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] See more...

Aliases for NEIL1 Gene

Aliases for NEIL1 Gene

  • Nei Like DNA Glycosylase 1 2 3 5
  • DNA-(Apurinic Or Apyrimidinic Site) Lyase Neil1 3 4
  • DNA Endonuclease Eight-Like Glycosylase 1 2 3
  • DNA Glycosylase/AP Lyase Neil1 3 4
  • Endonuclease VIII-Like 1 3 4
  • Endonuclease 8-Like 1 3 4
  • Nei-Like Protein 1 3 4
  • Nei Homolog 1 3 4
  • FPG1 3 4
  • NEH1 3 4
  • Nei Endonuclease VIII-Like 1 (E. Coli) 2
  • Nei Endonuclease VIII-Like 1 3
  • Endonuclease VIII 3
  • EC 4.2.99.18 4
  • EC 3.2.2.- 4
  • HFPG1 3
  • NEI1 3

External Ids for NEIL1 Gene

Previous GeneCards Identifiers for NEIL1 Gene

  • GC15P071517
  • GC15P068730
  • GC15P073215
  • GC15P073355
  • GC15P073426
  • GC15P075639
  • GC15P052397

Summaries for NEIL1 Gene

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 Like DNA Glycosylase 1) is a Protein Coding gene. Diseases associated with NEIL1 include Cockayne Syndrome and Spinocerebellar Ataxia Type 1 With Axonal Neuropathy. Among its related pathways are Telomere C-strand (Lagging Strand) Synthesis and Cleavage of the damaged pyrimidine. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and damaged DNA binding. An important paralog of this gene is NEIL3.

UniProtKB/Swiss-Prot Summary for NEIL1 Gene

  • 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. Specifically binds 5-hydroxymethylcytosine (5hmC), suggesting that it acts as a specific reader of 5hmC.

Gene Wiki entry for NEIL1 Gene

Additional gene information for NEIL1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NEIL1 Gene

Genomics for NEIL1 Gene

GeneHancer (GH) Regulatory Elements for NEIL1 Gene

Promoters and enhancers for NEIL1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NEIL1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NEIL1

Top Transcription factor binding sites by QIAGEN in the NEIL1 gene promoter:
  • AP-1
  • c-Fos
  • c-Jun
  • FOXO4
  • HSF1short
  • NRSF form 1
  • NRSF form 2
  • USF-1
  • USF1
  • YY1

Genomic Locations for NEIL1 Gene

Genomic Locations for NEIL1 Gene
chr15:75,346,649-75,357,115
(GRCh38/hg38)
Size:
10,467 bases
Orientation:
Plus strand
chr15:75,639,296-75,647,592
(GRCh37/hg19)
Size:
8,297 bases
Orientation:
Plus strand

Genomic View for NEIL1 Gene

Genes around NEIL1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NEIL1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NEIL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NEIL1 Gene

Proteins for NEIL1 Gene

  • Protein details for NEIL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96FI4-NEIL1_HUMAN
    Recommended name:
    Endonuclease 8-like 1
    Protein Accession:
    Q96FI4
    Secondary Accessions:
    • D3DW75
    • Q6ZRA7
    • Q86XW7
    • Q9H6C3

    Protein attributes for NEIL1 Gene

    Size:
    390 amino acids
    Molecular mass:
    43684 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AK128372; Type=Miscellaneous discrepancy; Note=Erroneous CDS prediction.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for NEIL1 Gene

neXtProt entry for NEIL1 Gene

Post-translational modifications for NEIL1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for NEIL1 Gene

Domains & Families for NEIL1 Gene

Gene Families for NEIL1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Plasma proteins
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for NEIL1 Gene

GenScript: Design optimal peptide antigens:
  • Nei-like protein 1 (NEIL1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q96FI4

UniProtKB/Swiss-Prot:

NEIL1_HUMAN :
  • Belongs to the FPG family.
Family:
  • Belongs to the FPG family.
genes like me logo Genes that share domains with NEIL1: view

Function for NEIL1 Gene

Molecular function for NEIL1 Gene

UniProtKB/Swiss-Prot 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. Specifically binds 5-hydroxymethylcytosine (5hmC), suggesting that it acts as a specific reader of 5hmC.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=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.; EC=4.2.99.18; Evidence=. ;.
UniProtKB/Swiss-Prot Induction:
Up-regulated during S-phase.

