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NTHL1 Gene

protein-coding   GIFtS: 68
GCID: GC16M002089

Nth Endonuclease III-Like 1 (E. Coli)

(Previous name: nth (E.coli endonuclease III)-like 1)
  See NTHL1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Nth Endonuclease III-Like 1 (E. Coli)1 2
OCTS32 3 5
NTH12 3
Nth (E.Coli Endonuclease III)-Like 11
Endonuclease III-Like Protein 12
EC 4.2.99.183

External Ids:    HGNC: 80281   Entrez Gene: 49132   Ensembl: ENSG000000650577   OMIM: 6026565   UniProtKB: P785493   

Export aliases for NTHL1 gene to outside databases

Previous GC identifers: GC16M002107 GC16M002030 GC16M002031 GC16M002032 GC16M002014


(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 NTHL1 Gene:
The protein encoded by this gene is a DNA N-glycosylase of the endonuclease III family. Like a similar protein in
E. coli, the encoded protein has DNA glycosylase activity on DNA substrates containing oxidized pyrimidine
residues and has apurinic/apyrimidinic lyase activity. (provided by RefSeq, Oct 2008)

GeneCards Summary for NTHL1 Gene:
NTHL1 (nth endonuclease III-like 1 (E. coli)) is a protein-coding gene. Diseases associated with NTHL1 include sclerosing cholangitis, and primary sclerosing cholangitis. GO annotations related to this gene include double-stranded DNA binding and endonuclease activity.

UniProtKB/Swiss-Prot: NTHL1_HUMAN, P78549
Function: Has both an apurinic and/or apyrimidinic endonuclease activity and a DNA N-glycosylase activity. Incises
damaged DNA at cytosines, thymines and guanines. Acts on a damaged strand, 5' from the damaged site. Required for
the repair of both oxidative DNA damage and spontaneous mutagenic lesions

Gene Wiki entry for NTHL1 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 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  
Regulatory elements:
   Regulatory transcription factor binding sites in the NTHL1 gene promoter:
         NF-1   p53   STAT3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNTHL1 promoter sequence
   Search Chromatin IP Primers for NTHL1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat NTHL1


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

Entrez Gene cytogenetic band: 16p13.3   Ensembl cytogenetic band:  16p13.3   HGNC cytogenetic band: 16p13.3

NTHL1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NTHL1 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16M002089:  view genomic region     (about GC identifiers)

Start:
2,089,816 bp from pter      End:
2,097,867 bp from pter
Size:
8,052 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: NTHL1_HUMAN, P78549 (See protein sequence)
Recommended Name: Endonuclease III-like protein 1  
Size: 312 amino acids; 34390 Da
Cofactor: Binds 1 4Fe-4S cluster. The cluster does not appear to play a role in catalysis, but is probably
involved in the proper positioning of the enzyme along the DNA strand
Developmental stage: Expression levels are regulated during the cell cycle with increased levels during early and
mid S-phase
Caution: It is uncertain whether Met-1, Met-9 or Met-16 is the initiator
Sequence caution: Sequence=AAC51136.1; Type=Erroneous initiation; Sequence=AAH03014.1; Type=Erroneous initiation;
Sequence=BAA19413.1; Type=Erroneous initiation; Sequence=BAA32695.1; Type=Erroneous initiation;
Secondary accessions: Q1MVR1 Q99566 Q99794 Q9BPX2

Explore the universe of human proteins at neXtProt for NTHL1: NX_P78549

Explore proteomics data for NTHL1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See NTHL1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_002519.1  
    ENSEMBL proteins: 
     ENSP00000219066   ENSP00000455267   ENSP00000457818   ENSP00000456301  
    Reactome Protein details: P78549

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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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    Selected InterPro protein domains (see all 6):
     IPR000445 HhH_motif
     IPR023170 HTH_base_excis_C
     IPR011257 DNA_glycosylase
     IPR003651 Endouclease3_FeS-loop_motif
     IPR004036 Endonuclease-III-like_CS2

    Graphical View of Domain Structure for InterPro Entry P78549

    ProtoNet protein and cluster: P78549

    2 Blocks protein domains:
    IPB004036 Endonuclease III
    IPB011257 DNA glycosylase


    UniProtKB/Swiss-Prot: NTHL1_HUMAN, P78549
    Similarity: Belongs to the Nth/MutY family


    Find genes that share domains with NTHL1           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: NTHL1_HUMAN, P78549
    Function: Has both an apurinic and/or apyrimidinic endonuclease activity and a DNA N-glycosylase activity. Incises
    damaged DNA at cytosines, thymines and guanines. Acts on a damaged strand, 5' from the damaged site. Required for
    the repair of both oxidative DNA damage and spontaneous mutagenic lesions
    Catalytic activity: The C-O-P bond 3' to the apurinic or apyrimidinic site in DNA is broken by a beta-elimination
    reaction, leaving a 3'-terminal unsaturated sugar and a product with a terminal 5'-phosphate

