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
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";
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.
ModBase Predicted Comparative 3D Structure on P54802
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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.
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