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ENGASE Gene

protein-coding   GIFtS: 54
GCID: GC17P077071

Endo-Beta-N-Acetylglucosaminidase

  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
endo-beta-N-acetylglucosaminidase1 2     Cytosolic Endo-Beta-N-Acetylglucosaminidase2
Di-N-Acetylchitobiosyl Beta-N-Acetylglucosaminidase1 2     ENGase3
Mannosyl-Glycoprotein Endo-Beta-N-Acetylglucosaminidase1 2     FLJ218655
EC 3.2.1.963 8     NAGLUEB5

External Ids:    HGNC: 246221   Entrez Gene: 647722   Ensembl: ENSG000001672807   OMIM: 6118985   UniProtKB: Q8NFI33   

Export aliases for ENGASE gene to outside databases

Previous GC identifers: GC17P074583 GC17P072493


(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 ENGASE Gene:
This gene encodes a cytosolic enzyme which catalyzes the hydrolysis of peptides and proteins with mannose
modifications to produce free oligosaccharides. (provided by RefSeq, Feb 2012)

GeneCards Summary for ENGASE Gene:
ENGASE (endo-beta-N-acetylglucosaminidase) is a protein-coding gene. Diseases associated with ENGASE include sparganosis, and fucosidosis. GO annotations related to this gene include mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity.

UniProtKB/Swiss-Prot: ENASE_HUMAN, Q8NFI3
Function: Endoglycosidase that releases N-glycans from glycoproteins by cleaving the beta-1,4-glycosidic bond in
the N,N'-diacetylchitobiose core. Involved in the processing of free oligosaccharides in the cytosol




(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_000017.11  NT_010783.16  NC_018928.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ENGASE gene promoter:
         HOXA9   HOXA9B   Sp1   FOXO3   MyoD   FOXO3b   C/EBPalpha   FOXO3a   Meis-1a   Meis-1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for ENGASE

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ENGASE


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

Entrez Gene cytogenetic band: 17q25.3   Ensembl cytogenetic band:  17q25.3   HGNC cytogenetic band: 17q25.3

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

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P077071:  view genomic region     (about GC identifiers)

Start:
77,071,019 bp from pter      End:
77,084,681 bp from pter
Size:
13,663 bases      Orientation:
plus 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: ENASE_HUMAN, Q8NFI3 (See protein sequence)
Recommended Name: Cytosolic endo-beta-N-acetylglucosaminidase  
Size: 743 amino acids; 83987 Da
Sequence caution: Sequence=AAH24213.2; Type=Frameshift; Positions=694;
Secondary accessions: Q659F0 Q8TB86 Q9H6U4
Alternative splicing: 3 isoforms:  Q8NFI3-1   Q8NFI3-2   Q8NFI3-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ENGASE: NX_Q8NFI3

Explore proteomics data for ENGASE at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys381
  • Modification sites at PhosphoSitePlus
  • 2 DME Specific Peptides for ENGASE (Q8NFI3)
     GTFITEW  FDGWLINIEN 


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

    REFSEQ proteins: NP_001036038.1  
    ENSEMBL proteins: 
     ENSP00000463537   ENSP00000462333   ENSP00000308158   ENSP00000300682   ENSP00000460579  

    ENGASE Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for ENGASE
    OriGene Protein Over-expression Lysate for ENGASE
    OriGene Custom MassSpec
    OriGene Custom Protein Services for ENGASE
    GenScript Custom Purified and Recombinant Proteins Services for ENGASE
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for ENGASE

    ENGASE Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
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    OriGene Custom Antibody Services for ENGASE
    Novus Biologicals ENGASE Antibody
    Abcam antibodies for ENGASE
    Cloud-Clone Corp. Antibodies for ENGASE
    ThermoFisher Antibody for ENGASE
    LSBio Antibodies in human, mouse, rat for ENGASE

    ENGASE Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Cloud-Clone Corp. ELISAs for ENGASE
    Cloud-Clone Corp. CLIAs for ENGASE


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR005201 Glyco_hydro_85
     IPR001357 BRCT_dom

