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Entry version 159 (12 Aug 2020)
Sequence version 2 (18 May 2010)
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Protein

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

Gene

NAGPA

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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-GlcNAc, a sugar donor for Golgi N-acetylglucosaminyltransferases.1 Publication

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section describes the metabolic pathway(s) associated with a protein.<p><a href='/help/pathway' target='_top'>More...</a></p>Pathwayi: protein glycosylation

This protein is involved in the pathway protein glycosylation, which is part of Protein modification.
View all proteins of this organism that are known to be involved in the pathway protein glycosylation and in Protein modification.

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionHydrolase

Enzyme and pathway databases

BRENDA Comprehensive Enzyme Information System

More...
BRENDAi
3.1.4.45, 2681

Pathway Commons web resource for biological pathway data

More...
PathwayCommonsi
Q9UK23

UniPathway: a resource for the exploration and annotation of metabolic pathways

More...
UniPathwayi
UPA00378

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase (EC:3.1.4.45)
Alternative name(s):
Mannose 6-phosphate-uncovering enzyme
Phosphodiester alpha-GlcNAcase
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:NAGPA
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 16

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000103174.11

Human Gene Nomenclature Database

More...
HGNCi
HGNC:17378, NAGPA

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
607985, gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9UK23

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini50 – 448LumenalSequence analysisAdd BLAST399
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei449 – 469HelicalSequence analysisAdd BLAST21
Topological domaini470 – 515CytoplasmicSequence analysisAdd BLAST46

Keywords - Cellular componenti

Golgi apparatus, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Defects in NAGPA have been suggested to play a role in susceptibility to persistent stuttering. Stuttering is a common speech disorder characterized by repetitions, prolongations, and interruptions in the flow of speech.1 Publication

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi51C → M: 65% of wild-type of activity. 1 Publication1
Mutagenesisi115C → S: 15% of wild-type of activity, and almost no traffic to Golgi. 1 Publication1
Mutagenesisi132C → V: No traffic to Golgi. 1 Publication1
Mutagenesisi137N → A: 11% of wild-type of activity. 1 Publication1
Mutagenesisi221C → L: 10% of wild-type of activity; when associated with M-51. 1 Publication1
Mutagenesisi225Q → H: 6% of wild-type of activity. 1 Publication1
Mutagenesisi227T → R: Complete loss of activity. 1 Publication1
Mutagenesisi247R → A: 87% of wild-type of activity. 1 Publication1
Mutagenesisi284N → A: 22% of wild-type of activity. 1 Publication1
Mutagenesisi286D → A: Complete loss of activity. 1 Publication1
Mutagenesisi287G → A: 16% of wild-type of activity. 1 Publication1
Mutagenesisi288G → A: Complete loss of activity. 1 Publication1
Mutagenesisi289G → A: Complete loss of activity. 1 Publication1
Mutagenesisi290S → A: Complete loss of activity. 1 Publication1
Mutagenesisi320T → A: 43% of wild-type of activity. 1 Publication1
Mutagenesisi322V → A: 67% of wild-type of activity. 1 Publication1
Mutagenesisi486Y → A: Interaction with AP4M1 is abolished. 1 Publication1
Mutagenesisi488Y → A: Interaction with AP4M1 is abolished. 1 Publication1
Mutagenesisi491L → A: Interaction with AP4M1 is abolished. 1 Publication1

Organism-specific databases

DisGeNET

More...
DisGeNETi
51172

Open Targets

More...
OpenTargetsi
ENSG00000103174

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA134940049

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q9UK23, Tbio

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL5920

Drug and drug target database

More...
DrugBanki
DB00141, N-Acetylglucosamine

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
NAGPA

Domain mapping of disease mutations (DMDM)

