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NAGA Gene

protein-coding   GIFtS: 64
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)
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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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 blind loop syndrome, and kanzaki disease. GO annotations related to this gene include alpha-N-acetylgalactosaminidase 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000022.11  NT_011520.13  NC_018933.2  
Regulatory elements:
   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 Chromatin IP Primers for NAGA

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: NAGAB_HUMAN, P17050 (See protein sequence)
Recommended Name: Alpha-N-acetylgalactosaminidase precursor  
Size: 411 amino acids; 46565 Da
Subunit: 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
Sequence caution: Sequence=AAA59902.1; Type=Frameshift; Positions=320;
Selected 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: 

  • Glycosylation2 at Asn124, Asn177, Asn201, Asn359, Asn385
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for NAGA (P17050) (see all 9)
     GLKLGIY  AQDGWRD  DILQNPL  SCSWPAY 


    See NAGA Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000253.1  
    ENSEMBL proteins: 
     ENSP00000379680   ENSP00000385283   ENSP00000384603  

    NAGA Human Recombinant Protein Products:

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    Browse Proteins at Cloud-Clone Corp.

    NAGA Antibody Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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:    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: Let us create your new Knockout/Knockin mouse model for NAGA
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    miRNA
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    miRTarBase miRNAs that target NAGA:
    hsa-mir-331-3p (MIRT043313), hsa-mir-193b-3p (MIRT016604)

    Block miRNA regulation of human, mouse, rat NAGA using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate NAGA (see all 12):
    hsa-miR-125a-5p hsa-miR-185* hsa-miR-3133 hsa-miR-483-3p hsa-miR-661 hsa-miR-544b hsa-miR-214* hsa-miR-4325
    SwitchGear 3'UTR luciferase reporter plasmidNAGA 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat NAGA

    Gene Editing
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    Sino Biological Human cDNA Clone for NAGA
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NAGA

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NAGA


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    NAGAB_HUMAN, P17050: Lysosome
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    lysosome5
    vacuole5
    extracellular2
    cytosol1
    endoplasmic reticulum1
    peroxisome1
    plasma membrane1

    Gene Ontology (GO): 2 cellular component terms:    About this table

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

    NAGA for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    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

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for NAGA
    Interactions:

        Search GeneGlobe Interaction Network for NAGA

    STRING Interaction Network Preview (showing 5 interactants - click image to see 10)

    Selected Interacting proteins for NAGA (P170503 ENSP000003796804) via UniProtKB, MINT, STRING, and/or I2D (see all 19)
    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): Selected biological process terms (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, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    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)



    NAGA for compounds           About GeneDecksing



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    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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    Selected qRT-PCR Assays for microRNAs that regulate NAGA (see all 12):
    hsa-miR-125a-5p hsa-miR-185* hsa-miR-3133 hsa-miR-483-3p hsa-miR-661 hsa-miR-544b hsa-miR-214* hsa-miR-4325
    SwitchGear 3'UTR luciferase reporter plasmidNAGA 3' UTR sequence
    Inhib. RNA
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      QuantiTect SYBR Green Assays in human, mouse, rat NAGA
      QuantiFast Probe-based Assays in human, mouse, rat NAGA

    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 

    Selected AceView cDNA sequences (see all 336):

    CR595327 BC000095 CR456527 AI125910 BX353014 CA454117 BI769830 BM714986 
    BM714265 CR622743 AL045023 CR623556 CB529326 CR620776 M38083 CA428658 
    H44809 CR612931 BQ001662 F03932 CR592922 AW296535 CR599558 CR591632 

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    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


    NAGA expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Blood (Hematopoietic System)
             Monocytes Peripheral Blood
    NAGA Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    NAGA Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.75372
        Custom PCR Arrays for NAGA
    Primer
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    QuantiTect SYBR Green Assays in human, mouse, rat NAGA
    QuantiFast Probe-based Assays in human, mouse, rat NAGA
    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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for NAGA gene from Selected species (see all 18)    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
    N-acetylgalactosaminidase, alpha-
    70(a)
    1 ↔ 1
    5(27065125-27074871)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia naga1 N-acetylgalactosaminidase, alpha- 56.93(n)
    57.43(a)
      779501  NM_001114217.1  NP_001107689.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.117182 Transcribed sequence with weak similarity to protein more 75.61(n)    57090518 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG57311 , 3 alpha-N-acetylgalactosaminidase3
    CG57311
    52(a)
    (best of 2)3
    57.91(n)1
    55.5(a)1
      31B13
    343551  NM_135510.21  NP_609354.11 
    worm
    (Caenorhabditis elegans)
    Secernentea R07B7.113
    gana-11
    alpha-N-acetylgalactosaminidase3
    gana-11
    45(a)3
    48.65(n)1
    44.92(a)1
      V(12089834-12091423)3
    1796601  NM_073630.51  NP_506031.11 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT3G563101 AT3G56310 50.2(n)
    44.01(a)
      824798  NM_115489.5  NP_191190.2 
    rice
    (Oryza sativa)
    Liliopsida Os07g06793001 Os07g0679300 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)
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    Paralogs for NAGA gene
    GLA2  
    1 SIMAP similar gene for NAGA using alignment to 1 protein entry:     NAGAB_HUMAN:
    GLA

    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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for NAGA (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
    ----------
    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
    VAR_0004984
    Kanzaki disease (KANZD)4--see VAR_0004982 R W mis40--------
    VAR_0004974
    Schindler disease (SCHIND)4--see VAR_0004972 E K mis40--------
    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
    Site Specific Mutation Identification with 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, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    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

  • Selected diseases for NAGA (see all 38):    
    About MalaCards
    blind loop syndrome    kanzaki disease    schindler disease, type iii    schindler disease
    neuroaxonal dystrophy, infantile    angiokeratoma    schindler disease, type 1    neuroaxonal dystrophy
    fabry disease    fucosidosis    beta-mannosidosis    lysosomal storage disease
    type 1 diabetes mellitus    niemann-pick disease    pick's disease    type 1 diabetes
    hypotonia    blindness    glomerulonephritis    oral cancer

    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

    Selected 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)
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    PubMed articles for NAGA gene, integrated from 10 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. (Biochem. Biophys. Res. Commun. 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. (J. Mol. Biol. 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. (Br. J. Dermatol. 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. (J. Lipid Res. 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. (J. Med. Genet. 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. (J. Clin. Invest. 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. (Genomics 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. (J. Biol. Chem. 1990)
    9. A genome annotation-driven approach to cloning the human ORFeome. (PubMed id 15461802)1, 2 Collins J.E.... Dunham I. (Genome Biol. 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. (Genome Res. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 4668 HGNC: 7631 AceView: NAGA Ensembl:ENSG00000198951 euGenes: HUgn4668
    ECgene: NAGA Kegg: 4668 H-InvDB: NAGA

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for NAGA Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=NAGA[genesymbol]

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

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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