    Graphical View of Domain Structure for InterPro Entry Q8NFI3

    ProtoNet protein and cluster: Q8NFI3

    1 Blocks protein domain: IPB001357 BRCT domain

    UniProtKB/Swiss-Prot: ENASE_HUMAN, Q8NFI3
    Similarity: Belongs to the glycosyl hydrolase 85 family
    Similarity: Contains 1 BRCT domain


    ENGASE 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: ENASE_HUMAN, Q8NFI3
    Function: Endoglycosidase that releases N-glycans from glycoproteins by cleaving the beta-1,4-glycosidic bond in
    the N,N'-diacetylchitobiose core. Involved in the processing of free oligosaccharides in the cytosol
    Catalytic activity: Endohydrolysis of the N,N'-diacetylchitobiosyl unit in high-mannose glycopeptides and
    glycoproteins containing the -(Man(GlcNAc)(2))Asn-structure. One N-acetyl-D-glucosamine residue remains attached
    to the protein; the rest of the oligosaccharide is released intact

         Enzyme Number (IUBMB): EC 3.2.1.961 2

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0033925mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity IEA--
         
    ENGASE for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for ENGASE:
     Decreased influenza A H1N1 (A/  Decreased influenza A/WSN/33 r 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ENGASE
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for ENGASE

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ENGASE
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ENGASE

    miRNA
    Products:
        
    Block miRNA regulation of human, mouse, rat ENGASE using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ENGASE (see all 12):
    hsa-miR-1178 hsa-miR-3163 hsa-miR-3184 hsa-miR-1226 hsa-miR-539 hsa-miR-634 hsa-miR-513a-3p hsa-miR-423-5p
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for ENGASE
    Predesigned siRNA for gene silencing in human, mouse, rat ENGASE

    Gene Editing
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    DNA2.0 Custom Protein Engineering Service for ENGASE

    Clone
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    OriGene clones in human, mouse for ENGASE (see all 6)
    OriGene ORF clones in mouse, rat for ENGASE
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: ENGASE (NM_001042573)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ENGASE
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ENGASE

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for ENGASE
    Browse ESI BIO Cell Lines and PureStem Progenitors for ENGASE 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ENGASE


    (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
    ENASE_HUMAN, Q8NFI3: Cytoplasm, cytosol (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum3
    golgi apparatus3
    nucleus3
    cytosol2
    extracellular2
    mitochondrion2
    plasma membrane2
    cytoskeleton1
    lysosome1
    vacuole1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm ----
    GO:0005829cytosol IEA--

    ENGASE 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 ENGASE About    
    See pathways by source

    SuperPathContained pathways About
    1Other glycan degradation
    Other glycan degradation

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1 Kegg Pathway  (Kegg details for ENGASE):
        Other glycan degradation


    ENGASE for pathways           About GeneDecksing

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

        Search GeneGlobe Interaction Network for ENGASE

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    3 Interacting proteins for ENGASE (Q8NFI33 ENSP000003006824) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ZP3P217543, ENSP000003783264I2D: score=1 STRING: ENSP00000378326
    ACTR6Q9GZN13I2D: score=3 
    GYS1P138073I2D: score=3 
    About this table

    (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 ENGASE (ENASE)



    (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 ENGASE gene (2 alternative transcripts): 
    NM_022759.1  NM_001042573.2  

    Unigene Cluster for ENGASE:

    Endo-beta-N-acetylglucosaminidase
    Hs.29288  [show with all ESTs]
    Unigene Representative Sequence: AL110283
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000578419 ENST00000579016 ENST00000311595 ENST00000300682(uc002jwv.3 uc002jww.3)
    ENST00000583646 ENST00000584568 ENST00000577783 ENST00000583041 ENST00000579809
    ENST00000585160 ENST00000539857(uc002jwu.1 uc010wtz.1)
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat ENGASE using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ENGASE (see all 12):
    hsa-miR-1178 hsa-miR-3163 hsa-miR-3184 hsa-miR-1226 hsa-miR-539 hsa-miR-634 hsa-miR-513a-3p hsa-miR-423-5p
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for ENGASE
    Predesigned siRNA for gene silencing in human, mouse, rat ENGASE
    Clone
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    OriGene clones in human, mouse for ENGASE (see all 6)
    OriGene ORF clones in mouse, rat for ENGASE
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: ENGASE (NM_001042573)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ENGASE
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ENGASE
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for ENGASE
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ENGASE
      QuantiTect SYBR Green Assays in human, mouse, rat ENGASE
      QuantiFast Probe-based Assays in human, mouse, rat ENGASE