         Genatlas biochemistry entry for NTHL1:
    nth (E coli endonuclease III)-like 1,34.3 kDa,with lyase activity,involved in the excision of damaged pyrimidines

         Enzyme Number (IUBMB): EC 4.2.99.181

         Gene Ontology (GO): Selected molecular function terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding ----
    GO:0003690double-stranded DNA binding IDA15358233
    GO:0003824catalytic activity ----
    GO:0003906DNA-(apurinic or apyrimidinic site) lyase activity IDA8990169
    GO:0004519endonuclease activity TAS9831664
         
    Find genes that share ontologies with NTHL1           About GenesLikeMe


    Phenotypes:
         3 GenomeRNAi human phenotypes for NTHL1:
     Decreased homologous recombina  Decreased influenza A H1N1 (A/  Decreased influenza A/WSN/33 r 

         5 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Nthl1):
     behavior/neurological  cellular  homeostasis/metabolism  other  tumorigenesis 

    Find genes that share phenotypes with NTHL1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for NTHL1: Nthl1tm1Tbor Nthl1tm1Yas

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for NTHL1
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    hsa-mir-93-5p (MIRT048860), hsa-mir-16-5p (MIRT031740), hsa-mir-92a-3p (MIRT049546), hsa-mir-124-3p (MIRT022743)

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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
    NTHL1_HUMAN, P78549: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    mitochondrion2
    cytosol1
    peroxisome1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA12531031
    GO:0005654nucleoplasm TAS--
    GO:0005739mitochondrion IEA--

    Find genes that share ontologies with NTHL1           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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    SuperPaths for NTHL1 About    
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Resolution of Abasic Sites (AP sites)
    Resolution of Abasic Sites (AP sites)0.89
    Base Excision Repair0.00
    Resolution of AP sites via the multiple-nucleotide patch replacement pathway0.89
    Displacement of DNA glycosylase by APE10.00
    Base excision repair0.53
    Resolution of AP sites via the single-nucleotide replacement pathway0.00
    Base-Excision Repair, AP Site Formation0.00
    Removal of DNA patch containing abasic residue0.00
    2Cleavage of the damaged pyrimidine
    Cleavage of the damaged pyrimidine
    Depyrimidination0.00
    Recognition and association of DNA glycosylase with site containing an affected pyrimidine0.00
    3DNA Repair
    DNA Repair0.45
    4Chks in Checkpoint Regulation
    DNA Repair Mechanisms0.32
    5DNA damage Role of Brca1 and Brca2 in DNA repair
    DNA damage Role of Brca1 and Brca2 in DNA repair


    Find genes that share SuperPaths with NTHL1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for NTHL1
        DNA Repair Mechanisms

    1 GeneGo (Thomson Reuters) Pathway for NTHL1
        DNA damage Role of Brca1 and Brca2 in DNA repair

    3 Reactome Pathways for NTHL1
        Recognition and association of DNA glycosylase with site containing an affected pyrimidine
    Displacement of DNA glycosylase by APE1
    Cleavage of the damaged pyrimidine


    1 Kegg Pathway  (Kegg details for NTHL1):
        Base excision repair

        Pathway & Disease-focused RT2 Profiler PCR Arrays including NTHL1: 
              DNA Damage Signaling Pathway in human mouse rat
              DNA Repair in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for NTHL1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for NTHL1 (P785493 ENSP000002190664) via UniProtKB, MINT, STRING, and/or I2D (see all 111)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GAPDHSO145563, ENSP000002222864I2D: score=2 STRING: ENSP00000222286
    MYH7P128833, ENSP000003475074I2D: score=2 STRING: ENSP00000347507
    OGG1O155273, ENSP000003065614I2D: score=1 STRING: ENSP00000306561
    PAPD5Q8NDF83, ENSP000003969954I2D: score=1 STRING: ENSP00000396995
    PEX14O753813, ENSP000003490164I2D: score=1 STRING: ENSP00000349016
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000737DNA catabolic process, endonucleolytic IDA8990169
    GO:0006281DNA repair TAS--
    GO:0006284base-excision repair TAS--
    GO:0006285base-excision repair, AP site formation TAS--
    GO:0006296nucleotide-excision repair, DNA incision, 5'-to lesion IDA8990169

    Find genes that share ontologies with NTHL1           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
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      Browse compounds at ApexBio 

    Browse Tocris compounds for NTHL1

    2 Novoseek inferred chemical compound relationships for NTHL1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    thymine glycol 88.6 3 19414504 (2)
    oxygen 4.87 1 17389588 (1)



