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    MUTYH mutY DNA glycosylase [ Homo sapiens (human) ]

    Gene ID: 4595, updated on 13-Apr-2024

    Summary

    Official Symbol
    MUTYHprovided by HGNC
    Official Full Name
    mutY DNA glycosylaseprovided by HGNC
    Primary source
    HGNC:HGNC:7527
    See related
    Ensembl:ENSG00000132781 MIM:604933; AllianceGenome:HGNC:7527
    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
    MYH
    Summary
    This gene encodes a DNA glycosylase involved in oxidative DNA damage repair. The enzyme excises adenine bases from the DNA backbone at sites where adenine is inappropriately paired with guanine, cytosine, or 8-oxo-7,8-dihydroguanine, a major oxidatively damaged DNA lesion. The protein is localized to the nucleus and mitochondria. This gene product is thought to play a role in signaling apoptosis by the introduction of single-strand breaks following oxidative damage. Mutations in this gene result in heritable predisposition to colorectal cancer, termed MUTYH-associated polyposis (MAP). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2017]
    Expression
    Ubiquitous expression in spleen (RPKM 3.1), thyroid (RPKM 3.0) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See MUTYH in Genome Data Viewer
    Location:
    1p34.1
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (45329242..45340440, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (45200799..45211997, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (45794914..45806112, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 961 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 962 Neighboring gene long intergenic non-protein coding RNA 1144 Neighboring gene Sharpr-MPRA regulatory region 12838 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 963 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 964 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 965 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr1:45795127-45796061 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:45805164-45805831 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:45805832-45806500 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:45806501-45807167 Neighboring gene 4-hydroxyphenylpyruvate dioxygenase like Neighboring gene uncharacterized LOC124904849 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 967 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 968 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:45826137-45826636 Neighboring gene target of EGR1, exonuclease Neighboring gene testis associated actin remodelling kinase 2 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:45856236-45856736 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 969 Neighboring gene peptidylprolyl isomerase A pseudogene 36

    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 Functions

    What's a GeneRIF?

    Phenotypes

    Professional guidelines

    Description
    Professional guideline
    ACMG 2013

    The ACMG recommends that laboratories performing clinical sequencing seek and report mutations in MUTYH that are pathogenic or expected to be pathogenic.

    GuidelinePubMed

    Associated conditions

    Description Tests
    Familial adenomatous polyposis 2
    MedGen: C3272841 OMIM: 608456 GeneReviews: MUTYH Polyposis
    Compare labs
    Stomach cancer
    MedGen: C0024623 OMIM: 613659 GeneReviews: Not available
    Compare labs

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC4416

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 4 iron, 4 sulfur cluster binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables 8-oxo-7,8-dihydroguanine DNA N-glycosylase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables DNA N-glycosylase activity TAS
    Traceable Author Statement
    more info
     
    NOT enables MutLalpha complex binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    NOT enables MutLbeta complex binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables MutSalpha complex binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    NOT enables MutSbeta complex binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables adenine/guanine mispair binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables oxidized purine DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables purine-specific mismatch base pair DNA N-glycosylase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables purine-specific mismatch base pair DNA N-glycosylase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in DNA repair TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in base-excision repair IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in depurination TAS
    Traceable Author Statement
    more info
     
    involved_in mismatch repair IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in negative regulation of necroptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in mitochondrion IEA
    Inferred from Electronic Annotation
    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
     

