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

NEIL1 Gene

protein-coding   GIFtS: 59
GCID: GC15P075639

Nei Endonuclease VIII-Like 1 (E. Coli)

Microbiology & Infectious Diseases Congress
  See 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)
About This Section

Aliases
Nei Endonuclease VIII-Like 1 (E. Coli)1 2     DNA-(Apurinic Or Apyrimidinic Site) Lyase Neil12 3
Endonuclease VIII-Like 12 3     NEI12
Nei Homolog 12 3     Endonuclease 8-Like 12
Nei-Like Protein 12 3     Endonuclease VIII2
FPG12 3     hFPG12
NEH12 3     EC 3.2.2.-3
DNA Glycosylase/AP Lyase Neil12 3     EC 4.2.99.183

External Ids:    HGNC: 184481   Entrez Gene: 796612   Ensembl: ENSG000001403987   OMIM: 6088445   UniProtKB: Q96FI43   

Export aliases for NEIL1 gene to outside databases

Previous GC identifers: GC15P071517 GC15P068730 GC15P073215 GC15P073355 GC15P073426 GC15P052397


(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 NEIL1 Gene:
This gene is a member of the Nei endonuclease VIII-like gene family which encodes DNA glycosylases. The encoded
enzyme participates in the DNA repair pathway by initiating base excision repair by removing damaged bases,
primarily oxidized pyrimidines. Multiple transcript variants encoding different isoforms have been found for this
gene. (provided by RefSeq, Feb 2012)

GeneCards Summary for NEIL1 Gene: 
NEIL1 (nei endonuclease VIII-like 1 (E. coli)) is a protein-coding gene. Diseases associated with NEIL1 include steroid-resistant nephrotic syndrome, and familial colorectal cancer, and among its related super-pathways are Resolution of Abasic Sites (AP sites). GO annotations related to this gene include protein C-terminus binding and DNA-(apurinic or apyrimidinic site) lyase activity.

UniProtKB/Swiss-Prot: NEIL1_HUMAN, Q96FI4
Function: Involved in base excision repair of DNA damaged by oxidation or by mutagenic agents. Acts as DNA
glycosylase that recognizes and removes damaged bases. Has a preference for oxidized pyrimidines, such as thymine
glycol, formamidopyrimidine (Fapy) and 5-hydroxyuracil. Has marginal activity towards 8-oxoguanine. Has AP
(apurinic/apyrimidinic) lyase activity and introduces nicks in the DNA strand. Cleaves the DNA backbone by
beta-delta elimination to generate a single-strand break at the site of the removed base with both 3'- and
5'-phosphates. Has DNA glycosylase/lyase activity towards mismatched uracil and thymine, in particular in U:C and
T:C mismatches

Gene Wiki entry for NEIL1 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_000015.9  NT_010194.17  NC_018926.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the NEIL1 gene promoter:
         c-Fos   USF1   AP-1   NRSF form 1   NRSF form 2   YY1   FOXO4   USF-1   HSF1short   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): NEIL1 promoter sequence
   Search SABiosciences Chromatin IP Primers for NEIL1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NEIL1


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

Entrez Gene cytogenetic band: 15q24.2   Ensembl cytogenetic band:  15q24.2   HGNC cytogenetic band: 15q33.33

NEIL1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NEIL1 gene location

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15P075639:  view genomic region     (about GC identifiers)

Start:
75,639,296 bp from pter      End:
75,647,592 bp from pter
Size:
8,297 bases      Orientation:
plus strand

