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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

NAGA Gene

protein-coding   GIFtS: 63
GCID: GC22M042428

N-Acetylgalactosaminidase, Alpha-

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
N-Acetylgalactosaminidase, Alpha-1 2     GALB2
Alpha-Galactosidase B2 3     Acetylgalactosaminidase, Alpha-N- (Alpha-Galactosidase B)2
EC 3.2.1.493 8     alpha-N-acetylgalactosaminidase2
D22S6742     EC 3.2.18

External Ids:    HGNC: 76311   Entrez Gene: 46682   Ensembl: ENSG000001989517   OMIM: 1041705   UniProtKB: P170503   

Export aliases for NAGA gene to outside databases

Previous GC identifers: GC22M039068 GC22M040697 GC22M040778 GC22M040784 GC22M025420


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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. GO annotations related to this gene include alpha-galactosidase activity and protein homodimerization activity. An important paralog of this gene is GLA.

UniProtKB/Swiss-Prot: NAGAB_HUMAN, P17050
Function: Removes terminal alpha-N-acetylgalactosamine residues from glycolipids and glycopeptides. Required for
the breakdown of glycolipids

Gene Wiki entry for NAGA Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000022.10  NT_011520.12  NC_018933.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the NAGA gene promoter:
         GR   Max1   AREB6   AML1a   MyoD   c-Myb   GR-alpha   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNAGA promoter sequence
   Search SABiosciences Chromatin IP Primers for NAGA

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NAGA


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 22q11   Ensembl cytogenetic band:  22q13.2   HGNC cytogenetic band: 22q13.2

NAGA Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NAGA gene location

GeneLoc information about chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22M042428:  view genomic region     (about GC identifiers)

Start:
42,454,338 bp from pter      End:
42,466,846 bp from pter
Size:
12,509 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: NAGAB_HUMAN, P17050 (See protein sequence)
Recommended Name: Alpha-N-acetylgalactosaminidase precursor  
Size: 411 amino acids; 46565 Da
Subunit: Homodimer
Subcellular location: Lysosome
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
Sequence caution: Sequence=AAA59902.1; Type=Frameshift; Positions=320;
6/7 PDB 3D structures from and Proteopedia for NAGA (see all 7):
3H53 (3D)        3H54 (3D)        3H55 (3D)        3IGU (3D)        4DO4 (3D)        4DO5 (3D)    

Explore the universe of human proteins at neXtProt for NAGA: NX_P17050

Explore proteomics data for NAGA at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P17050

  • 4/9 DME Specific Peptides for NAGA (P17050) (see all 9)
     GLKLGIY  AQDGWRD  DILQNPL  SCSWPAY 

    NAGA Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    NAGA Protein Expression
    REFSEQ proteins: NP_000253.1  
    ENSEMBL proteins: 
     ENSP00000379680   ENSP00000385283   ENSP00000384603  

    Human Recombinant Protein Products for NAGA: 
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    Novus Biologicals NAGA Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IBA--
    GO:0005764lysosome IEA--

    NAGA for ontologies           About GeneDecksing



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    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5 InterPro protein domains:
     IPR013785 Aldolase_TIM
     IPR017853 Glycoside_hydrolase_SF
     IPR002241 Glyco_hydro_27
     IPR000111 Glyco_hydro_GHD
     IPR013780 Glyco_hydro_13_b

    Graphical View of Domain Structure for InterPro Entry P17050

    ProtoNet protein and cluster: P17050

    1 Blocks protein domain: IPB002241 Glycosyl hydrolase family 27 signature

    UniProtKB/Swiss-Prot: NAGAB_HUMAN, P17050
    Similarity: Belongs to the glycosyl hydrolase 27 family


    NAGA for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: NAGAB_HUMAN, P17050
    Function: Removes terminal alpha-N-acetylgalactosamine residues from glycolipids and glycopeptides. Required for
    the breakdown of glycolipids
    Catalytic activity: 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

         Genatlas biochemistry entry for NAGA:
    acetyl-galactosaminidase,alpha-N-,lyposomal,catalyzing the degradation of alpha-N-acetylgalactosaminyl-containing
    glycoconjugates