    General protein information

    Preferred Names
    adenine DNA glycosylase
    Names
    A/G-specific adenine DNA glycosylase
    mutY homolog
    mutY-like protein
    NP_001041636.2
    NP_001041637.1
    NP_001041638.1
    NP_001041639.1
    NP_001121897.1
    NP_001280119.1
    NP_001280120.1
    NP_001280121.1
    NP_001280124.1
    NP_001280125.1
    NP_001337579.1
    NP_001337580.1
    NP_001393998.1
    NP_001393999.1
    NP_001394000.1
    NP_001394001.1
    NP_001394002.1
    NP_001394004.1
    NP_001394006.1
    NP_001394007.1
    NP_001394008.1
    NP_001394009.1
    NP_001394010.1
    NP_001394011.1
    NP_001394012.1
    NP_001394014.1
    NP_001394015.1
    NP_001394016.1
    NP_001394017.1
    NP_001394018.1
    NP_001394020.1
    NP_036354.1
    XP_011539799.1
    XP_011539804.1
    XP_011539805.1
    XP_016856821.1
    XP_016856822.1
    XP_047277147.1
    XP_047277148.1
    XP_047277149.1
    XP_047277150.1
    XP_047277153.1
    XP_047277154.1
    XP_047277155.1
    XP_047277157.1
    XP_047277158.1
    XP_047277159.1
    XP_047277160.1
    XP_054192692.1
    XP_054192693.1
    XP_054192694.1
    XP_054192695.1
    XP_054192696.1
    XP_054192697.1
    XP_054192698.1
    XP_054192699.1
    XP_054192700.1
    XP_054192701.1
    XP_054192702.1
    XP_054192703.1
    XP_054192704.1
    XP_054192705.1
    XP_054192706.1

    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_008189.1 RefSeqGene

      Range
      5001..16229
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_220

    mRNA and Protein(s)

    1. NM_001048171.2NP_001041636.2  adenine DNA glycosylase isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (alpha3), also known as type 1, uses an alternate in-frame splice site in the 5' coding region, compared to variant alpha5. This difference results in a protein (isoform 2) that is shorter than isoform 5. Isoform 2 has been shown to localize to mitochondria.
      Source sequence(s)
      AL359540
      Consensus CDS
      CCDS41322.1
      UniProtKB/TrEMBL
      E5KP34
      Related
      ENSP00000361187.3, ENST00000372115.7
      Conserved Domains (1) summary
      COG1194
      Location:64466
      MutY; Adenine-specific DNA glycosylase, acts on AG and A-oxoG pairs [Replication, recombination and repair]
    2. NM_001048172.2NP_001041637.1  adenine DNA glycosylase isoform 3

      See identical proteins and their annotated locations for NP_001041637.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (gamma2) contains a distinct 5' UTR and uses an alternate in-frame splice site in the 5' coding region, compared to variant alpha5. These differences cause translation initiation at a downstream start codon and result in a protein (isoform 3) that is shorter than isoform 5.
      Source sequence(s)
      AB032927, AL359540, CN413115
      Consensus CDS
      CCDS41321.1
      UniProtKB/TrEMBL
      E5KP28, E5KP33
      Related
      ENSP00000346354.6, ENST00000354383.10
      Conserved Domains (4) summary
      smart00525
      Location:262282
      FES; iron-sulpphur binding domain in DNA-(apurinic or apyrimidinic site) lyase (subfamily of ENDO3)
      COG1194
      Location:65467
      MutY; Adenine-specific DNA glycosylase, acts on AG and A-oxoG pairs [Replication, recombination and repair]
      cd00056
      Location:101259
      ENDO3c; endonuclease III; includes endonuclease III (DNA-(apurinic or apyrimidinic site) lyase), alkylbase DNA glycosidases (Alka-family) and other DNA glycosidases
      cd03431
      Location:341470
      DNA_Glycosylase_C; DNA glycosylase (MutY in bacteria and hMYH in humans) is responsible for repairing misread A*oxoG residues to C*G by removing the inappropriately paired adenine base from the DNA backbone. It belongs to the Nudix hydrolase superfamily and is important ...
    3. NM_001048173.2NP_001041638.1  adenine DNA glycosylase isoform 2