More...
DMDMi
296439239

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 251 PublicationAdd BLAST25
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section describes a propeptide, which is a part of a protein that is cleaved during maturation or activation. Once cleaved, a propeptide generally has no independent biological function.<p><a href='/help/propep' target='_top'>More...</a></p>PropeptideiPRO_000042465926 – 49Removed in mature formAdd BLAST24
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000002178850 – 515N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidaseAdd BLAST466

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi115 ↔ 1481 Publication
Disulfide bondi132 ↔ 323PROSITE-ProRule annotation1 Publication
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi208N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi214N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi296N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi307 ↔ 3141 Publication
Disulfide bondi362 ↔ 373PROSITE-ProRule annotation
Glycosylationi366N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi380 ↔ 389PROSITE-ProRule annotation
Glycosylationi388N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi420N-linked (GlcNAc...) asparagineSequence analysis1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

The precursor is cleaved and activated in the trans-Golgi network by a furin endopeptidase.1 Publication

Keywords - PTMi

Disulfide bond, Glycoprotein, Zymogen

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q9UK23

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q9UK23

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q9UK23

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q9UK23

PeptideAtlas

More...
PeptideAtlasi
Q9UK23

PRoteomics IDEntifications database

More...
PRIDEi
Q9UK23

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
84708 [Q9UK23-1]
84709 [Q9UK23-2]
84710 [Q9UK23-3]

PTM databases

GlyGen: Computational and Informatics Resources for Glycoscience

More...
GlyGeni
Q9UK23, 6 sites

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9UK23

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q9UK23

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Isoform 2 may be brain-specific.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000103174, Expressed in anterior cingulate cortex and 208 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q9UK23, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q9UK23, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000103174, Low tissue specificity

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Homotetramer arranged as two disulfide-linked homodimers.

Interacts with AP4M1.

By similarity1 Publication

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...
BioGRIDi
119351, 16 interactors

Protein interaction database and analysis system

More...
IntActi
Q9UK23, 13 interactors

Molecular INTeraction database

More...
MINTi
Q9UK23

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000310998

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q9UK23, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
Q9UK23

Database of comparative protein structure models

More...
ModBasei
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini358 – 390EGF-likePROSITE-ProRule annotationAdd BLAST33

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni486 – 493Mediates the interaction with AP4M11 Publication8

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi488 – 491Tyrosine-based internalization motif4
Motifi511 – 515NPF internalization motif5

<p>This subsection of the 'Family and domains' section provides general information on the biological role of a domain. The term 'domain' is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The tyrosine-based internalization signal may be essential for its retrieval from the plasma membrane to the TGN.
The C-terminal NPFKD sequence is an attractive candidate for either an endocytosis signal acting at the plasma membrane or a retrieval signal acting at the TGN to return the enzyme to the cis/medial-Golgi.

Keywords - Domaini

EGF-like domain, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG502QRY5, Eukaryota

Ensembl GeneTree

More...
GeneTreei
ENSGT01000000214453

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_031673_1_0_1

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q9UK23

KEGG Orthology (KO)

More...
KOi
K01125

Identification of Orthologs from Complete Genome Data

More...
OMAi
GEVYINQ

Database of Orthologous Groups

More...
OrthoDBi
18592at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9UK23

TreeFam database of animal gene trees

More...
TreeFami
TF331920

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR013032, EGF-like_CS
IPR000742, EGF-like_dom
IPR018711, NAGPA

