Sign in to NCBI

Display Settings:

Format

Send to:

Choose Destination
We are sorry, but NCBI web applications do not support your browser and may not function properly. More information

    NAGA N-acetylgalactosaminidase, alpha- [ Homo sapiens (human) ]

    Gene ID: 4668, updated on 9-Jun-2013
    Official Symbol
    NAGAprovided by HGNC
    Official Full Name
    N-acetylgalactosaminidase, alpha-provided by HGNC
    Primary source
    HGNC:7631
    See related
    Ensembl:ENSG00000198951; HPRD:00076; MIM:104170; Vega:OTTHUMG00000151276
    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
    GALB; D22S674
    Summary
    NAGA encodes the lysosomal enzyme alpha-N-acetylgalactosaminidase, which cleaves alpha-N-acetylgalactosaminyl moieties from glycoconjugates. Mutations in NAGA have been identified as the cause of Schindler disease types I and II (type II also known as Kanzaki disease). [provided by RefSeq, Jul 2008]
    Location :
    22q11
    Sequence :
    Chromosome: 22; NC_000022.10 (42454338..42466846, complement)
    See NAGA in Epigenomics, MapViewer

    Chromosome 22 - NC_000022.10Genomic Context describing neighboring genes Neighboring gene septin 3 Neighboring gene solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5 pseudogene 1 Neighboring gene WBP2 N-terminal like Neighboring gene family with sequence similarity 109, member B Neighboring gene single-pass membrane protein with aspartate-rich tail 1

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details

    Related articles in PubMed

    1. Proteomic identification of common SCF ubiquitin ligase FBXO6-interacting glycoproteins in three kinds of cells. Liu B, et al. J Proteome Res, 2012 Mar 2. PMID 22268729.
    2. Systematic and quantitative assessment of the ubiquitin-modified proteome. Kim W, et al. Mol Cell, 2011 Oct 21. PMID 21906983.
    3. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. Oláh J, et al. J Biol Chem, 2011 Sep 30. PMID 21832049.
    4. Interconversion of the specificities of human lysosomal enzymes associated with Fabry and Schindler diseases. Tomasic IB, et al. J Biol Chem, 2010 Jul 9. PMID 20444686.
    5. Use of a modified alpha-N-acetylgalactosaminidase in the development of enzyme replacement therapy for Fabry disease. Tajima Y, et al. Am J Hum Genet, 2009 Nov. PMID 19853240.

    See all (30) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. the active sites of human lysosomal enzymes alpha-galactosidase and alpha-N-acetylgalactosaminidase have interconvertible specificites
      Title: Interconversion of the specificities of human lysosomal enzymes associated with Fabry and Schindler diseases.
    2. Use of a modified NAGA in the development of enzyme replacement therapy for Fabry disease is reported.
      Title: Use of a modified alpha-N-acetylgalactosaminidase in the development of enzyme replacement therapy for Fabry disease.
    3. The active site of human alpha-NAGAL has anomeric selectivity for its catalytic product and the structure reveals a novel active-site rearrangement upon hexose ligand binding.
      Title: The 1.9 a structure of human alpha-N-acetylgalactosaminidase: The molecular basis of Schindler and Kanzaki diseases.
    4. Specific enzymatic activity of serum alpha-N-acetylgalactosaminidase was significantly increased in stage III melanoma patients, but not in early stages.
      Title: Serum proteomic profile of cutaneous malignant melanoma and relation to cancer progression: association to tumor derived alpha-N-acetylgalactosaminidase activity.
    5. NAGA mutation p.D217N (c.649G>A) in exon 6 and mutation p.E325K (c.973G>A) in exon 8 may have roles in alpha-N-acetylgalactosaminidase deficiency with cardiomyopathy
      Title: A new infantile case of alpha-N-acetylgalactosaminidase deficiency. Cardiomyopathy as a presenting symptom.
    6. Tumor cell alpha-N-acetylgalactosaminidase activity and its involvement in GcMAF-related macrophage activation.
      Title: Tumor cell alpha-N-acetylgalactosaminidase activity and its involvement in GcMAF-related macrophage activation.
    7. Structural analysis revealed biochemical and phenotypic differences in these Kanzaki patients with the R329Q and R329W mutation.
      Title: Three dimensional structural studies of alpha-N-acetylgalactosaminidase (alpha-NAGA) in alpha-NAGA deficiency (Kanzaki disease): different gene mutations cause peculiar structural changes in alpha-NAGAs resulting in different substrate specificities and clinical phenotypes.
    Submit: New GeneRIF Correction

