NEIL1 nei like DNA glycosylase 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: NEIL1provided by HGNC
Official Full Name: nei like DNA glycosylase 1provided by HGNC
Primary source: HGNC:HGNC:18448
See related: Ensembl:ENSG00000140398 MIM:608844; AllianceGenome:HGNC:18448
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: FPG1; NEI1; hFPG1
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. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]
Expression: Ubiquitous expression in lymph node (RPKM 8.2), bone marrow (RPKM 5.5) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 15q24.2

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	15	NC_000015.10 (75347039..75357115)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	15	NC_060939.1 (73217100..73227189)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	15	NC_000015.9 (75639380..75649456)

Chromosome 15 - NC_000015.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Functional characterization of single nucleotide polymorphic variants of DNA repair enzyme NEIL1 in South Asian populations.
Title: Functional characterization of single nucleotide polymorphic variants of DNA repair enzyme NEIL1 in South Asian populations.
Functional analyses of single nucleotide polymorphic variants of the DNA glycosylase NEIL1 in sub-Saharan African populations.
Title: Functional analyses of single nucleotide polymorphic variants of the DNA glycosylase NEIL1 in sub-Saharan African populations.
NEIL1 Recoding due to RNA Editing Impacts Lesion-Specific Recognition and Excision.
Title: NEIL1 Recoding due to RNA Editing Impacts Lesion-Specific Recognition and Excision.
p53-NEIL1 co-abnormalities induce genomic instability and promote synthetic lethality with Chk1 inhibition in multiple myeloma having concomitant 17p13(del) and 1q21(gain).
Title: p53-NEIL1 co-abnormalities induce genomic instability and promote synthetic lethality with Chk1 inhibition in multiple myeloma having concomitant 17p13(del) and 1q21(gain).
Genetic variations in DNA repair gene NEIL1 associated with radiation pneumonitis risk in lung cancer patients.
Title: Genetic variations in DNA repair gene NEIL1 associated with radiation pneumonitis risk in lung cancer patients.
RNA Editing of the Human DNA Glycosylase NEIL1 Alters Its Removal of 5-Hydroxyuracil Lesions in DNA.
Title: RNA Editing of the Human DNA Glycosylase NEIL1 Alters Its Removal of 5-Hydroxyuracil Lesions in DNA.
DNA Sequence Modulates the Efficiency of NEIL1-Catalyzed Excision of the Aflatoxin B1-Induced Formamidopyrimidine Guanine Adduct.
Title: DNA Sequence Modulates the Efficiency of NEIL1-Catalyzed Excision of the Aflatoxin B(1)-Induced Formamidopyrimidine Guanine Adduct.
DNA repair glycosylase hNEIL1 triages damaged bases via competing interaction modes.
Title: DNA repair glycosylase hNEIL1 triages damaged bases via competing interaction modes.
NEIL1 and NEIL2 Are Recruited as Potential Backup for OGG1 upon OGG1 Depletion or Inhibition by TH5487.
Title: NEIL1 and NEIL2 Are Recruited as Potential Backup for OGG1 upon OGG1 Depletion or Inhibition by TH5487.
Nei Endonuclease VIII-Like1 (NEIL1) Inhibits Apoptosis of Human Colorectal Cancer Cells.
Title: Nei Endonuclease VIII-Like1 (NEIL1) Inhibits Apoptosis of Human Colorectal Cancer Cells.