    Find genes that share compounds with NTHL1           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 NTHL1 gene: 
    NM_002528.5  

    Unigene Cluster for NTHL1:

    Nth endonuclease III-like 1 (E. coli)
    Hs.66196  [show with all ESTs]
    Unigene Representative Sequence: BQ067653
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000219066(uc002col.1) ENST00000561862 ENST00000565406 ENST00000566380
    ENST00000562951 ENST00000568513 ENST00000567727 ENST00000561841 ENST00000562120

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    Additional mRNA sequence: 

    AB001575.1 AK298247.1 BC000391.2 BC003014.1 U79718.1 U81285.1 Y09687.1 

    4 DOTS entries:

    DT.111381  DT.120674915  DT.95275667  DT.91766138 

    12 AceView cDNA sequences:

    BC003014 CR597616 BC000391 AB001575 CR625882 U81285 NM_002528 U79718 
    Y09687 BX444894 BX379864 BE693591 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for NTHL1 (see all 6)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b · 2c ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b · 6c · 6d
    SP1:                                -     -                 -                                       
    SP2:                                      -                 -                                       
    SP3:                                      -     -           -                                       
    SP4:                                      -     -           -                                       
    SP5:                                                        -                                       


    ECgene alternative splicing isoforms for NTHL1

    (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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    NTHL1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCTCTGGCCG
    NTHL1 Expression
    About this image


    NTHL1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Pancreas (Endocrine System)
             Islets of Langerhans
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
    NTHL1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    NTHL1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.66196

    UniProtKB/Swiss-Prot: NTHL1_HUMAN, P78549
    Tissue specificity: Widely expressed with highest levels in heart and lowest levels in lung and liver

        Pathway & Disease-focused RT2 Profiler PCR Arrays including NTHL1: 
              DNA Damage Signaling Pathway in human mouse rat
              DNA Repair in human mouse rat

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NTHL1

    (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 animals and fungi.

    Orthologs for NTHL1 gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Nthl11 , 5 nth (endonuclease III)-like 1 (E.coli)1, 5 81.02(n)1
    82.03(a)1
      17 (12.42 cM)5
    182071  NM_008743.21  NP_032769.21 
     246326825 
    chicken
    (Gallus gallus)
    Aves NTHL11 nth endonuclease III-like 1 (E. coli) 71.39(n)
    72.05(a)
      416551  NM_001079575.1  NP_001073043.1 
    lizard
    (Anolis carolinensis)
    Reptilia NTHL16
    nth endonuclease III-like 1 (E. coli)
    75(a)
    1 ↔ 1
    GL344117.1(13876-16144)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.114482 Transcribed sequence with moderate similarity to protein refNP_002519.1 (H.sapiens) nth endonuclease III-like 1 (E. coli); nth (E.coli endonuclease III)-like 1 [Homo sapiens] less 73.96(n)    137694998 
    zebrafish
    (Danio rerio)
    Actinopterygii nthl11 nth endonuclease III-like 1 (E. coli) 69.37(n)
    73.42(a)
      100008368  XM_001346607.4  XP_001346643.3 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG92721 , 3 DNA repair pyrimidine-specific oxidized
    base lesion DNA N-glycosylase less3
    CG92721
    50(a)3
    54.86(n)1
    50.19(a)1
      38F63
    353651  NM_136234.31  NP_610078.21 
    worm
    (Caenorhabditis elegans)
    Secernentea R10E4.53
    nth-11
    endonuclease3
    nth-11
    51(a)3
    53.86(n)1
    51.39(a)1
      III(4363463-4365134)3
    1877701  NM_001267978.11  NP_001254907.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes NTG1(YAL015C)4 DNA N-glycosylase and apurinic/apyrimidinic (AP) lyase involved in base excision repair; acts in both nucleus and mitochondrion; creates a double-strand break at mtDNA origins that stimulates replication in response to oxidative stress less   --   1(128102-126903) 851218  NP_009387.1 


    ENSEMBL Gene Tree for NTHL1 (if available)
    TreeFam Gene Tree for NTHL1 (if available)

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

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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)
    About This Section

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    Selected SNPs for NTHL1 (see all 198)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1489454281,2
    C--2024289(+) CCCTGC/TGACCT 1 -- ds50010--------
    rs1931829721,2
    C--2024395(+) ACCCTC/GGCAGA 1 -- ds50010--------
    rs1431415371,2
    --2024465(+) GGGGCC/TGGCGG 1 -- ds50010--------
    rs32119921,2
    H--2024632(-) GGGACG/ATGACA 1 -- ds50015Minor allele frequency- A:0.00NS EA 594
    rs32119911,2
    H--2024672(-) GCTCGC/AGTGTC 1 -- ds50015Minor allele frequency- A:0.00NS EA 596
    rs1122911821,2
    C--2024784(+) ATTCAG/ACAGGC 1 -- ut311Minor allele frequency- A:0.50CSA 2
    rs125961941,2
    C,H--2024798(+) GCTTCC/TTGAAG 1 -- ut31 ese34Minor allele frequency- T:0.00NS EA 418
    rs2004208741,2
    --2024901(+) GTTGAA/GGCAGG 2 L F mis10--------
    rs1482535651,2
    C--2024915(+) GGCAGC/TGAGGG 2 H R mis11Minor allele frequency- T:0.00NA 4476
    rs1463470921,2
    C,F--2024943(+) CTGCTG/AGCCGA 2 /Q /* stg12Minor allele frequency- A:0.00NA EU 5577

