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    MUTYH mutY DNA glycosylase [ Homo sapiens (human) ]

    Gene ID: 4595, updated on 10-Dec-2024

    Summary

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    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
    mouse all
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    Genomic context

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    See MUTYH in Genome Data Viewer
    Location:
    1p34.1
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (45329242..45340440, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (45200799..45211997, complement)
    RS_2024_09 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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Increased MUTYH mutation frequency among Dutch families with breast cancer and colorectal cancer. Wasielewski M, et al. Breast Cancer Res Treat, 2010 Dec. PMID 20191381
    2. AluYb8 insertion in the MUTYH gene is related to increased 8-OHdG in genomic DNA and could be a risk factor for type 2 diabetes in a Chinese population. Chen H, et al. Mol Cell Endocrinol, 2011 Jan 30. PMID 21112374
    3. A large-scale meta-analysis to refine colorectal cancer risk estimates associated with MUTYH variants. Theodoratou E, et al. Br J Cancer, 2010 Dec 7. PMID 21063410, Free PMC Article
    4. Association between monoallelic MUTYH mutation and colorectal cancer risk: a meta-regression analysis. Win AK, et al. Fam Cancer, 2011 Mar. PMID 21061173, Free PMC Article
    5. Survival of MUTYH-associated polyposis patients with colorectal cancer and matched control colorectal cancer patients. Nielsen M, et al. J Natl Cancer Inst, 2010 Nov 17. PMID 21044966, Free PMC Article

    See all (319) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Exploring the Role of the MUTYH Gene in Breast, Ovarian and Endometrial Cancer.
      Title: Exploring the Role of the MUTYH Gene in Breast, Ovarian and Endometrial Cancer.
    2. Multiple colorectal adenomas syndrome: The role of MUTYH mutation and the polyps' number in clinical management and colorectal cancer risk.
      Title: Multiple colorectal adenomas syndrome: The role of MUTYH mutation and the polyps' number in clinical management and colorectal cancer risk.
    3. Pan-Cancer Interrogation of MUTYH Variants Reveals Biallelic Inactivation and Defective Base Excision Repair Across a Spectrum of Solid Tumors.
      Title: Pan-Cancer Interrogation of MUTYH Variants Reveals Biallelic Inactivation and Defective Base Excision Repair Across a Spectrum of Solid Tumors.
    4. Increased KRAS G12C Prevalence, High Tumor Mutational Burden, and Specific Mutational Signatures Are Associated With MUTYH Mutations: A Pan-Cancer Analysis.
      Title: Increased KRAS G12C Prevalence, High Tumor Mutational Burden, and Specific Mutational Signatures Are Associated With MUTYH Mutations: A Pan-Cancer Analysis.
    5. Breast cancers in monoallelic MUTYH germline mutation carriers have clinicopathological features overlapping with those in BRCA1 germline mutation carriers.
      Title: Breast cancers in monoallelic MUTYH germline mutation carriers have clinicopathological features overlapping with those in BRCA1 germline mutation carriers.
    6. A one-stop approach to diagnosing hereditary colorectal cancer in the Chinese population.
      Title: A one-stop approach to diagnosing hereditary colorectal cancer in the Chinese population.
    7. Summary of the experiences, knowledge, medical management, and family communication of monoallelic MUTYH carriers.
      Title: Summary of the experiences, knowledge, medical management, and family communication of monoallelic MUTYH carriers.
    8. Evolutionary Origin of MUTYH Germline Pathogenic Variations in Modern Humans.
      Title: Evolutionary Origin of MUTYH Germline Pathogenic Variations in Modern Humans.
    9. Structural snapshots of base excision by the cancer-associated variant MutY N146S reveal a retaining mechanism.
      Title: Structural snapshots of base excision by the cancer-associated variant MutY N146S reveal a retaining mechanism.
    10. Monoallelic MUTYH pathogenic variants ascertained via multi-gene hereditary cancer panels are not associated with colorectal, endometrial, or breast cancer.
      Title: Monoallelic MUTYH pathogenic variants ascertained via multi-gene hereditary cancer panels are not associated with colorectal, endometrial, or breast cancer.
    Submit: New GeneRIF Correction See all GeneRIFs (255)

    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

    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
    		not available
    Gastric cancer
    MedGen: C0024623 OMIM: 613659 GeneReviews: Not available
    		not available

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    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 HTP PubMed 
    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

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    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)

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    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_001048171.2 → NP_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:64 → 466
      MutY; Adenine-specific DNA glycosylase, acts on AG and A-oxoG pairs [Replication, recombination and repair]

    2. NM_001048172.2 → NP_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:262 → 282
      FES; iron-sulpphur binding domain in DNA-(apurinic or apyrimidinic site) lyase (subfamily of ENDO3)
      COG1194
      Location:65 → 467
      MutY; Adenine-specific DNA glycosylase, acts on AG and A-oxoG pairs [Replication, recombination and repair]
      cd00056
      Location:101 → 259
      ENDO3c; endonuclease III; includes endonuclease III (DNA-(apurinic or apyrimidinic site) lyase), alkylbase DNA glycosidases (Alka-family) and other DNA glycosidases
      cd03431
      Location:341 → 470
      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_001048173.2 → NP_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:64 → 466
      MutY; Adenine-specific DNA glycosylase, acts on AG and A-oxoG pairs [Replication, recombination and repair]

    4. NM_001048174.2 → NP_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:64 → 466
      MutY; Adenine-specific DNA glycosylase, acts on AG and A-oxoG pairs [Replication, recombination and repair]

    5. NM_001128425.2 → NP_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:289 → 309
      FES; iron-sulpphur binding domain in DNA-(apurinic or apyrimidinic site) lyase (subfamily of ENDO3)
      COG1194
      Location:92 → 494
      MutY; Adenine-specific DNA glycosylase, acts on AG and A-oxoG pairs [Replication, recombination and repair]
      cd00056
      Location:128 → 286
      ENDO3c; endonuclease III; includes endonuclease III (DNA-(apurinic or apyrimidinic site) lyase), alkylbase DNA glycosidases (Alka-family) and other DNA glycosidases
      cd03431
      Location:368 → 497
      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_001293190.2 → NP_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:276 → 296
      FES; iron-sulpphur binding domain in DNA-(apurinic or apyrimidinic site) lyase (subfamily of ENDO3)
      COG1194
      Location:79 → 481
      MutY; Adenine-specific DNA glycosylase, acts on AG and A-oxoG pairs [Replication, recombination and repair]
      cd00056
      Location:115 → 273
      ENDO3c; endonuclease III; includes endonuclease III (DNA-(apurinic or apyrimidinic site) lyase), alkylbase DNA glycosidases (Alka-family) and other DNA glycosidases
      cd03431
      Location:355 → 484
      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_001293191.2 → NP_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:272 → 292
      FES; iron-sulpphur binding domain in DNA-(apurinic or apyrimidinic site) lyase (subfamily of ENDO3)
      COG1194
      Location:75 → 477
      MutY; Adenine-specific DNA glycosylase, acts on AG and A-oxoG pairs [Replication, recombination and repair]
      cd00056
      Location:111 → 269
      ENDO3c; endonuclease III; includes endonuclease III (DNA-(apurinic or apyrimidinic site) lyase), alkylbase DNA glycosidases (Alka-family) and other DNA glycosidases
      cd03431
      Location:351 → 480
      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_001293192.2 → NP_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:3 → 305
      mutY; A/G-specific adenine glycosylase
      smart00525
      Location:169 → 189
      FES; iron-sulpphur binding domain in DNA-(apurinic or apyrimidinic site) lyase (subfamily of ENDO3)
      cd00056
      Location:8 → 166
      ENDO3c; endonuclease III; includes endonuclease III (DNA-(apurinic or apyrimidinic site) lyase), alkylbase DNA glycosidases (Alka-family) and other DNA glycosidases
      cd03431
      Location:248 → 377
      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_001293195.2 → NP_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:64 → 466
      MutY; Adenine-specific DNA glycosylase, acts on AG and A-oxoG pairs [Replication, recombination and repair]

    10. NM_001293196.2 → NP_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:3 → 305
      mutY; A/G-specific adenine glycosylase
      smart00525
      Location:169 → 189
      FES; iron-sulpphur binding domain in DNA-(apurinic or apyrimidinic site) lyase (subfamily of ENDO3)
      cd00056
      Location:8 → 166
      ENDO3c; endonuclease III; includes endonuclease III (DNA-(apurinic or apyrimidinic site) lyase), alkylbase DNA glycosidases (Alka-family) and other DNA glycosidases
      cd03431
      Location:248 → 377
      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_001350650.2 → NP_001337579.1  adenine DNA glycosylase isoform 9

      Status: REVIEWED

      Source sequence(s)
      BC003178, BM926983
      UniProtKB/TrEMBL
      Q5T418
      Conserved Domains (1) summary
      COG1194
      Location:10 → 351
      MutY; Adenine-specific DNA glycosylase, acts on AG and A-oxoG pairs [Replication, recombination and repair]

    12. NM_001350651.2 → NP_001337580.1  adenine DNA glycosylase isoform 9

      Status: REVIEWED

      Source sequence(s)
      BC003178, BM926983
      UniProtKB/TrEMBL
      Q5T418
      Conserved Domains (1) summary
      COG1194
      Location:10 → 351
      MutY; Adenine-specific DNA glycosylase, acts on AG and A-oxoG pairs [Replication, recombination and repair]

    13. NM_001407069.1 → NP_001393998.1  adenine DNA glycosylase isoform 17

      Status: REVIEWED

      Source sequence(s)
      AL359540
      UniProtKB/TrEMBL
      E5KP31

    14. NM_001407070.1 → NP_001393999.1  adenine DNA glycosylase isoform 2

      Status: REVIEWED

      Source sequence(s)
      AL359540
      UniProtKB/TrEMBL
      E5KP34

    15. NM_001407071.1 → NP_001394000.1  adenine DNA glycosylase isoform 3

      Status: REVIEWED

      Source sequence(s)
      AL359540
      UniProtKB/TrEMBL
      E5KP28, E5KP33

    16. NM_001407072.1 → NP_001394001.1  adenine DNA glycosylase isoform 2

      Status: REVIEWED

      Source sequence(s)
      AL359540
      UniProtKB/TrEMBL
      E5KP34

    17. NM_001407073.1 → NP_001394002.1  adenine DNA glycosylase isoform 18

      Status: REVIEWED

      Source sequence(s)
      AL359540
      UniProtKB/TrEMBL
      E5KP27

    18. NM_001407075.1 → NP_001394004.1  adenine DNA glycosylase isoform 16

      Status: REVIEWED

      Source sequence(s)
      AL359540
      UniProtKB/TrEMBL
      E5KP34

    19. NM_001407077.1 → NP_001394006.1  adenine DNA glycosylase isoform 7

      Status: REVIEWED

      Source sequence(s)
      AL359540
      UniProtKB/TrEMBL
      E5KP33
      Related
      ENSP00000403655.2, ENST00000435155.2

    20. NM_001407078.1 → NP_001394007.1  adenine DNA glycosylase isoform 3

      Status: REVIEWED

      Source sequence(s)
      AL359540
      UniProtKB/TrEMBL
      E5KP28, E5KP33

    21. NM_001407079.1 → NP_001394008.1  adenine DNA glycosylase isoform 14

      Status: REVIEWED

      Source sequence(s)
      AL359540
      UniProtKB/TrEMBL
      E5KP33

    22. NM_001407080.1 → NP_001394009.1  adenine DNA glycosylase isoform 15

      Status: REVIEWED

      Source sequence(s)
      AL359540
      UniProtKB/TrEMBL
      E5KP34

    23. NM_001407081.1 → NP_001394010.1  adenine DNA glycosylase isoform 2

      Status: REVIEWED

      Source sequence(s)
      AL359540
      UniProtKB/TrEMBL
      E5KP34

    24. NM_001407082.1 → NP_001394011.1  adenine DNA glycosylase isoform 9

      Status: REVIEWED

      Source sequence(s)
      AL359540
      UniProtKB/TrEMBL
      Q5T418

    25. NM_001407083.1 → NP_001394012.1  adenine DNA glycosylase isoform 10

      Status: REVIEWED

      Source sequence(s)
      AL359540
      UniProtKB/TrEMBL
      E5KP33, E9PM53

    26. NM_001407085.1 → NP_001394014.1  adenine DNA glycosylase isoform 10

      Status: REVIEWED

      Source sequence(s)
      AL359540
      Consensus CDS
      CCDS90938.1
      UniProtKB/TrEMBL
      E5KP33, E9PM53
      Related
      ENSP00000433130.2, ENST00000528013.6

