Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	51172
Gene name	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase
Gene symbol	NAGPA
Synonyms (NCBI Gene)	APAAUCE
Chromosome	16
Chromosome location	16p13.3
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 hydr

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miRTarBase ID	miRNA	Experiments	Reference
MIRT019717	hsa-miR-375	Microarray	20215506
MIRT044896	hsa-miR-193a-3p	CLASH	23622248
MIRT1173074	hsa-miR-203	CLIP-seq
MIRT1173075	hsa-miR-298	CLIP-seq
MIRT1173076	hsa-miR-3158-5p	CLIP-seq
MIRT1173077	hsa-miR-331-3p	CLIP-seq
MIRT1173078	hsa-miR-3679-3p	CLIP-seq
MIRT1173079	hsa-miR-4786-3p	CLIP-seq
MIRT1173080	hsa-miR-513a-3p	CLIP-seq
MIRT1173075	hsa-miR-298	CLIP-seq
MIRT1173076	hsa-miR-3158-5p	CLIP-seq
MIRT1173077	hsa-miR-331-3p	CLIP-seq
MIRT1173078	hsa-miR-3679-3p	CLIP-seq
MIRT2050128	hsa-miR-4514	CLIP-seq
MIRT2050129	hsa-miR-4692	CLIP-seq
MIRT1173079	hsa-miR-4786-3p	CLIP-seq
MIRT1173080	hsa-miR-513a-3p	CLIP-seq
MIRT2279056	hsa-miR-1307	CLIP-seq
MIRT2279057	hsa-miR-1972	CLIP-seq
MIRT2279058	hsa-miR-214	CLIP-seq
MIRT2279059	hsa-miR-3166	CLIP-seq
MIRT2279060	hsa-miR-3619-5p	CLIP-seq
MIRT2050128	hsa-miR-4514	CLIP-seq
MIRT2279061	hsa-miR-4638-5p	CLIP-seq
MIRT2050129	hsa-miR-4692	CLIP-seq
MIRT2279062	hsa-miR-761	CLIP-seq
MIRT2279063	hsa-miR-885-3p	CLIP-seq
MIRT2279064	hsa-miR-922	CLIP-seq
MIRT2279065	hsa-miR-940	CLIP-seq

Show/Hide all (15)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003944	Function	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity	IEA
GO:0003944	Function	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity	TAS	10551838
GO:0005515	Function	Protein binding	IPI	26544806
GO:0005794	Component	Golgi apparatus	IEA
GO:0005975	Process	Carbohydrate metabolic process	TAS	10551838
GO:0006486	Process	Protein glycosylation	IEA
GO:0006622	Process	Protein targeting to lysosome	TAS	10551838
GO:0007040	Process	Lysosome organization	TAS	10551838
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	TAS	10551838
GO:0016787	Function	Hydrolase activity	IEA
GO:0032580	Component	Golgi cisterna membrane	IEA
GO:0033299	Process	Secretion of lysosomal enzymes	IBA
GO:0033299	Process	Secretion of lysosomal enzymes	IEA
GO:0036211	Process	Protein modification process	TAS	10551838

MIM	HGNC	e!Ensembl
607985	17378	ENSG00000103174

Q9UK23

Protein name

N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase (EC 3.1.4.45) (Mannose 6-phosphate-uncovering enzyme) (Phosphodiester alpha-GlcNAcase)

Protein function

Catalyzes the second step in the formation of the mannose 6-phosphate targeting signal on lysosomal enzyme oligosaccharides by removing GlcNAc residues from GlcNAc-alpha-P-mannose moieties, which are formed in the first step. Also hydrolyzes UDP

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF09992	NAGPA	130 → 325	Phosphodiester glycosidase	Domain

Tissue specificity

TISSUE SPECIFICITY: Isoform 2 may be brain-specific.

Sequence

MATSTGRWLLLRLALFGFLWEASGGLDSGASRDDDLLLPYPRARARLPRDCTRVRAGNRE
HESWPPPPATPGAGGLAVRTFVSHFRDRAVAGHLTRAVEPLRTFSVLEPGGPGGCAARRR
ATVEETARAADCRVAQNGGFFRMNSGECLGNVVSDERRVSSSGGLQNAQFGIRRDGTLVT
GYLSEEEVLDTENPFVQLLSGVVWLIRNGSIYINESQATECDETQETGSFSKFVNVISAR
TAIGHDRKGQLVLFHADGQTEQRGINLWEMAEFLLKQDVVNAINLDGGGSATFVLNGTLA
SYPSDHCQDNMWRCPRQVSTVVCVHEPRCQPPDCHGHGTCVDGHCQCTGHFWRGPGCDEL
DCGPSNCSQHGLCTETGCRCDAGWTGSNCSEECPLGWHGPGCQRPCKCEHHCPCDPKTGN
CSVSRVKQCLQPPEATLRAGELSFFTRTAWLALTLALAFLLLISTAANLSLLLSRAERNR
RLHGDYAYHPLQEMNGEPLAAEKEQPGGAHNPFKD

Sequence length

515

Interactions

View interactions

	KEGG
	Lysosome

Show/Hide Unknown Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cholangiocarcinoma	Benign	rs2972272	RCV005894002
Malignant lymphoma, large B-cell, diffuse	Benign	rs2972272	RCV005894000
NAGPA-related disorder	Likely benign; Benign	rs149923128, rs182496699, rs1413137050, rs141568446, rs371054576, rs769350585, rs140529374, rs781132322, rs769141621, rs112032998, rs377257072	RCV003931895 RCV003912052 RCV003912170 RCV003973924 RCV003927303 RCV003934780 RCV003914517 RCV003944391 RCV003969374 RCV003964710 RCV003962075
Stuttering, familial persistent, 2	Uncertain significance; Conflicting classifications of pathogenicity	rs755458782, rs139526942	RCV000023671 RCV000023672
Thymoma	Benign	rs2972272	RCV005894001
Uterine corpus endometrial carcinoma	Benign	rs2972272	RCV005894003
Variant of unknown significance	Uncertain significance	rs2142553601	RCV000023673

Show/Hide Text Mining Associations (9)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Dyslexia	Associate	25643770
IgA Vasculitis	Associate	33993232
Lysosomal Storage Diseases	Associate	20147709
Mucocutaneous Lymph Node Syndrome	Associate	33993232
Mucolipidoses	Associate	20147709
Multiple Myeloma	Associate	31948430
Neurologic Manifestations	Associate	20147709
Stuttering	Associate	21956109, 24807205, 25643770, 26130485, 26544806
Vasculitis	Associate	33993232

NAGPA (N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase)