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Aliases for NAGLU Gene

Aliases for NAGLU Gene

  • N-Acetyl-Alpha-Glucosaminidase 2 3 4 5
  • N-Acetylglucosaminidase, Alpha 2 3
  • NAG 3 4
  • Testicular Tissue Protein Li 18 3
  • Alpha-N-Acetylglucosaminidase 3
  • Sanfilippo Disease IIIB 2
  • EC 3.2.1.50 4
  • MPS-IIIB 3
  • UFHSD1 4
  • CMT2V 3
  • 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-Acetyl-Alpha-Glucosaminidase) is a Protein Coding gene. Diseases associated with NAGLU include Charcot-Marie-Tooth Disease, Axonal, Type 2V and Mucopolysaccharidosis Type Iiib. Among its related pathways are Defective B4GALT7 causes EDS, progeroid type 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

Enhancers for NAGLU Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around NAGLU on UCSC Golden Path with GeneCards custom track

Promoters for NAGLU Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

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

Genes around NAGLU on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NAGLU Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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.

    Three dimensional structures from OCA and Proteopedia for NAGLU Gene

neXtProt entry for NAGLU Gene

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

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

P54802

UniProtKB/Swiss-Prot:

ANAG_HUMAN :
  • Belongs to the glycosyl hydrolase 89 family.
Family:
  • Belongs to the glycosyl hydrolase 89 family.
genes like me logo Genes that share domains with NAGLU: view

No data available for Gene Families 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 TAS --
genes like me logo Genes that share ontologies with NAGLU: view
genes like me logo Genes that share phenotypes with NAGLU: view

Human Phenotype Ontology for NAGLU Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for NAGLU Gene

MGI Knock Outs for NAGLU:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone 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
endoplasmic reticulum 2
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 & Interactions for NAGLU Gene

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

Gene Ontology (GO) - Biological Process for NAGLU Gene

GO ID Qualified GO term Evidence PubMed IDs
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 --
GO:0042474 middle ear morphogenesis 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

(72) Drugs for NAGLU Gene - From: DrugBank, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
N-Acetyl-D-glucosamine Approved Nutra Target, activator 0
Water Approved Pharma 0
(Z)-Pugnac Pharma Inhibitor of O-GlcNAcase and β-hexosaminidase, O-GlcNAcase and beta-hexosaminidase inhibitor 0
Flurofamide Pharma Urease inhibitor 0
Thiamet G Pharma O-GlcNAcase inhibitor, potent and selective, Potent O-GlcNAcase inhibitor 0

(50) Additional Compounds for NAGLU Gene - From: Novoseek and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
JZP 430
1672691-74-5

(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
JZP 430 Potent and irreversible alpha/beta-hydrolase domain 6 (ABHD6) inhibitor 1672691-74-5
Thiamet G Potent O-GlcNAcase inhibitor 1009816-48-1
WWL 70 Potent ABHD6 inhibitor 947669-91-2
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:

CRISPR Products

Inhibitory RNA Products

Clone Products

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, MaxQB, and MOPED for NAGLU Gene



Protein tissue co-expression partners for NAGLU Gene

NURSA nuclear receptor signaling pathways regulating expression of NAGLU Gene:

NAGLU

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

Primer 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 34
  • 82.69 (n)
  • 81.71 (a)
NAGLU 35
  • 86 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NAGLU 34
  • 87.34 (n)
  • 86.44 (a)
NAGLU 35
  • 85 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Naglu 34
  • 84.17 (n)
  • 83.79 (a)
Naglu 16
Naglu 35
  • 83 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia NAGLU 34
  • 99.69 (n)
  • 99.87 (a)
NAGLU 35
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Naglu 34
  • 84.07 (n)
  • 83.07 (a)
lizard
(Anolis carolinensis)
Reptilia NAGLU 35
  • 60 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia naglu 34
  • 63.41 (n)
  • 59.77 (a)
Str.3226 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.21322 34
zebrafish
(Danio rerio)
Actinopterygii naglu 34
  • 62.08 (n)
  • 59.57 (a)
naglu 35
  • 56 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta ESTS:172F5T 36
  • 41 (a)
CG13397 34
  • 51.87 (n)
  • 43.95 (a)
CG13397 35
  • 38 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011750 34
  • 51.15 (n)
  • 43.82 (a)
worm
(Caenorhabditis elegans)
Secernentea K09E4.4 36
  • 35 (a)
K09E4.4 35
  • 32 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons CYL1 34
  • 49.45 (n)
  • 43.15 (a)
Species where no ortholog for NAGLU was found in the sources mined by GeneCards:
  • 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
VAR_005007 Mucopolysaccharidosis 3B (MPS3B)
VAR_005008 Mucopolysaccharidosis 3B (MPS3B)
VAR_005009 Mucopolysaccharidosis 3B (MPS3B)
VAR_005010 Mucopolysaccharidosis 3B (MPS3B)
rs368687817 Mucopolysaccharidosis 3B (MPS3B) 42,543,079(+) CCAGC(C/T)GCAGT reference, missense

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

Variant ID Type Subtype PubMed ID
esv30001 CNV loss 17803354
esv33998 OTHER inversion 15654335
nsv1064012 CNV gain 25217958
nsv1146669 OTHER inversion 26484159

Variation tolerance for NAGLU Gene

Residual Variation Intolerance Score: 13.5% 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

Human Gene Mutation Database (HGMD)
NAGLU
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NAGLU

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

Disorders for NAGLU Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
charcot-marie-tooth disease, axonal, type 2v
  • autosomal dominant charcot-marie-tooth disease type 2v
mucopolysaccharidosis type iiib
  • mucopolysaccharidosis, type iiib
short stature, optic nerve atrophy, and pelger-huet anomaly
  • soph syndrome
infantile liver failure syndrome 2
  • ilfs2
mucopolysaccharidosis
  • mps
- elite association - COSMIC cancer census association via MalaCards
Search NAGLU in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ANAG_HUMAN
  • Charcot-Marie-Tooth disease 2V (CMT2V) [MIM:616491]: An axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. CMT2V is an autosomal dominant sensory neuropathy with late onset. The main clinical feature is recurrent leg pain that progresses to constant painful paraesthesias in the feet and later the hands. As it evolves, some patients develop a mild sensory ataxia. {ECO:0000269 PubMed:25818867}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • 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. Sanfilippo syndrome in Turkey: identification of novel mutations in subtypes A and B. (PMID: 11793481) Emre S. … Hopwood J.J. (Hum. Mutat. 2002) 3 4 22 65
  2. Mucopolysaccharidosis type IIIB: characterisation and expression of wild-type and mutant recombinant alpha-N-acetylglucosaminidase and relationship with sanfilippo phenotype in an attenuated patient. (PMID: 11068184) Yogalingam G. … Hopwood J.J. (Biochim. Biophys. Acta 2000) 3 4 22 65
  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 22 65
  4. NAGLU mutations underlying Sanfilippo syndrome type B. (PMID: 9443878) Schmidtchen A. … Neufeld E.F. (Am. J. Hum. Genet. 1998) 3 4 22 65
  5. 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 22 65

Products for NAGLU Gene

Sources for NAGLU Gene

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