NEIL1 (nei like DNA glycosylase 1)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 79661
Gene name Nei like DNA glycosylase 1
Gene symbol NEIL1
Synonyms (NCBI Gene)
FPG1NEI1hFPG1
Chromosome 15
Chromosome location 15q24.2
Summary 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. Mul
SNPs SNP information provided by dbSNP.
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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SNP ID Visualize variation Clinical significance Consequence
rs556576971 ->C Conflicting-interpretations-of-pathogenicity Intron variant, coding sequence variant, frameshift variant, 5 prime UTR variant, non coding transcript variant
miRNA miRNA information provided by mirtarbase database.
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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miRTarBase ID miRNA Experiments Reference
MIRT017116 hsa-miR-335-5p Microarray 18185580
MIRT1180020 hsa-miR-103a CLIP-seq
MIRT1180021 hsa-miR-105 CLIP-seq
MIRT1180022 hsa-miR-107 CLIP-seq
MIRT1180023 hsa-miR-23a CLIP-seq
Transcription factors Transcription factors information provided by TRRUST V2 database.
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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Transcription factor Regulation Reference
JUN Activation 16118226
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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GO ID Ontology Definition Evidence Reference
GO:0003676 Function Nucleic acid binding IEA
GO:0003677 Function DNA binding IEA
GO:0003684 Function Damaged DNA binding IEA
GO:0003824 Function Catalytic activity IEA
GO:0003906 Function DNA-(apurinic or apyrimidinic site) endonuclease activity IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
608844 18448 ENSG00000140398
Protein Protein information from UniProt database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96FI4
Protein name Endonuclease 8-like 1 (EC 3.2.2.-) (EC 4.2.99.18) (DNA glycosylase/AP lyase Neil1) (DNA-(apurinic or apyrimidinic site) lyase Neil1) (Endonuclease VIII-like 1) (FPG1) (Nei homolog 1) (NEH1) (Nei-like protein 1)
Protein function Involved in base excision repair of DNA damaged by oxidation or by mutagenic agents. Acts as a DNA glycosylase that recognizes and removes damaged bases. Has a preference for oxidized pyrimidines, such as thymine glycol, formamidopyrimidine (Fap
PDB 1TDH , 4NRV , 5ITQ , 5ITR , 5ITT , 5ITU , 5ITX , 5ITY , 6LWA , 6LWB , 6LWC , 6LWD , 6LWF , 6LWG , 6LWH , 6LWI , 6LWJ , 6LWK , 6LWL , 6LWM , 6LWN , 6LWO , 6LWP , 6LWQ , 6LWR , 7TMX , 8FTJ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01149 Fapy_DNA_glyco 1 → 123 Formamidopyrimidine-DNA glycosylase N-terminal domain Domain
PF09292 Neil1-DNA_bind 252 → 290 Endonuclease VIII-like 1, DNA bind Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitous. {ECO:0000269|PubMed:11904416}.
Sequence 
MPEGPELHLASQFVNEACRALVFGGCVEKSSVSRNPEVPFESSAYRISASARGKELRLIL
SPLPGAQPQQEPLALVFRFGMSGSFQLVPREELPRHAHLRFYTAPPGPRLALCFVDIRRF
GRWDLGGKWQPGRGPCVLQEYQQFRENVLRNLADKAFDRPICEALLDQRFFNGIGNYLRA
EILYRLKIPPFEKARSVLEALQQHRPSPELTLSQKIRTKLQNPDLLELCHSVPKEVVQLG
GKGYGSESGEEDFAAFRAWLRCYGMPGMSSLQDRHGRTIWFQGDPGPLAPKGRKSRKKKS
KATQLSPEDRVEDALPPSKAPSRTRRAKRDLPKRTATQRPEGTSLQQDPEAPTVPKKGRR
KGRQAASGHCRPRKVKADIPSLEPEGTSAS
Sequence length 390
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Base excision repair   Recognition and association of DNA glycosylase with site containing an affected pyrimidine
Cleavage of the damaged pyrimidine
APEX1-Independent Resolution of AP Sites via the Single Nucleotide Replacement Pathway
Defective Base Excision Repair Associated with NEIL1
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (21)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign; Likely benign rs5745908 RCV005910489
Adrenocortical carcinoma, hereditary Benign; Likely benign rs5745908 RCV005910493
Cervical cancer Benign; Likely benign rs5745908 RCV005910494
Cholangiocarcinoma Benign; Likely benign rs5745908 RCV005910505
Show/Hide Text Mining Associations (29)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Alzheimer Disease Associate 31415677
Bipolar Disorder Associate 29626765
Breast Neoplasms Associate 39199284
Carcinogenesis Associate 18594018, 19443904, 32198476
Carcinoma Hepatocellular Associate 31100703, 37517321
Cerebral Infarction Associate 27763529
Cholangiocarcinoma Associate 19443904
Cholangitis Sclerosing Associate 19443904
Colorectal Neoplasms Associate 28161934, 32312920, 32685496
Dengue Associate 35154111