      See identical proteins and their annotated locations for NP_001041638.1

      Status: REVIEWED

      Source sequence(s)
      AB032928, AL359540, CN413115
      Consensus CDS
      CCDS41322.1
      UniProtKB/TrEMBL
      E5KP34
      Related
      ENSP00000347685.2, ENST00000355498.6
      Conserved Domains (1) summary
      COG1194
      Location:64466
      MutY; Adenine-specific DNA glycosylase, acts on AG and A-oxoG pairs [Replication, recombination and repair]
    4. NM_001048174.2NP_001041639.1  adenine DNA glycosylase isoform 2

      See identical proteins and their annotated locations for NP_001041639.1

      Status: REVIEWED

      Source sequence(s)
      AB032925, AL359540
      Consensus CDS
      CCDS41322.1
      UniProtKB/TrEMBL
      E5KP34
      Related
      ENSP00000407590.2, ENST00000456914.7
      Conserved Domains (1) summary
      COG1194
      Location:64466
      MutY; Adenine-specific DNA glycosylase, acts on AG and A-oxoG pairs [Replication, recombination and repair]
    5. NM_001128425.2NP_001121897.1  adenine DNA glycosylase isoform 5

      See identical proteins and their annotated locations for NP_001121897.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (alpha5) represents the longest transcript and encodes the longest isoform (5).
      Source sequence(s)
      AB032920, AL359540, BM926983
      UniProtKB/TrEMBL
      E5KP25, E5KP30
      Related
      ENSP00000518552.2, ENST00000710952.2
      Conserved Domains (4) summary
      smart00525
      Location:289309
      FES; iron-sulpphur binding domain in DNA-(apurinic or apyrimidinic site) lyase (subfamily of ENDO3)
      COG1194
      Location:92494
      MutY; Adenine-specific DNA glycosylase, acts on AG and A-oxoG pairs [Replication, recombination and repair]
      cd00056
      Location:128286
      ENDO3c; endonuclease III; includes endonuclease III (DNA-(apurinic or apyrimidinic site) lyase), alkylbase DNA glycosidases (Alka-family) and other DNA glycosidases
      cd03431
      Location:368497
      DNA_Glycosylase_C; DNA glycosylase (MutY in bacteria and hMYH in humans) is responsible for repairing misread A*oxoG residues to C*G by removing the inappropriately paired adenine base from the DNA backbone. It belongs to the Nudix hydrolase superfamily and is important ...
    6. NM_001293190.2NP_001280119.1  adenine DNA glycosylase isoform 6

      See identical proteins and their annotated locations for NP_001280119.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (alpha2) uses an alternate in-frame splice site in the 5' coding region, compared to variant alpha5. The resulting isoform (6) lacks an internal segment, compared to isoform 5.
      Source sequence(s)
      AB032921, BM926983
      Consensus CDS
      CCDS72777.1
      UniProtKB/TrEMBL
      E5KP27
      Related
      ENSP00000361182.3, ENST00000372110.7
      Conserved Domains (4) summary
      smart00525
      Location:276296
      FES; iron-sulpphur binding domain in DNA-(apurinic or apyrimidinic site) lyase (subfamily of ENDO3)
      COG1194
      Location:79481
      MutY; Adenine-specific DNA glycosylase, acts on AG and A-oxoG pairs [Replication, recombination and repair]
      cd00056
      Location:115273
      ENDO3c; endonuclease III; includes endonuclease III (DNA-(apurinic or apyrimidinic site) lyase), alkylbase DNA glycosidases (Alka-family) and other DNA glycosidases
      cd03431
      Location:355484
      DNA_Glycosylase_C; DNA glycosylase (MutY in bacteria and hMYH in humans) is responsible for repairing misread A*oxoG residues to C*G by removing the inappropriately paired adenine base from the DNA backbone. It belongs to the Nudix hydrolase superfamily and is important ...
    7. NM_001293191.2NP_001280120.1  adenine DNA glycosylase isoform 7

