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Aliases for ENGASE Gene

Aliases for ENGASE Gene

  • Endo-Beta-N-Acetylglucosaminidase 2 3 5
  • EC 3.2.1.96 4 61
  • Mannosyl-Glycoprotein Endo-Beta-N-Acetylglucosaminidase 2
  • Di-N-Acetylchitobiosyl Beta-N-Acetylglucosaminidase 2
  • ENGase 4

External Ids for ENGASE Gene

Previous GeneCards Identifiers for ENGASE Gene

  • GC17P074583
  • GC17P077071
  • GC17P072493

Summaries for ENGASE Gene

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 Congenital Disorder Of Deglycosylation. Among its related pathways are Transport to the Golgi and subsequent modification and Metabolism of proteins. GO annotations related to this gene include mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity.

UniProtKB/Swiss-Prot for ENGASE Gene

  • 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.

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ENGASE Gene

Genomics for ENGASE Gene

Regulatory Elements for ENGASE Gene

Enhancers for ENGASE Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17G079036 1.7 FANTOM5 Ensembl ENCODE dbSUPER 11 -33.6 -33616 3.7 TBP CTCF TAF1 JUN MAX SIN3A CEBPG RAD21 ZIC2 RELA C1QTNF1 ENGASE CANT1 BIRC5 CYTH1 USP36 C1QTNF1-AS1
GH17G078733 2.1 FANTOM5 Ensembl ENCODE dbSUPER 7.7 -324.6 -324648 27.0 MLX CREB3L1 AGO1 ZFP64 DMAP1 FEZF1 YY1 SLC30A9 ZNF143 ZNF548 CYTH1 USP36 SOCS3 RNU6-638P DNAH17 ENGASE TNRC6C-AS1 PGS1
GH17G079022 1.9 FANTOM5 Ensembl ENCODE dbSUPER 8.2 -46.0 -46005 6.5 FOXA2 MLX ARID4B SIN3A FEZF1 DMAP1 ZNF2 FOS PAF1 ZNF263 C1QTNF1 CANT1 ENGASE C1QTNF1-AS1
GH17G079072 1.1 ENCODE 12.4 +2.9 2923 3.6 HDGF PKNOX1 CREB3L1 ARNT SIN3A YBX1 YY1 ZNF766 ZNF207 KLF13 C1QTNF1 ENGASE CANT1 PIR37581
GH17G079005 1.5 Ensembl ENCODE dbSUPER 8.5 -65.6 -65631 1.6 FOXA2 ATF1 MLX ARID4B SIN3A DMAP1 ZNF48 SLC30A9 GLIS2 FOS CANT1 ENGASE GC17P079001
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ENGASE on UCSC Golden Path with GeneCards custom track

Genomic Location for ENGASE Gene

Chromosome:
17
Start:
79,071,523 bp from pter
End:
79,088,603 bp from pter
Size:
17,081 bases
Orientation:
Plus strand

Genomic View for ENGASE Gene

Genes around ENGASE on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ENGASE Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ENGASE Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ENGASE Gene

Proteins for ENGASE Gene

  • Protein details for ENGASE Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NFI3-ENASE_HUMAN
    Recommended name:
    Cytosolic endo-beta-N-acetylglucosaminidase
    Protein Accession:
    Q8NFI3
    Secondary Accessions:
    • Q659F0
    • Q8TB86
    • Q9H6U4

    Protein attributes for ENGASE Gene

    Size:
    743 amino acids
    Molecular mass:
    83987 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH24213.2; Type=Frameshift; Positions=694; Evidence={ECO:0000305};

    Alternative splice isoforms for ENGASE Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ENGASE Gene

Selected DME Specific Peptides for ENGASE Gene

Q8NFI3:
  • GTFITEW
  • FDGWLINIEN

Post-translational modifications for ENGASE Gene

  • Ubiquitination at isoforms=381
  • Modification sites at PhosphoSitePlus

Domains & Families for ENGASE Gene

Protein Domains for ENGASE Gene

Suggested Antigen Peptide Sequences for ENGASE Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8NFI3

UniProtKB/Swiss-Prot:

ENASE_HUMAN :
  • Belongs to the glycosyl hydrolase 85 family.
Family:
  • Belongs to the glycosyl hydrolase 85 family.
genes like me logo Genes that share domains with ENGASE: view

No data available for Gene Families for ENGASE Gene

Function for ENGASE Gene

Molecular function for ENGASE Gene

UniProtKB/Swiss-Prot CatalyticActivity:
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.
UniProtKB/Swiss-Prot 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.

Enzyme Numbers (IUBMB) for ENGASE Gene

Gene Ontology (GO) - Molecular Function for ENGASE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016787 hydrolase activity IEA --
GO:0016798 hydrolase activity, acting on glycosyl bonds IEA --
GO:0033925 mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity IEA,TAS --
genes like me logo Genes that share ontologies with ENGASE: view
genes like me logo Genes that share phenotypes with ENGASE: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for ENGASE Gene

Localization for ENGASE Gene

Subcellular locations from UniProtKB/Swiss-Prot for ENGASE Gene

Cytoplasm, cytosol.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ENGASE gene
Compartment Confidence
cytosol 5
lysosome 4
nucleus 3
cytoskeleton 2
mitochondrion 2
endoplasmic reticulum 2
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for ENGASE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005764 lysosome IBA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with ENGASE: view

Pathways & Interactions for ENGASE Gene

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

Interacting Proteins for ENGASE Gene

Gene Ontology (GO) - Biological Process for ENGASE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006457 protein folding TAS --
GO:0006517 protein deglycosylation IEA --
GO:0008152 metabolic process IEA --
genes like me logo Genes that share ontologies with ENGASE: view