    27. NM_001407086.1 → NP_001394015.1  adenine DNA glycosylase isoform 3

      Status: REVIEWED

      Source sequence(s)
      AL359540
      Consensus CDS
      CCDS41321.1
      UniProtKB/TrEMBL
      E5KP28, E5KP33

    28. NM_001407087.1 → NP_001394016.1  adenine DNA glycosylase isoform 12

      Status: REVIEWED

      Source sequence(s)
      AL359540
      UniProtKB/TrEMBL
      A0AAQ5BGW7, E5KP33
      Related
      ENSP00000519052.1, ENST00000713751.1

    29. NM_001407088.1 → NP_001394017.1  adenine DNA glycosylase isoform 2

      Status: REVIEWED

      Source sequence(s)
      AL359540
      UniProtKB/TrEMBL
      E5KP34
      Related
      ENSP00000519051.1, ENST00000713750.1

    30. NM_001407089.1 → NP_001394018.1  adenine DNA glycosylase isoform 2

      Status: REVIEWED

      Source sequence(s)
      AL359540
      UniProtKB/TrEMBL
      E5KP34

    31. NM_001407091.1 → NP_001394020.1  adenine DNA glycosylase isoform 8

      Status: REVIEWED

      Source sequence(s)
      AL359540
      UniProtKB/TrEMBL
      Q5T418

    32. NM_012222.3 → NP_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:286 → 306
      FES; iron-sulpphur binding domain in DNA-(apurinic or apyrimidinic site) lyase (subfamily of ENDO3)
      COG1194
      Location:89 → 491
      MutY; Adenine-specific DNA glycosylase, acts on AG and A-oxoG pairs [Replication, recombination and repair]
      cd00056
      Location:125 → 283
      ENDO3c; endonuclease III; includes endonuclease III (DNA-(apurinic or apyrimidinic site) lyase), alkylbase DNA glycosidases (Alka-family) and other DNA glycosidases
      cd03431
      Location:365 → 494
      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_2024_08

    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_017001332.2 → XP_016856821.1  adenine DNA glycosylase isoform X3

      UniProtKB/TrEMBL
      E5KP33, E9PM53
      Conserved Domains (4) summary
      smart00525
      Location:275 → 295
      FES; iron-sulpphur binding domain in DNA-(apurinic or apyrimidinic site) lyase (subfamily of ENDO3)
      COG1194
      Location:78 → 480
      MutY; Adenine-specific DNA glycosylase, acts on AG and A-oxoG pairs [Replication, recombination and repair]
      cd00056
      Location:114 → 272
      ENDO3c; endonuclease III; includes endonuclease III (DNA-(apurinic or apyrimidinic site) lyase), alkylbase DNA glycosidases (Alka-family) and other DNA glycosidases
      cd03431
      Location:354 → 483
      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_011541503.3 → XP_011539805.1  adenine DNA glycosylase isoform X4

      UniProtKB/TrEMBL
      E5KP30
      Conserved Domains (4) summary
      smart00525
      Location:275 → 295
      FES; iron-sulpphur binding domain in DNA-(apurinic or apyrimidinic site) lyase (subfamily of ENDO3)
      COG1194
      Location:92 → 480
      MutY; Adenine-specific DNA glycosylase, acts on AG and A-oxoG pairs [Replication, recombination and repair]
      cd00056
      Location:128 → 272
      ENDO3c; endonuclease III; includes endonuclease III (DNA-(apurinic or apyrimidinic site) lyase), alkylbase DNA glycosidases (Alka-family) and other DNA glycosidases
      cd03431
      Location:354 → 483
      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_047421194.1 → XP_047277150.1  adenine DNA glycosylase isoform X3

