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ENSG00000227315 Gene

protein-coding   GIFtS: 16
GCID: GC06Mj31813          (predicted)

ENSG00000227315


  See related disease
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
EC 3.2.1.183 8
NANH3
Acetylneuraminyl Hydrolase3
G9 Sialidase3
Lysosomal Sialidase3
N-Acetyl-Alpha-Neuraminidase 13

External Ids:    Ensembl: ENSG000002273157   UniProtKB: Q995193   

Export aliases for ENSG00000227315 gene to outside databases


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for ENSG00000227315 Gene:
ENSG00000227315 is a protein-coding gene. Diseases associated with ENSG00000227315 include galactosialidosis.

UniProtKB/Swiss-Prot: NEUR1_HUMAN, Q99519
Function: Catalyzes the removal of sialic acid (N-acetylneuraminic acid) moities from glycoproteins and
glycolipids. To be active, it is strictly dependent on its presence in the multienzyme complex. Appears to have a
preference for alpha 2-3 and alpha 2-6 sialyl linkage




(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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Regulatory elements:
   Search for regulatory transcription factor binding sites for ENSG00000227315
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for ENSG00000227315

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ENSG00000227315


Genomic Location:
Chromosome:6   

Ensembl cytogenetic band:  HSCHR6_MHC_COXp21.33   

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06Mj31813:       (about GC identifiers)

Start:
31,812,978 bp from start of contig ALT_REF_LOCI_2      End:
31,818,226 bp from start of contig ALT_REF_LOCI_2
Size:
5,249 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, 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: NEUR1_HUMAN, Q99519 (See protein sequence)
Recommended Name: Sialidase-1 precursor  
Size: 415 amino acids; 45467 Da
Subunit: Interacts with cathepsin A (protective protein), beta-galactosidase and N-acetylgalactosamine-6-sulfate
sulfatase in a multienzyme complex

Explore the universe of human proteins at neXtProt for ENSG00000227315: NX_Q99519

Explore proteomics data for ENSG00000227315 at MOPED

Post-translational modifications: 

  • N-glycosylated1
  • Phosphorylation of tyrosine within the internalization signal results in inhibition of sialidase internalization
    and blockage on the plasma membrane1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for ENSG00000227315 (Q99519) (see all 7)
     DQGSTWS  DGLNLGAVV  APQLYVLYEKGRN  VASTMLVWSKDDG 


    See ENSG00000227315 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB


    ENSEMBL proteins: 
     ENSP00000432824   ENSP00000408207   ENSP00000432761  
    Reactome Protein details: Q99519

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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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    3 InterPro protein domains:
     IPR026942 Sialidase-1
     IPR011040 Sialidases
     IPR026856 Sialidase_fam

    Graphical View of Domain Structure for InterPro Entry Q99519

    ProtoNet protein and cluster: Q99519

    UniProtKB/Swiss-Prot: NEUR1_HUMAN, Q99519
    Domain: A C-terminal internalization signal (YGTL) appears to allow the targeting of plasma membrane proteins to
    endosomes
    Similarity: Belongs to the glycosyl hydrolase 33 family
    Similarity: Contains 4 BNR repeats


    Find genes that share domains with ENSG00000227315           About GenesLikeMe


    (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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: NEUR1_HUMAN, Q99519
    Function: Catalyzes the removal of sialic acid (N-acetylneuraminic acid) moities from glycoproteins and
    glycolipids. To be active, it is strictly dependent on its presence in the multienzyme complex. Appears to have a
    preference for alpha 2-3 and alpha 2-6 sialyl linkage
    Catalytic activity: Hydrolysis of alpha-(2->3)-, alpha-(2->6)-, alpha-(2->8)- glycosidic linkages of terminal
    sialic acid residues in oligosaccharides, glycoproteins, glycolipids, colominic acid and synthetic substrates
    Biophysicochemical properties: pH dependence: Optimum pH is 4.6;

         Enzyme Number (IUBMB): EC 3.2.1.181 2

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004308exo-alpha-sialidase activity ----
    GO:0052794exo-alpha-(2->3)-sialidase activity ----
    GO:0052795exo-alpha-(2->6)-sialidase activity ----
    GO:0052796exo-alpha-(2->8)-sialidase activity ----
         
    Find genes that share ontologies with ENSG00000227315           About GenesLikeMe


    Animal Models:
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    (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
    NEUR1_HUMAN, Q99519: Lysosome membrane; Peripheral membrane protein; Lumenal side. Lysosome lumen. Cell membrane.
    Cytoplasmic vesicle. Note=Localized not only on the inner side of the lysosomal membrane and in the lysosomal
    lumen, but also on the plasma membrane and in intracellular vesicles

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005764lysosome ----
    GO:0005765lysosomal membrane ----
    GO:0005886plasma membrane ----
    GO:0016023cytoplasmic membrane-bounded vesicle ----
    GO:0030054cell junction ----

    Find genes that share ontologies with ENSG00000227315           About GenesLikeMe


    (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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    Find genes that share SuperPaths with ENSG00000227315           About GenesLikeMe

