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] See more...

Aliases for NAGA Gene

Aliases for NAGA Gene

  • Alpha-N-Acetylgalactosaminidase 2 3 4 5
  • Alpha-Galactosidase B 2 3 4
  • N-Acetylgalactosaminidase, Alpha- 2 3
  • EC 3.2.1.49 4 52
  • Acetylgalactosaminidase, Alpha-N- (Alpha-Galactosidase B) 3
  • EC 3.2.1 52
  • 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 (Alpha-N-Acetylgalactosaminidase) is a Protein Coding gene. Diseases associated with NAGA include Kanzaki Disease and Schindler Disease, Type I. Among its related pathways are Metabolism and Globo Sphingolipid Metabolism. Gene Ontology (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 Summary 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

Additional gene information for NAGA Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NAGA Gene

Genomics for NAGA Gene

GeneHancer (GH) Regulatory Elements for NAGA Gene

Promoters and enhancers for NAGA Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NAGA on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NAGA

Top Transcription factor binding sites by QIAGEN in the NAGA gene promoter:
  • AML1a
  • AREB6
  • c-Myb
  • c-Myc
  • GR
  • GR-alpha
  • Max1
  • MyoD

Genomic Locations for NAGA Gene

Genomic Locations for NAGA Gene
chr22:42,058,334-42,070,871
(GRCh38/hg38)
Size:
12,538 bases
Orientation:
Minus strand
chr22:42,454,338-42,466,846
(GRCh37/hg19)
Size:
12,509 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; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for NAGA Gene

neXtProt entry for NAGA Gene

Selected DME Specific Peptides for NAGA Gene

P17050:
  • MSTDLRTIS
  • ASALVFFS
  • DILQNPL
  • AQDGWRD
  • GLKLGIY
  • NFTVIINPSGVVMWYL
  • SCSWPAY
  • ALNATGRP
  • WNDPDML

Post-translational modifications for NAGA Gene

  • Glycosylation at Asn124, Asn177, Asn201, Asn359, and Asn385
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • NAGAB_HUMAN (45)

Other Protein References for NAGA Gene

Domains & Families for NAGA Gene

Gene Families for NAGA Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for NAGA Gene

Blocks:
  • Glycosyl hydrolase family 27 signature
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for NAGA Gene

GenScript: Design optimal peptide antigens:
  • N-acetylgalactosaminidase, alpha- (B8ZZ35_HUMAN)
  • N-acetylgalactosaminidase, alpha- (B8ZZ36_HUMAN)
  • Alpha-galactosidase B (NAGAB_HUMAN)

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

Function for NAGA Gene

Molecular function for NAGA Gene

UniProtKB/Swiss-Prot Function:
Removes terminal alpha-N-acetylgalactosamine residues from glycolipids and glycopeptides. Required for the breakdown of glycolipids.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=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.; EC=3.2.1.49; Evidence=. ;.
GENATLAS Biochemistry:
acetyl-galactosaminidase,alpha-N-,lyposomal,catalyzing the degradation of alpha-N-acetylgalactosaminyl-containing glycoconjugates

Enzyme Numbers (IUBMB) for NAGA Gene

Phenotypes From GWAS Catalog 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 IEA --
GO:0004557 alpha-galactosidase activity IBA 21873635
GO:0008456 alpha-N-acetylgalactosaminidase activity TAS,IDA 19683538
GO:0016787 hydrolase activity IEA --
GO:0016798 hydrolase activity, acting on glycosyl bonds IEA --
genes like me logo Genes that share ontologies with NAGA: view
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 Naga<tm1a(EUCOMM)Wtsi>

Animal Model Products

CRISPR Products

miRNA for NAGA Gene

miRTarBase miRNAs that target NAGA

Clone Products

No data available for 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NAGA gene
Compartment Confidence
lysosome 5
extracellular 2
cytosol 2
plasma membrane 1
cytoskeleton 1
mitochondrion 1
peroxisome 1
nucleus 1
endoplasmic reticulum 1
endosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for NAGA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA 21873635
GO:0005764 lysosome IEA --
GO:0070062 extracellular exosome HDA 23533145
genes like me logo Genes that share ontologies with NAGA: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for NAGA Gene

Pathways & Interactions for NAGA Gene

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

Pathways by source for NAGA Gene

Gene Ontology (GO) - Biological Process for NAGA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process IEA --
GO:0008152 metabolic process IEA --
GO:0009311 oligosaccharide metabolic process IBA 21873635
GO:0016052 carbohydrate catabolic process IDA 19683538
GO:0016139 glycoside catabolic process IBA 21873635
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Glycerol Approved, Investigational Pharma Target 208
Water Approved Pharma 0
glucosamine 6-phosphate Experimental Pharma Target 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
N-Acetyl-b-D-galactosamine
  • 2-acetamido-2-Deoxy-beta-D-galactopyranoside
  • beta-GalNAc
  • BGalNAc
  • 2-acetamido-2-Deoxy-b-D-galactopyranoside
  • 2-acetamido-2-Deoxy-β-D-galactopyranoside
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
genes like me logo Genes that share compounds with NAGA: view

