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

NTHL1 Gene

protein-coding   GIFtS: 65
GCID: GC16M002089

nth endonuclease III-like 1 (E. coli)

(Previous name: nth (E.coli endonuclease III)-like 1 )
 Explore 16 diseases affiliated with
NTHL1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for NTHL1    

Aliases
for NTHL1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Nth Endonuclease III-Like 1 (E. Coli)1 2
OCTS31 2 3 5
NTH11 2 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


Summaries
for NTHL1 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 NTHL1:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000016.9  NC_018927.1  NT_010393.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the NTHL1 gene promoter:
         NF-1   p53   STAT3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: NTHL1 promoter sequence
   Search SABiosciences Chromatin IP Primers for NTHL1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for NTHL1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
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 is not important for the catalytic activity, but is probably involved in
the proper positioning of the enzyme along the DNA strand
Subcellular location: Nucleus
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P78549

    • NTHL1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_002519.1  
    ENSEMBL proteins: 
     ENSP00000219066   ENSP00000455267   ENSP00000457818   ENSP00000456301  
    Reactome Protein details: P78549
    Human Recombinant Protein Products: 
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    Uscn Proteins for NTHL1

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

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


    NTHL1 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for NTHL1

    Protein Domains /
    Families
    for NTHL1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    NTHL1 for domains           About GeneDecksing

    5/6 InterPro domains/families (see all 6):
     IPR000445 HhH_motif
     IPR023170 HTH_base_excis_C
     IPR011257 DNA_glycosylase
     IPR003651 Endouclease3_FeS-loop_motif
     IPR004036 Endonuclease-III_CS2

    Graphical View of Domain Structure for InterPro Entry P78549

    ProtoNet protein and cluster: P78549

    2 Blocks protein families:
    IPB004036 Endonuclease III
    IPB011257 DNA glycosylase


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


    Function
    for NTHL1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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
    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

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    Gene Editing
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    Clone
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    In Situ Assay
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    Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003690double-stranded DNA binding IDA15358233
    GO:0003906DNA-(apurinic or apyrimidinic site) lyase activity IDA8990169
    GO:0004519endonuclease activity IEA--
    GO:0005515protein binding IPI15358233
    GO:0019104DNA N-glycosylase activity IDA10882850


    NTHL1 for ontologies           About GeneDecksing


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

    Animal Models:
         Mouse knock-outs for NTHL1: Nthl1tm1Tbor Nthl1tm1Yas
         5 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Nthl1):
     behavior/neurological  cellular  homeostasis/metabolism  other  tumorigenesis 

    NTHL1 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for NTHL1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Base-Excision Repair, AP Site Formation
    		Base-Excision Repair, AP Site Formation1.00
    		Recognition and association of DNA glycosylase with site containing an affected pyrimidine0.62
    		Displacement of DNA glycosylase by APE10.89
    		Cleavage of the damaged pyrimidine 0.62
    		Base-free sugar-phosphate removal via the single-nucleotide replacement pathway0.80
    		Depyrimidination0.62
    		Resolution of AP sites via the single-nucleotide replacement pathway0.67
    2Resolution of Abasic Sites (AP sites)
    		Resolution of Abasic Sites (AP sites)1.00
    		Resolution of AP sites via the multiple-nucleotide patch replacement pathway0.89
    		Base Excision Repair1.00
    		Base excision repair0.51
    		Removal of DNA patch containing abasic residue0.89
    3Formation of RNA Pol II elongation complex
    		DNA damage_Role of Brca1 and Brca2 in DNA repair0.17
    		DNA damage Role of Brca1 and Brca2 in DNA repair0.17
    4Nucleotide Excision Repair
    		DNA Repair0.46
    5Chks in Checkpoint Regulation
    		DNA Repair Mechanisms0.32

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 EMD Millipore Pathway for NTHL1
        DNA damage Role of Brca1 and Brca2 in DNA repair

