Go Annotations as Summary Text (Tabular View) (GO Graph)

GO curators for mouse genes have assigned the following annotations to the gene product of Naglu. (This text reflects annotations as of Wednesday, January 23, 2013.)

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Summary from NCBI RefSeq

[Summary is not available for the mouse gene. This summary is for the human ortholog.] 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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Summary text based on GO annotations supported by experimental evidence in mouse

• Researchers have inferred, based on phenotypic analysis of mouse mutants, that the gene product of Naglu
  • participates in the following biological processes:
    • cerebellar Purkinje cell layer development ^[1]
    • inner ear receptor cell development ^[1]
    • locomotor rhythm ^[1]
    • lysosome organization ^[1]
    • middle ear morphogenesis ^[1]
    • retinal rod cell development ^[1]

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Summary text for additional MGI annotations

• Automated translation to GO terms of SwissProt keywords that describe Naglu indicates that it:
  • participates in the following biological processes:
    • metabolic process
  • performs the following molecular functions:
    • hydrolase activity
    • hydrolase activity, acting on glycosyl bonds
• Naglu has been associated with the Enzyme Commission numbers: 3.2.1.50, which implies that the gene product:
  • performs the following molecular functions:
    • alpha-N-acetylglucosaminidase activity

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References

1. Heldermon CD et al. (2007) Development of sensory, motor and behavioral deficits in the murine model of Sanfilippo syndrome type B. PLoS ONE, 2:e772. (PubMed:17712420)

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Gene Ontology Evidence Code Abbreviations:

EXP Inferred from experiment

IC Inferred by curator

IDA Inferred from direct assay

IEA Inferred from electronic annotation

IGI Inferred from genetic interaction

IMP Inferred from mutant phenotype

IPI Inferred from physical interaction

ISS Inferred from sequence or structural similarity

ISO Inferred from sequence orthology

ISA Inferred from sequence alignment

ISM Inferred from sequence model

NAS Non-traceable author statement

ND No biological data available

RCA Reviewed computational analysis

TAS Traceable author statement

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