      UniProtKB/TrEMBL
      E5KP33, E9PM53

    4. XM_047421199.1 → XP_047277155.1  adenine DNA glycosylase isoform X6

      UniProtKB/TrEMBL
      E5KP31

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

      UniProtKB/TrEMBL
      E5KP31

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

      UniProtKB/TrEMBL
      E5KP34

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

      UniProtKB/TrEMBL
      E5KP33, E9PM53
      Conserved Domains (4) summary
      smart00525
      Location:275 → 295
      FES; iron-sulpphur binding domain in DNA-(apurinic or apyrimidinic site) lyase (subfamily of ENDO3)
      COG1194
      Location:78 → 480
      MutY; Adenine-specific DNA glycosylase, acts on AG and A-oxoG pairs [Replication, recombination and repair]
      cd00056
      Location:114 → 272
      ENDO3c; endonuclease III; includes endonuclease III (DNA-(apurinic or apyrimidinic site) lyase), alkylbase DNA glycosidases (Alka-family) and other DNA glycosidases
      cd03431
      Location:354 → 483
      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_047421198.1 → XP_047277154.1  adenine DNA glycosylase isoform X5

      UniProtKB/TrEMBL
      E5KP34, E9PP34
      Related
      ENSP00000436469.2, ENST00000483127.2

    9. XM_047421192.1 → XP_047277148.1  adenine DNA glycosylase isoform X2

      UniProtKB/TrEMBL
      E5KP31

    10. XM_011541502.3 → XP_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:275 → 295
      FES; iron-sulpphur binding domain in DNA-(apurinic or apyrimidinic site) lyase (subfamily of ENDO3)
      COG1194
      Location:78 → 480
      MutY; Adenine-specific DNA glycosylase, acts on AG and A-oxoG pairs [Replication, recombination and repair]
      cd00056
      Location:114 → 272
      ENDO3c; endonuclease III; includes endonuclease III (DNA-(apurinic or apyrimidinic site) lyase), alkylbase DNA glycosidases (Alka-family) and other DNA glycosidases
      cd03431
      Location:354 → 483
      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_047421193.1 → XP_047277149.1  adenine DNA glycosylase isoform X2

      UniProtKB/TrEMBL
      E5KP31

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

      UniProtKB/TrEMBL
      E5KP34, E9PP34

    13. XM_011541497.4 → XP_011539799.1  adenine DNA glycosylase isoform X1

      UniProtKB/TrEMBL
      E5KP30
      Conserved Domains (4) summary
      smart00525
      Location:281 → 301
      FES; iron-sulpphur binding domain in DNA-(apurinic or apyrimidinic site) lyase (subfamily of ENDO3)
      COG1194
      Location:84 → 486
      MutY; Adenine-specific DNA glycosylase, acts on AG and A-oxoG pairs [Replication, recombination and repair]
      cd00056
      Location:120 → 278
      ENDO3c; endonuclease III; includes endonuclease III (DNA-(apurinic or apyrimidinic site) lyase), alkylbase DNA glycosidases (Alka-family) and other DNA glycosidases
      cd03431
      Location:360 → 489
      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_047421203.1 → XP_047277159.1  adenine DNA glycosylase isoform X9

      UniProtKB/TrEMBL
      Q5T418
      Related
      ENSP00000410263.2, ENST00000412971.6

    15. XM_047421204.1 → XP_047277160.1  adenine DNA glycosylase isoform X10

      UniProtKB/TrEMBL
      Q5T418

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

      UniProtKB/TrEMBL
      H0YCA8

    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_054336725.1 → XP_054192700.1  adenine DNA glycosylase isoform X4

      UniProtKB/TrEMBL
      E5KP30

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

      UniProtKB/TrEMBL
      E5KP33

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

      UniProtKB/TrEMBL
      E5KP33

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

      UniProtKB/TrEMBL
      E5KP31

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

      UniProtKB/TrEMBL
      E5KP31

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

      UniProtKB/TrEMBL
      E5KP34

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

      UniProtKB/TrEMBL
      E5KP33

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

      UniProtKB/TrEMBL
      E5KP34

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

      UniProtKB/TrEMBL
      E5KP31

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

      UniProtKB/TrEMBL
      E5KP33

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

      UniProtKB/TrEMBL
      E5KP31

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

      UniProtKB/TrEMBL
      E5KP30

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

      UniProtKB/TrEMBL
      Q5T418

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

      UniProtKB/TrEMBL
      Q5T418

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

      UniProtKB/TrEMBL
      H0YCA8
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9UIF7.1 GenPept UniProtKB/Swiss-Prot:Q9UIF7

    Gene LinkOut

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