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Aliases for NAGLU Gene

Aliases for NAGLU Gene

  • N-Acetyl-Alpha-Glucosaminidase 2 3 4
  • N-Acetylglucosaminidase, Alpha 2 3 5
  • NAG 3 4
  • Testicular Tissue Protein Li 18 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 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

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

ENSRs around NAGLU on UCSC Golden Path with GeneCards custom track

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

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

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

No data available for Gene Ontology (GO) - Molecular Function , 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

No data available for Gene Ontology (GO) - Cellular Components for NAGLU Gene

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: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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
N-Acetyl-D-glucosamine Approved Nutra Target, activator 0
WWL 70 Pharma α/β-hydrolase domain 6 inhibitor, Potent ABHD6 inhibitor 0

(55) 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
2,4-Diamino-6-hydroxypyrimidine
  • 2,4-Diamino-6-hydroxypyrimidine
  • 2,4-Diamino-6-pyrimidinone
  • 2,6-Diamino-4(1H)-pyrimidinone
  • 2,6-Diamino-4(3H)-pyrimidinone
  • 2,6-Diamino-4-hydroxypyrimidine
56-06-4
Flurofamide
70788-28-2
Lys-gamma3-MSH
156159-18-1
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

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

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
chimpanzee
(Pan troglodytes)
Mammalia NAGLU 35
  • 99.69 (n)
  • 99.87 (a)
NAGLU 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia NAGLU 36
  • 86 (a)
OneToOne
NAGLU 35
  • 82.69 (n)
  • 81.71 (a)
dog
(Canis familiaris)
Mammalia NAGLU 35
  • 87.34 (n)
  • 86.44 (a)
NAGLU 36
  • 85 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Naglu 36
  • 83 (a)
OneToOne
Naglu 16
Naglu 35
  • 84.17 (n)
  • 83.79 (a)
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 36
  • 56 (a)
OneToOne
naglu 35
  • 62.08 (n)
  • 59.57 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011750 35
  • 51.15 (n)
  • 43.82 (a)
fruit fly
(Drosophila melanogaster)
Insecta ESTS:172F5T 37
  • 41 (a)
CG13397 36
  • 38 (a)
OneToOne
CG13397 35
  • 51.87 (n)
  • 43.95 (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
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
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: 13.5% 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

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

- 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
  • 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.
  • 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.

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. 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 23 67
  2. The protective effects of PUGNAc on cardiac function after trauma-hemorrhage are mediated via increased protein O-GlcNAc levels. (PMID: 17414423) Zou L. … Chatham J.C. (Shock 2007) 25 26
  3. A rapid and sensitive method for screening of chitinase inhibitors using Ostazin Brilliant Red labelled chitin as a substrate for chitinase assay. (PMID: 17576230) Shirazi F. … Deshpande M.V. (Lett. Appl. Microbiol. 2007) 25 26
  4. Characterization of chito-oligosaccharides prepared by chitosanolysis with the aid of papain and Pronase, and their bactericidal action against Bacillus cereus and Escherichia coli. (PMID: 15932346) Vishu Kumar A.B. … Tharanathan R.N. (Biochem. J. 2005) 25 26
  5. Role of N-linked polymannose oligosaccharides in targeting glycoproteins for endoplasmic reticulum-associated degradation. (PMID: 15112051) Spiro R.G. (Cell. Mol. Life Sci. 2004) 25 26

Products for NAGLU Gene

Sources for NAGLU Gene

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