    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Products Interactant Other Gene Complex Source Pubs Description
    P17050 P63211 GNGT1    HPRD  PubMed  
    BioGRID:110749 BioGRID:106848 APP    BioGRID  PubMed Reconstituted Complex 
    BioGRID:110749 BioGRID:117654 FBXO6    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110749 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS 

    Markers

    Genotypes

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    alpha-N-acetylgalactosaminidase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    alpha-galactosidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    protein homodimerization activity IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    carbohydrate catabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    glycolipid catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    glycoside catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    glycosylceramide catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    oligosaccharide metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    lysosome IEA
    Inferred from Electronic Annotation
    more info
    		  
    Preferred Names
    alpha-N-acetylgalactosaminidase
    Names
    alpha-N-acetylgalactosaminidase
    alpha-galactosidase B
    Acetylgalactosaminidase, alpha-N- (alpha-galactosidase B)
    NP_000253.1

    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_009247.1 RefSeqGene

      Range
      5001..17509
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000262.2 → NP_000253.1  alpha-N-acetylgalactosaminidase precursor

      Status: REVIEWED

      Source sequence(s)
      BE734247, CB988165, M38083, Z99716
      Consensus CDS
      CCDS14030.1
      UniProtKB/Swiss-Prot
      P17050
      Related
      ENSP00000379680, OTTHUMP00000199656, ENST00000396398, OTTHUMT00000322056
      Conserved Domains (1) summary
      cl11402
      Location:17 – 402
      Blast Score: 711
      GH31; The enzymes of glycosyl hydrolase family 31 (GH31) occur in prokaryotes, eukaryotes, and archaea with a wide range of hydrolytic activities, including alpha-glucosidase (glucoamylase and sucrase-isomaltase), alpha-xylosidase, 6-alpha-glucosyltransferase, ...

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

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

    Reference GRCh37.p10 Primary Assembly

    Genomic

    1. NC_000022.10 Reference GRCh37.p10 Primary Assembly

      Range
      42454338..42466846, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000154.1 Alternate HuRef

      Range
      25420503..25433033, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.0

    Genomic

    1. NC_018933.1 Alternate CHM1_1.0

      Range
      26370582..26383088, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    genomic ABBA01055661.1 (50122..62652) None
    genomic AMYH01012809.1 (410..12916) None
    genomic CH471095.1 EAW60484.1
      EAW60485.1
      EAW60486.1
    genomic M59199.1 AAB06718.1
    genomic Z99716.4 (201574..214082) None
    mRNA BC000095.2 AAH00095.1
    mRNA BE734247.1 None
    mRNA CB988165.1 None
    mRNA CR456527.1 CAG30413.1
    mRNA M29276.1 AAA59902.1
    mRNA M38083.1 AAA36351.1
    mRNA M62783.1 AAA51677.1
    other-genetic CU013127.1 CAK54558.1
    other-genetic CU013415.1 CAK54857.1
    other-genetic DQ891874.2 ABM82800.1
    other-genetic DQ895062.2 ABM85988.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    P17050.2 GenPept UniProtKB/Swiss-Prot:P17050

    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Medical
    Molecular Biology Databases
    Research Materials
    Tools
    Miscellaneous

