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Aliases for NAGA Gene

Aliases for NAGA Gene

  • N-Acetylgalactosaminidase, Alpha- 2 3
  • Alpha-Galactosidase B 3 4
  • EC 3.2.1.49 4 63
  • Acetylgalactosaminidase, Alpha-N- (Alpha-Galactosidase B) 3
  • Alpha-N-Acetylgalactosaminidase 3
  • EC 3.2.1 63
  • D22S674 3
  • GALB 3

External Ids for NAGA Gene

Summaries for NAGA Gene

Entrez Gene Summary for NAGA Gene

  • 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]

GeneCards Summary for NAGA Gene

NAGA (N-Acetylgalactosaminidase, Alpha-) is a Protein Coding gene. Diseases associated with NAGA include schindler disease, type i and kanzaki disease. Among its related pathways are Lysosome and Glycosphingolipid biosynthesis - globo series. GO annotations related to this gene include protein homodimerization activity and alpha-N-acetylgalactosaminidase activity. An important paralog of this gene is GLA.

UniProtKB/Swiss-Prot for NAGA Gene

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

Gene Wiki entry for NAGA Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NAGA Gene

Genomics for NAGA Gene

Genomic Location for NAGA Gene

Start:
42,058,334 bp from pter
End:
42,070,842 bp from pter
Size:
12,509 bases
Orientation:
Minus strand

Genomic View for NAGA Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for NAGA Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NAGA Gene

Regulatory Elements for NAGA Gene

Proteins for NAGA Gene

  • Protein details for NAGA Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P17050-NAGAB_HUMAN
    Recommended name:
    Alpha-N-acetylgalactosaminidase
    Protein Accession:
    P17050
    Secondary Accessions:

    Protein attributes for NAGA Gene

    Size:
    411 amino acids
    Molecular mass:
    46565 Da
    Quaternary structure:
    • Homodimer.
    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
    SequenceCaution:
    • Sequence=AAA59902.1; Type=Frameshift; Positions=320; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for NAGA Gene

neXtProt entry for NAGA Gene

Proteomics data for NAGA Gene at MOPED

Selected DME Specific Peptides for NAGA Gene

Post-translational modifications for NAGA Gene

  • Modification sites at PhosphoSitePlus
  • Glycosylation at Asn124, Asn177, Asn201, Asn359, and Asn385

Other Protein References for NAGA Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains for NAGA Gene

Suggested Antigen Peptide Sequences for NAGA Gene

Graphical View of Domain Structure for InterPro Entry

P17050

UniProtKB/Swiss-Prot:

NAGAB_HUMAN
Family:
  • Belongs to the glycosyl hydrolase 27 family.:
    • P17050
genes like me logo Genes that share domains with NAGA: view

No data available for Gene Families for NAGA Gene

Function for NAGA Gene

Molecular function for NAGA Gene

GENATLAS Biochemistry: acetyl-galactosaminidase,alpha-N-,lyposomal,catalyzing the degradation of alpha-N-acetylgalactosaminyl-containing glycoconjugates
UniProtKB/Swiss-Prot CatalyticActivity: 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.
UniProtKB/Swiss-Prot Function: Removes terminal alpha-N-acetylgalactosamine residues from glycolipids and glycopeptides. Required for the breakdown of glycolipids.

Enzyme Numbers (IUBMB) for NAGA Gene

Gene Ontology (GO) - Molecular Function for NAGA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004553 hydrolase activity, hydrolyzing O-glycosyl compounds --
GO:0004557 alpha-galactosidase activity IBA --
GO:0008456 alpha-N-acetylgalactosaminidase activity IDA 19683538
GO:0042803 protein homodimerization activity IPI 19683538
genes like me logo Genes that share ontologies with NAGA: view

Phenotypes for NAGA Gene

genes like me logo Genes that share phenotypes with NAGA: view

miRNA for NAGA Gene

miRTarBase miRNAs that target NAGA

No data available for Animal Models , Transcription Factor Targeting and HOMER Transcription for NAGA Gene

