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    OGG1 8-oxoguanine DNA glycosylase [ Homo sapiens (human) ]

    Gene ID: 4968, updated on 10-Dec-2024

    Summary

    Official Symbol
    OGG1provided by HGNC
    Official Full Name
    8-oxoguanine DNA glycosylaseprovided by HGNC
    Primary source
    HGNC:HGNC:8125
    See related
    Ensembl:ENSG00000114026 MIM:601982; AllianceGenome:HGNC:8125
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    HMMH; MUTM; OGH1; HOGG1
    Summary
    This gene encodes the enzyme responsible for the excision of 8-oxoguanine, a mutagenic base byproduct which occurs as a result of exposure to reactive oxygen. The action of this enzyme includes lyase activity for chain cleavage. Alternative splicing of the C-terminal region of this gene classifies splice variants into two major groups, type 1 and type 2, depending on the last exon of the sequence. Type 1 alternative splice variants end with exon 7 and type 2 end with exon 8. All variants share the N-terminal region in common, which contains a mitochondrial targeting signal that is essential for mitochondrial localization. Many alternative splice variants for this gene have been described, but the full-length nature for every variant has not been determined. [provided by RefSeq, Aug 2008]
    Expression
    Ubiquitous expression in kidney (RPKM 5.9), lymph node (RPKM 5.1) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See OGG1 in Genome Data Viewer
    Location:
    3p25.3
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (9749952..9783108)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (9741907..9758605)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (9791636..9808334)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:9745156-9746066 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:9757470-9757599 Neighboring gene copine family member 9 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19405 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:9772855-9773414 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14038 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14039 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:9773975-9774534 Neighboring gene bromodomain and PHD finger containing 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19406 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19407 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14040 Neighboring gene calcium/calmodulin dependent protein kinase I Neighboring gene Sharpr-MPRA regulatory region 4794 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14041 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:9832484-9832984 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14042 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:9834089-9834615 Neighboring gene transcriptional adaptor 3 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:9834616-9835142 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19409 Neighboring gene ARPC4-TTLL3 readthrough Neighboring gene actin related protein 2/3 complex subunit 4 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19410 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14044 Neighboring gene tubulin tyrosine ligase like 3 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:9866222-9866442 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:9867034-9867534 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:9867535-9868035 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:9868869-9869369 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:9876763-9877262

    Genomic regions, transcripts, and products

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat HIV-1 Tat appears to upregulate OGG1 expression by sequestrating AP-4 PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    acts_upstream_of_or_within DNA damage response IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in base-excision repair TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in base-excision repair, AP site formation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cellular response to cadmium ion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to reactive oxygen species IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in depurination TAS
    Traceable Author Statement
    more info
     
    involved_in depyrimidination TAS
    Traceable Author Statement
    more info
     
    involved_in negative regulation of apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within negative regulation of double-strand break repair via single-strand annealing IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within nucleotide-excision repair IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of gene expression via chromosomal CpG island demethylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of transcription by RNA polymerase II IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of DNA-templated transcription IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in response to estradiol IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to ethanol IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to folic acid IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to light stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to oxidative stress IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in response to radiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in response to xenobiotic stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in mitochondrial matrix TAS
    Traceable Author Statement
    more info
     
    located_in mitochondrion HTP PubMed 
    located_in nuclear matrix IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nuclear speck IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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 
    part_of protein-containing complex IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    N-glycosylase/DNA lyase
    Names
    8-hydroxyguanine DNA glycosylase
    AP lyase
    DNA-apurinic or apyrimidinic site lyase
    OGG1 type 1f
    NP_001341577.1
    NP_001341578.1
    NP_001341579.1
    NP_001341580.1
    NP_001341581.1
    NP_002533.1
    NP_058212.1
    NP_058213.1
    NP_058214.1
    NP_058434.1
    NP_058436.1
    NP_058437.1
    NP_058438.1
    XP_016861982.1
    XP_016861983.1
    XP_016861984.1
    XP_016861986.1
    XP_047304156.1
    XP_047304157.1
    XP_047304158.1
    XP_047304159.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    Genomic

    1. NG_012106.2 RefSeqGene

      Range
      5002..12457
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001354648.2NP_001341577.1  N-glycosylase/DNA lyase isoform 1d

      Status: REVIEWED

      Source sequence(s)
      AC022382
      Conserved Domains (1) summary
      TIGR00588
      Location:11189
      ogg; 8-oxoguanine DNA-glycosylase (ogg)
    2. NM_001354649.2NP_001341578.1  N-glycosylase/DNA lyase isoform 1e

      Status: REVIEWED

      Source sequence(s)
      AC022382
      Conserved Domains (1) summary
      TIGR00588
      Location:11217
      ogg; 8-oxoguanine DNA-glycosylase (ogg)
    3. NM_001354650.2NP_001341579.1  N-glycosylase/DNA lyase isoform 2f

      Status: REVIEWED

      Source sequence(s)
      AC022382
      UniProtKB/TrEMBL
      A0A9L9PXU1
      Related
      ENSP00000516725.1, ENST00000707074.1
      Conserved Domains (1) summary
      TIGR00588
      Location:11249
      ogg; 8-oxoguanine DNA-glycosylase (ogg)
    4. NM_001354651.2NP_001341580.1  N-glycosylase/DNA lyase isoform 2g

      Status: REVIEWED

      Source sequence(s)
      AC022382
      UniProtKB/TrEMBL
      E5KPS3
      Conserved Domains (1) summary
      TIGR00588
      Location:11300
      ogg; 8-oxoguanine DNA-glycosylase (ogg)
    5. NM_001354652.2NP_001341581.1  N-glycosylase/DNA lyase isoform 2h

      Status: REVIEWED

      Source sequence(s)
      AC022382
      Conserved Domains (1) summary
      TIGR00588
      Location:11249
      ogg; 8-oxoguanine DNA-glycosylase (ogg)
    6. NM_001434445.1NP_001421374.1  N-glycosylase/DNA lyase isoform 3a

      Status: REVIEWED

      Source sequence(s)
      AC022382
      UniProtKB/TrEMBL
      E5KPS3
    7. NM_001434446.1NP_001421375.1  N-glycosylase/DNA lyase isoform 3b

      Status: REVIEWED

      Source sequence(s)
      AC022382
    8. NM_001434447.1NP_001421376.1  N-glycosylase/DNA lyase isoform 4a

      Status: REVIEWED

      Source sequence(s)
      AC022382
    9. NM_001434448.1NP_001421377.1  N-glycosylase/DNA lyase isoform 4b

      Status: REVIEWED

      Source sequence(s)
      AC022382
      UniProtKB/TrEMBL
      E5KPS3
    10. NM_001434449.1NP_001421378.1  N-glycosylase/DNA lyase isoform 4c

      Status: REVIEWED

      Source sequence(s)
      AC022382
    11. NM_001434450.1NP_001421379.1  N-glycosylase/DNA lyase isoform 4d

      Status: REVIEWED

      Source sequence(s)
      AC022382
    12. NM_002542.6NP_002533.1  N-glycosylase/DNA lyase isoform 1a

      See identical proteins and their annotated locations for NP_002533.1

      Status: REVIEWED

      Description
      Transcript Variant: Transcript variant 1a represents the predominant form of this gene.
      Source sequence(s)
      BM847736, U88527, Y11838
      Consensus CDS
      CCDS2581.1
      UniProtKB/Swiss-Prot
      A8K1E3, O00390, O00670, O00705, O14876, O15527, O95488, P78554, Q9BW42, Q9UIK0, Q9UIK1, Q9UIK2, Q9UL34, Q9Y2C0, Q9Y2C1, Q9Y6C3, Q9Y6C4
      UniProtKB/TrEMBL
      E5KPN1, E5KPS3
      Related
      ENSP00000342851.7, ENST00000344629.12
      Conserved Domains (1) summary
      TIGR00588
      Location:11328
      ogg; 8-oxoguanine DNA-glycosylase (ogg)
    13. NM_016819.4NP_058212.1  N-glycosylase/DNA lyase isoform 1b