(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: NEIL1_HUMAN, Q96FI4 (See protein sequence)
Recommended Name: Endonuclease 8-like 1  
Size: 390 amino acids; 43684 Da
Subcellular location: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Nucleus. Chromosome.
Note=During mitosis, associates with centrosomes and condensed chromatin
Rna editing: Modified_positions=242; Note=The edited form removes thymine glycol from duplex DNA 30 times more
slowly than the form encoded in the genome, whereas editing enhances repair of the guanidinohydantoin lesion by
NEIL1. The recoding site is a preferred editing site for the RNA editing adenosine deaminase ADAR1
Sequence caution: Sequence=AK128372; Type=Miscellaneous discrepancy; Note=Erroneous CDS prediction;
1 PDB 3D structure from and Proteopedia for NEIL1:
1TDH (3D)    
Secondary accessions: D3DW75 Q6ZRA7 Q86XW7 Q9H6C3

Explore the universe of human proteins at neXtProt for NEIL1: NX_Q96FI4

Explore proteomics data for NEIL1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q96FI4

  • NEIL1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    NEIL1 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001243481.1  NP_078884.2  

    ENSEMBL proteins: 
     ENSP00000456466   ENSP00000347170   ENSP00000457541   ENSP00000457081   ENSP00000455745  
     ENSP00000454729   ENSP00000456945   ENSP00000455949   ENSP00000457352   ENSP00000455730  
     ENSP00000457056   ENSP00000456852   ENSP00000454292   ENSP00000457371  

    Human Recombinant Protein Products for NEIL1: 
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    OriGene Protein Over-expression Lysate for NEIL1
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    Novus Biologicals NEIL1 Proteins
    Novus Biologicals NEIL1 Lysates
    Sino Biological Recombinant Protein for NEIL1
    Browse Sino Biological Cell Lysates 
    ProSpec Recombinant Protein for NEIL1
    Cloud-Clone Corp. Proteins for NEIL1 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA17611195
    GO:0005694chromosome IEA--
    GO:0005737cytoplasm IDA17611195
    GO:0005815microtubule organizing center IEA--

    NEIL1 for ontologies           About GeneDecksing



    NEIL1 Antibody Products: 
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    Abcam antibodies for NEIL1
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    ThermoFisher Antibodies for NEIL1
    LSBio Antibodies in human, mouse, rat for NEIL1 

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    Cloud-Clone Corp. ELISAs for NEIL1 
    Cloud-Clone Corp. CLIAs for NEIL1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    4 InterPro protein domains:
     IPR010979 Ribosomal_S13-like_H2TH
     IPR012319 DNA_glycosylase/AP_lyase_cat
     IPR015371 Endonuclease-VIII_DNA-bd
     IPR015886 DNA_glyclase/AP_lyase_DNA-bd

    Graphical View of Domain Structure for InterPro Entry Q96FI4

    ProtoNet protein and cluster: Q96FI4

    UniProtKB/Swiss-Prot: NEIL1_HUMAN, Q96FI4
    Similarity: Belongs to the FPG family


    NEIL1 for domains           About GeneDecksing


    (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: NEIL1_HUMAN, Q96FI4
    Function: Involved in base excision repair of DNA damaged by oxidation or by mutagenic agents. Acts as DNA
    glycosylase that recognizes and removes damaged bases. Has a preference for oxidized pyrimidines, such as thymine
    glycol, formamidopyrimidine (Fapy) and 5-hydroxyuracil. Has marginal activity towards 8-oxoguanine. Has AP
    (apurinic/apyrimidinic) lyase activity and introduces nicks in the DNA strand. Cleaves the DNA backbone by
    beta-delta elimination to generate a single-strand break at the site of the removed base with both 3'- and
    5'-phosphates. Has DNA glycosylase/lyase activity towards mismatched uracil and thymine, in particular in U:C and
    T:C mismatches
    Catalytic activity: Removes damaged bases from DNA, leaving an abasic site
    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
    Induction: Up-regulated during S-phase

         Enzyme Numbers (IUBMB): EC 4.2.99.181 EC 3.2.2.-1

         Gene Ontology (GO): 5/9 molecular function terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003676nucleic acid binding ----
    GO:0003684damaged DNA binding IEA--
    GO:0003906DNA-(apurinic or apyrimidinic site) lyase activity IEA--
    GO:0008022protein C-terminus binding IPI17611195
    GO:0008270zinc ion binding IEA--
         