      Supplemental Content

      Table of contents

      Related information

      • Order cDNA clone
        Order cDNA clone
      • 3D structures
        3D structure of a gene
      • BioAssay
        Related PubChem BioAssays
      • BioProjects
        BioProjects related to a gene
      • BioSystems
        BioSystems
      • CCDS
        Links from Gene to CCDS are established if a gene encodes a protein sequence that is a member of a Consensus CDS (CCDS).
      • ClinVar
        Related medical variations
      • Conserved Domains
        Conserved Domain Database Links between Entrez Gene and Conserved Domain Database (CDD) are calculated from the domains annotated by the CDD group on Reference Sequence proteins.
      • dbVar
        Link from Gene to dbVar
      • EST
        Link to related EST entry
      • Full text in PMC
        PMC links
      • Full text in PMC_nucleotide
        Full text in PubMedCentral identified from shared sequence links
      • Genome
        Genome records having the gene annotated on corresponding genomic reference sequence.
      • GEO Profiles
        Related GEO
      • GTR
        GTR associated with a gene
      • HomoloGene
        Links between HomoloGene and Gene are provided by the HomoloGene group when a gene is included in a HomoloGene record.
      • Map Viewer
        These links are maintained by the Map Viewer group and are provided when a GeneID is annotated on a map for the same species.
      • MedGen
        Related information in MedGen
      • Nucleotide
        Link to related Nucleotide entry
      • OMIM
        Links between OMIM and Gene are calculated by Gene based on MIM numbers included in the summary and phenotype sections of the Gene record.
      • Probe
        Related Probe entry
      • Protein
        Link to related protein entry
      • PubChem Compound
        PubChem Compounds
      • PubChem Substance
        PubChem Substances
      • PubMed
        Links between Gene and PubMed are the result of the following: 1. Manual curation within NCBI. Part of the process of generating a REVIEWED RefSeq is an analysis of the current literature. Papers that are seminal in defining the gene, its sequence, and its function are added to the record at that time. Alert users point out gaps or errors in papers associated with a Gene record. These messages are reviewed and implemented as required. 2. Integration of information from other public databases. Gene integrates gene-citation from resources external to NCBI such as model organism-specific databases, Gene Ontology (GO), groups curating interactions, and sequence databases. The assumption in using these source is that they report citations specific to a gene in a known species. Gene does not process citations from OMIM automatically, because many of citations in OMIM refer to studies of genes in species other than human.
      • PubMed (GeneRIF)
        GeneRIF -- Gene Reference Into Function Staff of the Index Section in the National Library of Medicine review the current literature. When they find articles focused on the structure and function of a gene, they write a brief summary of the impact of the paper and make the connection between the citation (PubMed) and Gene. An interface exists for interested users to submit such data as well. http://www.ncbi.nlm.nih.gov/projects/GeneRIF/GeneRIFhelp.html
      • PubMed (OMIM)
        Links are provided when Gene has a link to a record in OMIM, and OMIM explicitly cites these publications in PubMed.
      • PubMed(nucleotide/PMC)
        Citations in PubMed identified from shared sequence and PMC links.
      • RefSeq Proteins
        Link to Protein RefSeqs
      • RefSeq RNAs
        Link to Nucleotide RefSeq RNAs
      • RefSeqGene
        Link to Nucleotide RefSeqGenes
      • SNP
        Related SNP records
      • SNP: GeneView
        SNPs linked from GeneView
      • SNP: Genotype
        Gene Genotype Report
      • SNP: VarView
        Related Clinical SNP
      • Taxonomy
        Link to related taxonomy entry
      • UniGene
        Links are provided between Gene and UniGene when both databases calculate links to the same mRNA record (gi).
      • UniSTS
        Related UniSTS records

      Links to other resources

      General information

      Related sites

      Feedback

      Subscription

      Recent activity

      Clear Turn Off Turn On

      Your browsing activity is empty.

      Activity recording is turned off.

      Turn recording back on

      See more...