Enzyme Numbers (IUBMB) for NEIL1 Gene

Phenotypes From GWAS Catalog for NEIL1 Gene

Gene Ontology (GO) - Molecular Function for NEIL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0003684 damaged DNA binding IEA --
GO:0003824 catalytic activity IEA --
GO:0003906 DNA-(apurinic or apyrimidinic site) endonuclease activity IEA,TAS --
GO:0008022 protein C-terminus binding IPI 17611195
genes like me logo Genes that share ontologies with NEIL1: view
genes like me logo Genes that share phenotypes with NEIL1: view

Animal Models for NEIL1 Gene

MGI Knock Outs for NEIL1:

Animal Model Products

CRISPR Products

miRNA for NEIL1 Gene

miRTarBase miRNAs that target NEIL1

Clone Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for NEIL1 Gene

Localization for NEIL1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NEIL1 Gene

Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Nucleus. Chromosome. Note=During mitosis, associates with centrosomes and condensed chromatin.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NEIL1 gene
Compartment Confidence
nucleus 5
cytoskeleton 4
mitochondrion 2
cytosol 2
plasma membrane 1
extracellular 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for NEIL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA,IDA 17611195
GO:0005654 nucleoplasm TAS --
GO:0005694 chromosome IEA --
GO:0005737 cytoplasm IEA,IDA 17611195
GO:0005815 microtubule organizing center IEA --
genes like me logo Genes that share ontologies with NEIL1: view

Pathways & Interactions for NEIL1 Gene

genes like me logo Genes that share pathways with NEIL1: view

SIGNOR curated interactions for NEIL1 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for NEIL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006281 DNA repair IEA --
GO:0006284 base-excision repair IEA,IDA 17611195
GO:0006289 nucleotide-excision repair IEA --
GO:0006974 cellular response to DNA damage stimulus IEA --
GO:0006979 response to oxidative stress IDA 17611195
genes like me logo Genes that share ontologies with NEIL1: view

Drugs & Compounds for NEIL1 Gene

(10) Drugs for NEIL1 Gene - From: DrugBank and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Copper Approved, Investigational Pharma Target 236
Ferrous ascorbate Approved Pharma Target 0
Ferrous fumarate Approved Pharma Target 92
Ferrous gluconate Approved Pharma Target 10
Ferrous glycine sulfate Approved Pharma Target 0

(10) Additional Compounds for NEIL1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with NEIL1: view

Transcripts for NEIL1 Gene

mRNA/cDNA for NEIL1 Gene

4 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
24 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for NEIL1 Gene

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: - - - - - - - - - - -
SP6: - - -
SP7:
SP8: - - - - - - - - - - -
SP9: - - - - - - - - - - - -
SP10: - - - - - - - - -
SP11: - - - - - - - - - - -
SP12: - - -
SP13:
SP14: -
SP15: - - - -
SP16:

ExUns: 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12a · 12b ^ 13a · 13b ^ 14 ^ 15 ^ 16
SP1: - - - -
SP2: - - - -
SP3:
SP4:
SP5: - -
SP6: - - -
SP7:
SP8:
SP9:
SP10:
SP11:
SP12: -
SP13: - -
SP14:
SP15:
SP16:

Relevant External Links for NEIL1 Gene

GeneLoc Exon Structure for
NEIL1

Expression for NEIL1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NEIL1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for NEIL1 Gene

This gene is overexpressed in Plasma (22.9), Blymphocyte (21.9), NK cells (11.1), and Heart (8.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for NEIL1 Gene



Protein tissue co-expression partners for NEIL1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NEIL1

SOURCE GeneReport for Unigene cluster for NEIL1 Gene:

Hs.512732

mRNA Expression by UniProt/SwissProt for NEIL1 Gene:

Q96FI4-NEIL1_HUMAN
Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for NEIL1 Gene

