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Protein

Alpha-N-acetylgalactosaminidase

Gene

NAGA

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

Removes terminal alpha-N-acetylgalactosamine residues from glycolipids and glycopeptides. Required for the breakdown of glycolipids.1 Publication

Miscellaneous

Alpha-galactosidase B was first found to be an isoenzyme of alpha-galactosidases, but apparently it differs from alpha-galactosidase A in substrate specificity and is alpha-N-acetylgalactosaminidase.

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">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

  • Cleavage of non-reducing alpha-(1->3)-N-acetylgalactosamine residues from human blood group A and AB mucin glycoproteins, Forssman hapten and blood group A lacto series glycolipids.1 Publication EC:3.2.1.49

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei154Substrate1
<p>This subsection of the ‘Function’ section is used for enzymes and indicates the residues directly involved in catalysis.<p><a href='/help/act_site' target='_top'>More...</a></p>Active sitei156Nucleophile1
Binding sitei188Substrate1
Binding sitei213Substrate1
Active sitei217Proton donor1
Binding sitei217Substrate1

<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

  • alpha-galactosidase activity Source: GO_Central
  • alpha-N-acetylgalactosaminidase activity Source: UniProtKB
  • protein homodimerization activity Source: UniProtKB

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 functionGlycosidase, Hydrolase

Enzyme and pathway databases

BioCyc Collection of Pathway/Genome Databases

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BioCyci
MetaCyc:HS01993-MONOMER

BRENDA Comprehensive Enzyme Information System

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BRENDAi
3.2.1.49 2681

SABIO-RK: Biochemical Reaction Kinetics Database

More...
SABIO-RKi
P17050

Protein family/group databases

Carbohydrate-Active enZymes

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CAZyi
GH27 Glycoside Hydrolase Family 27

Chemistry databases

SwissLipids knowledge resource for lipid biology

More...
SwissLipidsi
SLP:000001402

<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_and_taxonomy_section">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:
Alpha-N-acetylgalactosaminidase (EC:3.2.1.49)
Alternative name(s):
Alpha-galactosidase B
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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:NAGA
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_manual">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 22

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000198951.11

Human Gene Nomenclature Database

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HGNCi
HGNC:7631 NAGA

Online Mendelian Inheritance in Man (OMIM)

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MIMi
104170 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P17050

<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; Source: COMPARTMENTS

Keywords - Cellular componenti

Lysosome

<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

Schindler disease (SCHIND)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionForm of NAGA deficiency characterized by early-onset neuroaxonal dystrophy and neurological signs (convulsion during fever, epilepsy, psychomotor retardation and hypotonia). NAGA deficiency is typically classified in three main phenotypes: NAGA deficiency type I (Schindler disease or Schindler disease type I) with severe manifestations; NAGA deficiency type II (Kanzazi disease or Schindler disease type II) which is mild; NAGA deficiency type III (Schindler disease type III) characterized by mild-to-moderate neurologic manifestations. NAGA deficiency results in the increased urinary excretion of glycopeptides and oligosaccharides containing alpha-N-acetylgalactosaminyl moieties. Inheritance is autosomal recessive.
See also OMIM:609241
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_000496160S → C in SCHIND; type III. 1 PublicationCorresponds to variant dbSNP:rs121434532EnsemblClinVar.1
Natural variantiVAR_000497325E → K in SCHIND; type I and type III. 2 PublicationsCorresponds to variant dbSNP:rs121434529EnsemblClinVar.1
Kanzaki disease (KANZD)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAutosomal recessive disorder characterized by late-onset, angiokeratoma corporis diffusum and mild intellectual impairment.
See also OMIM:609242
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_022525329R → Q in KANZD. 1 PublicationCorresponds to variant dbSNP:rs121434533EnsemblClinVar.1
Natural variantiVAR_000498329R → W in KANZD; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs121434530EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'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>Mutagenesisi201N → Q: Loss of glycosylation site; no effect on enzyme activity and stability. 1 Publication1