    NEIL1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for NEIL1:
     Decreased circadian period len 

         12 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Neil1):
     adipose tissue  growth/size  homeostasis/metabolism  immune system  integument 
     liver/biliary system  no phenotypic analysis  other  renal/urinary system  reproductive system 
     skeleton  tumorigenesis 

    NEIL1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for NEIL1: Neil1tm1Rsld Neil1tm1Bjor

       inGenious Targeting Laboratory - Custom generated mouse model solutions for NEIL1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for NEIL1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for NEIL1 
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    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NEIL1


    (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

    SuperPaths for NEIL1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Resolution of Abasic Sites (AP sites)
    Base excision repair0.53

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways




    1         Kegg Pathway  (Kegg details for NEIL1):
        Base excision repair


    NEIL1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for NEIL1

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    4 Interacting proteins for NEIL1 (Q96FI43 ENSP000003471704) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    LIG3P499163, ENSP000003677874I2D: score=2 STRING: ENSP00000367787
    POLBP067463, ENSP000002654214I2D: score=2 STRING: ENSP00000265421
    XRCC1P188873, ENSP000002628874I2D: score=3 STRING: ENSP00000262887
    MYCENSP000003672074STRING: ENSP00000367207
    About this table

    Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006281DNA repair ----
    GO:0006284base-excision repair IDA17611195
    GO:0006289nucleotide-excision repair IEA--
    GO:0006979response to oxidative stress IDA17611195
    GO:0009451RNA modification IEA--

    NEIL1 for ontologies           About GeneDecksing



    (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

    NEIL1 for compounds           About GeneDecksing

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

    Browse Tocris compounds for NEIL1

    1 DrugBank Compound for NEIL1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Tris(Hydroxymethyl)Aminomethane-- --target----

    10/12 Novoseek inferred chemical compound relationships for NEIL1 gene (see all 12)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    2,6-diamino-4-hydroxy-5-formamidopyrimidine 90.5 1 15595846 (1)
    fapy 90.1 3 8734295 (1), 15595846 (1), 19496823 (1)
    5-hydroxyuracil 89.9 3 18662981 (1), 18032376 (1), 14522990 (1)
    dihydrouracil 88.5 8 15907775 (4)
    thymine glycol 88.4 1 15319300 (1)
    8-oxoguanine 83.4 2 15350146 (1), 14522990 (1)
    polynucleotide 60 1 16982218 (1)
    phosphonate 56.7 3 16982218 (1), 15260972 (1), 17715144 (1)
    cytosine 53.4 1 14522990 (1)
    oxygen 26.1 5 16118226 (2), 17611195 (1), 17389588 (1)

    Search CenterWatch for drugs/clinical trials and news about NEIL1

    (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 NEIL1 gene (2 alternative transcripts): 
    NM_001256552.1  NM_024608.3  

    Unigene Cluster for NEIL1:

    Nei endonuclease VIII-like 1 (E. coli)
    Hs.512732  [show with all ESTs]
    Unigene Representative Sequence: AK097008
    18/24 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 24):
    ENST00000564500 ENST00000355059(uc002bad.3) ENST00000566752 ENST00000566313
    ENST00000568059 ENST00000568881 ENST00000561643 ENST00000567959 ENST00000564951
    ENST00000568519 ENST00000569390 ENST00000567657 ENST00000564784 ENST00000569035(uc002bae.3)
    ENST00000567681 ENST00000565051 ENST00000564257 ENST00000567005
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    Search QIAGEN for miScript miRNA Assays for microRNAs that regulate NEIL1
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    Inhib. RNA
    Products:
         
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat NEIL1

    Additional mRNA sequence: 