      See identical proteins and their annotated locations for NP_058212.1

      Status: REVIEWED

      Description
      Transcript Variant: Transcript variant 1b contains a 244 bp insertion between exons 6 and 7, as compared to the predominant transcript variant 1a.
      Source sequence(s)
      AB019532, AC022382, BM847736, U88527, Y11838
      Consensus CDS
      CCDS43046.1
      UniProtKB/TrEMBL
      E5KPS3
      Related
      ENSP00000345520.5, ENST00000339511.9
      Conserved Domains (3) summary
      TIGR00588
      Location:11317
      ogg; 8-oxoguanine DNA-glycosylase (ogg)
      cd00056
      Location:139316
      ENDO3c; endonuclease III; includes endonuclease III (DNA-(apurinic or apyrimidinic site) lyase), alkylbase DNA glycosidases (Alka-family) and other DNA glycosidases
      pfam07934
      Location:25141
      OGG_N; 8-oxoguanine DNA glycosylase, N-terminal domain
    14. NM_016820.4NP_058213.1  N-glycosylase/DNA lyase isoform 1c

      See identical proteins and their annotated locations for NP_058213.1

      Status: REVIEWED

      Description
      Transcript Variant: Transcript variant 1c contains a 17 bp insertion before exon 7, as compared to the predominant transcript variant 1a.
      Source sequence(s)
      AB019532, BM847736, U88527, U96710, Y11838
      Consensus CDS
      CCDS2580.1
      UniProtKB/TrEMBL
      E5KPN0, E5KPS2
      Related
      ENSP00000305584.7, ENST00000302003.11
      Conserved Domains (3) summary
      TIGR00588
      Location:11316
      ogg; 8-oxoguanine DNA-glycosylase (ogg)
      cd00056
      Location:139316
      ENDO3c; endonuclease III; includes endonuclease III (DNA-(apurinic or apyrimidinic site) lyase), alkylbase DNA glycosidases (Alka-family) and other DNA glycosidases
      pfam07934
      Location:25141
      OGG_N; 8-oxoguanine DNA glycosylase, N-terminal domain
    15. NM_016821.3NP_058214.1  N-glycosylase/DNA lyase isoform 2a

      See identical proteins and their annotated locations for NP_058214.1

      Status: REVIEWED

      Description
      Transcript Variant: Transcript variant 2a contains an alternate exon 8 instead of exon 7, as compared to the predominant transcript variant 1a.
      Source sequence(s)
      AW614399, BM847736, U88620
      Consensus CDS
      CCDS2576.1
      UniProtKB/TrEMBL
      E5KPM5, E5KPS3
      Related
      ENSP00000306561.7, ENST00000302036.12
      Conserved Domains (3) summary
      TIGR00588
      Location:11322
      ogg; 8-oxoguanine DNA-glycosylase (ogg)
      cd00056
      Location:139319
      ENDO3c; endonuclease III; includes endonuclease III (DNA-(apurinic or apyrimidinic site) lyase), alkylbase DNA glycosidases (Alka-family) and other DNA glycosidases
      pfam07934
      Location:25141
      OGG_N; 8-oxoguanine DNA glycosylase, N-terminal domain
    16. NM_016826.3NP_058434.1  N-glycosylase/DNA lyase isoform 2b

      See identical proteins and their annotated locations for NP_058434.1

      Status: REVIEWED

      Description
      Transcript Variant: Transcript variant 2b contains an alternate exon 8 and skips exons 5 and 6, as compared to the predominant transcript variant 1a.
      Source sequence(s)
      AB019528, AW614399, BM847736, U88527
      Consensus CDS
      CCDS2577.1
      UniProtKB/TrEMBL
      E5KPM6
      Related
      ENSP00000344899.6, ENST00000352937.6
      Conserved Domains (2) summary
      cd00056
      Location:139273
      ENDO3c; endonuclease III; includes endonuclease III (DNA-(apurinic or apyrimidinic site) lyase), alkylbase DNA glycosidases (Alka-family) and other DNA glycosidases
      pfam07934
      Location:25141
      OGG_N; 8-oxoguanine DNA glycosylase, N-terminal domain
    17. NM_016827.3NP_058436.1  N-glycosylase/DNA lyase isoform 2c