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF09992, NAGPA, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00022, EGF_1, 1 hit
PS01186, EGF_2, 1 hit
PS50026, EGF_3, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 5 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9UK23-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MATSTGRWLL LRLALFGFLW EASGGLDSGA SRDDDLLLPY PRARARLPRD
60 70 80 90 100
CTRVRAGNRE HESWPPPPAT PGAGGLAVRT FVSHFRDRAV AGHLTRAVEP
110 120 130 140 150
LRTFSVLEPG GPGGCAARRR ATVEETARAA DCRVAQNGGF FRMNSGECLG
160 170 180 190 200
NVVSDERRVS SSGGLQNAQF GIRRDGTLVT GYLSEEEVLD TENPFVQLLS
210 220 230 240 250
GVVWLIRNGS IYINESQATE CDETQETGSF SKFVNVISAR TAIGHDRKGQ
260 270 280 290 300
LVLFHADGQT EQRGINLWEM AEFLLKQDVV NAINLDGGGS ATFVLNGTLA
310 320 330 340 350
SYPSDHCQDN MWRCPRQVST VVCVHEPRCQ PPDCHGHGTC VDGHCQCTGH
360 370 380 390 400
FWRGPGCDEL DCGPSNCSQH GLCTETGCRC DAGWTGSNCS EECPLGWHGP
410 420 430 440 450
GCQRPCKCEH HCPCDPKTGN CSVSRVKQCL QPPEATLRAG ELSFFTRTAW
460 470 480 490 500
LALTLALAFL LLISTAANLS LLLSRAERNR RLHGDYAYHP LQEMNGEPLA
510
AEKEQPGGAH NPFKD
Length:515
Mass (Da):56,073
Last modified:May 18, 2010 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i9B80335E7F9DBAA9
GO
Isoform 2 (identifier: Q9UK23-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     392-425: Missing.

Show »
Length:481
Mass (Da):52,368
Checksum:i2FC910C7DB777505
GO
Isoform 3 (identifier: Q9UK23-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     307-309: CQD → WQA
     310-515: Missing.

Show »
Length:309
Mass (Da):33,577
Checksum:i270763749113C946
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
K7EPH3K7EPH3_HUMAN
N-acetylglucosamine-1-phosphodieste...
NAGPA
315Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
K7EK96K7EK96_HUMAN
N-acetylglucosamine-1-phosphodieste...
NAGPA
40Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
K7ERI4K7ERI4_HUMAN
N-acetylglucosamine-1-phosphodieste...
NAGPA
190Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
K7EL75K7EL75_HUMAN
N-acetylglucosamine-1-phosphodieste...
NAGPA
172Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
K7EJ25K7EJ25_HUMAN
N-acetylglucosamine-1-phosphodieste...
NAGPA
104Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti259Q → H in AAF08273 (PubMed:10551838).Curated1
Sequence conflicti405P → R in AAF08273 (PubMed:10551838).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_07322584H → Q Rare variant; found in individuals suffering from stuttering; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs755458782EnsemblClinVar.1
Natural variantiVAR_073226328R → C Rare variant; found in individuals suffering from stuttering; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs139526942EnsemblClinVar.1
Natural variantiVAR_020609465T → I1 PublicationCorresponds to variant dbSNP:rs7188856EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_012267307 – 309CQD → WQA in isoform 3. 1 Publication3
Alternative sequenceiVSP_012268310 – 515Missing in isoform 3. 1 PublicationAdd BLAST206
Alternative sequenceiVSP_012269392 – 425Missing in isoform 2. 1 PublicationAdd BLAST34

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
AF187072 mRNA Translation: AAF08273.1
AK127952 mRNA Translation: BAG54605.1
AK314320 mRNA Translation: BAG36968.1
AC026458 Genomic DNA No translation available.
CH471112 Genomic DNA Translation: EAW85245.1
BC012194 mRNA Translation: AAH12194.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS10527.1 [Q9UK23-1]

NCBI Reference Sequences

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RefSeqi
NP_057340.2, NM_016256.3 [Q9UK23-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000312251; ENSP00000310998; ENSG00000103174 [Q9UK23-1]
ENST00000381955; ENSP00000371381; ENSG00000103174 [Q9UK23-2]
ENST00000562746; ENSP00000455900; ENSG00000103174 [Q9UK23-3]
ENST00000649828; ENSP00000498032; ENSG00000103174 [Q9UK23-3]