    1 Downloadable PowerPoint Slide of QIAGEN 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

    5/12        Reactome Pathways for NTHL1 (see all 12)
        Recognition and association of DNA glycosylase with site containing an affected pyrimidine
    Removal of DNA patch containing abasic residue
    DNA Repair
    Resolution of AP sites via the multiple-nucleotide patch replacement pathway
    Base-Excision Repair, AP Site Formation


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


    NTHL1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for NTHL1

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

    5/54 Interacting proteins for NTHL1 (P785493 ENSP000002190664) via UniProtKB, MINT, STRING, and/or I2D (see all 54)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ERCC5P287153, ENSP000003479784I2D: score=3 STRING: ENSP00000347978
    GAPDHSO145563, ENSP000002222864I2D: score=2 STRING: ENSP00000222286
    OGG1O155273, ENSP000003065614I2D: score=1 STRING: ENSP00000306561
    NUDT1P366393, ENSP000003395034I2D: score=2 STRING: ENSP00000339503
    RNMTL1Q9HC363, ENSP000003060804I2D: score=2 STRING: ENSP00000306080
    About this table

    Gene Ontology (GO): 5 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    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
    GO:0045008depyrimidination TAS--


    NTHL1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for NTHL1 gene

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

    NTHL1 for compounds           About GeneDecksing

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

    Browse Tocris compounds for NTHL1
    2 Novoseek 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)

    Search CenterWatch for drugs/clinical trials and news about NTHL1 

    Transcripts
    for NTHL1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    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, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    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
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000219066(uc002col.1) ENST00000561862 ENST00000565406 ENST00000566380
    ENST00000562951 ENST00000568513 ENST00000567727 ENST00000561841 ENST00000562120
    ENST00000569594

    miRNA
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    Clone
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    Additional cDNA 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:

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

    GeneLoc Exon Structure

    5/6 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

    Expression
    for NTHL1 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

    NTHL1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GCTCTGGCCG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image
    See NTHL1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for NTHL1

    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

        SABiosciences Expression via Pathway-Focused PCR Arrays including NTHL1: 
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              DNA Repair in human mouse rat

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    In Situ
    Assay Products:     
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    Orthologs
    for NTHL1 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 last universal common ancestor (LUCA).

    Orthologs for NTHL1 gene from 11/38 species (see all 38)    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) 69.6(n)
    70.7(a)    		   416551  NM_001079575.1  NP_001073043.1 
    lizard
    (Anolis carolinensis)    		 Reptilia NTHL16
    		 --
    		 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) 67.91(n)
    71.49(a)    		   100008368  XM_001346607.3  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
    54.77(n)1
    50.59(a)1    		   38F63
    353651  NM_136234.21  NP_610078.21 
    worm
    (Caenorhabditis elegans)    		 Secernentea R10E4.53
    nth-11    		 endonuclease3
    Protein NTH-11    		 51(a)3
    54.53(n)1
    52.43(a)1    		   III(4363463-4365134)3
    1877701  NM_065458.11  NP_497859.11 
    baker's yeast
    (Saccharomyces cerevisiae)    		 Saccharomycetes NTG1(YAL015C)4
    NTG21    		 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 less4
    Ntg2p1    		 47.62(n)1
    41.9(a)1    		   1(128102-126903)4
    8541141  NP_014599.11  8512184 
     NP_009387.14 
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons ATNTH11 endonuclease III 54.48(n)
    53.3(a)    		   817703  NM_001084519.1  NP_001077988.1 
    rice
    (Oryza sativa)    		 Liliopsida --
    		 endonuclease III-like protein 1, putative, express...
    		 35(a)
    		 1 ↔ 1
    		 11(9182268-9187581)