Localization for NAGA Gene

Subcellular locations from UniProtKB/Swiss-Prot for NAGA Gene

Lysosome.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for NAGA Gene COMPARTMENTS Subcellular localization image for NAGA gene
Compartment Confidence
lysosome 5
vacuole 5
extracellular 2
cytosol 1
endoplasmic reticulum 1
peroxisome 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for NAGA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA --
GO:0005764 lysosome IEA --
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with NAGA: view

Pathways for NAGA Gene

genes like me logo Genes that share pathways with NAGA: view

Pathways by source for NAGA Gene

Interacting Proteins for NAGA Gene

Gene Ontology (GO) - Biological Process for NAGA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process --
GO:0009311 oligosaccharide metabolic process IBA --
GO:0016052 carbohydrate catabolic process IDA 19683538
GO:0016139 glycoside catabolic process IBA --
GO:0019377 glycolipid catabolic process IMP 9741689
genes like me logo Genes that share ontologies with NAGA: view

Compounds for NAGA Gene

(2) HMDB Compounds for NAGA Gene

Compound Synonyms Cas Number PubMed IDs
Tetrahexosylceramide (d18:1/12:0)
  • CQH
11034-93-8
Water
  • Dihydrogen oxide
7732-18-5

(1) Drugbank Compounds for NAGA Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Glycerol
target

(9) Novoseek inferred chemical compound relationships for NAGA Gene

Compound -log(P) Hits PubMed IDs
p-aminobenzoate 65.5 1
gal(beta1-3)galnac 61.3 1
glycolipid 45.5 2
periodate 37.1 1
n-acetylglucosamine 32.9 1
genes like me logo Genes that share compounds with NAGA: view

Transcripts for NAGA Gene

mRNA/cDNA for NAGA Gene

Unigene Clusters for NAGA Gene

N-acetylgalactosaminidase, alpha-:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for NAGA Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10
SP1:
SP2: -
SP3:
SP4: -

Relevant External Links for NAGA Gene

GeneLoc Exon Structure for
NAGA
ECgene alternative splicing isoforms for
NAGA

Expression for NAGA Gene

mRNA expression in normal human tissues for NAGA Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for NAGA Gene

This gene is overexpressed in Whole Blood (4.1).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for NAGA Gene

SOURCE GeneReport for Unigene cluster for NAGA Gene Hs.75372

genes like me logo Genes that share expressions with NAGA: view

No data available for mRNA Expression by UniProt/SwissProt for NAGA Gene

Orthologs for NAGA Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for NAGA Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NAGA 35
  • 99.68 (n)
  • 99.51 (a)
NAGA 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia NAGA 35
  • 87.83 (n)
  • 85.75 (a)
NAGA 36
  • 86 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NAGA 35
  • 87.27 (n)
  • 84.43 (a)
NAGA 36
  • 84 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Naga 35
  • 81.99 (n)
  • 82.89 (a)
Naga 16
Naga 36
  • 82 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia NAGA 36
  • 72 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 75 (a)
OneToMany
-- 36
  • 66 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Naga 35
  • 83.5 (n)
  • 82.76 (a)
chicken
(Gallus gallus)
Aves NAGA 35
  • 73.96 (n)
  • 75.06 (a)
NAGA 36
  • 69 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NAGA 36
  • 70 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia naga 35
  • 56.93 (n)
  • 57.43 (a)
zebrafish
(Danio rerio)
Actinopterygii Dr.11718 35
naga 35
  • 67 (n)
  • 67.67 (a)
naga 36
  • 62 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009621 35
  • 59.29 (n)
  • 53.94 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG5731 35
  • 57.91 (n)
  • 55.5 (a)
CG5731 36
  • 50 (a)
ManyToMany
CG7997 36
  • 45 (a)
ManyToMany
CG7997 37
  • 46 (a)
CG5731 37
  • 52 (a)
worm
(Caenorhabditis elegans)
Secernentea gana-1 35
  • 48.65 (n)
  • 44.92 (a)
gana-1 36
  • 39 (a)
OneToMany
R07B7.11 37
  • 45 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G56310 35
  • 50.2 (n)
  • 44.01 (a)
rice
(Oryza sativa)
Liliopsida Os07g0679300 35
  • 49.12 (n)
  • 44.12 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 37 (a)
OneToMany
Species with no ortholog for NAGA:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for NAGA Gene