Submit: New GeneRIF Correction See all GeneRIFs (88)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA N-glycosylase activity	IBA Inferred from Biological aspect of Ancestor more info
enables DNA N-glycosylase activity	TAS Traceable Author Statement more info
enables DNA-(apurinic or apyrimidinic site) endonuclease activity	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-(apurinic or apyrimidinic site) endonuclease activity	TAS Traceable Author Statement more info
enables class I DNA-(apurinic or apyrimidinic site) endonuclease activity	IEA Inferred from Electronic Annotation more info
enables damaged DNA binding	IEA Inferred from Electronic Annotation more info
enables hydrolase activity, acting on glycosyl bonds	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables zinc ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in base-excision repair	IBA Inferred from Biological aspect of Ancestor more info
involved_in base-excision repair	IDA Inferred from Direct Assay more info	PubMed
involved_in base-excision repair, gap-filling	TAS Traceable Author Statement more info
involved_in depyrimidination	TAS Traceable Author Statement more info
involved_in negative regulation of nuclease activity	IDA Inferred from Direct Assay more info	PubMed
involved_in response to oxidative stress	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in centrosome	IEA Inferred from Electronic Annotation more info
located_in chromosome	IEA Inferred from Electronic Annotation more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: endonuclease 8-like 1

Names: DNA endonuclease eight-like glycosylase 1; DNA glycosylase/AP lyase Neil1; DNA-(apurinic or apyrimidinic site) lyase Neil1; NEH1; endonuclease VIII; endonuclease VIII-like 1; nei endonuclease VIII-like 1; nei homolog 1; nei-like protein 1

NP_001243481.1

EC 4.2.99.18

NP_001339448.1

EC 4.2.99.18

NP_001339449.1

EC 4.2.99.18

NP_078884.2

EC 4.2.99.18

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001256552.1 → NP_001243481.1 endonuclease 8-like 1 isoform 1

See identical proteins and their annotated locations for NP_001243481.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes the longer protein (isoform 1).

Source sequence(s)

AC068338, BC010876

UniProtKB/Swiss-Prot

Q96FI4

Conserved Domains (3) summary

cd08967
Location:87 → 213

MeNeil1_N; N-terminal domain of metazoan Nei-like glycosylase 1 (NEIL1)

pfam06831
Location:245 → 283

H2TH; Formamidopyrimidine-DNA glycosylase H2TH domain

pfam09292
Location:338 → 376

Neil1-DNA_bind; Endonuclease VIII-like 1, DNA bind
NM_001352519.2 → NP_001339448.1 endonuclease 8-like 1 isoform 4

Status: VALIDATED

Source sequence(s)

AC068338

Conserved Domains (1) summary

cl26942
Location:86 → 179

H2TH; Formamidopyrimidine-DNA glycosylase H2TH domain
NM_001352520.2 → NP_001339449.1 endonuclease 8-like 1 isoform 5

Status: VALIDATED

Source sequence(s)

AC068338

Conserved Domains (3) summary

pfam09292
Location:150 → 188

Neil1-DNA_bind; Endonuclease VIII-like 1, DNA bind

cl03119
Location:1 → 37

FpgNei_N; N-terminal domain of Fpg (formamidopyrimidine-DNA glycosylase, MutM)_Nei (endonuclease VIII) base-excision repair DNA glycosylases

cl26942
Location:44 → 112

H2TH; Formamidopyrimidine-DNA glycosylase H2TH domain
NM_024608.4 → NP_078884.2 endonuclease 8-like 1 isoform 2

See identical proteins and their annotated locations for NP_078884.2

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (2) has a distinct N-terminus and is shorter than isoform 1.

Source sequence(s)

AB079068, AC068338, AK026055, DB282730

Consensus CDS

CCDS10278.1

UniProtKB/Swiss-Prot

D3DW75, Q6ZRA7, Q86XW7, Q96FI4, Q9H6C3

Related

ENSP00000347170.4, ENST00000355059.9

Conserved Domains (3) summary

cd08967
Location:1 → 127

MeNeil1_N; N-terminal domain of metazoan Nei-like glycosylase 1 (NEIL1)

PRK10445
Location:134 → 194

PRK10445; endonuclease VIII; Provisional

pfam09292
Location:252 → 290

Neil1-DNA_bind; Endonuclease VIII-like 1, DNA bind

RNA

NR_046311.2 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (3) contains an alternate 5' exon and uses an alternate splice site in an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC068338, AK097008