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

Gene ID: 79661, updated on 8-Dec-2018

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
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

Genomic context

See NEIL1 in Genome Data Viewer
Location:
15q24.2
Exon count:
15
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 15 NC_000015.10 (75346638..75355251)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (75639331..75647592)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene acidic nuclear phosphoprotein 32 family member B pseudogene 1 Neighboring gene COMM domain containing 4 Neighboring gene microRNA 631 Neighboring gene mannosidase alpha class 2C member 1 Neighboring gene SIN3 transcription regulator family member A Neighboring gene ribosomal protein L13 pseudogene 4 Neighboring gene uncharacterized LOC105370902 Neighboring gene protein tyrosine phosphatase, non-receptor type 9

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • APEX1-Independent Resolution of AP Sites via the Single Nucleotide Replacement Pathway, organism-specific biosystem (from REACTOME)
    APEX1-Independent Resolution of AP Sites via the Single Nucleotide Replacement Pathway, organism-specific biosystemNEIL1 and NEIL2 have a dual DNA glycosylase and beta/delta lyase activity. The AP (apurinic/apyrimidinic) site-directed lyase activity of NEIL1 and NEIL2 is their major physiological role, as they ca...
  • Base Excision Repair, organism-specific biosystem (from REACTOME)
    Base Excision Repair, organism-specific biosystemOf the three major pathways involved in the repair of nucleotide damage in DNA, base excision repair (BER) involves the greatest number of individual enzymatic activities. This is the consequence of ...
  • Base excision repair, organism-specific biosystem (from KEGG)
    Base excision repair, organism-specific biosystemBase excision repair (BER) is the predominant DNA damage repair pathway for the processing of small base lesions, derived from oxidation and alkylation damages. BER is normally defined as DNA repair ...
  • Base excision repair, conserved biosystem (from KEGG)
    Base excision repair, conserved biosystemBase excision repair (BER) is the predominant DNA damage repair pathway for the processing of small base lesions, derived from oxidation and alkylation damages. BER is normally defined as DNA repair ...
  • Base-Excision Repair, AP Site Formation, organism-specific biosystem (from REACTOME)
    Base-Excision Repair, AP Site Formation, organism-specific biosystemBase excision repair is initiated by DNA glycosylases that hydrolytically cleave the base-deoxyribose glycosyl bond of a damaged nucleotide residue, releasing the damaged base (Lindahl and Wood 1999,...
  • Cleavage of the damaged pyrimidine, organism-specific biosystem (from REACTOME)
    Cleavage of the damaged pyrimidine, organism-specific biosystemDamaged pyrimidines are cleaved by pyrimide-specific glycosylases (Lindahl and Wood 1999).
  • DNA Repair, organism-specific biosystem (from REACTOME)
    DNA Repair, organism-specific biosystemDNA repair is a phenomenal multi-enzyme, multi-pathway system required to ensure the integrity of the cellular genome. Living organisms are constantly exposed to harmful metabolic by-products, enviro...
  • Depyrimidination, organism-specific biosystem (from REACTOME)
    Depyrimidination, organism-specific biosystemDepyrimidination of a damaged nucleotide in DNA is mediated by a pyrimidine-specific DNA glycosylase. The glycosylase cleaves the N-C1' glycosidic bond between the damaged DNA base and the deoxyribos...
  • Recognition and association of DNA glycosylase with site containing an affected pyrimidine, organism-specific biosystem (from REACTOME)
    Recognition and association of DNA glycosylase with site containing an affected pyrimidine, organism-specific biosystemBase excision repair is initiated by a DNA glycosylase which first recognizes and removes a damaged or incorrect (e.g. mismatched) base (Sokhansanj et al. 2002).
  • Resolution of Abasic Sites (AP sites), organism-specific biosystem (from REACTOME)
    Resolution of Abasic Sites (AP sites), organism-specific biosystemResolution of AP sites can occur through the single nucleotide replacement pathway or through the multiple nucleotide patch replacement pathway, also known as the long-patch base excision repair (BER...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ22402

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA N-glycosylase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
DNA N-glycosylase activity TAS
Traceable Author Statement
more info
 
DNA-(apurinic or apyrimidinic site) endonuclease activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
DNA-(apurinic or apyrimidinic site) endonuclease activity TAS
Traceable Author Statement
more info
 
class I DNA-(apurinic or apyrimidinic site) endonuclease activity IEA
Inferred from Electronic Annotation
more info
 
damaged DNA binding IEA
Inferred from Electronic Annotation
more info
 
hydrolase activity, acting on glycosyl bonds IDA
Inferred from Direct Assay
more info
PubMed 
protein C-terminus binding IPI
Inferred from Physical Interaction
more info
PubMed 
zinc ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
base-excision repair IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
base-excision repair IDA
Inferred from Direct Assay
more info
PubMed 
depyrimidination TAS
Traceable Author Statement
more info
 
negative regulation of nuclease activity IDA
Inferred from Direct Assay
more info
PubMed 
nucleotide-excision repair IEA
Inferred from Electronic Annotation
more info
 
response to oxidative stress IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
chromosome IEA
Inferred from Electronic Annotation
more info
 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
microtubule organizing center IEA
Inferred from Electronic Annotation
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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
NP_001339448.1
NP_001339449.1
NP_078884.2
XP_005254716.1
XP_006720740.1
XP_006720741.1
XP_006720742.1
XP_006720743.1
XP_011520303.2
XP_011520304.1
XP_011520305.1
XP_011520306.1
XP_011520307.1
XP_011520308.1
XP_011520309.1
XP_011520310.1
XP_016878055.1
XP_016878056.1
XP_016878057.1