Keywords - Diseasei

Disease mutation, Epilepsy

Organism-specific databases

DisGeNET

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DisGeNETi
4668

MalaCards human disease database

More...
MalaCardsi
NAGA
MIMi609241 phenotype
609242 phenotype

Open Targets

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OpenTargetsi
ENSG00000198951

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
79279 Alpha-N-acetylgalactosaminidase deficiency type 1
79280 Alpha-N-acetylgalactosaminidase deficiency type 2
79281 Alpha-N-acetylgalactosaminidase deficiency type 3

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA31435

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL3132

Drug and drug target database

More...
DrugBanki
DB04077 Glycerol

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
NAGA

Domain mapping of disease mutations (DMDM)

More...
DMDMi
127801

<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 – 171 PublicationAdd BLAST17
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000000101818 – 411Alpha-N-acetylgalactosaminidaseAdd BLAST394

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 bondi38 ↔ 801 Publication
Disulfide bondi42 ↔ 491 Publication
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">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>Glycosylationi124N-linked (GlcNAc...) asparagine1 Publication1
Disulfide bondi127 ↔ 1581 Publication
Glycosylationi177N-linked (GlcNAc...) asparagine2 Publications1
Disulfide bondi187 ↔ 2091 Publication
Glycosylationi201N-linked (GlcNAc...) asparagine1 Publication1
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei322PhosphoserineCombined sources1
Modified residuei332PhosphoserineCombined sources1
Glycosylationi359N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi385N-linked (GlcNAc...) asparagine1 Publication1

Keywords - PTMi

Disulfide bond, Glycoprotein, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
P17050

MaxQB - The MaxQuant DataBase

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MaxQBi
P17050

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

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PaxDbi
P17050

PeptideAtlas

More...
PeptideAtlasi
P17050

PRoteomics IDEntifications database

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PRIDEi
P17050

ProteomicsDB human proteome resource

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ProteomicsDBi
53450

PTM databases

GlyConnect protein glycosylation platform

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GlyConnecti
45

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
P17050

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

More...
PhosphoSitePlusi
P17050

UniCarbKB; an annotated and curated database of glycan structures

More...
UniCarbKBi
P17050

<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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000198951 Expressed in 194 organ(s), highest expression level in leukocyte

CleanEx database of gene expression profiles

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CleanExi
HS_NAGA

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
P17050 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
P17050 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA000649

<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_section">'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_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Homodimer.1 Publication

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
110749, 5 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000379680

<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

Secondary structure

1411
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
P17050

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

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SMRi
P17050

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

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EvolutionaryTracei
P17050

<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

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>Regioni78 – 79Substrate binding2

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the glycosyl hydrolase 27 family.Curated

Keywords - Domaini

Signal

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG2366 Eukaryota
ENOG410XPF1 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00390000008751

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000161224

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG001989

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
P17050

KEGG Orthology (KO)

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KOi
K01204

Identification of Orthologs from Complete Genome Data

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OMAi
DDLWDRW

Database of Orthologous Groups

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OrthoDBi
EOG091G0BGV

Database for complete collections of gene phylogenies

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PhylomeDBi
P17050

TreeFam database of animal gene trees

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TreeFami
TF312909

Family and domain databases

Conserved Domains Database

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CDDi
cd14792 GH27, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
2.60.40.1180, 1 hit
3.20.20.70, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR013785 Aldolase_TIM
IPR002241 Glyco_hydro_27
IPR000111 Glyco_hydro_27/36_CS
IPR013780 Glyco_hydro_b
IPR017853 Glycoside_hydrolase_SF
IPR035373 Melibiase/NAGA_C

The PANTHER Classification System

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PANTHERi
PTHR11452 PTHR11452, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF16499 Melibiase_2, 1 hit
PF17450 Melibiase_2_C, 1 hit

Protein Motif fingerprint database; a protein domain database

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PRINTSi
PR00740 GLHYDRLASE27

Superfamily database of structural and functional annotation

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SUPFAMi
SSF51445 SSF51445, 1 hit

PROSITE; a protein domain and family database

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PROSITEi
View protein in PROSITE
PS00512 ALPHA_GALACTOSIDASE, 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_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequencei

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">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_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">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.