  • Lung(4.3)
genes like me logo Genes that share expression patterns with NEIL1: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for NEIL1 Gene

Orthologs for NEIL1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for NEIL1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NEIL1 31 30
  • 99.44 (n)
OneToOne
cow
(Bos Taurus)
Mammalia NEIL1 31 30
  • 87.18 (n)
OneToOne
dog
(Canis familiaris)
Mammalia NEIL1 31 30
  • 83.03 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Neil1 17 31 30
  • 81.49 (n)
rat
(Rattus norvegicus)
Mammalia Neil1 30
  • 81.14 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia NEIL1 31
  • 72 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia NEIL1 31
  • 67 (a)
OneToOne
chicken
(Gallus gallus)
Aves NEIL1 31 30
  • 63.93 (n)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia neil1 30
  • 61.75 (n)
Str.3112 30
zebrafish
(Danio rerio)
Actinopterygii neil1 31 30
  • 60.63 (n)
OneToOne
zgc56361 30
Species where no ortholog for NEIL1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for NEIL1 Gene

ENSEMBL:
Gene Tree for NEIL1 (if available)
TreeFam:
Gene Tree for NEIL1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for NEIL1: view image

Paralogs for NEIL1 Gene

Paralogs for NEIL1 Gene

genes like me logo Genes that share paralogs with NEIL1: view

Variants for NEIL1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NEIL1 Gene

SNP ID Clinical significance and condition Chr 15 pos Variation AA Info Type
725847 Benign: not provided 75,352,222(+) C/G MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
771476 Benign: not provided 75,349,051(+) C/G MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR_VARIANT,INTRON_VARIANT
779899 Benign: not provided 75,353,774(+) G/A MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
782887 Benign: not provided 75,349,108(+) C/A MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR_VARIANT,INTRON_VARIANT
790285 Benign: not provided 75,349,341(+) T/C SPLICE_DONOR_VARIANT

Additional dbSNP identifiers (rs#s) for NEIL1 Gene

Structural Variations from Database of Genomic Variants (DGV) for NEIL1 Gene

Variant ID Type Subtype PubMed ID
dgv2621n100 CNV gain 25217958
esv2749894 CNV deletion 23290073
nsv1116463 OTHER inversion 24896259
nsv1615 CNV insertion 18451855
nsv951996 CNV deletion 24416366

Variation tolerance for NEIL1 Gene

Residual Variation Intolerance Score: 56.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.73; 46.65% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NEIL1 Gene

Human Gene Mutation Database (HGMD)
NEIL1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NEIL1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NEIL1 Gene

Disorders for NEIL1 Gene

MalaCards: The human disease database

(5) MalaCards diseases for NEIL1 Gene - From: DISEASES and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search NEIL1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for NEIL1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with NEIL1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NEIL1 Gene

Publications for NEIL1 Gene

  1. Identification and characterization of a human DNA glycosylase for repair of modified bases in oxidatively damaged DNA. (PMID: 11904416) Hazra TK … Mitra S (Proceedings of the National Academy of Sciences of the United States of America 2002) 2 3 4 23 54
  2. Catalytically impaired hMYH and NEIL1 mutant proteins identified in patients with primary sclerosing cholangitis and cholangiocarcinoma. (PMID: 19443904) Forsbring M … Alseth I (Carcinogenesis 2009) 3 23 41 54
  3. Inherited predisposition to colorectal adenomas caused by multiple rare alleles of MUTYH but not OGG1, NUDT1, NTH1 or NEIL 1, 2 or 3. (PMID: 18515411) Dallosso AR … Sampson JR (Gut 2008) 3 23 41 54
  4. OGG1 expression and OGG1 Ser326Cys polymorphism and risk of lung cancer in a prospective study. (PMID: 18155253) Hatt L … Vogel U (Mutation research 2008) 3 23 41 54
  5. Functional variants of the NEIL1 and NEIL2 genes and risk and progression of squamous cell carcinoma of the oral cavity and oropharynx. (PMID: 18594018) Zhai X … Wei Q (Clinical cancer research : an official journal of the American Association for Cancer Research 2008) 3 23 41 54

Products for NEIL1 Gene