NAGPA - N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase Gene

Homo sapiens

Also known as UCE; APAA

Gene ID: 51172 | Gene type: protein coding

About NAGPA

Cytogenetic location: 16p13.3 Genomic coordinates (GRCh38): 16:5,024,844-5,033,935 (from NCBI)

This gene has 18 transcripts (splice variants), 207 orthologues and 4 paralogues. Ubiquitous expression in spleen (RPKM 5.3), stomach (RPKM 4.9) and 25 other tissues.

Summary

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]

NAGPA Products(1)

mRNA	Protein	Name
NM_016256.4	NP_057340.2	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase precursor

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	26544806	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

NAGPA Protein Structure

NAGPA

0
100
200
300
400
515 a.a.

Protein Preferred Names

Protein Names

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

alpha-N-acetylglucosaminyl phosphodiesterase

Related Diseases

Diseases

Alias

Stuttering

Stammering	Familial Persistent Stuttering
Stuttering, Familial Persistent 1

Articulation Disorder

Phonological Disorder	Articulation Disorders
Articulation Impairment	Speech Sound Disorders

Speech Disorder

Speech Disorders

Mucolipidosis Iii Alpha/Beta

Pseudo-Hurler Polydystrophy	Mucolipidosis Iii
Ml Iii Alpha/Beta	Mucolipidosis Iiia
Ml Iiia	Ml Iii
Ml 3 A	Ml3
Mucolipidosis Type 3a	Mucolipidosis Iii, Variant
Mucolipidosis Type Iii Alpha/Beta	Ml 3 Alpha/Beta
Mucolipidosis Type 3 Alpha/Beta	Mucolipidosis Type 3
Mucolipidosis Type Iii Complementation Group A	MLIIIA
Cariant Pseudo-Hurler Polydystrophy	Mucolipidosis, Type Iii Alpha/Beta
Mucolipidosis, Type Iii, Alpha/Beta

Dyslexia

Mucolipidosis

Mucolipidosis Ii Alpha/Beta

I-Cell Disease	Mucolipidosis Type Ii
Mucolipidosis Ii	Icd
Inclusion Cell Disease	Inclusion-Cell Disease
I Cell Disease	Mucolipidosis 2
MLII	Ml Ii
Ml Ii Alpha/Beta	Gnpta
Leroy Disease	Ml 2
Ml Disorder Type 2	N-Acetylglucosamine 1phosphotransferase Deficiency
Mucolipidosis Type Ii Alpha/Beta	N-Acetylglucosamine 1-Phosphotransferase Deficiency
Deficiency Of N-Acetylglucosamine-1-Phosphotransferase	Mucolipidosis, Type Ii, Alpha/Beta
Ml2	Type Ii Mucolipidosis

Speech And Communication Disorders

Language Disorder	Communication Disorder
Language Disorders	Communication Disorders
Speech Language Disorder	Speech-Language Disorder
Communication Impairment	Speech And Language Disorder

Specific Language Impairment

Language Impairment, Specific

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS09012	NAGPA Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	NAGPA	VGNC	VGNC:63714
Canis familiaris	NAGPA	VGNC	VGNC:43610
Rattus norvegicus	NAGPA	RGD	RGD:1308972
Mus musculus	NAGPA	MGD	MGI:1351598
Bos taurus	NAGPA	VGNC	VGNC:31870
Macaca mulatta	NAGPA	VGNC	VGNC:74978

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