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Aliases for NAGA Gene

Aliases for NAGA Gene

  • N-Acetylgalactosaminidase, Alpha- 2 3 5
  • Alpha-Galactosidase B 3 4
  • EC 3.2.1.49 4 63
  • Acetylgalactosaminidase, Alpha-N- (Alpha-Galactosidase B) 3
  • EC 3.2.1 63
  • D22S674 3
  • GALB 3

External Ids for NAGA Gene

Previous GeneCards Identifiers for NAGA Gene

  • GC22M039068
  • GC22M040697
  • GC22M040778
  • GC22M040784
  • GC22M042428
  • GC22M025420

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 kanzaki disease and schindler disease, type i. Among its related pathways are Glycosphingolipid biosynthesis - globo series and Lysosome. GO annotations related to this gene include protein homodimerization activity and alpha-galactosidase 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

Regulatory Elements for NAGA Gene

Promoters for NAGA Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around NAGA on UCSC Golden Path with GeneCards custom track

Genomic Location for NAGA Gene

Chromosome:
22
Start:
42,058,334 bp from pter
End:
42,070,871 bp from pter
Size:
12,538 bases
Orientation:
Minus strand

Genomic View for NAGA Gene

Genes around NAGA on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NAGA Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NAGA Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

    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
  • Modification sites at neXtProt

Other Protein References for NAGA Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • R&D Systems Antibodies for NAGA (alpha-N-acetylgalactosaminidase/NAGA)

Domains & Families for NAGA Gene

Suggested Antigen Peptide Sequences for NAGA Gene

Graphical View of Domain Structure for InterPro Entry

P17050

UniProtKB/Swiss-Prot:

NAGAB_HUMAN :
  • Belongs to the glycosyl hydrolase 27 family.
Family:
  • Belongs to the glycosyl hydrolase 27 family.
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

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

Human Phenotype Ontology for NAGA Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for NAGA Gene

MGI Knock Outs for NAGA:
  • Naga tm1a(EUCOMM)Wtsi

Animal Model Products

miRNA for NAGA Gene

miRTarBase miRNAs that target NAGA

No data available for Gene Ontology (GO) - Molecular Function , Transcription Factor Targets 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
extracellular 5
lysosome 5
vacuole 5
cytosol 1
endoplasmic reticulum 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for NAGA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA --
genes like me logo Genes that share ontologies with NAGA: view

Pathways & Interactions 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:0019377 glycolipid catabolic process IMP 9741689
genes like me logo Genes that share ontologies with NAGA: view

No data available for SIGNOR curated interactions for NAGA Gene

Drugs & Compounds for NAGA Gene

(2) Drugs for NAGA Gene - From: Novoseek, DrugBank, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Glycerol Experimental Pharma Target 191

(11) Additional Compounds for NAGA Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
N-Acetyl-b-D-galactosamine
  • 2-Deoxy-2-acetamido-b-D-galactopyranose
  • 2-Deoxy-2-acetamido-beta-D-galactopyranose
  • 2-Deoxy-2-acetamido-beta-delta-galactopyranose
  • b-D-2-Acetamido-2-deoxy-Galactopyranose
  • b-N-Acetyl-D-galactosamine
14131-60-3
Tetrahexosylceramide (d18:1/12:0)
  • CQH
  • Cytolipin K
  • GalNAc-beta1->3Gal-alpha1->3Gal-beta1->4Glc-beta1->1'Cer
  • Ganglioside Gb4
  • Ganglioside GL 4
11034-93-8
Water
  • Dihydrogen oxide
  • Steam
7732-18-5
genes like me logo Genes that share compounds with NAGA: view

Transcripts 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 (x4.1).

Protein differential expression in normal tissues from HIPED for NAGA Gene

This gene is overexpressed in Cerebrospinal fluid (17.0).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with NAGA: view

Protein tissue co-expression partners for NAGA Gene

- Elite partner

Primer Products

In Situ Assay Products

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
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
chimpanzee
(Pan troglodytes)
Mammalia NAGA 35
  • 99.68 (n)
  • 99.51 (a)
NAGA 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Naga 35
  • 83.5 (n)
  • 82.76 (a)
oppossum
(Monodelphis domestica)
Mammalia NAGA 36
  • 72 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 75 (a)
OneToMany
-- 36
  • 66 (a)
OneToMany
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
fruit fly
(Drosophila melanogaster)
Insecta CG5731 37
  • 52 (a)
CG7997 37
  • 46 (a)
CG5731 35
  • 57.91 (n)
  • 55.5 (a)
CG5731 36
  • 50 (a)
ManyToMany
CG7997 36
  • 45 (a)
ManyToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009621 35
  • 59.29 (n)
  • 53.94 (a)
worm
(Caenorhabditis elegans)
Secernentea R07B7.11 37
  • 45 (a)
gana-1 35
  • 48.65 (n)
  • 44.92 (a)
gana-1 36
  • 39 (a)
OneToMany
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

(1) 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
rs121434532 Schindler disease (SCHIND) 42,067,136(-) CTTCT(C/G)CACCC reference, missense
VAR_000497 Schindler disease (SCHIND)
VAR_000498 Kanzaki disease (KANZD)
rs121434533 Kanzaki disease (KANZD) 42,061,039(-) CATGC(A/G)GCCTC reference, missense
rs133365 -- 42,064,495(+) AAAAA(-/A/AA)TTAGC 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

Variation tolerance for NAGA Gene

Residual Variation Intolerance Score: 38.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.11; 22.56% of all genes are more intolerant (likely to be disease-causing)

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

MalaCards: The human disease database

(15) MalaCards diseases for NAGA Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
kanzaki disease
  • alpha-n-acetylgalactosaminidase deficiency adult onset
schindler disease, type i
  • schindler disease, type iii
alpha-n-acetylgalactosaminidase deficiency type 3
  • naga deficiency type 3
schindler disease
  • schindler disease, type i
neuroaxonal dystrophy
  • neuroaxonal dystrophies
- elite association - COSMIC cancer census association via MalaCards
Search NAGA in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

NAGAB_HUMAN
  • 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.
  • 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.

Genatlas disease for NAGA Gene

angiokeratoma corporis diffusum with glycopeptiduria,Schindler,Seitelberger disease,neuroaxonal dystrophy,infantile and adult types

Relevant External Links for NAGA

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NAGA
genes like me logo Genes that share disorders with NAGA: view

Publications for NAGA Gene

  1. 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 67
  2. Serum proteomic profile of cutaneous malignant melanoma and relation to cancer progression: association to tumor derived alpha-N-acetylgalactosaminidase activity. (PMID: 19394758) Greco M. … Maffia M. (Cancer Lett. 2009) 3 23
  3. The 1.9 A structure of human alpha-N-acetylgalactosaminidase: the molecular basis of Schindler and Kanzaki diseases. (PMID: 19683538) Clark N.E. … Garman S.C. (J. Mol. Biol. 2009) 3 23
  4. Use of a modified alpha-N-acetylgalactosaminidase in the development of enzyme replacement therapy for Fabry disease. (PMID: 19853240) Tajima Y. … Sakuraba H. (Am. J. Hum. Genet. 2009) 3 23
  5. A new infantile case of alpha-N-acetylgalactosaminidase deficiency. Cardiomyopathy as a presenting symptom. (PMID: 17171432) ChabA!s A. … Gort L. (J. Inherit. Metab. Dis. 2007) 3 23

Products for NAGA Gene

Sources for NAGA Gene

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