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    MUTYH mutY DNA glycosylase [ Homo sapiens (human) ]

    Gene ID: 4595, updated on 3-Dec-2017
    Official Symbol
    MUTYHprovided by HGNC
    Official Full Name
    mutY DNA glycosylaseprovided by HGNC
    Primary source
    HGNC:HGNC:7527
    See related
    Ensembl:ENSG00000132781 MIM:604933; Vega:OTTHUMG00000007682
    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
    Location:
    1p34.1
    Exon count:
    23
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 1 NC_000001.11 (45329242..45340925, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (45794914..45806142, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378691 Neighboring gene long intergenic non-protein coding RNA 1144 Neighboring gene 4-hydroxyphenylpyruvate dioxygenase like Neighboring gene target of EGR1, exonuclease Neighboring gene testis-specific kinase 2 Neighboring gene coiled-coil domain containing 163

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    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
    MYH-associated polyposis
    MedGen: C1837991 OMIM: 608456 GeneReviews: MUTYH-Associated Polyposis
    Compare labs
    Neoplasm of stomach
    MedGen: C0038356 OMIM: 613659 GeneReviews: Not available
    Compare labs
    Pilomatrixoma
    MedGen: C0206711 OMIM: 132600 GeneReviews: Not available
    Compare labs
    • Base Excision Repair, organism-specific biosystem (from REACTOME)
      Base Excision Repair, organism-specific biosystemOf the three major pathways involved in the repair of nucleotide damage in DNA, base excision repair (BER) involves the greatest number of individual enzymatic activities. This is the consequence of ...
    • Base excision repair, organism-specific biosystem (from KEGG)
      Base excision repair, organism-specific biosystemBase excision repair (BER) is the predominant DNA damage repair pathway for the processing of small base lesions, derived from oxidation and alkylation damages. BER is normally defined as DNA repair ...
    • Base excision repair, conserved biosystem (from KEGG)
      Base excision repair, conserved biosystemBase excision repair (BER) is the predominant DNA damage repair pathway for the processing of small base lesions, derived from oxidation and alkylation damages. BER is normally defined as DNA repair ...
    • Base-Excision Repair, AP Site Formation, organism-specific biosystem (from REACTOME)
      Base-Excision Repair, AP Site Formation, organism-specific biosystemBase excision repair is initiated by DNA glycosylases that hydrolytically cleave the base-deoxyribose glycosyl bond of a damaged nucleotide residue, releasing the damaged base (Lindahl and Wood 1999,...
    • Cleavage of the damaged purine, organism-specific biosystem (from REACTOME)
      Cleavage of the damaged purine, organism-specific biosystemDamaged purines are cleaved from the sugar-phosphate backbone by purine-specific glycosylases (Saparbaev and Laval 1994, Lindahl and Wood 1999).
    • DNA Repair, organism-specific biosystem (from REACTOME)
      DNA Repair, organism-specific biosystemDNA repair is a phenomenal multi-enzyme, multi-pathway system required to ensure the integrity of the cellular genome. Living organisms are constantly exposed to harmful metabolic by-products, enviro...
    • Depurination, organism-specific biosystem (from REACTOME)
      Depurination, organism-specific biosystemDepurination of a damaged nucleotide is mediated by a purine-specific DNA glycosylase. The glycosylase cleaves the N-C1' glycosidic bond between the damaged DNA base and the deoxyribose sugar, genera...
    • Displacement of DNA glycosylase by APEX1, organism-specific biosystem (from REACTOME)
      Displacement of DNA glycosylase by APEX1, organism-specific biosystemFollowing cleavage of the damaged base, DNA glycosylase is displaced by APEX1, an AP endonuclease (Parikh et al. 1998).
    • Recognition and association of DNA glycosylase with site containing an affected purine, organism-specific biosystem (from REACTOME)
      Recognition and association of DNA glycosylase with site containing an affected purine, organism-specific biosystemThe recognition and removal of an altered base by a DNA glycosylase is thought to involve the diffusion of the enzyme along the minor grove of the DNA molecule. The enzyme presumably compresses the ...
    • Resolution of Abasic Sites (AP sites), organism-specific biosystem (from REACTOME)
      Resolution of Abasic Sites (AP sites), organism-specific biosystemResolution of AP sites can occur through the single nucleotide replacement pathway or through the multiple nucleotide patch replacement pathway, also known as the long-patch base excision repair (BER...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • MGC4416

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    4 iron, 4 sulfur cluster binding IEA
    Inferred from Electronic Annotation
    more info
     
