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

    Gene ID: 79661, updated on 9-Jul-2017
    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; Vega:OTTHUMG00000142821
    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]
    Orthologs
    Location:
    15q24.2
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 15 NC_000015.10 (75346895..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

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    • 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...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ22402

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    DNA N-glycosylase activity TAS
    Traceable Author Statement
    more info
     
    DNA-(apurinic or apyrimidinic site) lyase activity TAS
    Traceable Author Statement
    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 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 IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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_078884.2
    XP_005254716.1
    XP_006720740.1
    XP_006720741.1
    XP_006720742.1
    XP_006720743.1
    XP_006720744.1
    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

    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
    3. NM_001352520.1NP_001339449.1  endonuclease 8-like 1 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC068338
    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, OTTHUMP00000183482, ENST00000355059.8, OTTHUMT00000286412
      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 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p7 Primary Assembly

      Range
      75346895..75355251
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011522003.2XP_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_011522004.2XP_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_006720681.1XP_006720744.1  endonuclease 8-like 1 isoform X6

      See identical proteins and their annotated locations for XP_006720744.1

      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
    4. XM_011522007.1XP_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
    5. XM_006720680.1XP_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, OTTHUMP00000249070, ENST00000569035.5, OTTHUMT00000419886
      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
    6. XM_011522008.1XP_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
    7. XM_011522002.1XP_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
    8. XM_011522005.1XP_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
    9. XM_011522006.1XP_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
    10. XM_017022568.1XP_016878057.1  endonuclease 8-like 1 isoform X9

    11. XM_006720678.3XP_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
    12. XM_017022566.1XP_016878055.1  endonuclease 8-like 1 isoform X5

    13. XM_006720677.3XP_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
    14. XM_011522001.2XP_011520303.2  endonuclease 8-like 1 isoform X2

    15. XM_005254659.4XP_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, OTTHUMP00000249069, ENST00000564784.5, OTTHUMT00000419885
      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_006720679.3XP_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
    17. XM_017022567.1XP_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_001751384.1 RNA Sequence

    2. XR_001751385.1 RNA Sequence

    3. XR_429472.3 RNA Sequence

    4. XR_243127.4 RNA Sequence

    Alternate CHM1_1.1

    Genomic

    1. NC_018926.2 Alternate CHM1_1.1

      Range
      75757932..75766193
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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