    Additional mRNA sequence: 

    AF512564.1 AK025518.1 AK301115.1 AL110283.1 BC024213.2 BC042158.1 

    8 DOTS entries:

    DT.109748  DT.100784413  DT.100784412  DT.95285502  DT.75186775  DT.95239993  DT.100784414  DT.95142027 

    Selected AceView cDNA sequences (see all 122):

    BQ777080 BM903787 AI066626 CD251206 AF512564 CA431605 BQ695205 AW235218 
    AI902587 T05698 AI625027 BQ003731 BM725961 BE298781 T17479 AI631386 
    BE298642 AA256273 AI274007 BX441271 BM680972 BE045977 CA426570 AA770245 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for ENGASE (see all 8)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9a · 9b ^ 10a · 10b ^ 11a · 11b ^ 12a · 12b · 12c ^ 13a · 13b ^ 14 ^ 15 ^ 16 ^ 17
    SP1:                                                  -     -                 -                 -     -                                                   
    SP2:                                                                          -                 -     -                                                   
    SP3:                                                                          -                 -     -                                                   
    SP4:                                                                          -                                                                           
    SP5:                                                                                                                                                      


    ECgene alternative splicing isoforms for ENGASE

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

    ENGASE Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ENGASE Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.29288

    UniProtKB/Swiss-Prot: ENASE_HUMAN, Q8NFI3
    Tissue specificity: Widely expressed. Expressed at higher level in thymus and spleen

        Custom PCR Arrays for ENGASE
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ENGASE
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    QuantiFast Probe-based Assays in human, mouse, rat ENGASE
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ENGASE

    (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 ENGASE gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Engase1 , 5 endo-beta-N-acetylglucosaminidase1, 5 80.66(n)1
    81.48(a)1
      11 (83.21 cM)5
    2173641  NM_172573.21  NP_766161.11 
     1184768295 
    chicken
    (Gallus gallus)
    Aves ENGASE1 endo-beta-N-acetylglucosaminidase 65.92(n)
    59.88(a)
      430102  XM_427660.4  XP_427660.4 
    lizard
    (Anolis carolinensis)
    Reptilia ENGASE6
    endo-beta-N-acetylglucosaminidase
    52(a)
    1 ↔ 1
    2(101627626-101642607)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia engase1 endo-beta-N-acetylglucosaminidase 58.17(n)
    53.24(a)
      100496567  XM_002932518.2  XP_002932564.2 
    zebrafish
    (Danio rerio)
    Actinopterygii engase1 endo-beta-N-acetylglucosaminidase 58.26(n)
    52.24(a)
      561239  NM_001080578.2  NP_001074047.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG56136
    --
    30(a)
    1 ↔ 1
    X(17317624-17322767)
    worm
    (Caenorhabditis elegans)
    Secernentea eng-16
    Protein ENG-1, isoform b
    36(a)
    1 ↔ 1
    III(5866497-5868501) WBGene00017164
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT5G054601 AT5G05460 45.36(n)
    37.2(a)
      830429  NM_120628.4  NP_196165.3 
    rice
    (Oryza sativa)
    Liliopsida Os.70772 Oryza sativa (japonica cultivar-group) cDNA clone0 more 72.51(n)    AK112067.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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      --