         Enzyme Numbers (IUBMB): EC 3.2.1.491 2 EC 3.2.12

         Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004553hydrolase activity, hydrolyzing O-glycosyl compounds ----
    GO:0004557alpha-galactosidase activity IBA--
    GO:0008456alpha-N-acetylgalactosaminidase activity IDA19683538
    GO:0042803protein homodimerization activity IPI19683538
         
    NAGA for ontologies           About GeneDecksing


    Phenotypes:
         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Naga):
     homeostasis/metabolism 

    NAGA for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for NAGA 
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    SwitchGear 3'UTR luciferase reporter plasmidNAGA 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for NAGA About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Lysosome
    Lysosome
    2Glycosphingolipid biosynthesis - globo series
    Glycosphingolipid biosynthesis - globo series

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways




    2         Kegg Pathways  (Kegg details for NAGA):
        Glycosphingolipid biosynthesis - globo series
    Lysosome


    NAGA for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for NAGA

    STRING Interaction Network Preview (showing 5 interactants - click image to see 6)

    5/15 Interacting proteins for NAGA (P170503 ENSP000003796804) via UniProtKB, MINT, STRING, and/or I2D (see all 15)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GNGT1P632113, ENSP000002485724I2D: score=1 STRING: ENSP00000248572
    AKT3Q9Y2433I2D: score=1 
    CCNA1P783963I2D: score=1 
    CDK5Q005353I2D: score=1 
    MPPE1Q53F393I2D: score=1 
    About this table

    Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005975carbohydrate metabolic process ----
    GO:0009311oligosaccharide metabolic process IBA--
    GO:0016052carbohydrate catabolic process IDA19683538
    GO:0016139glycoside catabolic process IBA--
    GO:0019377glycolipid catabolic process IMP9741689

    NAGA for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    NAGA for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for NAGA (NAGAB)

    2 HMDB Compounds for NAGA    About this table
    CompoundSynonyms CAS #PubMed Ids
    Tetrahexosylceramide (d18:1/12:0)CQH (see all 21)11034-93-8--
    WaterDihydrogen oxide (see all 2)7732-18-5--

    1 DrugBank Compound for NAGA    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Glycerol-- --target--17139284 17016423 10592235

    9 Novoseek inferred chemical compound relationships for NAGA gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    p-aminobenzoate 65.5 1 2229011 (1)
    gal(beta1-3)galnac 61.3 1 9653936 (1)
    glycolipid 45.5 2 1418679 (1), 9741689 (1)
    periodate 37.1 1 9247192 (1)
    n-acetylglucosamine 32.9 1 17455791 (1)
    atp 0 1 1749310 (1)
    glucose 0 1 10456768 (1)
    carbohydrates 0 1 9808090 (1)
    carbon 0 1 17455791 (1)

    Search CenterWatch for drugs/clinical trials and news about NAGA / NAGAB

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for NAGA gene: 
    NM_000262.2  

    Unigene Cluster for NAGA:

    N-acetylgalactosaminidase, alpha-
    Hs.75372  [show with all ESTs]
    Unigene Representative Sequence: NM_000262
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000396398(uc003bbw.4) ENST00000403363 ENST00000402937
    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmidNAGA 3' UTR sequence
    Inhib. RNA
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    Additional mRNA sequence: 

    BC000095.2 CR456527.1 M29276.1 M38083.1 M62783.1 

    16 DOTS entries:

    DT.100823590  DT.455140  DT.100823595  DT.100823594  DT.95107270  DT.100698611  DT.95107235  DT.100823593 
    DT.100643645  DT.100696225  DT.100696639  DT.100712149  DT.100719562  DT.100823598  DT.95107273  DT.100777208 

    24/336 AceView cDNA sequences (see all 336):

    CA454117 CR591632 BQ001662 BX387246 M38083 CR621618 CR592922 BC000095 
    CR601288 CR612931 CR623556 BX374419 BX367373 BU170376 BX090389 BQ645779 
    CR618231 CR610763 BU584187 BI769830 CR595848 CR599558 F03932 CR595327 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for NAGA    About this scheme

