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NAGPA N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase [ Homo sapiens (human) ]

Gene ID: 51172, updated on 5-Aug-2018

Summary

Official Symbol
NAGPAprovided by HGNC
Official Full Name
N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidaseprovided by HGNC
Primary source
HGNC:HGNC:17378
See related
Ensembl:ENSG00000103174 MIM:607985; Vega:OTTHUMG00000090515
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
UCE; APAA
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]
Expression
Ubiquitous expression in spleen (RPKM 5.3), stomach (RPKM 4.9) and 25 other tissues See more
Orthologs

Genomic context

See NAGPA in Genome Data Viewer
Location:
16p13.3
Exon count:
11
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 16 NC_000016.10 (5024844..5033941, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (5074845..5083942, complement)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371064 Neighboring gene periplakin Neighboring gene SEC14 like lipid binding 5 Neighboring gene NAGPA antisense RNA 1 Neighboring gene chromosome 16 open reading frame 89 Neighboring gene ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase Neighboring gene eukaryotic elongation factor 2 lysine methyltransferase

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • Lysosome, organism-specific biosystem (from KEGG)
    Lysosome, organism-specific biosystemLysosomes are membrane-delimited organelles in animal cells serving as the cell's main digestive compartment to which all sorts of macromolecules are delivered for degradation. They contain more than...
  • Lysosome, conserved biosystem (from KEGG)
    Lysosome, conserved biosystemLysosomes are membrane-delimited organelles in animal cells serving as the cell's main digestive compartment to which all sorts of macromolecules are delivered for degradation. They contain more than...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
carbohydrate metabolic process TAS
Traceable Author Statement
more info
PubMed 
cellular protein modification process TAS
Traceable Author Statement
more info
PubMed 
lysosome organization TAS
Traceable Author Statement
more info
PubMed 
protein glycosylation IEA
Inferred from Electronic Annotation
more info
 
protein targeting to lysosome TAS
Traceable Author Statement
more info
PubMed 
secretion of lysosomal enzymes IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
Golgi cisterna membrane IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane TAS
Traceable Author Statement
more info
PubMed 

General protein information

Preferred Names
N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase
Names
alpha-N-acetylglucosaminyl phosphodiesterase
lysosomal alpha-N-acetylglucosaminidase
mannose 6-phosphate-uncovering enzyme
phosphodiester alpha-GlcNAcase
NP_057340.2
XP_011520819.1

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

  1. NG_028152.1 RefSeqGene

    Range
    5001..14098
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_016256.3NP_057340.2  N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase precursor

    See identical proteins and their annotated locations for NP_057340.2

    Status: REVIEWED

    Source sequence(s)
    AC026458, AK025570, DA879815
    Consensus CDS
    CCDS10527.1
    UniProtKB/Swiss-Prot
    Q9UK23
    Related
    ENSP00000310998.3, OTTHUMP00000115598, ENST00000312251.7, OTTHUMT00000207003
    Conserved Domains (1) summary
    pfam09992
    Location:134325
    DUF2233; Predicted periplasmic protein (DUF2233)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p12 Primary Assembly

    Range
    5024844..5033941 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011522517.3XP_011520819.1  N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase isoform X1

    Conserved Domains (1) summary
    pfam09992
    Location:134325
    DUF2233; Predicted periplasmic protein (DUF2233)

RNA

  1. XR_001751909.2 RNA Sequence

  2. XR_001751911.2 RNA Sequence

  3. XR_001751910.2 RNA Sequence

    Related
    ENST00000562746.5
  4. XR_001751908.2 RNA Sequence

  5. XR_001751912.2 RNA Sequence

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