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NEIL1 (nei like DNA glycosylase 1)
Gene
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
79661
Gene nameGene Name - the full gene name approved by the HGNC.
Nei like DNA glycosylase 1
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
NEIL1
SynonymsGene synonyms aliases
FPG1, NEI1, hFPG1
ChromosomeChromosome number
15
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
15q24.2
SummarySummary of gene provided in NCBI Entrez 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. Mul
SNPsSNP information provided by dbSNP.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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
miRNAmiRNA information provided by mirtarbase database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Transcription factor Regulation Reference
JUN Activation 16118226
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
GO ID Ontology Definition Evidence Reference
GO:0003684 Function Damaged DNA binding IEA
GO:0003906 Function DNA-(apurinic or apyrimidinic site) endonuclease activity IBA 21873635
GO:0003906 Function DNA-(apurinic or apyrimidinic site) endonuclease activity TAS
GO:0005634 Component Nucleus IBA 21873635
GO:0005634 Component Nucleus IDA 17611195
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM
HGNC
e!Ensembl
Protein
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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
Sequence 
MPEGPELHLASQFVNEACRALVFGGCVEKSSVSRNPEVPFESSAYRISASARGKELRLIL
SPLPGAQPQQEPLALVFRFGMSGSFQLVPREELPRHAHLRFYTAPPGPRLALCFVDIRRF
GRWDLGGKWQPGRGPCVLQEYQQFRENVLRNLADKAFDRPICEALLDQRFFNGIGNYLRA
EILYRLKIPPFEKARSVLEALQQHRPSPELTLSQKIRTKLQNPDLLELCHSVPKEVVQLG
GKGYGSESGEEDFAAFRAWLRCYGMPGMSSLQDRHGRTIWFQGDPGPLAPKGRKSRKKKS
KATQLSPEDRVEDALPPSKAPSRTRRAKRDLPKRTATQRPEGTSLQQDPEAPTVPKKGRR
KGRQAASGHCRPRKVKADIPSLEPEGTSAS
Sequence length 390
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
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
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Causal
Disease name Disease term dbSNP ID References
Hyperinsulinism Hyperinsulinism rs387906407, rs151344623, rs121913156, rs137853245, rs80356655, rs104894010, rs104894012, rs104894014, rs104894015, rs137852676, rs587783169, rs72559716, rs541269678, rs151344624, rs797045209, rs761749884, rs797045624, rs863225280, rs139964066, rs1057516281, rs1057516317, rs576684889, rs201682634, rs1350717554, rs768951263, rs1260178539, rs200670692, rs72559734, rs1400535021, rs372307320, rs1554923999, rs751279984, rs1008906426, rs367850779, rs1382448285, rs1564977373, rs750586210, rs1599937180 16446448
Hyperlipidemia Hyperlipidemia rs118204057, rs118204060, rs118204062, rs1563569634, rs118204069, rs118204070, rs118204071, rs3737787, rs2073658, rs1566946168, rs1064797075 21285402
Metabolic syndrome Metabolic Syndrome X rs367643250, rs587777380, rs777736953 16446448, 17389588
Obesity Obesity rs34911341, rs74315349, rs1474810899, rs2282440, rs2491132, rs121918111, rs796065034, rs753856820, rs796065035, rs121918112, rs104894023, rs137852821, rs1580764441, rs137852822, rs137852823, rs137852824, rs13447324, rs121913562, rs121913564, rs74315393, rs121913556, rs2989924, rs193922650, rs193922685, rs193922687, rs751160202, rs1421085, rs747681609, rs1553400259, rs13447339, rs370479598, rs1554394014, rs1553174844, rs756232889, rs369841551, rs1557670950, rs1571321748, rs148538980, rs1572820988, rs1591461970, rs1419374563, rs745921568, rs144159890, rs1570714352, rs779783209, rs1573250294, rs1573254045, rs1580744791, rs1580746829, rs6548238, rs7138803, rs7754840 16446448, 21285402
Unknown
Disease name Disease term dbSNP ID References
Compensatory hyperinsulinemia Compensatory Hyperinsulinemia 16446448
Dyslipidemias Dyslipidemias 16446448
Endogenous hyperinsulinism Endogenous Hyperinsulinism 16446448
Exogenous hyperinsulinism Exogenous Hyperinsulinism 16446448

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