      See identical proteins and their annotated locations for NP_001280120.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (beta1) contains a distinct 5' UTR, lacks a portion of the 5' coding region and also uses an alternate in-frame splice site in the 5' coding region, compared to variant alpha5. The resulting isoform (7) has a shorter N-terminus and lacks an internal 3aa segment, compared to isoform 5.
      Source sequence(s)
      AB032924, AL359540, AL560568
      Consensus CDS
      CCDS72776.1
      UniProtKB/TrEMBL
      E5KP33
      Related
      ENSP00000409718.1, ENST00000448481.5
      Conserved Domains (4) summary
      smart00525
      Location:272292
      FES; iron-sulpphur binding domain in DNA-(apurinic or apyrimidinic site) lyase (subfamily of ENDO3)
      COG1194
      Location:75477
      MutY; Adenine-specific DNA glycosylase, acts on AG and A-oxoG pairs [Replication, recombination and repair]
      cd00056
      Location:111269
      ENDO3c; endonuclease III; includes endonuclease III (DNA-(apurinic or apyrimidinic site) lyase), alkylbase DNA glycosidases (Alka-family) and other DNA glycosidases
      cd03431
      Location:351480
      DNA_Glycosylase_C; DNA glycosylase (MutY in bacteria and hMYH in humans) is responsible for repairing misread A*oxoG residues to C*G by removing the inappropriately paired adenine base from the DNA backbone. It belongs to the Nudix hydrolase superfamily and is important ...
    8. NM_001293192.2NP_001280121.1  adenine DNA glycosylase isoform 8

      See identical proteins and their annotated locations for NP_001280121.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (alpha4) uses an alternate splice site in the 5' region, which results in translation initiation at a downstream AUG start codon, compared to variant alpha5. The resulting isoform (8) has a shorter N-terminus, compared to isoform 5. Variants alpha4 and gamma4 encode the same isoform 8.
      Source sequence(s)
      AB032923, BM926983
      UniProtKB/TrEMBL
      Q5T418
      Conserved Domains (4) summary
      TIGR01084
      Location:3305
      mutY; A/G-specific adenine glycosylase
      smart00525
      Location:169189
      FES; iron-sulpphur binding domain in DNA-(apurinic or apyrimidinic site) lyase (subfamily of ENDO3)
      cd00056
      Location:8166
      ENDO3c; endonuclease III; includes endonuclease III (DNA-(apurinic or apyrimidinic site) lyase), alkylbase DNA glycosidases (Alka-family) and other DNA glycosidases
      cd03431
      Location:248377
      DNA_Glycosylase_C; DNA glycosylase (MutY in bacteria and hMYH in humans) is responsible for repairing misread A*oxoG residues to C*G by removing the inappropriately paired adenine base from the DNA backbone. It belongs to the Nudix hydrolase superfamily and is important ...
    9. NM_001293195.2NP_001280124.1  adenine DNA glycosylase isoform 2

      See identical proteins and their annotated locations for NP_001280124.1

      Status: REVIEWED

      Source sequence(s)
      AB032926, AL359540, AL560568
      Consensus CDS
      CCDS41322.1
      UniProtKB/TrEMBL
      E5KP34
      Related
      ENSP00000361176.1, ENST00000372104.5
      Conserved Domains (1) summary
      COG1194
      Location:64466
      MutY; Adenine-specific DNA glycosylase, acts on AG and A-oxoG pairs [Replication, recombination and repair]
    10. NM_001293196.2NP_001280125.1  adenine DNA glycosylase isoform 8