    DNA N-glycosylase activity TAS
    Traceable Author Statement
    more info
     
    DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    NOT MutLalpha complex binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    NOT MutLbeta complex binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    MutSalpha complex binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    NOT MutSbeta complex binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    purine-specific mismatch base pair DNA N-glycosylase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Process Evidence Code Pubs
    DNA repair TAS
    Traceable Author Statement
    more info
    PubMed 
    depurination TAS
    Traceable Author Statement
    more info
     
    mismatch repair TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    mitochondrion IEA
    Inferred from Electronic Annotation
    more info
     
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
     
    Preferred Names
    adenine DNA glycosylase
    Names
    A/G-specific adenine DNA glycosylase
    mutY homolog
    mutY-like protein
    NP_001041636.1
    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_036354.1
    XP_011539799.1
    XP_011539800.1
    XP_011539801.1
    XP_011539802.1
    XP_011539803.1
    XP_011539804.1
    XP_011539805.1
    XP_011539806.1
    XP_011539807.1
    XP_011539808.1
    XP_011539809.2
    XP_016856820.1
    XP_016856821.1
    XP_016856822.1
    XP_016856823.1
    XP_016856824.1
    XP_016856825.1
    XP_016856826.1
    XP_016856827.1
    XP_016856828.1

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_008189.1 RefSeqGene

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

    mRNA and Protein(s)

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

      See identical proteins and their annotated locations for NP_001041636.1

      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)
      BC003178, BM926983
      Consensus CDS
      CCDS41320.1
      UniProtKB/Swiss-Prot
      Q9UIF7
      UniProtKB/TrEMBL
      E5KP27
      Related
      ENSP00000361187.3, OTTHUMP00000009096, ENST00000372115.7, OTTHUMT00000020528
      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. NM_001048172.1NP_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, CN413115
      Consensus CDS
      CCDS41321.1
      UniProtKB/Swiss-Prot
      Q9UIF7
      UniProtKB/TrEMBL
      E5KP28
      Related
      ENSP00000346354.6, OTTHUMP00000009101, ENST00000354383.10, OTTHUMT00000020534
      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_001048173.1NP_001041638.1  adenine DNA glycosylase isoform 4

      See identical proteins and their annotated locations for NP_001041638.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (gamma3) 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 4) that is shorter than isoform 5. Variants beta3, gamma3 and beta5 encode the same isoform 4, which has been shown to localize to the nucleus.
      Source sequence(s)
      AB032928, CN413115
      Consensus CDS
      CCDS41322.1
      UniProtKB/Swiss-Prot
      Q9UIF7
      Related
      ENSP00000347685.2, OTTHUMP00000009102, ENST00000355498.6, OTTHUMT00000020535
      Conserved Domains (4) summary
      smart00525
      Location:261281
      FES; iron-sulpphur binding domain in DNA-(apurinic or apyrimidinic site) lyase (subfamily of ENDO3)
      COG1194
      Location:64466
      MutY; Adenine-specific DNA glycosylase, acts on AG and A-oxoG pairs [Replication, recombination and repair]
      cd00056
      Location:100258
      ENDO3c; endonuclease III; includes endonuclease III (DNA-(apurinic or apyrimidinic site) lyase), alkylbase DNA glycosidases (Alka-family) and other DNA glycosidases
      cd03431
      Location:340469
      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 ...
    4. NM_001048174.1NP_001041639.1  adenine DNA glycosylase isoform 4

      See identical proteins and their annotated locations for NP_001041639.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (beta3), also known as type 2, 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 4) that is shorter than isoform 5. Variants beta3, gamma3 and beta5 encode the same isoform 4, which has been shown to localize to the nucleus.
      Source sequence(s)
      AB032925, AL560568
      Consensus CDS
      CCDS41322.1
      UniProtKB/Swiss-Prot
      Q9UIF7
      Related
      ENSP00000407590.2, OTTHUMP00000009099, ENST00000456914.6, OTTHUMT00000020532
      Conserved Domains (4) summary
      smart00525
      Location:261281
      FES; iron-sulpphur binding domain in DNA-(apurinic or apyrimidinic site) lyase (subfamily of ENDO3)
      COG1194
      Location:64466
      MutY; Adenine-specific DNA glycosylase, acts on AG and A-oxoG pairs [Replication, recombination and repair]
      cd00056
      Location:100258
      ENDO3c; endonuclease III; includes endonuclease III (DNA-(apurinic or apyrimidinic site) lyase), alkylbase DNA glycosidases (Alka-family) and other DNA glycosidases
      cd03431
      Location:340469
      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 ...
    5. NM_001128425.1NP_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/Swiss-Prot
      Q9UIF7
      UniProtKB/TrEMBL
      E5KP25
      Related
      ENSP00000408176.1, ENST00000450313.5
      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_001293190.1NP_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/Swiss-Prot
      Q9UIF7
      Related
      ENSP00000361182.3, OTTHUMP00000009103, ENST00000372110.7, OTTHUMT00000020537
      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_001293191.1NP_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, AL560568
      Consensus CDS
      CCDS72776.1
      UniProtKB/Swiss-Prot
      Q9UIF7
      Related
      ENSP00000409718.1, OTTHUMP00000009100, ENST00000448481.5, OTTHUMT00000020533
      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_001293192.1NP_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/Swiss-Prot
      Q9UIF7
      UniProtKB/TrEMBL
      D3DPZ6
      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_001293195.1NP_001280124.1  adenine DNA glycosylase isoform 4