Transcripts for NAGA Gene

mRNA/cDNA for NAGA Gene

3 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

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

Expression for NAGA Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for NAGA Gene



Protein tissue co-expression partners for NAGA Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NAGA

SOURCE GeneReport for Unigene cluster for NAGA Gene:

Hs.75372

Evidence on tissue expression from TISSUES for NAGA Gene

  • Liver(4.4)
  • Lung(4.3)
  • Nervous system(2.5)
  • Kidney(2.1)
  • Blood(2)
  • Intestine(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for NAGA Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • lymphatic
  • nervous
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • face
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • skull
Thorax:
  • chest wall
  • clavicle
  • heart
  • heart valve
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • kidney
  • liver
Pelvis:
  • pelvis
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • nail
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • hair
  • lymph node
  • lymph vessel
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns 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 31 30
  • 99.68 (n)
OneToOne
cow
(Bos Taurus)
Mammalia NAGA 31 30
  • 87.83 (n)
OneToOne
dog
(Canis familiaris)
Mammalia NAGA 31 30
  • 87.27 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Naga 30
  • 83.5 (n)
mouse
(Mus musculus)
Mammalia Naga 17 31 30
  • 81.99 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 75 (a)
OneToMany
-- 31
  • 66 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia NAGA 31
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves NAGA 31 30
  • 73.96 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NAGA 31
  • 70 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia naga 30
  • 56.93 (n)
zebrafish
(Danio rerio)
Actinopterygii naga 31 30
  • 67 (n)
OneToOne
Dr.11718 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009621 30
  • 59.29 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG5731 31 32 30
  • 57.91 (n)
ManyToMany
CG7997 31 32
  • 45 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea gana-1 31 30
  • 48.65 (n)
OneToMany
R07B7.11 32
  • 45 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G56310 30
  • 50.2 (n)
rice
(Oryza sativa)
Liliopsida Os07g0679300 30
  • 49.12 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 37 (a)
OneToMany
Species where no ortholog for NAGA was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for NAGA: view image

Paralogs for NAGA Gene

Paralogs for NAGA Gene

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

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

Variants for NAGA Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NAGA Gene

SNP ID Clinical significance and condition Chr 22 pos Variation AA Info Type
643747 Uncertain Significance: Schindler disease, type 1 42,070,282(-) C/T MISSENSE_VARIANT
658016 Uncertain Significance: Schindler disease, type 1 42,067,209(-) C/G MISSENSE_VARIANT
660319 Uncertain Significance: Schindler disease, type 1 42,067,128(-) C/T MISSENSE_VARIANT
667287 Uncertain Significance: not specified 42,060,926(-) CAT/C NONSENSE
682642 Benign: not provided 42,070,976(-) A/T

Additional dbSNP identifiers (rs#s) for NAGA Gene

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

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)

Additional Variant Information for NAGA Gene

Human Gene Mutation Database (HGMD)
NAGA
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NAGA

SNP Genotyping and Copy Number Assay Products

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

Disorders for NAGA Gene

MalaCards: The human disease database

(17) MalaCards diseases for NAGA Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
kanzaki disease
  • alpha-n-acetylgalactosaminidase deficiency, type ii
schindler disease, type i
  • neuroaxonal dystrophy, schindler type
schindler disease
  • schindler disease, type i
angiokeratoma
  • angiokeratoma of skin
neurodegeneration with brain iron accumulation 2a
  • nbia2a
- 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
  • 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.

Genatlas disease for NAGA Gene

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

Additional Disease Information for NAGA

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

Publications for NAGA Gene

  1. The 1.9 a structure of human alpha-N-acetylgalactosaminidase: The molecular basis of Schindler and Kanzaki diseases. (PMID: 19683538) Clark NE … Garman SC (Journal of molecular biology 2009) 3 4 23 54
  2. A new case of alpha-N-acetylgalactosaminidase deficiency with angiokeratoma corporis diffusum, with Ménière's syndrome and without mental retardation. (PMID: 11251574) Kodama K … Kanzaki T (The British journal of dermatology 2001) 3 4 23 54
  3. Degradation of blood group A glycolipid A-6-2 by normal and mutant human skin fibroblasts. (PMID: 9741689) Asfaw B … Conzelmann E (Journal of lipid research 1998) 3 4 23 54
  4. Human alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency: new mutations and the paradox between genotype and phenotype. (PMID: 8782044) Keulemans JL … van Diggelen OP (Journal of medical genetics 1996) 3 4 23 54
  5. The molecular lesion in the alpha-N-acetylgalactosaminidase gene that causes angiokeratoma corporis diffusum with glycopeptiduria. (PMID: 8040340) Wang AM … Desnick RJ (The Journal of clinical investigation 1994) 3 4 23 54

Products for NAGA Gene