NAGLU N-acetylglucosaminidase, alpha [Homo sapiens] - Gene

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Summary

Official Symbol: NAGLUprovided by HGNC
Official Full Name: N-acetylglucosaminidase, alphaprovided by HGNC
Primary source: HGNC:7632
See related: Ensembl:ENSG00000108784; HPRD:02017; MIM:609701
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: NAG; MPS3B; UFHSD; MPS-IIIB
Summary: 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]

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Genomic context

Location :: 17q21

Sequence :: Chromosome: 17; NC_000017.10 (40687951..40696467)

See NAGLU in Epigenomics, MapViewer

Chromosome 17 - NC_000017.10 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

We have identified an 1146 bp intragenic deletion of the NAGLU gene within consanguineous parents having two children affected with Sanfilippo syndrome type B.
Title: Identification and characterization of a novel homozygous deletion in the alpha-N-acetylglucosaminidase gene in a patient with Sanfilippo type B syndrome (mucopolysaccharidosis IIIB).
The NAGLU gene in 11 Mucopolysaccharidosis type IIIB Portuguese patients, was examined, having identified five novel (M1K, W147X, G304V, S522P, and R533X) and four previously reported mutations (W168X, R234C, R565W and R643C).
Title: Molecular analysis of mucopolysaccharidosis type IIIB in Portugal: evidence of a single origin for a common mutation (R234C) in the Iberian Peninsula.
Sanfilippo syndrome (subtypes A and B) in Turkey: identification of novel mutations in SGSH and NAGLU
Title: Sanfilippo syndrome in Turkey: Identification of novel mutations in subtypes A and B.
Molecular genetics of mucopolysaccharidosis type IIIA and IIIB: Diagnostic, clinical, and biological implications
Title: Molecular genetics of mucopolysaccharidosis type IIIA and IIIB: Diagnostic, clinical, and biological implications.

Submit: New GeneRIF Correction

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Phenotypes

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Genome-wide association study of conduct disorder symptomatology.

Mucopolysaccharidosis type IIIB (Sanfilippo B)

MIM: 252920

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description
BioGRID:110750	BioGRID:113164	UBC		BioGRID	PubMed	Affinity Capture-MS

Function	Evidence Code	Pubs
alpha-N-acetylglucosaminidase activity	IEA Inferred from Electronic Annotation more info
hydrolase activity, acting on glycosyl bonds	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
cerebellar Purkinje cell layer development	IEA Inferred from Electronic Annotation more info
inner ear receptor cell development	IEA Inferred from Electronic Annotation more info
locomotor rhythm	IEA Inferred from Electronic Annotation more info
lysosome organization	IEA Inferred from Electronic Annotation more info
metabolic process	IEA Inferred from Electronic Annotation more info
middle ear morphogenesis	IEA Inferred from Electronic Annotation more info
nervous system development	TAS Traceable Author Statement more info	PubMed
retinal rod cell development	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
lysosome	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: alpha-N-acetylglucosaminidase

Names: alpha-N-acetylglucosaminidase; N-acetyl-alpha-glucosaminidase

NP_000254.2

EC 3.2.1.50

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NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_011552.1 RefSeqGene

Range

5001..13517

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000263.3 → NP_000254.2 alpha-N-acetylglucosaminidase precursor

Status: REVIEWED

Source sequence(s)

AI299657, BF435029, BQ012843, U40846

Consensus CDS

CCDS11427.1

UniProtKB/Swiss-Prot

P54802

Related

ENSP00000225927, ENST00000225927

Conserved Domains (3) summary

pfam05089
Location:130 – 467
Blast Score: 1428

NAGLU; Alpha-N-acetylglucosaminidase (NAGLU) tim-barrel domain

pfam12971
Location:42 – 117
Blast Score: 135

NAGLU_N; Alpha-N-acetylglucosaminidase (NAGLU) N-terminal domain

pfam12972
Location:473 – 734
Blast Score: 732

NAGLU_C; Alpha-N-acetylglucosaminidase (NAGLU) C-terminal domain

RefSeqs of Annotated Genomes: Build 37.3

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000017.10 Reference GRCh37.p5 Primary Assembly

Range

40687951..40696467

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000149.1 Alternate HuRef

Range

36452897..36461477

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC067852.23 (133579..142095)	None
genomic	AY401970.1	None
genomic	CH471152.1	EAW60832.1
		EAW60833.1
genomic	L78465.1	AAB36605.1
genomic	U43572.1	AAC50512.1
mRNA	AI299657.1	None
mRNA	BC053991.1	AAH53991.1
mRNA	BF435029.1	None
mRNA	BQ012843.1	None
mRNA	L78464.1	AAB36604.1
mRNA	U40846.1	AAB06188.1
mRNA	U43573.1	AAC50513.1

Protein Accession	Links
Protein Accession	GenPept Link	UniProtKB Link
P54802.2	GenPept	UniProtKB/Swiss-Prot:P54802
Q14769	GenPept	UniProtKB/TrEMBL:Q14769
Q59FD0	GenPept	UniProtKB/TrEMBL:Q59FD0