      See identical proteins and their annotated locations for NP_001280125.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (gamma4) contains a distinct 5' UTR, and uses an alternate splice site in the 5' region, which results in translation initiation at a downstream AUG start codon, compared to variant alpha5. The resulting isoform (8) has a shorter N-terminus, compared to isoform 5. Variants alpha4 and gamma4 encode the same isoform 8.
      Source sequence(s)
      AB032929, AL359540, BI818560, HY094590
      UniProtKB/TrEMBL
      Q5T418
      Conserved Domains (4) summary
      TIGR01084
      Location:3305
      mutY; A/G-specific adenine glycosylase
      smart00525
      Location:169189
      FES; iron-sulpphur binding domain in DNA-(apurinic or apyrimidinic site) lyase (subfamily of ENDO3)
      cd00056
      Location:8166
      ENDO3c; endonuclease III; includes endonuclease III (DNA-(apurinic or apyrimidinic site) lyase), alkylbase DNA glycosidases (Alka-family) and other DNA glycosidases
      cd03431
      Location:248377
      DNA_Glycosylase_C; DNA glycosylase (MutY in bacteria and hMYH in humans) is responsible for repairing misread A*oxoG residues to C*G by removing the inappropriately paired adenine base from the DNA backbone. It belongs to the Nudix hydrolase superfamily and is important ...
    11. NM_001350650.2NP_001337579.1  adenine DNA glycosylase isoform 9

      Status: REVIEWED

      Source sequence(s)
      BC003178, BM926983
      UniProtKB/TrEMBL
      Q5T418
      Conserved Domains (1) summary
      COG1194
      Location:10351
      MutY; Adenine-specific DNA glycosylase, acts on AG and A-oxoG pairs [Replication, recombination and repair]
    12. NM_001350651.2NP_001337580.1  adenine DNA glycosylase isoform 9

      Status: REVIEWED

      Source sequence(s)
      BC003178, BM926983
      UniProtKB/TrEMBL
      Q5T418
      Conserved Domains (1) summary
      COG1194
      Location:10351
      MutY; Adenine-specific DNA glycosylase, acts on AG and A-oxoG pairs [Replication, recombination and repair]
    13. NM_001407069.1NP_001393998.1  adenine DNA glycosylase isoform 17

      Status: REVIEWED

      Source sequence(s)
      AL359540
    14. NM_001407070.1NP_001393999.1  adenine DNA glycosylase isoform 2

      Status: REVIEWED

      Source sequence(s)
      AL359540
    15. NM_001407071.1NP_001394000.1  adenine DNA glycosylase isoform 3

      Status: REVIEWED

      Source sequence(s)
      AL359540
      UniProtKB/TrEMBL
      E5KP28
    16. NM_001407072.1NP_001394001.1  adenine DNA glycosylase isoform 2

      Status: REVIEWED

      Source sequence(s)
      AL359540
    17. NM_001407073.1NP_001394002.1  adenine DNA glycosylase isoform 18

      Status: REVIEWED

      Source sequence(s)
      AL359540
    18. NM_001407075.1NP_001394004.1  adenine DNA glycosylase isoform 16

      Status: REVIEWED

      Source sequence(s)
      AL359540
    19. NM_001407077.1NP_001394006.1  adenine DNA glycosylase isoform 7

      Status: REVIEWED

      Source sequence(s)
      AL359540
      Related
      ENSP00000403655.2, ENST00000435155.2
    20. NM_001407078.1NP_001394007.1  adenine DNA glycosylase isoform 3

      Status: REVIEWED

      Source sequence(s)
      AL359540
      UniProtKB/TrEMBL
      E5KP28
    21. NM_001407079.1NP_001394008.1  adenine DNA glycosylase isoform 14

      Status: REVIEWED

      Source sequence(s)
      AL359540
    22. NM_001407080.1NP_001394009.1  adenine DNA glycosylase isoform 15

      Status: REVIEWED

      Source sequence(s)
      AL359540
    23. NM_001407081.1NP_001394010.1  adenine DNA glycosylase isoform 2

      Status: REVIEWED

      Source sequence(s)
      AL359540
    24. NM_001407082.1NP_001394011.1  adenine DNA glycosylase isoform 9

