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NTAN1 Gene

protein-coding   GIFtS: 55
GCID: GC16M015131

N-Terminal Asparagine Amidase

  See NTAN1-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
N-Terminal Asparagine Amidase1 2     PNAA2 3
Protein N-Terminal Asn Amidase2 3     PNAD2 3
Protein N-Terminal Asparagine Amidase2 3     Protein N-Terminal Asparagine Amidohydrolase2
Protein NH2-Terminal Asparagine Deamidase2 3     EC 3.5.1.-3
Protein NTN-Amidase2 3     Protein NH2-Terminal Asparagine Amidohydrolase3

External Ids:    HGNC: 299091   Entrez Gene: 1238032   Ensembl: ENSG000001570457   OMIM: 6153675   UniProtKB: Q96AB63   

Export aliases for NTAN1 gene to outside databases

Previous GC identifers: GC16M015098 GC16M015039 GC16M014776


(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 NTAN1 Gene:
The protein encoded by this gene functions in a step-wise process of protein degradation through the N-end rule
pathway. This protein acts as a tertiary destabilizing enzyme that deamidates N-terminal L-Asn residues on
proteins to produce N-terminal L-Asp. L-Asp substrates are subsequently conjugated to L-Arg, which is recognized
by specific E3 ubiquitin ligases and targeted to the proteasome. Pseudogenes of this gene are located on the long
arms of chromosomes 8, 10 and 12. Alternative splicing results in multiple transcript variants that encode
different protein isoforms. (provided by RefSeq, Jul 2012)

GeneCards Summary for NTAN1 Gene:
NTAN1 (N-terminal asparagine amidase) is a protein-coding gene. Diseases associated with NTAN1 include secondary progressive multiple sclerosis. GO annotations related to this gene include protein-N-terminal asparagine amidohydrolase activity.

UniProtKB/Swiss-Prot: NTAN1_HUMAN, Q96AB6
Function: Side-chain deamidation of N-terminal asparagine residues to aspartate. Required for the
ubiquitin-dependent turnover of intracellular proteins that initiate with Met-Asn. These proteins are acetylated
on the retained initiator methionine and can subsequently be modified by the removal of N-acetyl methionine by
acylaminoacid hydrolase (AAH). Conversion of the resulting N-terminal asparagine to aspartate by PNAD renders the
protein susceptible to arginylation, polyubiquitination and degradation as specified by the N-end rule. This
enzyme does not act on substrates with internal or C-terminal asparagines and does not act on glutamine residues
in any position (By similarity)




(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 at NCBI GenBank:
NC_000016.9  NC_018927.2  NT_010393.17  NT_187607.1  
Regulatory elements:
   Regulatory transcription factor binding sites in the NTAN1 gene promoter:
         TBP   RREB-1   Pax-2   Pax-2a   STAT5A   Tal-1beta   Nkx6-1   Pax-2b   TFIID   ITF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNTAN1 promoter sequence
   Search Chromatin IP Primers for NTAN1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat NTAN1


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

Entrez Gene cytogenetic band: 16p13.11   Ensembl cytogenetic band:  16p13.11   HGNC cytogenetic band: 16p13

NTAN1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NTAN1 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16M015131:  view genomic region     (about GC identifiers)

Start:
15,131,710 bp from pter      End:
15,149,921 bp from pter
Size:
18,212 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: NTAN1_HUMAN, Q96AB6 (See protein sequence)
Recommended Name: Protein N-terminal asparagine amidohydrolase  
Size: 310 amino acids; 34677 Da
Subunit: Monomer (By similarity)

Explore the universe of human proteins at neXtProt for NTAN1: NX_Q96AB6

Explore proteomics data for NTAN1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See NTAN1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001257695.1  NP_001257696.1  NP_775745.1  

    ENSEMBL proteins: 
     ENSP00000287706   ENSP00000457467   ENSP00000454595   ENSP00000455396   ENSP00000454883  
     ENSP00000456142  

    NTAN1 Human Recombinant Protein Products:

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    Novus Biologicals NTAN1 Protein
    Novus Biologicals NTAN1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for NTAN1