    HapMap Linkage Disequilibrium report for NTHL1 (2089816 - 2097867 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for NTHL1 (see all 19):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2422427CNV Duplication17116639
    dgv2545n71CNV Loss21882294
    dgv2546n71CNV Loss21882294
    nsv905048CNV Loss21882294
    nsv905101CNV Loss21882294
    dgv2540n71CNV Loss21882294
    nsv905102CNV Loss21882294
    nsv523037CNV Loss19592680
    nsv471072CNV Loss18288195
    dgv2547n71CNV Loss21882294

    Human Gene Mutation Database (HGMD): NTHL1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing NTHL1
    DNA2.0 Custom Variant and Variant Library Synthesis for NTHL1

    (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: 602656    OMIM disorders: --

    3 diseases for NTHL1:    
    About MalaCards
    sclerosing cholangitis    primary sclerosing cholangitis    mitochondrial disorders


    Find genes that share disorders with NTHL1           About GenesLikeMe

    2 Novoseek inferred disease relationships for NTHL1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tuberous sclerosis 45.3 2 9831664 (1), 8990169 (1)
    cancer 6.1 1 19443904 (1)

    Genetic Association Database (GAD): NTHL1
    Human Genome Epidemiology (HuGE) Navigator: NTHL1 (8 documents)

    Export disorders for NTHL1 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 NTHL1 gene, integrated from 10 sources (see all 67):
    (articles sorted by number of sources associating them with NTHL1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and characterization of a functional human homolog of Escherichia coli endonuclease III. (PubMed id 8990169)1, 2, 3, 9 Aspinwall R....Hickson I.D. (Proc. Natl. Acad. Sci. U.S.A. 1997)
    2. Cloning and expression of the cDNA encoding the human homologue of the DNA repair enzyme, Escherichia coli endonuclease III. (PubMed id 9045706)1, 2, 3 Hilbert T.P.... Teebor G.W. (J. Biol. Chem. 1997)
    3. Altered expression of the human base excision repair gene NTH1 in gastric cancer. (PubMed id 19414504)1, 4, 9 Goto M....Sugimura H. (Carcinogenesis 2009)
    4. Genomic structure and sequence of a human homologue (NTHL1/NTH1) of Escherichia coli endonuclease III with those of the adjacent parts of TSC2 and SLC9A3R2 genes. (PubMed id 9831664)1, 2, 9 Imai K.... Seki S. (Gene 1998)
    5. Inherited predisposition to colorectal adenomas caused by multiple rare alleles of MUTYH but not OGG1, NUDT1, NTH1 or NEIL 1, 2 or 3. (PubMed id 18515411)1, 4, 9 Dallosso A.R....Sampson J.R. (Gut 2008)
    6. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)
    7. Variation within DNA repair pathway genes and risk of multiple sclerosis. (PubMed id 20522537)1, 4 Briggs F.B....Barcellos L.F. (Am. J. Epidemiol. 2010)
    8. Association between genetic variants in the base excision repair pathway and outcomes after hematopoietic cell transplantations. (PubMed id 20226869)1, 4 Thyagarajan B....Arora M. (Biol. Blood Marrow Transplant. 2010)
    9. Joint influence of small-effect genetic variants on human longevity. (PubMed id 20834067)1, 4 Yashin A.I....Ukraintseva S.V. (Aging (Albany NY) 2010)
    10. Polymorphisms in the base excision repair pathway and graft-versus-host disease. (PubMed id 20574454)1, 4 Arora M....Thyagarajan B. (Leukemia 2010)

    (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)
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    Entrez Gene: 4913 HGNC: 8028 AceView: NTHL1 Ensembl:ENSG00000065057 euGenes: HUgn4913
    ECgene: NTHL1 Kegg: 4913 H-InvDB: NTHL1

    (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)
    About This Section

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    NameDescription
    PharmGKB entry for NTHL1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for NTHL1 Genetics and Cytogenetics in Oncology and Haematology
    NIEHS-SNPshttp://egp.gs.washington.edu/data/nthl1/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for NTHL1 gene:
    Search GeneIP for patents involving NTHL1

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



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