucosamine
  • 2-Acetamido-2-deoxy-D-glucose
7512-17-6 target activator

(115) Novoseek inferred chemical compound relationships for NAGLU Gene

Compound -log(P) Hits PubMed IDs
vra-glcnac 88.9 1
creatinine 85.3 190
iopentol 73 2
cadmium 62.2 75
heparan sulfate 58.2 18
genes like me logo Genes that share compounds with NAGLU: view

Transcripts for NAGLU Gene

Unigene Clusters for NAGLU Gene

N-acetylglucosaminidase, alpha:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for NAGLU Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6a · 6b · 6c
SP1:
SP2:
SP3: -

Relevant External Links for NAGLU Gene

GeneLoc Exon Structure for
NAGLU
ECgene alternative splicing isoforms for
NAGLU

Expression for NAGLU Gene

mRNA expression in normal human tissues for NAGLU Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for NAGLU Gene

SOURCE GeneReport for Unigene cluster for NAGLU Gene Hs.50727

mRNA Expression by UniProt/SwissProt for NAGLU Gene

P54802-ANAG_HUMAN
Tissue specificity: Liver, ovary, peripheral blood leukocytes, testis, prostate, spleen, colon, lung, placenta and kidney
genes like me logo Genes that share expressions with NAGLU: view

No data available for mRNA differential expression in normal tissues for NAGLU Gene

Orthologs for NAGLU Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for NAGLU Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NAGLU 35
  • 99.69 (n)
  • 99.87 (a)
NAGLU 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia NAGLU 35
  • 82.69 (n)
  • 81.71 (a)
NAGLU 36
  • 86 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NAGLU 35
  • 87.34 (n)
  • 86.44 (a)
NAGLU 36
  • 85 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Naglu 35
  • 84.17 (n)
  • 83.79 (a)
Naglu 16
Naglu 36
  • 83 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Naglu 35
  • 84.07 (n)
  • 83.07 (a)
lizard
(Anolis carolinensis)
Reptilia NAGLU 36
  • 60 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.21322 35
tropical clawed frog
(Silurana tropicalis)
Amphibia naglu 35
  • 63.41 (n)
  • 59.77 (a)
Str.3226 35
zebrafish
(Danio rerio)
Actinopterygii naglu 35
  • 62.08 (n)
  • 59.57 (a)
naglu 36
  • 56 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011750 35
  • 51.15 (n)
  • 43.82 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG13397 35
  • 51.87 (n)
  • 43.95 (a)
CG13397 36
  • 38 (a)
OneToOne
ESTS:172F5T 37
  • 41 (a)
worm
(Caenorhabditis elegans)
Secernentea K09E4.4 36
  • 32 (a)
OneToOne
K09E4.4 37
  • 35 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons CYL1 35
  • 49.45 (n)
  • 43.15 (a)
Species with no ortholog for NAGLU:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for NAGLU Gene

ENSEMBL:
Gene Tree for NAGLU (if available)
TreeFam:
Gene Tree for NAGLU (if available)

Paralogs for NAGLU Gene

Selected SIMAP similar genes for NAGLU Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with NAGLU: view

No data available for Paralogs for NAGLU Gene

Variants for NAGLU Gene

Sequence variations from dbSNP and Humsavar for NAGLU Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type MAF
rs86312 Benign, - 42,544,215(+) ACCCC(A/C/G)GCTGG missense, reference
rs630539 -- 42,541,326(+) TACTT(C/T)ATAGT intron-variant
rs659497 Benign 42,537,437(+) TACTC(C/T)TTCGT synonymous-codon, reference, utr-variant-5-prime, intron-variant
rs683344 -- 42,544,732(+) accac(A/G)ccagg downstream-variant-500B
rs684214 -- 42,544,897(+) acgcc(C/T)ggcta downstream-variant-500B

Structural Variations from Database of Genomic Variants (DGV) for NAGLU Gene

Variant ID Type Subtype PubMed ID
nsv908249 CNV Loss 21882294
dgv3172n71 CNV Loss 21882294
esv33998 OTHER Inversion 15654335
nsv908255 CNV Loss 21882294
esv30001 CNV Loss 17803354

Relevant External Links for NAGLU Gene

HapMap Linkage Disequilibrium report
NAGLU
Human Gene Mutation Database (HGMD)
NAGLU

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NAGLU Gene

Disorders for NAGLU Gene

(1) OMIM Diseases for NAGLU Gene (609701)

UniProtKB/Swiss-Prot

ANAG_HUMAN
  • Mucopolysaccharidosis 3B (MPS3B) [MIM:252920]: 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. {ECO:0000269 PubMed:10094189, ECO:0000269 PubMed:11068184, ECO:0000269 PubMed:11153910, ECO:0000269 PubMed:11286389, ECO:0000269 PubMed:11793481, ECO:0000269 PubMed:11836372, ECO:0000269 PubMed:12202988, ECO:0000269 PubMed:14984474, ECO:0000269 PubMed:15933803, ECO:0000269 PubMed:16151907, ECO:0000269 PubMed:9443875, ECO:0000269 PubMed:9443878, ECO:0000269 PubMed:9832037, ECO:0000269 PubMed:9950362}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for NAGLU Gene

(92) Novoseek inferred disease relationships for NAGLU Gene

Disease -log(P) Hits PubMed IDs
sanfilippos syndrome 90.5 26
mps iii b 87.6 3
mucopolysaccharidosis 80.9 20
microalbuminuria 74.8 44
proteinuria 74.7 70
genes like me logo Genes that share disorders with NAGLU: view

Publications for NAGLU Gene

  1. Cloning and expression of the gene involved in Sanfilippo B syndrome (mucopolysaccharidosis III B). (PMID: 8776591) Weber B. … Hopwood J.J. (Hum. Mol. Genet. 1996) 3 4 23
  2. NAGLU mutations underlying Sanfilippo syndrome type B. (PMID: 9443878) Schmidtchen A. … Neufeld E.F. (Am. J. Hum. Genet. 1998) 3 4 23
  3. Sanfilippo type B syndrome (mucopolysaccharidosis III B): allelic heterogeneity corresponds to the wide spectrum of clinical phenotypes. (PMID: 10094189) Weber B. … Hopwood J.J. (Eur. J. Hum. Genet. 1999) 3 4 23
  4. The molecular basis of Sanfilippo syndrome type B. (PMID: 8650226) Zhao H.G. … Neufeld E.F. (Proc. Natl. Acad. Sci. U.S.A. 1996) 3 4 23
  5. Sanfilippo type B syndrome: five patients with an R565P homozygous mutation in the alpha-N-acetylglucosaminidase gene from the Okinawa islands in Japan. (PMID: 15933803) Chinen Y. … Ohta T. (J. Hum. Genet. 2005) 3 4 23

Products for NAGLU Gene

Sources for NAGLU Gene

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