      Status: REVIEWED

      Source sequence(s)
      AL359540
    25. NM_001407083.1NP_001394012.1  adenine DNA glycosylase isoform 10

      Status: REVIEWED

      Source sequence(s)
      AL359540
      UniProtKB/TrEMBL
      E9PM53
    26. NM_001407085.1NP_001394014.1  adenine DNA glycosylase isoform 10

      Status: REVIEWED

      Source sequence(s)
      AL359540
      Consensus CDS
      CCDS90938.1
      UniProtKB/TrEMBL
      E9PM53
      Related
      ENSP00000433130.2, ENST00000528013.6
    27. NM_001407086.1NP_001394015.1  adenine DNA glycosylase isoform 3

      Status: REVIEWED

      Source sequence(s)
      AL359540
      Consensus CDS
      CCDS41321.1
      UniProtKB/TrEMBL
      E5KP28
    28. NM_001407087.1NP_001394016.1  adenine DNA glycosylase isoform 12

      Status: REVIEWED

      Source sequence(s)
      AL359540
    29. NM_001407088.1NP_001394017.1  adenine DNA glycosylase isoform 2

      Status: REVIEWED

      Source sequence(s)
      AL359540
    30. NM_001407089.1NP_001394018.1  adenine DNA glycosylase isoform 2

      Status: REVIEWED

      Source sequence(s)
      AL359540
    31. NM_001407091.1NP_001394020.1  adenine DNA glycosylase isoform 8

      Status: REVIEWED

      Source sequence(s)
      AL359540
    32. NM_012222.3NP_036354.1  adenine DNA glycosylase isoform 1

      See identical proteins and their annotated locations for NP_036354.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (alpha1) uses an alternate in-frame splice site in the 5' coding region, compared to variant alpha5. This difference results in a protein (isoform 1) that is shorter than isoform 5.
      Source sequence(s)
      AB032920, BM926983
      Consensus CDS
      CCDS520.1
      UniProtKB/Swiss-Prot
      D3DPZ4, Q15830, Q9UBP2, Q9UBS7, Q9UIF4, Q9UIF5, Q9UIF6, Q9UIF7
      UniProtKB/TrEMBL
      E5KP26, E5KP31
      Related
      ENSP00000500891.1, ENST00000672818.3
      Conserved Domains (4) summary
      smart00525
      Location:286306
      FES; iron-sulpphur binding domain in DNA-(apurinic or apyrimidinic site) lyase (subfamily of ENDO3)
      COG1194
      Location:89491
      MutY; Adenine-specific DNA glycosylase, acts on AG and A-oxoG pairs [Replication, recombination and repair]
      cd00056
      Location:125283
      ENDO3c; endonuclease III; includes endonuclease III (DNA-(apurinic or apyrimidinic site) lyase), alkylbase DNA glycosidases (Alka-family) and other DNA glycosidases
      cd03431
      Location:365494
      DNA_Glycosylase_C; DNA glycosylase (MutY in bacteria and hMYH in humans) is responsible for repairing misread A*oxoG residues to C*G by removing the inappropriately paired adenine base from the DNA backbone. It belongs to the Nudix hydrolase superfamily and is important ...

    RNA

    1. NR_146882.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      BC003178, BM679345, BM926983
    2. NR_146883.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL359540, BC003178, BM679345, CN413115
    3. NR_176269.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL359540
    4. NR_176271.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL359540
      Related
      ENST00000475516.5
    5. NR_176272.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL359540
      Related
      ENST00000485271.6
    6. NR_176273.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL359540
    7. NR_176274.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL359540
      Related
      ENST00000481571.5

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      45329242..45340440 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017001332.2XP_016856821.1  adenine DNA glycosylase isoform X3