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


    ECgene alternative splicing isoforms for NAGA

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    NAGA expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGATTGGCTT
    NAGA Expression
    About this image


    See NAGA Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for NAGA

    SOURCE GeneReport for Unigene cluster: Hs.75372
        SABiosciences Custom PCR Arrays for NAGA
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NAGA

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for NAGA gene from 8/16 species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Naga1 , 5 N-acetyl galactosaminidase, alpha1, 5 81.99(n)1
    82.89(a)1
      15 (38.56 cM)5
    179391  NM_008669.41  NP_032695.31 
     823295325 
    chicken
    (Gallus gallus)
    Aves NAGA1 N-acetylgalactosaminidase, alpha- 73.96(n)
    75.06(a)
      396547  NM_001167728.1  NP_001161200.1 
    lizard
    (Anolis carolinensis)
    Reptilia NAGA6
    --
    Uncharacterized protein
    70(a)
    55(a)
    1 ↔ 1
    possible ortholog
    5(27065125-27074871)
    GL343691.1(214999-226208)
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.117182 Transcribed sequence with weak similarity to protein pirA35485 (H.sapiens) A35485 alpha-N-acetylgalactosaminidase (EC 3.2.1.49) precursor, splice form 2 - human less 75.61(n)    57090518 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG57313
    CG79971
    alpha-N-acetylgalactosaminidase3
    CG79971
    52(a)
    (best of 2)3
    55.3(n)1
    48.46(a)1
      31B13
    368291  NM_137275.31  NP_611119.11 
    worm
    (Caenorhabditis elegans)
    Secernentea R07B7.113 alpha-N-acetylgalactosaminidase 45(a)   V(12089834-12091423)   --
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT3G563101 alpha-galactosidase 50.1(n)
    44.01(a)
      824798  NM_115489.5  NP_191190.2 
    rice
    (Oryza sativa)
    Liliopsida Os07g06793001 hypothetical protein 49.12(n)
    44.12(a)
      4344290  NM_001067174.1  NP_001060639.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for NAGA gene
    GLA2  
    2 SIMAP similar genes for NAGA using alignment to 1 protein entry:     NAGAB_HUMAN:
    GLA    alpha-GalA

    NAGA for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/407 SNPs in NAGA are shown (see all 407)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 22 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0004984
    Kanzaki disease (KANZD)4--see VAR_0004982 R W mis40--------
    VAR_0004974
    Schindler disease (SCHIND)4--see VAR_0004972 E K mis40--------
    rs1214345331,2,4
    CKanzaki disease (KANZD)4 pathogenic126373286(-) CATGCA/GGCCTC 2 Q R mis10--------
    rs1214345321,2,4
    C,FSchindler disease (SCHIND)4 pathogenic126379383(-) CTTCTC/GCACCC 2 S C mis12Minor allele frequency- G:0.00NA EU 5871
    rs1214345291,2
    C,Fpathogenic126373299(-) TCATCG/AAAGTG 2 /K /E mis12Minor allele frequency- A:0.00NA EU 5375
    rs2016537161,2
    --25420012(+) TATAT-/ATATAC
            
    ACATA
    1 -- ds50010--------
    rs72916991,2
    C--26370019(+) atataC/Tatata 1 -- ds50011Minor allele frequency- T:0.00NA 2
    rs72917001,2
    C--26370023(+) atataC/Tacaca 1 -- ds50010--------
    rs1905994951,2
    --26370048(+) TATGTA/GTATAT 1 -- ds50010--------
    rs121656381,2
    C,F,A--26370204(+) ctgtcG/Acccag 1 -- ds50011Minor allele frequency- A:0.50WA 2

    HapMap Linkage Disequilibrium report for NAGA (42454338 - 42466846 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for NAGA:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv508737CNV Insertion20534489
    dgv4981n71CNV Loss21882294
    nsv834210CNV Loss17160897
    nsv915161CNV Loss21882294


    Human Gene Mutation Database (HGMD): NAGA
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing NAGA
    DNA2.0 Custom Variant and Variant Library Synthesis for NAGA