    AB079068.1 AK026055.1 AK026216.1 AK097008.1 BC010876.1 NR_046311.1 

    23 DOTS entries:

    DT.214283  DT.75186708  DT.101984918  DT.100780758  DT.87017892  DT.97858864  DT.95310279  DT.100780754 
    DT.121052819  DT.40195464  DT.40222964  DT.121052741  DT.121052678  DT.95169184  DT.100834116  DT.121052950 
    DT.91758164  DT.91758166  DT.97775012  DT.100670599  DT.100682869  DT.91818435  DT.95169179 

    24/122 AceView cDNA sequences (see all 122):

    AI816095 AK097008 AW439765 AI373305 AI290102 AI393566 AA731925 BI908874 
    BQ028738 AI913135 AW444910 CD722353 BI916872 BQ028756 AI638424 AA830735 
    AW575225 AI816136 W80730 AI925612 AA370630 CA442550 BM678088 CA944521 

    GeneLoc Exon Structure

    5/16 Alternative Splicing Database (ASD) splice patterns (SP) for NEIL1 (see all 16)    About this scheme

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

    ExUns: 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12a · 12b ^ 13a · 13b ^ 14 ^ 15 ^ 16
    SP1:  -     -                             -                 -                     
    SP2:  -     -                             -                 -                     
    SP3:                                                                              
    SP4:                                                                              
    SP5:  -     -                                                                     


    ECgene alternative splicing isoforms for NEIL1

    (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

    NEIL1 expression in normal human tissues (normalized intensities)      NEIL1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGAAAAATGC
    NEIL1 Expression
    About this image


    NEIL1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/3 selected tissues (see all 3) fully expand
     
     Thymus (Hematopoietic System)
             Double Positive Thymocytes Thymus
     
     Blood (Cardiovascular System)
             Double Positive Thymocytes Thymus
     
     Lymph (Hematopoietic System)
             LYMPH NODE   

    See NEIL1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for NEIL1

    SOURCE GeneReport for Unigene cluster: Hs.512732

    UniProtKB/Swiss-Prot: NEIL1_HUMAN, Q96FI4
    Tissue specificity: Ubiquitous

        SABiosciences Expression via Pathway-Focused PCR Array including NEIL1: 
              DNA Repair in human mouse rat

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

    This gene was present in the common ancestor of chordates.

    Orthologs for NEIL1 gene from 4/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Neil11 , 5 nei endonuclease VIII-like 1 (E. coli)1, 5 81.49(n)1
    79.69(a)1
      9 (30.89 cM)5
    727741  NM_028347.21  NP_082623.11 
     571432565 
    chicken
    (Gallus gallus)
    Aves NEIL11 nei endonuclease VIII-like 1 (E. coli) 64.53(n)
    58.72(a)
      770068  NM_001080876.1  NP_001074345.1 
    African clawed frog
    (Xenopus laevis)
    Amphibia BJ054799.12   -- 71.8(n)    BJ054799.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc563612 similar to nei endonuclease VIII-like 1 (E. coli) 73.38(n)   393253  AY398387.1 


    ENSEMBL Gene Tree for NEIL1 (if available)
    TreeFam Gene Tree for NEIL1 (if available)

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

    (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

    10/184 SNPs in NEIL1 are shown (see all 184)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0659644
    ----see VAR_0659642 E K mis40--------
    VAR_0659634
    ----see VAR_0659632 R Q mis40--------
    VAR_0205844
    ----see VAR_0205842 D N mis40--------
    VAR_0650184
    ----see VAR_0650182 K R mis40--------
    rs1456978941,2
    --75637383(+) CAATGC/TGTGTT 1 -- us2k10--------
    rs74028441,2
    C,F,A--75637396(+) ctcttG/Cattgg 1 -- us2k112Minor allele frequency- C:0.39NA WA CSA EA 375
    rs1807102791,2
    --75637478(+) TTATAC/TCTTTA 1 -- us2k10--------
    rs745511361,2
    C--75637499(+) AGAACA/TACAAA 1 -- us2k10--------
    rs1859663381,2
    --75637671(+) CAGAGC/TAGTGG 1 -- us2k10--------
    rs1394482341,2
    --75637786(+) ACCCCA/GTCTCT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for NEIL1 (75639296 - 75647592 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for NEIL1:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2749894CNV Deletion23290073
    nsv1615CNV Insertion18451855