Database of genes from NCBI RefSeq genomes

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GeneIDi
51172

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:51172

UCSC genome browser

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UCSCi
uc002cyg.4, human [Q9UK23-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF187072 mRNA Translation: AAF08273.1
AK127952 mRNA Translation: BAG54605.1
AK314320 mRNA Translation: BAG36968.1
AC026458 Genomic DNA No translation available.
CH471112 Genomic DNA Translation: EAW85245.1
BC012194 mRNA Translation: AAH12194.1
CCDSiCCDS10527.1 [Q9UK23-1]
RefSeqiNP_057340.2, NM_016256.3 [Q9UK23-1]

3D structure databases

SMRiQ9UK23
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi119351, 16 interactors
IntActiQ9UK23, 13 interactors
MINTiQ9UK23
STRINGi9606.ENSP00000310998

Chemistry databases

ChEMBLiCHEMBL5920
DrugBankiDB00141, N-Acetylglucosamine

PTM databases

GlyGeniQ9UK23, 6 sites
iPTMnetiQ9UK23
PhosphoSitePlusiQ9UK23

Polymorphism and mutation databases

BioMutaiNAGPA
DMDMi296439239

Proteomic databases

EPDiQ9UK23
jPOSTiQ9UK23
MassIVEiQ9UK23
PaxDbiQ9UK23
PeptideAtlasiQ9UK23
PRIDEiQ9UK23
ProteomicsDBi84708 [Q9UK23-1]
84709 [Q9UK23-2]
84710 [Q9UK23-3]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...
Antibodypediai
24469, 36 antibodies

Genome annotation databases

EnsembliENST00000312251; ENSP00000310998; ENSG00000103174 [Q9UK23-1]
ENST00000381955; ENSP00000371381; ENSG00000103174 [Q9UK23-2]
ENST00000562746; ENSP00000455900; ENSG00000103174 [Q9UK23-3]
ENST00000649828; ENSP00000498032; ENSG00000103174 [Q9UK23-3]
GeneIDi51172
KEGGihsa:51172
UCSCiuc002cyg.4, human [Q9UK23-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
51172
DisGeNETi51172
EuPathDBiHostDB:ENSG00000103174.11

GeneCards: human genes, protein and diseases

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GeneCardsi
NAGPA
HGNCiHGNC:17378, NAGPA
HPAiENSG00000103174, Low tissue specificity
MIMi607985, gene
neXtProtiNX_Q9UK23
OpenTargetsiENSG00000103174
PharmGKBiPA134940049

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG502QRY5, Eukaryota
GeneTreeiENSGT01000000214453
HOGENOMiCLU_031673_1_0_1
InParanoidiQ9UK23
KOiK01125
OMAiGEVYINQ
OrthoDBi18592at2759
PhylomeDBiQ9UK23
TreeFamiTF331920

Enzyme and pathway databases

UniPathwayiUPA00378
BRENDAi3.1.4.45, 2681
PathwayCommonsiQ9UK23

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

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BioGRID-ORCSi
51172, 8 hits in 868 CRISPR screens

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
NAGPA

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
51172
PharosiQ9UK23, Tbio

Protein Ontology

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PROi
PR:Q9UK23
RNActiQ9UK23, protein

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000103174, Expressed in anterior cingulate cortex and 208 other tissues
ExpressionAtlasiQ9UK23, baseline and differential
GenevisibleiQ9UK23, HS

Family and domain databases

InterProiView protein in InterPro
IPR013032, EGF-like_CS
IPR000742, EGF-like_dom
IPR018711, NAGPA
PfamiView protein in Pfam
PF09992, NAGPA, 1 hit
PROSITEiView protein in PROSITE
PS00022, EGF_1, 1 hit
PS01186, EGF_2, 1 hit
PS50026, EGF_3, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiNAGPA_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9UK23
Secondary accession number(s): B2RAS1, Q96EJ8
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 21, 2004
Last sequence update: May 18, 2010
Last modified: August 12, 2020
This is version 159 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 16
    Human chromosome 16: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
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