NCBI Reference Sequences (RefSeq)

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)

  1. NM_001256552.1NP_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:87213
    MeNeil1_N; N-terminal domain of metazoan Nei-like glycosylase 1 (NEIL1)
    pfam06831
    Location:245283
    H2TH; Formamidopyrimidine-DNA glycosylase H2TH domain
    pfam09292
    Location:338376
    Neil1-DNA_bind; Endonuclease VIII-like 1, DNA bind
  2. NM_001352519.1NP_001339448.1  endonuclease 8-like 1 isoform 4

    Status: VALIDATED

    Source sequence(s)
    AC068338
    Conserved Domains (1) summary
    cl26942
    Location:86179
    H2TH; Formamidopyrimidine-DNA glycosylase H2TH domain
  3. NM_001352520.1NP_001339449.1  endonuclease 8-like 1 isoform 5

    Status: VALIDATED

    Source sequence(s)
    AC068338
    Conserved Domains (3) summary
    pfam09292
    Location:150188
    Neil1-DNA_bind; Endonuclease VIII-like 1, DNA bind
    cl03119
    Location:137
    FpgNei_N; N-terminal domain of Fpg (formamidopyrimidine-DNA glycosylase, MutM)_Nei (endonuclease VIII) base-excision repair DNA glycosylases
    cl26942
    Location:44112
    H2TH; Formamidopyrimidine-DNA glycosylase H2TH domain
  4. NM_024608.3NP_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
    Q96FI4
    Related
    ENSP00000347170.4, ENST00000355059.8
    Conserved Domains (3) summary
    cd08967
    Location:1127
    MeNeil1_N; N-terminal domain of metazoan Nei-like glycosylase 1 (NEIL1)
    pfam06831
    Location:159197
    H2TH; Formamidopyrimidine-DNA glycosylase H2TH domain
    pfam09292
    Location:252290
    Neil1-DNA_bind; Endonuclease VIII-like 1, DNA bind

RNA

  1. NR_046311.1 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

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p12 Primary Assembly

    Range
    75346638..75355251
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011522003.3XP_011520305.1  endonuclease 8-like 1 isoform X6

    See identical proteins and their annotated locations for XP_011520305.1

    UniProtKB/Swiss-Prot
    Q96FI4
    Conserved Domains (3) summary
    cd08967
    Location:1127
    MeNeil1_N; N-terminal domain of metazoan Nei-like glycosylase 1 (NEIL1)
    pfam06831
    Location:159197
    H2TH; Formamidopyrimidine-DNA glycosylase H2TH domain
    pfam09292
    Location:252290
    Neil1-DNA_bind; Endonuclease VIII-like 1, DNA bind
  2. XM_011522004.3XP_011520306.1  endonuclease 8-like 1 isoform X6

    See identical proteins and their annotated locations for XP_011520306.1

    UniProtKB/Swiss-Prot
    Q96FI4
    Conserved Domains (3) summary
    cd08967
    Location:1127
    MeNeil1_N; N-terminal domain of metazoan Nei-like glycosylase 1 (NEIL1)
    pfam06831
    Location:159197
    H2TH; Formamidopyrimidine-DNA glycosylase H2TH domain
    pfam09292
    Location:252290
    Neil1-DNA_bind; Endonuclease VIII-like 1, DNA bind
  3. XM_011522007.2XP_011520309.1  endonuclease 8-like 1 isoform X8

    See identical proteins and their annotated locations for XP_011520309.1

    Conserved Domains (2) summary
    pfam06831
    Location:90128
    H2TH; Formamidopyrimidine-DNA glycosylase H2TH domain
    pfam09292
    Location:183221
    Neil1-DNA_bind; Endonuclease VIII-like 1, DNA bind
  4. XM_006720680.2XP_006720743.1  endonuclease 8-like 1 isoform X6

    See identical proteins and their annotated locations for XP_006720743.1

    UniProtKB/Swiss-Prot
    Q96FI4
    Related
    ENSP00000455730.1, ENST00000569035.5
    Conserved Domains (3) summary
    cd08967
    Location:1127
    MeNeil1_N; N-terminal domain of metazoan Nei-like glycosylase 1 (NEIL1)
    pfam06831
    Location:159197
    H2TH; Formamidopyrimidine-DNA glycosylase H2TH domain
    pfam09292
    Location:252290
    Neil1-DNA_bind; Endonuclease VIII-like 1, DNA bind
  5. XM_011522008.2XP_011520310.1  endonuclease 8-like 1 isoform X8

