Human Gene NAGLU (ENST00000225927.7) from GENCODE V44
  Description: Homo sapiens N-acetyl-alpha-glucosaminidase (NAGLU), mRNA. (from RefSeq NM_000263)
RefSeq Summary (NM_000263): 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].
Gencode Transcript: ENST00000225927.7
Gencode Gene: ENSG00000108784.10
Transcript (Including UTRs)
   Position: hg38 chr17:42,536,241-42,544,449 Size: 8,209 Total Exon Count: 6 Strand: +
Coding Region
   Position: hg38 chr17:42,536,273-42,544,238 Size: 7,966 Coding Exon Count: 6 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesGeneReviewsMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr17:42,536,241-42,544,449)mRNA (may differ from genome)Protein (743 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGImyGene2
neXtProtOMIMPubMedReactomeUniProtKBWikipedia
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: ANAG_HUMAN
DESCRIPTION: RecName: Full=Alpha-N-acetylglucosaminidase; EC=3.2.1.50; AltName: Full=N-acetyl-alpha-glucosaminidase; Short=NAG; Contains: RecName: Full=Alpha-N-acetylglucosaminidase 82 kDa form; Contains: RecName: Full=Alpha-N-acetylglucosaminidase 77 kDa form; Flags: Precursor;
FUNCTION: Involved in the degradation of heparan sulfate.
CATALYTIC ACTIVITY: Hydrolysis of terminal non-reducing N-acetyl- D-glucosamine residues in N-acetyl-alpha-D-glucosaminides.
SUBUNIT: Monomer and homodimer.
SUBCELLULAR LOCATION: Lysosome.
TISSUE SPECIFICITY: Liver, ovary, peripheral blood leukocytes, testis, prostate, spleen, colon, lung, placenta and kidney.
DISEASE: 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 life.
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 Arg.
WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/NAGLU";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: NAGLU
Diseases sorted by gene-association score: charcot-marie-tooth disease, axonal, type 2v* (1700), mucopolysaccharidosis type iiib* (1690), mucopolysaccharidosis iii* (310), mucopolysaccharidosis type iiia (15), lysosomal storage disease (15), acute pyelonephritis (14), mucopolysaccharidosis-plus syndrome (13), ideomotor apraxia (11), mucopolysaccharidosis is (10), hypertensive nephropathy (10), pyelonephritis (10), lowe syndrome (9), kluver-bucy syndrome (9), balkan nephropathy (9), mucopolysaccharidoses (9), urinary tract obstruction (8), vesicoureteral reflux (7), iga glomerulonephritis (7), acute kidney tubular necrosis (6), urinary system disease (6), microvascular complications of diabetes 3 (6), kidney disease (6), nephrolithiasis, calcium oxalate (6), hydronephrosis (6), lipoid nephrosis (5), xanthinuria, type i (5), idiopathic hypercalciuria (5), charcot-marie-tooth disease (3)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 23.97 RPKM in Spleen
Total median expression: 659.56 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -7.2032-0.225 Picture PostScript Text
3' UTR -84.80211-0.402 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR007781 - NAGLU
IPR024732 - NAGLU_C
IPR024240 - NAGLU_N
IPR024733 - NAGLU_tim-barrel

Pfam Domains:
PF05089 - Alpha-N-acetylglucosaminidase (NAGLU) tim-barrel domain
PF12972 - Alpha-N-acetylglucosaminidase (NAGLU) C-terminal domain
PF12971 - Alpha-N-acetylglucosaminidase (NAGLU) N-terminal domain

ModBase Predicted Comparative 3D Structure on P54802
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserGenome BrowserGenome BrowserNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsemblEnsembl  
Protein SequenceProtein SequenceProtein SequenceProtein Sequence  
AlignmentAlignmentAlignmentAlignment  

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004561 alpha-N-acetylglucosaminidase activity
GO:0016787 hydrolase activity
GO:0016798 hydrolase activity, acting on glycosyl bonds

Biological Process:
GO:0006027 glycosaminoglycan catabolic process
GO:0007040 lysosome organization
GO:0007399 nervous system development
GO:0008152 metabolic process
GO:0021680 cerebellar Purkinje cell layer development
GO:0042474 middle ear morphogenesis
GO:0045475 locomotor rhythm
GO:0046548 retinal rod cell development
GO:0060119 inner ear receptor cell development

Cellular Component:
GO:0005764 lysosome
GO:0043202 lysosomal lumen
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  HM005331 - Homo sapiens clone HTL-T-18 testicular tissue protein Li 18 mRNA, complete cds.
LF209344 - JP 2014500723-A/16847: Polycomb-Associated Non-Coding RNAs.
MA444921 - JP 2018138019-A/16847: Polycomb-Associated Non-Coding RNAs.
U40846 - Human alpha-N-acetylglucosaminidase (NAG) mRNA, complete cds.
BC053991 - Homo sapiens N-acetylglucosaminidase, alpha-, mRNA (cDNA clone MGC:59849 IMAGE:6213852), complete cds.
L78464 - Human alpha-N-acetylglucosaminidase (ufHSD1) mRNA, complete cds.
U43573 - Human alpha-N-acetylglucosaminidase (NAGLU) mRNA, complete cds.
LF327880 - JP 2014500723-A/135383: Polycomb-Associated Non-Coding RNAs.
MA563457 - JP 2018138019-A/135383: Polycomb-Associated Non-Coding RNAs.
JD357865 - Sequence 338889 from Patent EP1572962.
JD322607 - Sequence 303631 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00531 - Glycosaminoglycan degradation
hsa01100 - Metabolic pathways
hsa04142 - Lysosome

Reactome (by CSHL, EBI, and GO)

Protein P54802 (Reactome details) participates in the following event(s):

R-HSA-1678742 NAGLU hydrolyses Heparan sulfate chain(4)
R-HSA-2090038 NAGLU hydrolyses heparan chain(2)
R-HSA-2024096 HS-GAG degradation
R-HSA-1638091 Heparan sulfate/heparin (HS-GAG) metabolism
R-HSA-1630316 Glycosaminoglycan metabolism
R-HSA-71387 Metabolism of carbohydrates
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: ANAG_HUMAN, ENST00000225927.1, ENST00000225927.2, ENST00000225927.3, ENST00000225927.4, ENST00000225927.5, ENST00000225927.6, NM_000263, P54802, uc002hzv.1, uc002hzv.2, uc002hzv.3, uc002hzv.4, uc002hzv.5, UFHSD1
UCSC ID: ENST00000225927.7
RefSeq Accession: NM_000263
Protein: P54802 (aka ANAG_HUMAN)
CCDS: CCDS11427.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene NAGLU:
mps3 (Mucopolysaccharidosis Type III)

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.