Nagpa N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Nagpaprovided by MGI
Official Full Name: N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidaseprovided by MGI
Primary source: MGI:MGI:1351598
See related: Ensembl:ENSMUSG00000023143 AllianceGenome:MGI:1351598
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: UCE
Summary: Predicted to enable N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity. Acts upstream of or within secretion of lysosomal enzymes. Predicted to be located in Golgi cisterna membrane. Is expressed in thymus primordium. Orthologous to human NAGPA (N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in adrenal adult (RPKM 27.5), ovary adult (RPKM 22.5) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 16 A1; 16 2.51 cM

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	16	NC_000082.7 (5013144..5024891, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	16	NC_000082.6 (5195280..5204032, complement)

Chromosome 16 - NC_000082.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

UCE -/- mice were viable, grew normally & lacked detectable histologic abnormalities, but plasma levels of 6 acid hydrolases were elevated. UCE accounts for all the uncovering activity in the Golgi.
Title: Mice lacking mannose 6-phosphate uncovering enzyme activity have a milder phenotype than mice deficient for N-acetylglucosamine-1-phosphotransferase activity.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (2)
Targeted (1) 1 citation

General gene information

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Markers

Nagpa (e-PCR), detects polymorphism
- UniSTS:527434

AI596180 (e-PCR)
- UniSTS:180855

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in protein glycosylation	IEA Inferred from Electronic Annotation more info
involved_in secretion of lysosomal enzymes	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within secretion of lysosomal enzymes	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in Golgi cisterna membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase

Names: alpha-GlcNAcase; mannose 6-phosphate-uncovering enzyme; phosphodiester alpha-GlcNAcase

NP_038824.2

EC 3.1.4.45

XP_006522279.1

EC 3.1.4.45

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

NM_013796.3 → NP_038824.2 N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase precursor

See identical proteins and their annotated locations for NP_038824.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the shorter transcript but encodes the functional protein.

Source sequence(s)

AC124576, AK032158, AK138035

Consensus CDS

CCDS27933.1

UniProtKB/Swiss-Prot

Q3UUT5, Q8BJ48, Q8CHQ8, Q9QZE6

UniProtKB/TrEMBL

Q3TWM3

Related

ENSMUSP00000023911.5, ENSMUST00000023911.11

Conserved Domains (1) summary

pfam09992
Location:131 → 326

DUF2233; Predicted periplasmic protein (DUF2233)

RNA

NR_027804.1 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (2) includes an alternate internal segment, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC124576, AK087468, AK138035, AK168830

Related

ENSMUST00000147567.2

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000082.7 Reference GRCm39 C57BL/6J

Range

5013144..5024891 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006522216.5 → XP_006522279.1 N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase isoform X1

UniProtKB/TrEMBL

Q3TWM3

Conserved Domains (1) summary

pfam09992
Location:131 → 326

NAGPA; Phosphodiester glycosidase