    Pathways by sourceSee SuperPaths
    Show all pathways


    2 Reactome Pathways for ENSG00000227315
        Sialic acid metabolism
    Glycosphingolipid metabolism


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ENSG00000227315
    Interactions:

        Search GeneGlobe Interaction Network for ENSG00000227315

    Selected Interacting proteins for ENSG00000227315 (Q995192, 3) via UniProtKB, MINT, STRING, and/or I2D (see all 12)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CTSAP106193I2D: score=4 
    EEF1A1P681043I2D: score=4 
    GLB1P162783I2D: score=4 
    GALNSP340593I2D: score=1 
    HDAC5Q9UQL63I2D: score=1 
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006665sphingolipid metabolic process ----
    GO:0006687glycosphingolipid metabolic process ----
    GO:0009313oligosaccharide catabolic process ----
    GO:0044281small molecule metabolic process ----

    Find genes that share ontologies with ENSG00000227315           About GenesLikeMe



    (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 ENSG00000227315 (NEUR1)



    (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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000465161 ENST00000492929 ENST00000473972 ENST00000439648(uc011fie.1)
    ENST00000477637
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    GeneLoc Exon Structure


    (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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    See probesets specificity/sensitivity at GeneAnnot
    CGAP TAG: --

    ENSG00000227315 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ENSG00000227315 Protein Expression

    UniProtKB/Swiss-Prot: NEUR1_HUMAN, Q99519
    Tissue specificity: Highly expressed in pancreas, followed by skeletal muscle, kidney, placenta, heart, lung and
    liver. Weakly expressed in brain

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    In Situ
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    (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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      --

    ENSEMBL Gene Tree for ENSG00000227315 (if available)
    TreeFam Gene Tree for ENSG00000227315 (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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    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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    UniProtKB/Swiss-Prot: NEUR1_HUMAN, Q99519
  • Sialidosis (SIALIDOSIS) [MIM:256550]: Lysosomal storage disease occurring as two types with various
    manifestations. Type 1 sialidosis (cherry red spot-myoclonus syndrome or normosomatic type) is late-onset and it
    is characterized by the formation of cherry red macular spots in childhood, progressive debilitating myoclonus,
    insiduous visual loss and rarely ataxia. The diagnosis can be confirmed by the screening of the urine for
    sialyloligosaccharides. Type 2 sialidosis (also known as dysmorphic type) occurs as several variants of
    increasing severity with earlier age of onset. It is characterized by the presence of abnormal somatic features
    including coarse facies and dysostosis multiplex, vertebral deformities, mental retardation, cherry-red
    spot/myoclonus, sialuria, cytoplasmic vacuolation of peripheral lymphocytes, bone marrow cells and conjunctival
    epithelial cells. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 1 disease for ENSG00000227315:    
    About MalaCards
    galactosialidosis


    Find genes that share disorders with ENSG00000227315           About GenesLikeMe


    Export disorders for ENSG00000227315 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 ENSG00000227315 gene, integrated from 10 sources (see all 15):
    (articles sorted by number of sources associating them with ENSG00000227315)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)
    2. Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry. (PubMed id 19159218)2 Chen R.... Zou H. (J. Proteome Res. 2009)
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    4. Five novel mutations in the lysosomal sialidase gene (NEU1) in type II sialidosis patients and assessment of their impact on enzyme activity and intracellular targeting using adenovirus-mediated expression. (PubMed id 14695530)2 Pattison S.... Igdoura S.A. (Hum. Mutat. 2004)
    5. Analysis of the gene-dense major histocompatibility complex class III region and its comparison to mouse. (PubMed id 14656967)2 Xie T.... Hood L. (Genome Res. 2003)
    6. Novel missense mutations in the human lysosomal sialidase gene in sialidosis patients and prediction of structural alterations of mutant enzymes. (PubMed id 11829139)2 Itoh K.... Sakuraba H. (J. Hum. Genet. 2002)
    7. Intracellular distribution of lysosomal sialidase is controlled by the internalization signal in its cytoplasmic tail. (PubMed id 11571282)2 Lukong K.E.... Pshezhetsky A.V. (J. Biol. Chem. 2001)
    8. Mutations in sialidosis impair sialidase binding to the lysosomal multienzyme complex. (PubMed id 11279074)2 Lukong K.E.... Pshezhetsky A.V. (J. Biol. Chem. 2001)
    9. Characterization of the sialidase molecular defects in sialidosis patients suggests the structural organization of the lysosomal multienzyme complex. (PubMed id 10767332)2 Lukong K.E.... Pshezhetsky A.V. (Hum. Mol. Genet. 2000)
    10. Molecular and structural studies of Japanese patients with sialidosis type 1. (PubMed id 10944856)2 Naganawa Y.... Sakuraba H. (J. Hum. Genet. 2000)

    (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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    Ensembl:ENSG00000227315

    (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
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=NEU1[genesymbol]
    Wikipedia http://en.wikipedia.org/wiki/Neuraminidase

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ENSG00000227315 gene:
    Search GeneIP for patents involving ENSG00000227315

    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, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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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 , 21 Aug 2014 , 8 Sep 2014

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