     
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    Cloud-Clone Corp. ELISAs for NTAN1
    Cloud-Clone Corp. CLIAs for NTAN1
    Search eBioscience for ELISAs for NTAN1 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR026750 NTAN1

    Graphical View of Domain Structure for InterPro Entry Q96AB6

    ProtoNet protein and cluster: Q96AB6


    Find genes that share domains with NTAN1           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: NTAN1_HUMAN, Q96AB6
    Function: Side-chain deamidation of N-terminal asparagine residues to aspartate. Required for the
    ubiquitin-dependent turnover of intracellular proteins that initiate with Met-Asn. These proteins are acetylated
    on the retained initiator methionine and can subsequently be modified by the removal of N-acetyl methionine by
    acylaminoacid hydrolase (AAH). Conversion of the resulting N-terminal asparagine to aspartate by PNAD renders the
    protein susceptible to arginylation, polyubiquitination and degradation as specified by the N-end rule. This
    enzyme does not act on substrates with internal or C-terminal asparagines and does not act on glutamine residues
    in any position (By similarity)

         Enzyme Number (IUBMB): EC 3.5.1.-1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008418protein-N-terminal asparagine amidohydrolase activity IEA--
         
    Find genes that share ontologies with NTAN1           About GenesLikeMe


    Phenotypes:
         6 MGI mutant phenotypes (inferred from 1 allele(MGI details for Ntan1):
     behavior/neurological  cellular  growth/size/body  hematopoietic system  immune system 
     mortality/aging 

    Find genes that share phenotypes with NTAN1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Ntan1tm1Avar for NTAN1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for NTAN1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for NTAN1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for NTAN1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for NTAN1

    miRNA
    Products:
        
    miRTarBase miRNAs that target NTAN1:
    hsa-mir-100-5p (MIRT048539)

    Block miRNA regulation of human, mouse, rat NTAN1 using miScript Target Protectors
    2 qRT-PCR Assays for microRNAs that regulate NTAN1:
    hsa-miR-9 hsa-miR-192*
    SwitchGear 3'UTR luciferase reporter plasmidNTAN1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for NTAN1
    Predesigned siRNA for gene silencing in human, mouse, rat NTAN1

    Gene Editing
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    DNA2.0 Custom Protein Engineering Service for NTAN1

    Clone
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    OriGene clones in human, mouse for NTAN1 (see all 6)
    OriGene ORF clones in mouse, rat for NTAN1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: NTAN1 (NM_173474)
    Sino Biological Human cDNA Clone for NTAN1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for NTAN1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NTAN1

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for NTAN1 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NTAN1


    (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
    NTAN1_HUMAN, Q96AB6: Cytoplasm (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol3
    nucleus2
    extracellular1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--
    GO:0005737cytoplasm IEA--

    Find genes that share ontologies with NTAN1           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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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for NTAN1
    Interactions:

        Search GeneGlobe Interaction Network for NTAN1

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

    Selected Interacting proteins for NTAN1 (Q96AB63 ENSP000002877064) via UniProtKB, MINT, STRING, and/or I2D (see all 10)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    AKT3Q9Y2433I2D: score=2 
    ARHGAP1Q079603I2D: score=2 
    CCNA1P783963I2D: score=2 
    PLD3Q8IV083I2D: score=2 
    SIRT2Q8IXJ63I2D: score=1 
    About this table

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007613memory IEA--
    GO:0008344adult locomotory behavior IEA--

    Find genes that share ontologies with NTAN1           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 NTAN1

    1 Novoseek inferred chemical compound relationship for NTAN1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    rantes 35.3 2 12537753 (1), 9862717 (1)



    Find genes that share compounds with NTAN1           About GenesLikeMe



    (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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    REFSEQ mRNAs for NTAN1 gene (3 alternative transcripts): 
    NM_001270766.1  NM_001270767.1  NM_173474.3  

    Unigene Cluster for NTAN1:

    N-terminal asparagine amidase
    Hs.592045  [show with all ESTs]
    Unigene Representative Sequence: NM_173474
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000287706(uc002ddd.3 uc010uzo.2) ENST00000566542 ENST00000565187
    ENST00000568738 ENST00000568320 ENST00000566419 ENST00000570292 ENST00000563940
    ENST00000567030 ENST00000567420
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat NTAN1 using miScript Target Protectors
    2 qRT-PCR Assays for microRNAs that regulate NTAN1:
    hsa-miR-9 hsa-miR-192*
    SwitchGear 3'UTR luciferase reporter plasmidNTAN1 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for NTAN1
    Predesigned siRNA for gene silencing in human, mouse, rat NTAN1
    Clone
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    GenScript: all cDNA clones in your preferred vector: NTAN1 (NM_173474)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for NTAN1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NTAN1
    Primer
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    OriGene qPCR primer pairs and template standards for NTAN1
    OriGene qSTAR qPCR primer pairs in human, mouse for NTAN1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat NTAN1
      QuantiTect SYBR Green Assays in human, mouse, rat NTAN1
      QuantiFast Probe-based Assays in human, mouse, rat NTAN1

    Additional mRNA sequence: 

    AF092440.1 BC017336.2 

    14 DOTS entries:

    DT.101985690  DT.448248  DT.95171940  DT.102842087  DT.100663477  DT.120692166  DT.95171942  DT.97857169 
    DT.100638061  DT.100652519  DT.100754485  DT.87046049  DT.91703572  DT.95238224 

    Selected AceView cDNA sequences (see all 160):

    BQ000125 C05835 BM994609 BF939373 BU630465 NM_173474 AA745642 BQ877974 
    AI888718 BU618217 BM762529 BF940446 BQ675078 BQ003295 BQ671233 BQ672128 
    CA335071 BE676088 BM553442 CD675020 AA715017 AL833023 AI338138 BQ880919 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for NTAN1    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b
    SP1:                                -                                             
    SP2:                                -     -                                       
    SP3:                                                                              


    ECgene alternative splicing isoforms for NTAN1

    (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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    NTAN1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AATTACCAAA
    NTAN1 Expression
    About this image


    NTAN1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Gut Tube (Gastrointestinal Tract)
             Foregut
     
     Neural Tube (Nervous System)
             Telencephalon
     
     Brain (Nervous System)
             Cerebral Cortex
    NTAN1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    NTAN1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.592045
        Custom PCR Arrays for NTAN1
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NTAN1

    (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 NTAN1 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ntan11 , 5 N-terminal Asn amidase1, 5 89.25(n)1
    92.26(a)1
      16 (9.64 cM)5
    182031  NM_010946.31  NP_035076.11 
     138192515 
    chicken
    (Gallus gallus)
    Aves NTAN11 N-terminal asparagine amidase 71.23(n)
    69.06(a)
      768445  XM_001231312.3  XP_001231313.2 
    lizard
    (Anolis carolinensis)
    Reptilia NTAN16
    N-terminal asparagine amidase
    63(a)
    1 ↔ 1
    GL343580.1(79305-99724)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.24322 Transcribed sequence with weak similarity to protein more 75.45(n)    AL868905.2 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc778692 hypothetical protein MGC77869 72.26(n)   393824  BC062529.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta SP26371 SP2637 47.21(n)
    39.25(a)
      37147  NM_137511.3  NP_611355.2 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT2G444201 AT2G44420 45.98(n)
    32.81(a)
      819049  NM_130005.2  NP_566017.1 


    ENSEMBL Gene Tree for NTAN1 (if available)
    TreeFam Gene Tree for NTAN1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for NTAN1 gene
    1 SIMAP similar gene for NTAN1 using alignment to 6 protein entries:     NTAN1_HUMAN (see all proteins):
    DKFZp666E058

    Find genes that share paralogs with NTAN1           About GenesLikeMe


    3 Pseudogenes.org Pseudogenes for NTAN1
    PGOHUM00000238631 PGOHUM00000262198 PGOHUM00000249419


    (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 NTAN1 (see all 454)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs348054141,2
    C--15092228(+) CTAGC-/T/TT  
            