    (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 ENGASE (see all 573)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs790838261,2
    C--77069080(+) GATAAA/CTATGC 1 -- us2k10--------
    rs1151776521,2
    C,F--77069315(+) ACAGGG/AGCTAA 1 -- us2k11Minor allele frequency- A:0.03WA 118
    rs80697481,2
    C,F--77069361(+) AGGGGC/TGTGCA 1 -- us2k13Minor allele frequency- T:0.07WA CSA 122
    rs1931858001,2
    --77069464(+) AGACTG/TAGCAT 1 -- us2k10--------
    rs1497384271,2
    --77069551(+) GCTAAA/GCTGCA 1 -- us2k10--------
    rs1141955951,2
    C,F--77069557(+) CTGCAG/AGTGAG 1 -- us2k11Minor allele frequency- A:0.01WA 118
    rs1467270961,2
    C--77069616(+) TCCGGC/TGCACC 1 -- us2k10--------
    rs620637721,2
    C--77069621(+) TGCACC/TCCTGA 1 -- us2k14Minor allele frequency- T:0.14NA EA 244
    rs1846485451,2
    --77069624(+) ACCCCC/TGAACA 1 -- us2k10--------
    rs1888711651,2
    --77069662(+) GCCCTC/TGCTCA 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for ENGASE (77071019 - 77084681 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for ENGASE (see all 15):    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv2157CNV Insertion18451855
    nsv527899CNV Loss19592680
    nsv908911CNV Loss21882294
    dgv3287n71CNV Loss21882294
    nsv524700CNV Loss19592680
    nsv833556CNV Loss17160897
    dgv3284n71CNV Loss21882294
    dgv3286n71CNV Loss21882294
    dgv3285n71CNV Loss21882294
    nsv523650CNV Loss19592680

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 611898    OMIM disorders: --

    8 diseases for ENGASE:    
    About MalaCards
    sparganosis    fucosidosis    protein c deficiency    mucolipidosis
    pneumonia    influenza    rheumatoid arthritis    arthritis

    2 diseases from the University of Copenhagen DISEASES database for ENGASE:
    Fucosidosis     Sparganosis

    ENGASE for disorders           About GeneDecksing


    Export disorders for ENGASE 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 ENGASE gene, integrated from 10 sources (see all 19):
    (articles sorted by number of sources associating them with ENGASE)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Endo-beta-N-acetylglucosaminidase, an enzyme involved in processing of free oligosaccharides in the cytosol. (PubMed id 12114544)1, 2, 3 Suzuki T.... Emori Y. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    2. Characterization of beta-N-acetylglucosaminidase cleavage by caspase-3 during apoptosis. (PubMed id 18586680)1, 3 Butkinaree C....Hart G.W. (J. Biol. Chem. 2008)
    3. N-terminal acetylome analyses and functional insights of the N- terminal acetyltransferase NatB. (PubMed id 22814378)2 Van Damme P....Aldabe R. (Proc. Natl. Acad. Sci. U.S.A. 2012)
    4. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (amp 2011)
    5. Telomere dysfunction-related serological markers are associated with type 2 diabetes. (PubMed id 21873561)1 Xiao F....Ju Z. (Diabetes Care 2011)
    6. Identification of roles for peptide: N-glycanase and endo-beta-N-acetylglucosaminidase (Engase1p) during protein N-glycosylation in human HepG2 cells. (PubMed id 20668520)1 Chantret I....Moore S.E. (PLoS ONE 2010)
    7. Increased expression of beta-N-acetylglucosaminidase in erythrocytes from individuals with pre-diabetes and diabetes. (PubMed id 20413512)1 Park K....Hart G.W. (Diabetes 2010)
    8. Screening-based discovery of drug-like O-GlcNAcase inhibitor scaffolds. (PubMed id 20026047)1 Dorfmueller H.C. and van Aalten D.M. (FEBS Lett. 2010)
    9. Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions. (PubMed id 19690332)2 Mayya V.... Han D.K. (Sci. Signal. 2009)
    10. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (BMC Genomics 2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    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: 64772 HGNC: 24622 AceView: FLJ21865 Ensembl:ENSG00000167280 euGenes: HUgn64772
    ECgene: ENGASE Kegg: 64772 H-InvDB: ENGASE

    (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 ENGASE Pharmacogenomics, SNPs, Pathways

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

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

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