No data available for SIGNOR curated interactions for ENGASE Gene

Drugs & Compounds for ENGASE Gene

No Compound Related Data Available

Transcripts for ENGASE Gene

Unigene Clusters for ENGASE Gene

Endo-beta-N-acetylglucosaminidase:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for ENGASE Gene

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:
SP6:
SP7:
SP8:

Relevant External Links for ENGASE Gene

GeneLoc Exon Structure for
ENGASE
ECgene alternative splicing isoforms for
ENGASE

Expression for ENGASE Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ENGASE Gene

Protein differential expression in normal tissues from HIPED for ENGASE Gene

This gene is overexpressed in Peripheral blood mononuclear cells (12.8), Ovary (9.3), Retina (7.7), and Lymph node (7.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ENGASE Gene



Protein tissue co-expression partners for ENGASE Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ENGASE Gene:

ENGASE

SOURCE GeneReport for Unigene cluster for ENGASE Gene:

Hs.29288

mRNA Expression by UniProt/SwissProt for ENGASE Gene:

Q8NFI3-ENASE_HUMAN
Tissue specificity: Widely expressed. Expressed at higher level in thymus and spleen.

Evidence on tissue expression from TISSUES for ENGASE Gene

  • Liver(4.3)
  • Skin(4.3)
genes like me logo Genes that share expression patterns with ENGASE: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for ENGASE Gene

Orthologs for ENGASE Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ENGASE Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ENGASE 34 35
  • 99.19 (n)
dog
(Canis familiaris)
Mammalia ENGASE 34 35
  • 82.85 (n)
cow
(Bos Taurus)
Mammalia ENGASE 34 35
  • 82.61 (n)
mouse
(Mus musculus)
Mammalia Engase 34 16 35
  • 80.66 (n)
rat
(Rattus norvegicus)
Mammalia Engase 34
  • 79.53 (n)
oppossum
(Monodelphis domestica)
Mammalia ENGASE 35
  • 68 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ENGASE 35
  • 51 (a)
OneToOne
chicken
(Gallus gallus)
Aves ENGASE 34 35
  • 65.92 (n)
lizard
(Anolis carolinensis)
Reptilia ENGASE 35
  • 52 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia engase 34
  • 58.17 (n)
zebrafish
(Danio rerio)
Actinopterygii engase 34 35
  • 58.26 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG5613 35
  • 30 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea eng-1 35
  • 36 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G05460 34
  • 45.36 (n)
rice
(Oryza sativa)
Liliopsida Os05g0346500 34
  • 48.94 (n)
Os.7077 34
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 38 (a)
OneToOne
Species where no ortholog for ENGASE was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ENGASE Gene

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

Paralogs for ENGASE Gene

No data available for Paralogs for ENGASE Gene

Variants for ENGASE Gene

Sequence variations from dbSNP and Humsavar for ENGASE Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs1000197380 -- 79,075,982(+) GAAAA(A/G)GAAGG intron-variant, upstream-variant-2KB
rs1000225133 -- 79,081,369(+) TGGTG(G/T)TGGGC intron-variant, upstream-variant-2KB
rs1000225424 -- 79,078,570(+) GGGTC(A/G)CTGGG intron-variant
rs1000448258 -- 79,089,088(+) GCCTC(A/G)ACCTG downstream-variant-500B
rs1000728670 -- 79,088,904(+) CCATC(C/T)ATGCC downstream-variant-500B

Structural Variations from Database of Genomic Variants (DGV) for ENGASE Gene

Variant ID Type Subtype PubMed ID
esv23539 CNV loss 19812545
nsv1057193 CNV gain 25217958
nsv2157 CNV insertion 18451855
nsv470610 CNV loss 18288195
nsv470611 CNV gain 18288195
nsv523650 CNV loss 19592680
nsv524700 CNV loss 19592680
nsv527899 CNV loss 19592680
nsv576103 CNV loss 21841781
nsv828114 CNV gain 20364138
nsv833556 CNV loss 17160897
nsv952379 CNV deletion 24416366

Variation tolerance for ENGASE Gene

Residual Variation Intolerance Score: 96.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.04; 87.53% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ENGASE Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ENGASE

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

Disorders for ENGASE Gene

MalaCards: The human disease database

(1) MalaCards diseases for ENGASE Gene - From: DISEASES

Disorder Aliases PubMed IDs
congenital disorder of deglycosylation
  • ngly1-deficiency
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for ENGASE

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ENGASE
genes like me logo Genes that share disorders with ENGASE: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ENGASE Gene

Publications for ENGASE Gene

  1. Endo-beta-N-acetylglucosaminidase, an enzyme involved in processing of free oligosaccharides in the cytosol. (PMID: 12114544) Suzuki T. … Emori Y. (Proc. Natl. Acad. Sci. U.S.A. 2002) 2 3 4 64
  2. Characterization of beta-N-acetylglucosaminidase cleavage by caspase-3 during apoptosis. (PMID: 18586680) Butkinaree C. … Hart G.W. (J. Biol. Chem. 2008) 2 3 64
  3. Relationship of urinary endothelin-1 with estimated glomerular filtration rate in autosomal dominant polycystic kidney disease: a pilot cross-sectional analysis. (PMID: 26923419) Raina R. … Simonson M. (BMC Nephrol 2016) 3 64
  4. An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome. (PMID: 24275569) Bian Y. … Zou H. (J. Proteomics 2014) 4 64
  5. Toward a comprehensive characterization of a human cancer cell phosphoproteome. (PMID: 23186163) Zhou H. … Mohammed S. (J. Proteome Res. 2013) 4 64

Products for ENGASE Gene

Sources for ENGASE Gene

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