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

Gene ID: 4668, updated on 8-Dec-2018

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
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

Genomic context

See NAGA in Genome Data Viewer
Location:
22q13.2
Exon count:
9
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 22 NC_000022.11 (42058334..42070896, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (42454338..42466852, complement)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene WBP2 N-terminal like Neighboring gene solute carrier family 25 member 5 pseudogene 1 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 FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Kanzaki disease
MedGen: C1836522 OMIM: 609242 GeneReviews: Not available
Compare labs
Schindler disease, type 1
MedGen: C1836544 OMIM: 609241 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Biological insights from 108 schizophrenia-associated genetic loci.
NHGRI GWA Catalog

Pathways from BioSystems

  • Glycosphingolipid biosynthesis - globo and isoglobo series, organism-specific biosystem (from KEGG)
    Glycosphingolipid biosynthesis - globo and isoglobo series, organism-specific biosystem
    Glycosphingolipid biosynthesis - globo and isoglobo series
  • Lysosome, organism-specific biosystem (from KEGG)
    Lysosome, organism-specific biosystemLysosomes are membrane-delimited organelles in animal cells serving as the cell's main digestive compartment to which all sorts of macromolecules are delivered for degradation. They contain more than...
  • Lysosome, conserved biosystem (from KEGG)
    Lysosome, conserved biosystemLysosomes are membrane-delimited organelles in animal cells serving as the cell's main digestive compartment to which all sorts of macromolecules are delivered for degradation. They contain more than...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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
PubMed 
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
PubMed 
glycosylceramide catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
oligosaccharide metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
extracellular exosome HDA PubMed 
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
XP_005261672.1
XP_005261673.1

NCBI Reference Sequences (RefSeq)

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_000262.2NP_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, ENST00000396398.7
    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
    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
    Conserved Domains (1) summary
    cl07893
    Location:25394
    AmyAc_family; Alpha amylase catalytic domain family

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p12 Primary Assembly

    Range
    42058334..42070896 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005261616.5XP_005261673.1  alpha-N-acetylgalactosaminidase isoform X1

    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
  2. XM_005261615.4XP_005261672.1  alpha-N-acetylgalactosaminidase isoform X1

    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
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