      See identical proteins and their annotated locations for NP_058436.1

      Status: REVIEWED

      Description
      Transcript Variant: Transcript variant 2c contains an alternate exon 8 and skips exons 4 to 6, as compared to the predominant transcript variant 1a.
      Source sequence(s)
      AB019529, AW614399, BM847736, U88527
      Consensus CDS
      CCDS2578.1
      UniProtKB/TrEMBL
      E5KPM8, H7C0A1
      Related
      ENSP00000373337.5, ENST00000383826.9
      Conserved Domains (2) summary
      pfam07934
      Location:25141
      OGG_N; 8-oxoguanine DNA glycosylase, N-terminal domain
      cl23768
      Location:139168
      ENDO3c; endonuclease III; includes endonuclease III (DNA-(apurinic or apyrimidinic site) lyase), alkylbase DNA glycosidases (Alka-family) and other DNA glycosidases
    18. NM_016828.3NP_058437.1  N-glycosylase/DNA lyase isoform 2d

      See identical proteins and their annotated locations for NP_058437.1

      Status: REVIEWED

      Description
      Transcript Variant: Transcript variant 2d contains an alternate exon 8 and a 100 bp insertion, as compared to the predominant transcript variant 1a.
      Source sequence(s)
      AB019530, AW614399, BM847736, U88527
      Consensus CDS
      CCDS2579.1
      UniProtKB/TrEMBL
      E5KPM7, E5KPS3
      Related
      ENSP00000305527.8, ENST00000302008.12
      Conserved Domains (3) summary
      TIGR00588
      Location:11316
      ogg; 8-oxoguanine DNA-glycosylase (ogg)
      cd00056
      Location:139317
      ENDO3c; endonuclease III; includes endonuclease III (DNA-(apurinic or apyrimidinic site) lyase), alkylbase DNA glycosidases (Alka-family) and other DNA glycosidases
      pfam07934
      Location:25141
      OGG_N; 8-oxoguanine DNA glycosylase, N-terminal domain
    19. NM_016829.3NP_058438.1  N-glycosylase/DNA lyase isoform 2e

      See identical proteins and their annotated locations for NP_058438.1

      Status: REVIEWED

      Description
      Transcript Variant: Transcript variant 2e contains an alternate exon 8 and a 53 bp insertion between exons 6 and 8, as compared to the predominant transcript variant 1a.
      Source sequence(s)
      AB019531, AW614399, BM847736, U88527
      Consensus CDS
      CCDS46742.1
      UniProtKB/TrEMBL
      E5KPM9, E5KPS3
      Related
      ENSP00000403598.2, ENST00000449570.6
      Conserved Domains (1) summary
      TIGR00588
      Location:11316
      ogg; 8-oxoguanine DNA-glycosylase (ogg)

    RNA

    1. NR_148930.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC022382
    2. NR_148931.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC022382
    3. NR_148932.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC022382

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      9749952..9783108
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047448200.1XP_047304156.1  N-glycosylase/DNA lyase isoform X4

    2. XM_017006497.3XP_016861986.1  N-glycosylase/DNA lyase isoform X5

    3. XM_047448201.1XP_047304157.1  N-glycosylase/DNA lyase isoform X6

    4. XM_047448202.1XP_047304158.1  N-glycosylase/DNA lyase isoform X6

    5. XM_017006494.3XP_016861983.1  N-glycosylase/DNA lyase isoform X2

    6. XM_017006495.3XP_016861984.1  N-glycosylase/DNA lyase isoform X3

    7. XM_017006493.3XP_016861982.1  N-glycosylase/DNA lyase isoform X1

      UniProtKB/TrEMBL
      E5KPS2
      Conserved Domains (2) summary
      cd00056
      Location:139250
      ENDO3c; endonuclease III; includes endonuclease III (DNA-(apurinic or apyrimidinic site) lyase), alkylbase DNA glycosidases (Alka-family) and other DNA glycosidases
      pfam07934
      Location:25141
      OGG_N; 8-oxoguanine DNA glycosylase, N-terminal domain
    8. XM_047448203.1XP_047304159.1  N-glycosylase/DNA lyase isoform X7

      UniProtKB/TrEMBL
      H7C0A1
      Related
      ENSP00000393726.1, ENST00000429146.5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      9741907..9758605
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)