    See identical proteins and their annotated locations for XP_011520310.1

    Conserved Domains (2) summary
    pfam06831
    Location:90128
    H2TH; Formamidopyrimidine-DNA glycosylase H2TH domain
    pfam09292
    Location:183221
    Neil1-DNA_bind; Endonuclease VIII-like 1, DNA bind
  6. XM_011522002.2XP_011520304.1  endonuclease 8-like 1 isoform X6

    See identical proteins and their annotated locations for XP_011520304.1

    UniProtKB/Swiss-Prot
    Q96FI4
    Conserved Domains (3) summary
    cd08967
    Location:1127
    MeNeil1_N; N-terminal domain of metazoan Nei-like glycosylase 1 (NEIL1)
    pfam06831
    Location:159197
    H2TH; Formamidopyrimidine-DNA glycosylase H2TH domain
    pfam09292
    Location:252290
    Neil1-DNA_bind; Endonuclease VIII-like 1, DNA bind
  7. XM_011522005.2XP_011520307.1  endonuclease 8-like 1 isoform X7

    Conserved Domains (2) summary
    pfam06831
    Location:99137
    H2TH; Formamidopyrimidine-DNA glycosylase H2TH domain
    pfam09292
    Location:192230
    Neil1-DNA_bind; Endonuclease VIII-like 1, DNA bind
  8. XM_011522006.2XP_011520308.1  endonuclease 8-like 1 isoform X8

    See identical proteins and their annotated locations for XP_011520308.1

    Conserved Domains (2) summary
    pfam06831
    Location:90128
    H2TH; Formamidopyrimidine-DNA glycosylase H2TH domain
    pfam09292
    Location:183221
    Neil1-DNA_bind; Endonuclease VIII-like 1, DNA bind
  9. XM_017022568.1XP_016878057.1  endonuclease 8-like 1 isoform X9

  10. XM_006720678.4XP_006720741.1  endonuclease 8-like 1 isoform X3

    Conserved Domains (2) summary
    cd08967
    Location:87213
    MeNeil1_N; N-terminal domain of metazoan Nei-like glycosylase 1 (NEIL1)
    pfam09292
    Location:298336
    Neil1-DNA_bind; Endonuclease VIII-like 1, DNA bind
  11. XM_017022566.2XP_016878055.1  endonuclease 8-like 1 isoform X5

  12. XM_006720677.4XP_006720740.1  endonuclease 8-like 1 isoform X1

    Conserved Domains (3) summary
    cd08967
    Location:78204
    MeNeil1_N; N-terminal domain of metazoan Nei-like glycosylase 1 (NEIL1)
    pfam06831
    Location:236274
    H2TH; Formamidopyrimidine-DNA glycosylase H2TH domain
    pfam09292
    Location:329367
    Neil1-DNA_bind; Endonuclease VIII-like 1, DNA bind
  13. XM_011522001.3XP_011520303.2  endonuclease 8-like 1 isoform X2

  14. XM_006720679.4XP_006720742.1  endonuclease 8-like 1 isoform X4

    See identical proteins and their annotated locations for XP_006720742.1

    Conserved Domains (3) summary
    cd08967
    Location:44170
    MeNeil1_N; N-terminal domain of metazoan Nei-like glycosylase 1 (NEIL1)
    pfam06831
    Location:202240
    H2TH; Formamidopyrimidine-DNA glycosylase H2TH domain
    pfam09292
    Location:295333
    Neil1-DNA_bind; Endonuclease VIII-like 1, DNA bind
  15. XM_005254659.5XP_005254716.1  endonuclease 8-like 1 isoform X6

    See identical proteins and their annotated locations for XP_005254716.1

    UniProtKB/Swiss-Prot
    Q96FI4
    Related
    ENSP00000457352.1, ENST00000564784.5
    Conserved Domains (3) summary
    cd08967
    Location:1127
    MeNeil1_N; N-terminal domain of metazoan Nei-like glycosylase 1 (NEIL1)
    pfam06831
    Location:159197
    H2TH; Formamidopyrimidine-DNA glycosylase H2TH domain
    pfam09292
    Location:252290
    Neil1-DNA_bind; Endonuclease VIII-like 1, DNA bind
  16. XM_017022567.2XP_016878056.1  endonuclease 8-like 1 isoform X8

    Conserved Domains (2) summary
    pfam06831
    Location:90128
    H2TH; Formamidopyrimidine-DNA glycosylase H2TH domain
    pfam09292
    Location:183221
    Neil1-DNA_bind; Endonuclease VIII-like 1, DNA bind

RNA

  1. XR_001751384.2 RNA Sequence

  2. XR_002957679.1 RNA Sequence

    Related
    ENST00000561643.5
  3. XR_001751385.1 RNA Sequence

  4. XR_429472.4 RNA Sequence

  5. XR_243127.5 RNA Sequence

  6. XR_002957677.1 RNA Sequence

  7. XR_002957680.1 RNA Sequence

  8. XR_002957681.1 RNA Sequence

  9. XR_002957682.1 RNA Sequence

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