      UniProtKB/TrEMBL
      E5KP33, E9PM53
      Conserved Domains (4) summary
      smart00525
      Location:275295
      FES; iron-sulpphur binding domain in DNA-(apurinic or apyrimidinic site) lyase (subfamily of ENDO3)
      COG1194
      Location:78480
      MutY; Adenine-specific DNA glycosylase, acts on AG and A-oxoG pairs [Replication, recombination and repair]
      cd00056
      Location:114272
      ENDO3c; endonuclease III; includes endonuclease III (DNA-(apurinic or apyrimidinic site) lyase), alkylbase DNA glycosidases (Alka-family) and other DNA glycosidases
      cd03431
      Location:354483
      DNA_Glycosylase_C; DNA glycosylase (MutY in bacteria and hMYH in humans) is responsible for repairing misread A*oxoG residues to C*G by removing the inappropriately paired adenine base from the DNA backbone. It belongs to the Nudix hydrolase superfamily and is important ...
    2. XM_011541503.3XP_011539805.1  adenine DNA glycosylase isoform X4

      UniProtKB/TrEMBL
      E5KP30
      Conserved Domains (4) summary
      smart00525
      Location:275295
      FES; iron-sulpphur binding domain in DNA-(apurinic or apyrimidinic site) lyase (subfamily of ENDO3)
      COG1194
      Location:92480
      MutY; Adenine-specific DNA glycosylase, acts on AG and A-oxoG pairs [Replication, recombination and repair]
      cd00056
      Location:128272
      ENDO3c; endonuclease III; includes endonuclease III (DNA-(apurinic or apyrimidinic site) lyase), alkylbase DNA glycosidases (Alka-family) and other DNA glycosidases
      cd03431
      Location:354483
      DNA_Glycosylase_C; DNA glycosylase (MutY in bacteria and hMYH in humans) is responsible for repairing misread A*oxoG residues to C*G by removing the inappropriately paired adenine base from the DNA backbone. It belongs to the Nudix hydrolase superfamily and is important ...
    3. XM_047421194.1XP_047277150.1  adenine DNA glycosylase isoform X3

      UniProtKB/TrEMBL
      E9PM53
    4. XM_047421199.1XP_047277155.1  adenine DNA glycosylase isoform X6

    5. XM_047421191.1XP_047277147.1  adenine DNA glycosylase isoform X2

    6. XM_047421201.1XP_047277157.1  adenine DNA glycosylase isoform X7

    7. XM_017001333.2XP_016856822.1  adenine DNA glycosylase isoform X3

      UniProtKB/TrEMBL
      E5KP33, E9PM53
      Conserved Domains (4) summary
      smart00525
      Location:275295
      FES; iron-sulpphur binding domain in DNA-(apurinic or apyrimidinic site) lyase (subfamily of ENDO3)
      COG1194
      Location:78480
      MutY; Adenine-specific DNA glycosylase, acts on AG and A-oxoG pairs [Replication, recombination and repair]
      cd00056
      Location:114272
      ENDO3c; endonuclease III; includes endonuclease III (DNA-(apurinic or apyrimidinic site) lyase), alkylbase DNA glycosidases (Alka-family) and other DNA glycosidases
      cd03431
      Location:354483
      DNA_Glycosylase_C; DNA glycosylase (MutY in bacteria and hMYH in humans) is responsible for repairing misread A*oxoG residues to C*G by removing the inappropriately paired adenine base from the DNA backbone. It belongs to the Nudix hydrolase superfamily and is important ...
    8. XM_047421198.1XP_047277154.1  adenine DNA glycosylase isoform X5

      UniProtKB/TrEMBL
      E9PP34
      Related
      ENSP00000436469.2, ENST00000483127.2
    9. XM_047421192.1XP_047277148.1  adenine DNA glycosylase isoform X2