    TTTTT
    3 -- int12NA 4
    rs1493562831,2
    C--15132079(+) ACACAA/CGATGG 3 -- int10--------
    rs27401,2
    C,F,H--15132108(-) GACAGT/CAAGGT 3 -- int125Minor allele frequency- C:0.31MN NA NS EA CSA WA 2680
    rs1844228361,2
    C--15132111(+) TTACTA/GTCCCC 3 -- int10--------
    rs1115361781,2
    C--15132211(+) AGAAAAAAG    
       TTG
    /-
    AAAGT
    3 -- int11Minor allele frequency- -:0.50CSA 2
    rs610431801,2
    C--15132212(+) GTTGA-/AAAGTT
    G
    /AAGTTGA
    TTGCT
    3 -- int10--------
    rs2016585491,2
    --15132236(+) TTTAC-/CCACA 
     CACATTT
    CCATC
    3 -- int10--------
    rs1446933211,2
    --15132303(+) TGTCAA/TTGGCA 3 -- int10--------
    rs49851531,2
    C,F,H--15132364(-) aAAAAA/GAGGGT 3 -- int1 trp38Minor allele frequency- G:0.01NS EA NA 1002
    rs1480820881,2
    --15132372(+) TTTCTA/TACAGA 3 -- int10--------

    HapMap Linkage Disequilibrium report for NTAN1 (15131710 - 15149921 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for NTAN1 (see all 19):    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv509598CNV Insertion20534489
    dgv2606n71CNV Loss21882294
    dgv344n27CNV Loss19166990
    dgv2608n71CNV Loss21882294
    nsv905369CNV Loss21882294
    nsv905374CNV Gain21882294
    nsv905380CNV Gain21882294
    dgv2607n71CNV Gain21882294
    nsv905361CNV Gain21882294
    nsv457426CNV Gain19166990

    Human Gene Mutation Database (HGMD): NTAN1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing NTAN1
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 615367    OMIM disorders: --

    1 disease for NTAN1:    
    About MalaCards
    secondary progressive multiple sclerosis

    1 disease from the University of Copenhagen DISEASES database for NTAN1:
    Dyslexia

    Find genes that share disorders with NTAN1           About GenesLikeMe

    2 Novoseek inferred disease relationships for NTAN1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    inflammation 31.2 7 15591109 (2), 8256856 (1), 16772045 (1), 11592062 (1)
    arthritis 7.33 5 16772045 (3)

    Genetic Association Database (GAD): NTAN1
    Human Genome Epidemiology (HuGE) Navigator: NTAN1 (2 documents)

    Export disorders for NTAN1 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 NTAN1 gene, integrated from 10 sources (see all 46):
    (articles sorted by number of sources associating them with NTAN1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations. (PubMed id 22359512)1, 4 Demirkan A....Schmitz G. (PLoS Genet. 2012)
    2. Genome-wide association study identifies multiple loci influencing human serum metabolite levels. (PubMed id 22286219)1, 4 Kettunen J....Ripatti S. (Nat. Genet. 2012)
    3. Copy number variations of chromosome 16p13.1 region associated with schizophrenia. (PubMed id 19786961)1, 4 Ingason A....St Clair D.M. (Mol. Psychiatry 2011)
    4. A genome-wide association study in 19 633 Japanese subjects identified LHX3-QSOX2 and IGF1 as adult height loci. (PubMed id 20189936)1, 4 Okada Y....Kamatani N. (Hum. Mol. Genet. 2010)
    5. Genetic predictors of glucocorticoid-induced hypertension in children with acute lymphoblastic leukemia. (PubMed id 18496130)1, 4 Kamdem L.K....Relling M.V. (Pharmacogenet. Genomics 2008)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    7. Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture. (PubMed id 22504420)1 Estrada K....Rivadeneira F. (Nat. Genet. 2012)
    8. Expression and biochemical characterization of the human enzyme N-terminal asparagine amidohydrolase. (PubMed id 21375249)1 Cantor J.R....Georgiou G. (Biochemistry 2011)
    9. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1 Ota T.... Sugano S. (Nat. Genet. 2004)
    10. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)

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

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

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

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    Entrez Gene: 123803 HGNC: 29909 AceView: NTAN1 Ensembl:ENSG00000157045 euGenes: HUgn123803
    ECgene: NTAN1 H-InvDB: NTAN1

    (According to HUGE)
    About This Section

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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 NTAN1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for NTAN1 gene:
    Search GeneIP for patents involving NTAN1

    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
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