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

NTAN1 Gene

protein-coding   GIFtS: 54
GCID: GC16M015131

N-Terminal Asparagine Amidase
  See related diseases
at
MalaCards
 

Aliases
for NTAN1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section
Aliases
N-Terminal Asparagine Amidase1 2     PNAD2 3
Protein N-Terminal Asn 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
PNAA2 3     

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


Summaries
for NTAN1 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for 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 tonsillitis, and dyslexia. 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)




Genomic Views
for NTAN1 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000016.9  NC_018927.2  NT_010393.16  
Regulatory elements:
   SABiosciences 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 plasmid: NTAN1 promoter sequence
   Search SABiosciences Chromatin IP Primers for NTAN1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for NTAN1 gene

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section
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)
Subcellular location: Cytoplasm (By similarity)

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

Explore proteomics data for NTAN1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q96AB6

    • NTAN1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    NTAN1 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001257695.1  NP_001257696.1  NP_775745.1  

    ENSEMBL proteins: 
     ENSP00000287706   ENSP00000457467   ENSP00000454595   ENSP00000455396   ENSP00000454883  
     ENSP00000456142  

    Human Recombinant Protein Products for NTAN1: 
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    OriGene Purified Protein for NTAN1
    OriGene Protein Over-expression Lysate for NTAN1
    OriGene MassSpec for NTAN1 
    OriGene Custom Protein Services for NTAN1
    GenScript Custom Purified and Recombinant Proteins Services for NTAN1
    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 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

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

    NTAN1 for ontologies           About GeneDecksing



    NTAN1 Antibody Products: 
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    Novus Biologicals NTAN1 Antibodies
    Abcam antibodies for NTAN1
    Cloud-Clone Corp. Antibodies for NTAN1 
    ThermoFisher Antibodies for NTAN1
    LSBio Antibodies in human, mouse, rat for NTAN1 

    Assay Products for NTAN1: 
    Browse Kits and Assays available from EMD Millipore
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    Cloud-Clone Corp. ELISAs for NTAN1 
    Cloud-Clone Corp. CLIAs for NTAN1

    Protein Domains /
    Families
    for NTAN1 gene

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

    Graphical View of Domain Structure for InterPro Entry Q96AB6

    ProtoNet protein and cluster: Q96AB6


    NTAN1 for domains           About GeneDecksing


    Function
    for NTAN1 gene

    (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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section
    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 (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008418protein-N-terminal asparagine amidohydrolase activity IEA--
         
    NTAN1 for ontologies           About GeneDecksing


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

    NTAN1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Ntan1tm1Avar for NTAN1

       inGenious Targeting Laboratory - Custom generated mouse model solutions for NTAN1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions 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:            		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat NTAN1
    2 QIAGEN miScript miRNA Assays for microRNAs that regulate NTAN1:
    hsa-miR-9 hsa-miR-192*
    SwitchGear 3'UTR luciferase reporter plasmid: NTAN1 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for NTAN1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat NTAN1

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for NTAN1
    Sirion Biotech Customized adenovirus for overexpression of NTAN1

    Clone
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    OriGene clones in human, mouse for NTAN1 (see all 7)
    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
    Sirion Biotech Customized lentivirus for stable overexpression of NTAN1 
                         Customized lentivirus expression plasmids for stable overexpression of NTAN1 

    Cell Line
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    Search LifeMap BioReagents cell lines for NTAN1
    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NTAN1


    Pathways & Interactions
    for NTAN1 gene

    (Pathways according to EMD Millipore, 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 SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section




    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for NTAN1

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    5/7 Interacting proteins for NTAN1 (Q96AB63 ENSP000002877064) via UniProtKB, MINT, STRING, and/or I2D (see all 7)
    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 (GO ID links to tree view):    About this table

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

    NTAN1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for NTAN1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    NTAN1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    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)

    Search CenterWatch for drugs/clinical trials and news about NTAN1

    Transcripts
    for NTAN1 gene

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    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:             		 QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat NTAN1
    2 QIAGEN miScript miRNA Assays for microRNAs that regulate NTAN1:
    hsa-miR-9 hsa-miR-192*
    SwitchGear 3'UTR luciferase reporter plasmid: NTAN1 3' UTR sequence
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for NTAN1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat NTAN1
    Clone
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    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)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for NTAN1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NTAN1
    Sirion Biotech Customized lentivirus for stable overexpression of NTAN1 
                         Customized lentivirus expression plasmids for stable overexpression of NTAN1 
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for NTAN1
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat NTAN1
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat NTAN1
      QIAGEN 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 