    10. XM_011541502.3XP_011539804.1  adenine DNA glycosylase isoform X3

      See identical proteins and their annotated locations for XP_011539804.1

      UniProtKB/TrEMBL
      E5KP33, E9PM53
      Conserved Domains (4) summary
      smart00525
      Location:275295
      FES; iron-sulpphur binding domain in DNA-(apurinic or apyrimidinic site) lyase (subfamily of ENDO3)
      COG1194
      Location:78480
      MutY; Adenine-specific DNA glycosylase, acts on AG and A-oxoG pairs [Replication, recombination and repair]
      cd00056
      Location:114272
      ENDO3c; endonuclease III; includes endonuclease III (DNA-(apurinic or apyrimidinic site) lyase), alkylbase DNA glycosidases (Alka-family) and other DNA glycosidases
      cd03431
      Location:354483
      DNA_Glycosylase_C; DNA glycosylase (MutY in bacteria and hMYH in humans) is responsible for repairing misread A*oxoG residues to C*G by removing the inappropriately paired adenine base from the DNA backbone. It belongs to the Nudix hydrolase superfamily and is important ...
    11. XM_047421193.1XP_047277149.1  adenine DNA glycosylase isoform X2

    12. XM_047421197.1XP_047277153.1  adenine DNA glycosylase isoform X5

      UniProtKB/TrEMBL
      E9PP34
    13. XM_011541497.4XP_011539799.1  adenine DNA glycosylase isoform X1

      UniProtKB/TrEMBL
      E5KP30
      Conserved Domains (4) summary
      smart00525
      Location:281301
      FES; iron-sulpphur binding domain in DNA-(apurinic or apyrimidinic site) lyase (subfamily of ENDO3)
      COG1194
      Location:84486
      MutY; Adenine-specific DNA glycosylase, acts on AG and A-oxoG pairs [Replication, recombination and repair]
      cd00056
      Location:120278
      ENDO3c; endonuclease III; includes endonuclease III (DNA-(apurinic or apyrimidinic site) lyase), alkylbase DNA glycosidases (Alka-family) and other DNA glycosidases
      cd03431
      Location:360489
      DNA_Glycosylase_C; DNA glycosylase (MutY in bacteria and hMYH in humans) is responsible for repairing misread A*oxoG residues to C*G by removing the inappropriately paired adenine base from the DNA backbone. It belongs to the Nudix hydrolase superfamily and is important ...
    14. XM_047421203.1XP_047277159.1  adenine DNA glycosylase isoform X9

      Related
      ENSP00000410263.2, ENST00000412971.6
    15. XM_047421204.1XP_047277160.1  adenine DNA glycosylase isoform X10

    16. XM_047421202.1XP_047277158.1  adenine DNA glycosylase isoform X8

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      45200799..45211997 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054336725.1XP_054192700.1  adenine DNA glycosylase isoform X4

    2. XM_054336722.1XP_054192697.1  adenine DNA glycosylase isoform X3

    3. XM_054336721.1XP_054192696.1  adenine DNA glycosylase isoform X3

    4. XM_054336727.1XP_054192702.1  adenine DNA glycosylase isoform X6

    5. XM_054336718.1XP_054192693.1  adenine DNA glycosylase isoform X2

    6. XM_054336728.1XP_054192703.1  adenine DNA glycosylase isoform X7

    7. XM_054336723.1XP_054192698.1  adenine DNA glycosylase isoform X3

    8. XM_054336726.1XP_054192701.1  adenine DNA glycosylase isoform X5

    9. XM_054336720.1XP_054192695.1  adenine DNA glycosylase isoform X2

    10. XM_054336724.1XP_054192699.1  adenine DNA glycosylase isoform X3

    11. XM_054336719.1XP_054192694.1  adenine DNA glycosylase isoform X2

    12. XM_054336717.1XP_054192692.1  adenine DNA glycosylase isoform X1

    13. XM_054336730.1XP_054192705.1  adenine DNA glycosylase isoform X9

    14. XM_054336731.1XP_054192706.1  adenine DNA glycosylase isoform X10

    15. XM_054336729.1XP_054192704.1  adenine DNA glycosylase isoform X8