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

Also Known as UCE; APAA

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 51172

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 References 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

NAGPA: Phosphodiester glycosidase (132 - 324)

  • 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

Pre-clinical Phase

Bioactive Molecules (3)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS09012 NAGPA Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS22668 Nagpa Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS29182 Nagpa Rat Pre-designed siRNA Set A Pre-designed Set / 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
Others NAGPA NCBI