NAGPA

Hydrolases are transported to lysosomes after binding to mannose 6-phosphate receptors in the trans-Golgi network. This gene encodes the enzyme that catalyzes the second step in the formation of the mannose 6-phosphate recognition marker on lysosomal hydrolases. Commonly known as 'uncovering enzyme' or UCE, this enzyme removes N-acetyl-D-glucosamine (GlcNAc) residues from GlcNAc-alpha-P-mannose moieties and thereby produces the recognition marker. The encoded preproprotein is proteolytically processed by furin to generate the mature enzyme, a homotetramer of two disulfide-linked homodimers. Mutations in this gene are associated with developmental stuttering in human patients. [provided by RefSeq, Oct 2015]

Description

N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase

Tissue specificity

Tissue enhanced (brain)

Predicted location

Intracellular, Membrane

Protein family

Disease related genes
Enzymes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Metabolic proteins
Plasma proteins
Potential drug targets
Predicted intracellular proteins
Predicted membrane proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

16 (5024844 - 5034141)

Ensembl ID

ENSG00000103174  (ver. 103.38)

Orthologs

Mouse Nagpa: ENSMUSG00000023143

UniProt

Q9UK23

neXtProt

NX_Q9UK23

Human splice variants
Mouse splice variants

Protein structure