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

NAGA Gene

protein-coding   GIFtS: 59
GCID: GC22M042428

N-acetylgalactosaminidase, alpha-
 Explore 36 diseases affiliated with
NAGA via
MalaCards
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 Human Malady Compendium 
Biological research products
for NAGA    

Aliases
for NAGA gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
N-Acetylgalactosaminidase, Alpha-1 2     GALB2
D22S6741 2     Acetylgalactosaminidase, Alpha-N- (Alpha-Galactosidase B)2
Alpha-Galactosidase B2 3     Alpha-N-Acetylgalactosaminidase1
EC 3.2.1.493 8     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


Summaries
for NAGA gene

(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:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000022.10  NC_018933.1  NT_011520.12  
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 plasmid: NAGA 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:
 42,428,724 bp from pter      End:
 42,466,846 bp from pter
Size:
 38,123 bases      Orientation:
 minus strand

Proteins
for NAGA gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • 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 MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_000253.1  
    ENSEMBL proteins: 
     ENSP00000419678   ENSP00000379680   ENSP00000385283   ENSP00000384603  

    Human Recombinant Protein Products: 
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    OriGene Purified Protein: NAGA
    OriGene Protein Over-expression Lysate: NAGA
    OriGene Custom Protein Services for NAGA 
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    Novus Biologicals NAGA Protein
    Novus Biologicals NAGA Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Uscn

    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



    NAGA Antibody Products: 
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    Browse ELISAs and CLIAs at Uscn

    Protein Domains /
    Families
    for NAGA gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    NAGA for domains           About GeneDecksing

    5 InterPro domains/families:
     IPR013785 Aldolase_TIM
     IPR002241 Glyco_hydro_27
     IPR000111 Glyco_hydro_GHD
     IPR017853 Glycoside_hydrolase_SF
     IPR013780 Glyco_hydro_13_b

    Graphical View of Domain Structure for InterPro Entry P17050

    ProtoNet protein and cluster: P17050

    1 Blocks protein family: IPB002241 Glycosyl hydrolase family 27 signature

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


    Function
    for NAGA gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: 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

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat NAGA
    8/12 QIAGEN miScript miRNA 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 plasmid: NAGA 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for NAGA (see all 7)
    OriGene shRNA RFP: NAGA
    OriGene siRNA: NAGA
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat NAGA

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for NAGA

    Clone
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NAGA 

    Cell Line
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    In Situ Assay
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    Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004557alpha-galactosidase activity IBA--
    GO:0008456alpha-N-acetylgalactosaminidase activity IDA19683538
    GO:0042803protein homodimerization activity IPI19683538
    GO:0043169cation binding IEA--


    NAGA for ontologies           About GeneDecksing


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

    NAGA for phenotypes           About GeneDecksing


    Pathways & Interactions
    for NAGA gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Lysosome
    		Lysosome1.00
    2Glycosphingolipid biosynthesis - globo series
    		Glycosphingolipid biosynthesis - globo series1.00

    Pathway sources
    See GeneCards unified pathways
    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 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0009311oligosaccharide metabolic process IBA--
    GO:0016052carbohydrate catabolic process IDA19683538
    GO:0016139glycoside catabolic process IBA--
    GO:0019377glycolipid catabolic process IMP9741689
    GO:0046477glycosylceramide catabolic process IBA--


    NAGA for ontologies           About GeneDecksing



    Drugs & Compounds
    for NAGA gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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

    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 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 

    Transcripts
    for NAGA gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    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, 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
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000481068 ENST00000396398(uc003bbw.4) ENST00000403363 ENST00000402937


    miRNA
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    8/12 QIAGEN miScript miRNA 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 plasmid: NAGA 3' UTR sequence
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for NAGA (see all 7)
    OriGene shRNA RFP: NAGA
    OriGene siRNA: NAGA
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat NAGA
    Clone
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    Primer
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    Additional cDNA 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):

