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Aliases for NAGLU Gene

Aliases for NAGLU Gene

  • N-Acetylglucosaminidase, Alpha 2 3
  • N-Acetyl-Alpha-Glucosaminidase 3 4
  • NAG 3 4
  • Sanfilippo Disease IIIB 2
  • EC 3.2.1.50 4
  • MPS-IIIB 3
  • UFHSD1 4
  • MPS3B 3
  • 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 charcot-marie-tooth disease, axonal, type 2v. Among its related pathways are Metabolism and Glycosaminoglycan metabolism. 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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for NAGLU Gene

Chromosome:
17
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

    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 Lys 59
  • Glycosylation at Asn 261, Asn 272, Asn 435, Asn 503, Asn 526, and Asn 532
  • Modification sites at PhosphoSitePlus

Other Protein References for NAGLU Gene

Antibody Products

No data available for DME Specific Peptides for NAGLU Gene

Domains & Families 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:

Animal Model Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for NAGLU

In Situ Assay Products

Flow Cytometry Products

No data available for miRNA , Transcription Factor Targets 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
extracellular 5
lysosome 5
vacuole 5

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 & Interactions for NAGLU Gene

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

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

No data available for SIGNOR curated interactions for NAGLU Gene

Drugs & Compounds for NAGLU Gene

(66) Drugs for NAGLU Gene - From: NovoSeek, HMDB, DrugBank, and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
N-Acetyl-D-glucosamine Approved Nutra Target, activator 0
Aluminium Approved Pharma 0
Amikacin Approved Pharma 52
Aminolevulinic acid Approved Pharma 128
Aprotinin Approved, Withdrawn Pharma Inhibitor of bovine pancreatic trypsin 24

(56) Additional Compounds for NAGLU Gene - From: NovoSeek, HMDB, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Water
  • Dihydrogen oxide
  • Steam
7732-18-5
(Z)-Pugnac
132489-69-1
Flurofamide
70788-28-2
JW 480
1354359-53-7
SCH 51344
171927-40-5
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:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for NAGLU

Flow Cytometry Products

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

Protein differential expression in normal tissues from HIPED for NAGLU Gene

This gene is overexpressed in Urine (46.5) and Serum (8.7).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with NAGLU: view

Protein tissue co-expression partners for NAGLU Gene

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

In Situ Assay Products

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
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
chimpanzee
(Pan troglodytes)
Mammalia NAGLU 35
  • 99.69 (n)
  • 99.87 (a)
NAGLU 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Naglu 35
  • 84.07 (n)
  • 83.07 (a)
lizard
(Anolis carolinensis)
Reptilia NAGLU 36
  • 60 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia naglu 35
  • 63.41 (n)
  • 59.77 (a)
Str.3226 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.21322 35
zebrafish
(Danio rerio)
Actinopterygii naglu 35
  • 62.08 (n)
  • 59.57 (a)
naglu 36
  • 56 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta ESTS:172F5T 37
  • 41 (a)
CG13397 35
  • 51.87 (n)
  • 43.95 (a)
CG13397 36
  • 38 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011750 35
  • 51.15 (n)
  • 43.82 (a)
worm
(Caenorhabditis elegans)
Secernentea K09E4.4 37
  • 35 (a)
K09E4.4 36
  • 32 (a)
OneToOne
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

(1) 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/T)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
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

Variation tolerance for NAGLU Gene

Residual Variation Intolerance Score: 13.52% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.29; 53.11% of all genes are more intolerant (likely to be disease-causing)

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

MalaCards: The human disease database

(25) MalaCards diseases for NAGLU Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, NovoSeek, and GeneCards

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.

Relevant External Links for NAGLU

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NAGLU
genes like me logo Genes that share disorders with NAGLU: view

No data available for Genatlas for NAGLU Gene

Publications for NAGLU Gene

  1. Cadmium-exposed population in Mae Sot district, Tak province: 3. Associations between urinary cadmium and renal dysfunction, hypertension, diabetes, and urinary stones. (PMID: 20302006) Swaddiwudhipong W. … Krintratun S. (J Med Assoc Thai 2010) 23 67
  2. Atrial natriuretic peptide enhances recovery from ischemia/reperfusion-induced renal injury in rats. (PMID: 20471588) Chujo K. … Ueki M. (J. Biosci. Bioeng. 2010) 23 67
  3. Urinary L-FABP and anaemia: distinct roles of urinary markers in type 2 diabetes. (PMID: 19912308) von Eynatten M. … Humpert P.M. (Eur. J. Clin. Invest. 2010) 23 67
  4. Effect of pentoxifylline on proteinuria, markers of tubular injury and oxidative stress in non-diabetic patients with chronic kidney disease - placebo controlled, randomized, cross-over study. (PMID: 20309434) Renke M. … Rutkowski B. (Acta Biochim. Pol. 2010) 23 67
  5. Heat shock protein 70 induction and its urinary excretion in a model of acetaminophen nephrotoxicity. (PMID: 20352459) Molinas S.M. … Trumper L. (Pediatr. Nephrol. 2010) 23 67

Products for NAGLU Gene

Sources for NAGLU Gene

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