    24/160 AceView cDNA sequences (see all 160):

    CA335071 BF940446 C05835 BQ672128 BU630465 AA355375 BM994609 BQ003295 
    BQ675078 BQ671233 BQ877974 CD675020 BC017336 AI338138 BQ880919 BE676088 
    AI888718 BQ000125 BG057641 AL833023 BM762529 AA715017 BF939373 BU618217 

    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

    Expression
    for NTAN1 gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    NTAN1 expression in normal human tissues (normalized intensities)      NTAN1 embryonic expression: see
    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 
     5/9 selected tissues (see all 9) fully expand
     
     Gut Tube (Gastrointestinal Tract)    fully expand to see all 2 entries
             Foregut
             Definitive endoderm-like cells ( A scalable, suspension protocol for derivation of...
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Cerebral Cortex
             ganglion/cranial   
     
     Limb (Muscoskeletal System)    fully expand to see all 2 entries
             limb/hindlimb   
     
     Peripheral Nervous System (Nervous System)
             spinal/ganglion/dorsal root ganglion   
     
     Lower Urinary Tract (Urinary System)
             visceral organ   

    See NTAN1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for NTAN1

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

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of eukaryotes.

    Orthologs for NTAN1 gene from 7/16 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_001231312.2  XP_001231313.2 
    lizard
    (Anolis carolinensis)    		 Reptilia NTAN16
    		 Uncharacterized protein
    		 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 CG5473-PA 47.24(n)
    39.31(a)    		   37147  NM_001169728.1  NP_001163199.1 
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons AT2G444201 protein N-terminal asparagine amidohydrolase family more 45.85(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
    for NTAN1 gene

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

    NTAN1 for paralogs           About GeneDecksing


    3 Pseudogenes.org Pseudogenes for NTAN1
    PGOHUM00000238631 PGOHUM00000262198 PGOHUM00000249419


    Genomic Variants
    for NTAN1 gene

    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/454 SNPs in NTAN1 are shown (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
    ----------
    VAR_0512444
    		----see VAR_0512442 H N mis40--------
    VAR_0512454
    		----see VAR_0512452 S P mis40--------
    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--------

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

    Structural Variations
         Database of Genomic Variants (DGV) 10/19 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

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    Disorders / Diseases
    for NTAN1 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    		 OMIM gene information: 615367    OMIM disorders: --

    15 diseases for NTAN1:    About MalaCards
    tonsillitis    dyslexia    ulcerative colitis    meningitis
    acute lymphoblastic leukemia    inflammatory bowel disease    lymphoblastic leukemia    endotheliitis
    type 1 diabetes    arthritis    multiple sclerosis    hypertension
    rheumatoid arthritis    schizophrenia    leukemia

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

    NTAN1 for disorders           About GeneDecksing

    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

    Publications
    for NTAN1 gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for NTAN1 gene, integrated from 9 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 as sociated with circulating phospho- and sphingolipid concentrations. (PubMed id 22359512)1, 4 Demirkan A....Schmitz G. (2012)
    2. Genome-wide association study identifies multiple loci influencing human serum metabolite levels. (PubMed id 22286219)1, 4 Kettunen J....Ripatti S. (2012)
    3. Copy number variations of chromosome 16p13.1 region as sociated with schizophrenia. (PubMed id 19786961)1, 4 Ingason A....St Clair D.M. (2011)
    4. A genome-wide association study in 19 633 Japanese su bjects identified LHX3-QSOX2 and IGF1 as adult height loci. (PubMed id 20189936)1, 4 Okada Y....Kamatani N. (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. (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. (2004)
    7. Genome-wide meta-analysis identifies 56 bone mineral d ensity loci and reveals 14 loci associated with risk of fracture. (PubMed id 22504420)1 Estrada K....Rivadeneira F. (2012)
    8. Expression and biochemical characterization of the hu man enzyme N-terminal asparagine amidohydrolase. (PubMed id 21375249)1 Cantor J.R....Georgiou G. (2011)
    9. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1 Ota T.... Sugano S. (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. (2002)

    External Searches for NTAN1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing NTAN1 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 123803 HGNC: 29909 AceView: NTAN1 Ensembl:ENSG00000157045 euGenes: HUgn123803
    ECgene: NTAN1 H-InvDB: NTAN1

    Other Databases showing NTAN1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing NTAN1 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for NTAN1 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for NTAN1 gene

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



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