ENSEMBL:
Gene Tree for NAGA (if available)
TreeFam:
Gene Tree for NAGA (if available)

Paralogs for NAGA Gene

Paralogs for NAGA Gene

Selected SIMAP similar genes for NAGA Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with NAGA: view

Variants for NAGA Gene

Sequence variations from dbSNP and Humsavar for NAGA Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type MAF
rs133365 -- 42,064,477(+) TACTA(-/A/AA)AAAAA intron-variant
rs133366 -- 42,066,791(+) GCAGC(-/C)ATCTT frameshift-variant, reference
rs133367 -- 42,067,362(+) GACCC(C/T)GTCCC intron-variant
rs133368 -- 42,067,685(+) AATCA(C/T)GTAAG intron-variant
rs133369 -- 42,067,810(+) GGATC(C/T)GGCAT synonymous-codon, reference, intron-variant

Structural Variations from Database of Genomic Variants (DGV) for NAGA Gene

Variant ID Type Subtype PubMed ID
nsv508737 CNV Insertion 20534489
nsv834210 CNV Loss 17160897
nsv915161 CNV Loss 21882294
dgv4981n71 CNV Loss 21882294

Relevant External Links for NAGA Gene

HapMap Linkage Disequilibrium report
NAGA
Human Gene Mutation Database (HGMD)
NAGA

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NAGA Gene

Disorders for NAGA Gene

(2) OMIM Diseases for NAGA Gene (104170)

UniProtKB/Swiss-Prot

NAGAB_HUMAN
  • Schindler disease (SCHIND) [MIM:609241]: Form 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. {ECO:0000269 PubMed:2243144, ECO:0000269 PubMed:8782044}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Kanzaki disease (KANZD) [MIM:609242]: Autosomal recessive disorder characterized by late-onset, angiokeratoma corporis diffusum and mild intellectual impairment. {ECO:0000269 PubMed:11251574, ECO:0000269 PubMed:8040340}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(16) Novoseek inferred disease relationships for NAGA Gene

Disease -log(P) Hits PubMed IDs
neuroaxonal dystrophies 91.7 5
neuroaxonal dystrophy, infantile 89.6 3
angiokeratoma 83.6 2
fucosidosis 81.7 4
fabry disease 81.3 10

Genatlas disease for NAGA Gene

angiokeratoma corporis diffusum with glycopeptiduria,Schindler,Seitelberger disease,neuroaxonal dystrophy,infantile and adult types
genes like me logo Genes that share disorders with NAGA: view

Publications for NAGA Gene

  1. Structural organization and complete sequence of the human alpha-N- acetylgalactosaminidase gene: homology with the alpha-galactosidase A gene provides evidence for evolution from a common ancestral gene. (PMID: 1646157) Wang A.M. … Desnick R.J. (Genomics 1991) 3 4 23
  2. Human alpha-N-acetylgalactosaminidase-molecular cloning, nucleotide sequence, and expression of a full-length cDNA. Homology with human alpha-galactosidase A suggests evolution from a common ancestral gene. (PMID: 2174888) Wang A.M. … Desnick R.J. (J. Biol. Chem. 1990) 3 4 23
  3. Molecular cloning of two species of cDNAs for human alpha-N- acetylgalactosaminidase and expression in mammalian cells. (PMID: 2372288) Yamauchi T. … Tsuji S. (Biochem. Biophys. Res. Commun. 1990) 3 4 23
  4. The molecular lesion in the alpha-N-acetylgalactosaminidase gene that causes angiokeratoma corporis diffusum with glycopeptiduria. (PMID: 8040340) Wang A.M. … Desnick R.J. (J. Clin. Invest. 1994) 3 4 23
  5. Human alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency: new mutations and the paradox between genotype and phenotype. (PMID: 8782044) Keulemans J.L.M. … van Diggelen O.P. (J. Med. Genet. 1996) 3 4 23

Products for NAGA Gene

Sources for NAGA Gene

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