P17050-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MLLKTVLLLG HVAQVLMLDN GLLQTPPMGW LAWERFRCNI NCDEDPKNCI
60 70 80 90 100
SEQLFMEMAD RMAQDGWRDM GYTYLNIDDC WIGGRDASGR LMPDPKRFPH
110 120 130 140 150
GIPFLADYVH SLGLKLGIYA DMGNFTCMGY PGTTLDKVVQ DAQTFAEWKV
160 170 180 190 200
DMLKLDGCFS TPEERAQGYP KMAAALNATG RPIAFSCSWP AYEGGLPPRV
210 220 230 240 250
NYSLLADICN LWRNYDDIQD SWWSVLSILN WFVEHQDILQ PVAGPGHWND
260 270 280 290 300
PDMLLIGNFG LSLEQSRAQM ALWTVLAAPL LMSTDLRTIS AQNMDILQNP
310 320 330 340 350
LMIKINQDPL GIQGRRIHKE KSLIEVYMRP LSNKASALVF FSCRTDMPYR
360 370 380 390 400
YHSSLGQLNF TGSVIYEAQD VYSGDIISGL RDETNFTVII NPSGVVMWYL
410
YPIKNLEMSQ Q
Length:411
Mass (Da):46,565
Last modified:March 1, 1992 - 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:i781A0728C0B29CD9
GO

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAA59902 differs from that shown. Reason: Frameshift at position 320.Curated

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 conflicti24Q → N AA sequence (PubMed:2256909).Curated1
Sequence conflicti165R → A in AAA59902 (PubMed:1646157).Curated1
Sequence conflicti175A → G in AAA59902 (PubMed:1646157).Curated1
Sequence conflicti205L → Q in AAA59902 (PubMed:1646157).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_000496160S → C in SCHIND; type III. 1 PublicationCorresponds to variant dbSNP:rs121434532EnsemblClinVar.1
Natural variantiVAR_000497325E → K in SCHIND; type I and type III. 2 PublicationsCorresponds to variant dbSNP:rs121434529EnsemblClinVar.1
Natural variantiVAR_022525329R → Q in KANZD. 1 PublicationCorresponds to variant dbSNP:rs121434533EnsemblClinVar.1
Natural variantiVAR_000498329R → W in KANZD; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs121434530EnsemblClinVar.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
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
M62783 mRNA Translation: AAA51677.1
M59199 Genomic DNA Translation: AAB06718.1
M29276 mRNA Translation: AAA59902.1 Frameshift.
M38083 mRNA Translation: AAA36351.1
CR456527 mRNA Translation: CAG30413.1
Z99716 Genomic DNA No translation available.
BC000095 mRNA Translation: AAH00095.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS14030.1

Protein sequence database of the Protein Information Resource

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PIRi
A33265
A36530 A35485

NCBI Reference Sequences

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RefSeqi
NP_000253.1, NM_000262.2
XP_005261672.1, XM_005261615.4
XP_005261673.1, XM_005261616.4

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.75372

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000396398; ENSP00000379680; ENSG00000198951
ENST00000402937; ENSP00000384603; ENSG00000198951
ENST00000403363; ENSP00000385283; ENSG00000198951

Database of genes from NCBI RefSeq genomes

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GeneIDi
4668

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:4668

UCSC genome browser

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UCSCi
uc003bbw.5 human

<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
M62783 mRNA Translation: AAA51677.1
M59199 Genomic DNA Translation: AAB06718.1
M29276 mRNA Translation: AAA59902.1 Frameshift.
M38083 mRNA Translation: AAA36351.1
CR456527 mRNA Translation: CAG30413.1
Z99716 Genomic DNA No translation available.
BC000095 mRNA Translation: AAH00095.1
CCDSiCCDS14030.1
PIRiA33265
A36530 A35485
RefSeqiNP_000253.1, NM_000262.2
XP_005261672.1, XM_005261615.4
XP_005261673.1, XM_005261616.4
UniGeneiHs.75372