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

    Paralogs
    for NTHL1 gene

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

    Genomic Variants
    for NTHL1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/219 NCBI SNPs in NTHL1 are shown (see all 219)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 16 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs455170921,2
    		C,untested3224993(+) TGTGTC/GTTTGC 3 -- int10--------
    rs22335191,2
    		C,F,H--2020327(-) CTACCC/TGGTGG 3 -- us2k15Minor allele frequency- T:0.00NS EA EU 973
    rs32119671,2
    		H--2020885(-) AGTATA/CGAAGA 3 -- us2k13Minor allele frequency- C:0.00NS 376
    rs32119661,2
    		C,F,--2021186(-) atctcA/Ggctca 3 -- us2k11Minor allele frequency- G:0.04NS 148
    rs30874691,2
    		C,F,H--2022053(-) GGAGCC/TGGAGC 3 -- us2k1 ese38Minor allele frequency- T:0.01NA NS EA 738
    rs32119621,2
    		C,H,--2023230(-) TCTGAA/GTAGTA 3 -- int1 tfbs33Minor allele frequency- G:0.00NS 372
    rs118609551,2
    		C,F,A,H,--2023691(+) GTCACA/GCATGC 3 -- int16Minor allele frequency- G:0.13NS NA WA 626
    rs1489454281,2
    		--2089351(+) CCCTGC/TGACCT 6 -- ds50010--------
    rs1931829721,2
    		--2089457(+) ACCCTC/GGCAGA 6 -- ds50010--------
    rs1431415371,2
    		--2089527(+) GGGGCC/TGGCGG 6 -- ds50010--------

    HapMap Linkage Disequilibrium report for NTHL1 (2089816 - 2097867 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for NTHL1
         2 CNVs: 30000 5329
    Human Gene Mutation Database (HGMD): NTHL1

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing NTHL1
    DNA2.0 Custom Variant and Variant Library Synthesis for NTHL1

    Disorders / Diseases
    for NTHL1 gene

    (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.)
    About This Section
    NTHL1 for disorders           About GeneDecksing

    OMIM gene information: 602656    OMIM disorders: --

    16 diseases for NTHL1:    About MalaCards
    graft versus host disease    sclerosing cholangitis    primary sclerosing cholangitis    tuberous sclerosis
    cholangitis    chronic lymphocytic leukemia    lymphocytic leukemia    multiple sclerosis
    gastric cancer    colorectal cancer    leukemia    adenoma
    pneumonia    tuberculosis    malaria    mycobacterium tuberculosis

    2 Novoseek 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)

    Human Genome Epidemiology (HuGE) Navigator: NTHL1 (8 documents)

    Export disorders for NTHL1 gene to outside databases

    Publications
    for NTHL1 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 NTHL1 gene, integrated from 9 sources (see all 65):
    (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. (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. (1997)
    3. 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. (1998)
    4. The sequence and analysis of duplication-rich human chromosome 16. (PubMed id 15616553)1, 2 Martin J.... Pennacchio L.A. (2004)
    5. 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)
    6. Differential intracellular localization of the human and mouse endonuclease III homologs and analysis of the sorting signals. (PubMed id 12531031)1, 2 Ikeda S.... Seki Y. (2002)
    7. Cell-cycle regulation, intracellular sorting and induced overexpression of the human NTH1 DNA glycosylase involved in removal of formamidopyrimidine residues from DNA. (PubMed id 10882850)1, 2 Luna L.... Seeberg E. (2000)
    8. Purification and characterization of human NTH1, a homolog of Escherichia coli endonuclease III. Direct identification of Lys-212 as the active nucleophilic residue. (PubMed id 9705289)1, 2 Ikeda S.... Mitra S. (1998)
    9. Altered expression of the human base excision repair gene NTH1 in gastric cancer. (PubMed id 19414504)1, 9 Goto M....Sugimura H. (2009)
    10. 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, 9 Dallosso A.R....Sampson J.R. (2008)

    External Searches for NTHL1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
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    Genome Databases showing NTHL1 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 4913 HGNC: 8028 AceView: NTHL1 Ensembl:ENSG00000065057 euGenes: HUgn4913
    ECgene: NTHL1 Kegg: 4913 H-InvDB: NTHL1

    Other Databases showing NTHL1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing NTHL1 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 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/

    Intellectual Property
    for NTHL1 gene

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