    Human Gene Mutation Database (HGMD): NEIL1
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    (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: 608844    OMIM disorders: --

    18 diseases for NEIL1:    About MalaCards
    steroid-resistant nephrotic syndrome    familial colorectal cancer    sclerosing cholangitis    primary sclerosing cholangitis
    cholangitis    nephrotic syndrome    gigantism    werner syndrome
    colorectal cancer    renal cell carcinoma    multiple sclerosis    hypoxia
    tuberculosis    adenoma    gastric cancer    lung cancer
    squamous cell carcinoma    breast cancer


    NEIL1 for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for NEIL1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cancer 0 3 19443904 (2), 18594018 (1)

    Genetic Association Database (GAD): NEIL1
    Human Genome Epidemiology (HuGE) Navigator: NEIL1 (9 documents)

    Export disorders for NEIL1 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)
    About This Section

    PubMed articles for NEIL1 gene, integrated from 9 sources (see all 88):
    (articles sorted by number of sources associating them with NEIL1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification and characterization of a human DNA glycosylase for repair of modified bases in oxidatively damaged DNA. (PubMed id 11904416)1, 2, 3, 9 Hazra T.K.... Mitra S. (2002)
    2. The crystal structure of human endonuclease VIII-like 1 (NEIL1) reveals a zincless finger motif required for glycosylase activity. (PubMed id 15232006)1, 2, 9 Doublie S.... Wallace S.S. (2004)
    3. Functional variants of the NEIL1 and NEIL2 genes and risk and progression of squamous cell carcinoma of the oral cavity and oropharynx. (PubMed id 18594018)1, 4, 9 Zhai X....Wei Q. (2008)
    4. 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. (2008)
    5. Catalytically impaired hMYH and NEIL1 mutant proteins identified in patients with primary sclerosing cholangitis and cholangiocarcin oma. (PubMed id 19443904)1, 4, 9 Forsbring M....Alseth I. (2009)
    6. OGG1 expression and OGG1 Ser326Cys polymorphism and risk of lung cancer in a prospective study. (PubMed id 18155253)1, 4, 9 Hatt L....Vogel U. (2008)
    7. Repair of oxidized bases in DNA bubble structures by human DNA glycosylases NEIL1 and NEIL2. (PubMed id 14522990)1, 2, 9 Dou H.... Hazra T.K. (2003)
    8. A novel human DNA glycosylase that removes oxidative DNA damage and is homologous to Escherichia coli endonuclease VIII. (PubMed id 12509226)1, 2, 9 Bandaru V.... Bond J.P. (2002)
    9. Exome sequencing identified MYO1E and NEIL1 as candidate genes for human autosomal recessive steroid-resistant nephrotic syndrome. (PubMed id 21697813)1, 2 Sanna-Cherchi S.... Gharavi A.G. (2011)
    10. Variation within DNA repair pathway genes and risk of multiple sclerosis. (PubMed id 20522537)1, 4 Briggs F.B....Barcellos L.F. (2010)

    (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)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 79661 HGNC: 18448 AceView: NEIL1 Ensembl:ENSG00000140398 euGenes: HUgn79661
    ECgene: NEIL1 Kegg: 79661 H-InvDB: NEIL1

    (According to HUGE)
    About This Section
      --

    (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 NEIL1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for NEIL1 Genetics and Cytogenetics in Oncology and Haematology
    NIEHS-SNPshttp://egp.gs.washington.edu/data/neil1/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for NEIL1 gene:
    Search GeneIP for patents involving NEIL1

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



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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