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3H53X-ray2.01A/B18-411[»]
3H54X-ray2.20A/B18-411[»]
3H55X-ray1.91A/B18-411[»]
3IGUX-ray2.15A/B18-411[»]
4DO4X-ray1.40A/B18-411[»]
4DO5X-ray1.51A/B18-411[»]
4DO6X-ray1.60A/B18-411[»]
ProteinModelPortaliP17050
SMRiP17050
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi110749, 5 interactors
STRINGi9606.ENSP00000379680

Chemistry databases

ChEMBLiCHEMBL3132
DrugBankiDB04077 Glycerol
SwissLipidsiSLP:000001402

Protein family/group databases

CAZyiGH27 Glycoside Hydrolase Family 27

PTM databases

GlyConnecti45
iPTMnetiP17050
PhosphoSitePlusiP17050
UniCarbKBiP17050

Polymorphism and mutation databases

BioMutaiNAGA
DMDMi127801

Proteomic databases

EPDiP17050
MaxQBiP17050
PaxDbiP17050
PeptideAtlasiP17050
PRIDEiP17050
ProteomicsDBi53450

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
4668
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000396398; ENSP00000379680; ENSG00000198951
ENST00000402937; ENSP00000384603; ENSG00000198951
ENST00000403363; ENSP00000385283; ENSG00000198951
GeneIDi4668
KEGGihsa:4668
UCSCiuc003bbw.5 human

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
4668
DisGeNETi4668
EuPathDBiHostDB:ENSG00000198951.11

GeneCards: human genes, protein and diseases

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GeneCardsi
NAGA
HGNCiHGNC:7631 NAGA
HPAiHPA000649
MalaCardsiNAGA
MIMi104170 gene
609241 phenotype
609242 phenotype
neXtProtiNX_P17050
OpenTargetsiENSG00000198951
Orphaneti79279 Alpha-N-acetylgalactosaminidase deficiency type 1
79280 Alpha-N-acetylgalactosaminidase deficiency type 2
79281 Alpha-N-acetylgalactosaminidase deficiency type 3
PharmGKBiPA31435

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiKOG2366 Eukaryota
ENOG410XPF1 LUCA
GeneTreeiENSGT00390000008751
HOGENOMiHOG000161224
HOVERGENiHBG001989
InParanoidiP17050
KOiK01204
OMAiDDLWDRW
OrthoDBiEOG091G0BGV
PhylomeDBiP17050
TreeFamiTF312909

Enzyme and pathway databases

BioCyciMetaCyc:HS01993-MONOMER
BRENDAi3.2.1.49 2681
SABIO-RKiP17050

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
NAGA human
EvolutionaryTraceiP17050

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
NAGA_(gene)

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

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GenomeRNAii
4668

Protein Ontology

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PROi
PR:P17050

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000198951 Expressed in 194 organ(s), highest expression level in leukocyte
CleanExiHS_NAGA
ExpressionAtlasiP17050 baseline and differential
GenevisibleiP17050 HS

Family and domain databases

CDDicd14792 GH27, 1 hit
Gene3Di2.60.40.1180, 1 hit
3.20.20.70, 1 hit
InterProiView protein in InterPro
IPR013785 Aldolase_TIM
IPR002241 Glyco_hydro_27
IPR000111 Glyco_hydro_27/36_CS
IPR013780 Glyco_hydro_b
IPR017853 Glycoside_hydrolase_SF
IPR035373 Melibiase/NAGA_C
PANTHERiPTHR11452 PTHR11452, 1 hit
PfamiView protein in Pfam
PF16499 Melibiase_2, 1 hit
PF17450 Melibiase_2_C, 1 hit
PRINTSiPR00740 GLHYDRLASE27
SUPFAMiSSF51445 SSF51445, 1 hit
PROSITEiView protein in PROSITE
PS00512 ALPHA_GALACTOSIDASE, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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 nameiNAGAB_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: P17050
<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_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 1, 1990
Last sequence update: March 1, 1992
Last modified: December 5, 2018
This is version 193 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

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human chromosome 22
    Human chromosome 22: entries, gene names and cross-references to MIM
  4. Glycosyl hydrolases
    Classification of glycosyl hydrolase families and list of entries
  5. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  6. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  7. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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