    BM714986 CA748937 CR595848 CR621618 CR591632 BM714265 CR610763 BU584187 
    BQ645779 BX090389 CR618231 BX367373 BU170376 BX374419 CR599558 BI769830 
    BM676689 CR592922 BC000095 AL045023 CR595327 AA303896 AW296535 H44809 

    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

    Expression
    for NAGA gene

    (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
    CGAP TAG: TGATTGGCTT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene 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
    Primer
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    In Situ
    Assay Products:     
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    Orthologs
    for NAGA gene

    (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 7/26 species (see all 26)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    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
    --
    		 --
    		 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
    for NAGA gene

    (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



    Genomic Variants
    for NAGA gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/311 NCBI SNPs in NAGA are shown (see all 311)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 22 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1214345331,2
    		C,pathogenic25423207(-) CATGCA/GGCCTC 2 Q R mis10--------
    rs1214345291,2
    		C,Fpathogenic25423220(-) TCATCG/AAAGTG 2 /K /E mis12Minor allele frequency- A:0.00NA EU 5375
    rs1214345321,2
    		C,F,pathogenic25429306(-) CTTCTC/GCACCC 2 S C mis12Minor allele frequency- G:0.00NA EU 5871
    rs121656381,2
    		C,A,--25420125(+) ctgtcG/Acccag 1 -- ds50011Minor allele frequency- A:0.50WA 2
    rs119121421,2
    		C,H,--25420154(+) catctC/Tggctc 1 -- ds50011Minor allele frequency- T:0.50WA 2
    rs96235091,2
    		--25420211(+) ctcccG/Aagtgg 1 -- ds50011Minor allele frequency- A:0.00NA 2
    rs96235101,2
    		--25420215(+) cgagtG/Agctgg 1 -- ds50011Minor allele frequency- A:0.00NA 2
    rs117030631,2
    		H--25420372(+) gagtcA/Cccgcg 1 -- ds50010--------
    rs803130111,2
    		C,F,--25420634(+) CTTGCA/C/G/T 
                TCCAA     		3 -- ut311WA 118
    rs117032331,2
    		C,H,--25420751(+) GAAGGG/ATGAAG 1 -- ut31 ese34Minor allele frequency- A:0.00NS EA 418

    HapMap Linkage Disequilibrium report for NAGA (42428724 - 42466846 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for NAGA: --
    Human Gene Mutation Database (HGMD): NAGA

    SABiosciences Cancer Mutation PCR Assays
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    Disorders / Diseases
    for NAGA gene

    (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.)
    About This Section
    NAGA for disorders           About GeneDecksing

    OMIM gene information: 104170   
    OMIM disorders: 609241  609242  
    UniProtKB/Swiss-Prot: NAGAB_HUMAN, P17050
  • Defects in NAGA are the cause of Schindler disease (SCHIND) [MIM:609241]. Schindler disease is a 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
  • Defects in NAGA are the cause of Kanzaki disease (KANZD) [MIM:609242]; also known as NAGA deficiency type II
    • or Schindler disease type II. Kanzaki disease is an autosomal recessive disorder characterized by late onset,
    angiokeratoma corporis diffusum and mild intellectual impairment

    20/36 diseases for NAGA (see all 36):    About MalaCards
    schindler disease    kanzaki disease    schindler disease, type iii    neuroaxonal dystrophy, infantile
    neuroaxonal dystrophy    beta-mannosidosis    niemann-pick disease    lysosomal storage disease
    angiokeratoma    blind loop syndrome    sialidosis    fucosidosis
    mannosidosis    type 1 diabetes mellitus    fabry disease    pick's disease
    insulin resistance    systemic lupus erythematosus    lupus erythematosus    diabetes mellitus

    1 disease from the University of Copenhagen DISEASES database for NAGA:
    Fabry disease

    10/16 Novoseek 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

    Publications
    for NAGA gene

    (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)

    External Searches for NAGA gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
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    Genome Databases showing NAGA gene

    (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

    Other Databases showing NAGA gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing NAGA gene

    (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

    Intellectual Property
    for NAGA gene

    (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

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