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

    Gene ID: 4668, updated on 6-Sep-2022

    Summary

    Official Symbol
    NAGAprovided by HGNC
    Official Full Name
    alpha-N-acetylgalactosaminidaseprovided by HGNC
    Primary source
    HGNC:HGNC:7631
    See related
    Ensembl:ENSG00000198951 MIM:104170; AllianceGenome:HGNC:7631
    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]
    Expression
    Ubiquitous expression in placenta (RPKM 20.0), appendix (RPKM 15.7) and 25 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See NAGA in Genome Data Viewer
    Location:
    22q13.2
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    110 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (42058334..42070842, complement)
    110 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (42537918..42550425, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (42454338..42466846, complement)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene solute carrier family 25 member 5 pseudogene 1 Neighboring gene WBP2 N-terminal like Neighboring gene CYP2D6 downstream enhancer Neighboring gene uncharacterized LOC107985551 Neighboring gene small nucleolar RNA, C/D box 13 pseudogene 1 Neighboring gene PH domain containing endocytic trafficking adaptor 2 Neighboring gene single-pass membrane protein with aspartate rich tail 1

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Alpha-N-acetylgalactosaminidase deficiency type 1
    MedGen: C1836544 OMIM: 609241 GeneReviews: Not available
    Compare labs
    Alpha-N-acetylgalactosaminidase deficiency type 2
    MedGen: C1836522 OMIM: 609242 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    Biological insights from 108 schizophrenia-associated genetic loci.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables alpha-N-acetylgalactosaminidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables alpha-galactosidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables protein homodimerization activity IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in carbohydrate catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in glycolipid catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in glycoside catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in glycosylceramide catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in oligosaccharide metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in extracellular exosome HDA PubMed 
    located_in lysosome IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    alpha-N-acetylgalactosaminidase
    Names
    Acetylgalactosaminidase, alpha-N- (alpha-galactosidase B)
    N-acetylgalactosaminidase, alpha-
    alpha-galactosidase B
    NP_000253.1
    NP_001349777.1
    NP_001349779.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      5031..17509
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000262.3NP_000253.1  alpha-N-acetylgalactosaminidase precursor

      See identical proteins and their annotated locations for NP_000253.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript variant. Variants 1-3 encode the same protein.
      Source sequence(s)
      BE734247, CB988165, M38083, Z99716
      Consensus CDS
      CCDS14030.1
      UniProtKB/Swiss-Prot
      P17050
      UniProtKB/TrEMBL
      A0A024R1Q5
      Related
      ENSP00000379680.3, ENST00000396398.8
      Conserved Domains (1) summary
      cl07893
      Location:25394
      AmyAc_family; Alpha amylase catalytic domain family
    2. NM_001362848.1NP_001349777.1  alpha-N-acetylgalactosaminidase precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1-3 encode the same protein.
      Source sequence(s)
      Z99716
      Consensus CDS
      CCDS14030.1
      UniProtKB/Swiss-Prot
      P17050
      UniProtKB/TrEMBL
      A0A024R1Q5
      Related
      ENSP00000384603.1, ENST00000402937.1
      Conserved Domains (1) summary
      cl07893
      Location:25394
      AmyAc_family; Alpha amylase catalytic domain family
    3. NM_001362850.1NP_001349779.1  alpha-N-acetylgalactosaminidase precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, compared to variant 1. Variants 1-3 encode the same protein.
      Source sequence(s)
      Z99716
      Consensus CDS
      CCDS14030.1
      UniProtKB/Swiss-Prot
      P17050
      UniProtKB/TrEMBL
      A0A024R1Q5
      Related
      ENSP00000385283.1, ENST00000403363.5
      Conserved Domains (1) summary
      cl07893
      Location:25394
      AmyAc_family; Alpha amylase catalytic domain family

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      42058334..42070842 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      42537918..42550425 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)