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 104170   
    OMIM disorders: 609241  609242  
    UniProtKB/Swiss-Prot: NAGAB_HUMAN, P17050
  • 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. 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. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • 20/32 diseases for NAGA (see all 32):    About MalaCards
    kanzaki disease    schindler disease    angiokeratoma    neuroaxonal dystrophy
    neuroaxonal dystrophy, infantile    schindler disease, type iii    fabry disease    fucosidosis
    blind loop syndrome    beta-mannosidosis    type 1 diabetes mellitus    lysosomal storage disease
    niemann-pick disease    pick's disease    type 1 diabetes    hypotonia
    blindness    oral cancer    insulin resistance    glomerulonephritis

    6 diseases from the University of Copenhagen DISEASES database for NAGA:
    Neuroaxonal dystrophy     Fabry disease     Angiokeratoma     Fucosidosis
    beta-mannosidosis     Blind loop syndrome

    NAGA for disorders           About GeneDecksing

    10/16 Novoseek inferred disease relationships for NAGA gene (see all 16)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    neuroaxonal dystrophies 91.7 5 8466216 (1), 2122121 (1), 11313741 (1), 1907616 (1) (see all 5)
    neuroaxonal dystrophy, infantile 89.6 4 1907616 (2), 2122121 (1)
    angiokeratoma 83.6 3 7707696 (1), 1907616 (1)
    fucosidosis 81.7 4 10571005 (2), 2208741 (1), 2122119 (1)
    fabry disease 81.3 12 19853240 (3), 11251574 (2), 2208741 (2), 2160280 (1) (see all 6)
    lysosomal storage diseases 70.8 3 11251574 (1), 7707696 (1), 2208741 (1)
    sialidosis 66.1 2 2208741 (1), 2122119 (1)
    enzyme deficiency 57 1 8466216 (1)
    deficiency diseases 56.3 1 12005440 (1)
    nephropathy iga 49.3 1 18925530 (1)

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


    Export disorders for NAGA gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for NAGA gene, integrated from 9 sources (see all 122):
    (articles sorted by number of sources associating them with NAGA)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning of two species of cDNAs for human alpha-N- acetylgalactosaminidase and expression in mammalian cells. (PubMed id 2372288)1, 2, 9 Yamauchi T.... Tsuji S. (1990)
    2. The 1.9 A structure of human alpha-N-acetylgalactosaminidase: the molecular basis of Schindler and Kanzaki diseases. (PubMed id 19683538)1, 2, 9 Clark N.E. and Garman S.C. (2009)
    3. A new case of alpha-N-acetylgalactosaminidase deficiency with angiokeratoma corporis diffusum, with Meniere's syndrome and without mental retardation. (PubMed id 11251574)1, 2, 9 Kodama K.... Kanzaki T. (2001)
    4. Degradation of blood group A glycolipid A-6-2 by normal and mutant human skin fibroblasts. (PubMed id 9741689)1, 2, 9 Asfaw B....Conzelmann E. (1998)
    5. Human alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency: new mutations and the paradox between genotype and phenotype. (PubMed id 8782044)1, 2, 9 Keulemans J.L.M.... van Diggelen O.P. (1996)
    6. The molecular lesion in the alpha-N-acetylgalactosaminidase gene that causes angiokeratoma corporis diffusum with glycopeptiduria. (PubMed id 8040340)1, 2, 9 Wang A.M.... Desnick R.J. (1994)
    7. 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. (PubMed id 1646157)1, 2, 9 Wang A.M. and Desnick R.J. (1991)
    8. 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. (PubMed id 2174888)1, 2, 9 Wang A.M.... Desnick R.J. (1990)
    9. A genome annotation-driven approach to cloning the human ORFeome. (PubMed id 15461802)1, 2 Collins J.E.... Dunham I. (2004)
    10. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 4668 HGNC: 7631 AceView: NAGA Ensembl:ENSG00000198951 euGenes: HUgn4668
    ECgene: NAGA Kegg: 4668 H-InvDB: NAGA

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for NAGA Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/NAGA

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for NAGA gene:
    Search GeneIP for patents involving NAGA

    GeneCards and IP:
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