      See identical proteins and their annotated locations for NP_001280124.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (beta5) 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 (4) has a shorter N-terminus and lacks an internal segment, compared to isoform 5. Variants beta3, gamma3 and beta5 encode the same isoform 4, which has been shown to localize to the nucleus.
      Source sequence(s)
      AB032926, AL560568
      Consensus CDS
      CCDS41322.1
      UniProtKB/Swiss-Prot
      Q9UIF7
      Related
      ENSP00000361176.1, OTTHUMP00000009098, ENST00000372104.5, OTTHUMT00000020531
      Conserved Domains (4) summary
      smart00525
      Location:261281
      FES; iron-sulpphur binding domain in DNA-(apurinic or apyrimidinic site) lyase (subfamily of ENDO3)
      COG1194
      Location:64466
      MutY; Adenine-specific DNA glycosylase, acts on AG and A-oxoG pairs [Replication, recombination and repair]
      cd00056
      Location:100258
      ENDO3c; endonuclease III; includes endonuclease III (DNA-(apurinic or apyrimidinic site) lyase), alkylbase DNA glycosidases (Alka-family) and other DNA glycosidases
      cd03431
      Location:340469
      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 ...
    10. NM_001293196.1NP_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, BI818560, HY094590
      UniProtKB/Swiss-Prot
      Q9UIF7
      UniProtKB/TrEMBL
      D3DPZ6
      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_001350650.1NP_001337579.1  adenine DNA glycosylase isoform 9

      Status: REVIEWED

      Source sequence(s)
      BC003178, BM926983
      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_001350651.1NP_001337580.1  adenine DNA glycosylase isoform 9

      Status: REVIEWED

      Source sequence(s)
      BC003178, BM926983
      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_012222.2NP_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
      Q9UIF7
      UniProtKB/TrEMBL
      E5KP26
      Related
      ENSP00000361170.3, OTTHUMP00000009097, ENST00000372098.7, OTTHUMT00000020529
      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_146882.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      BC003178, BM679345, BM926983
    2. NR_146883.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      BC003178, BM679345, CN413115

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p7 Primary Assembly

      Range
      45329242..45340925 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017001338.1XP_016856827.1  adenine DNA glycosylase isoform X7

      Conserved Domains (1) summary
      COG1194
      Location:10351
      MutY; Adenine-specific DNA glycosylase, acts on AG and A-oxoG pairs [Replication, recombination and repair]
    2. XM_017001339.1XP_016856828.1  adenine DNA glycosylase isoform X7

      Conserved Domains (1) summary
      COG1194
      Location:10351
      MutY; Adenine-specific DNA glycosylase, acts on AG and A-oxoG pairs [Replication, recombination and repair]
    3. XM_017001336.1XP_016856825.1  adenine DNA glycosylase isoform X7

      Conserved Domains (1) summary
      COG1194
      Location:10351
      MutY; Adenine-specific DNA glycosylase, acts on AG and A-oxoG pairs [Replication, recombination and repair]
    4. XM_011541505.2XP_011539807.1  adenine DNA glycosylase isoform X8

      See identical proteins and their annotated locations for XP_011539807.1

      Conserved Domains (4) summary
      smart00525
      Location:135155
      FES; iron-sulpphur binding domain in DNA-(apurinic or apyrimidinic site) lyase (subfamily of ENDO3)
      smart00478
      Location:11134
      ENDO3c; endonuclease III
      COG1194
      Location:15340
      MutY; Adenine-specific DNA glycosylase, acts on AG and A-oxoG pairs [Replication, recombination and repair]
      cd03431
      Location:214343
      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 ...
    5. XM_011541503.2XP_011539805.1  adenine DNA glycosylase isoform X3

      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 ...
    6. XM_017001332.1XP_016856821.1  adenine DNA glycosylase isoform X2

      UniProtKB/TrEMBL
      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 ...
    7. XM_017001335.1XP_016856824.1  adenine DNA glycosylase isoform X6

      UniProtKB/Swiss-Prot
      Q9UIF7
      UniProtKB/TrEMBL
      D3DPZ6
      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 ...
    8. XM_017001331.1XP_016856820.1  adenine DNA glycosylase isoform X2

      UniProtKB/TrEMBL
      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 ...
    9. XM_011541504.2XP_011539806.1  adenine DNA glycosylase isoform X4

      See identical proteins and their annotated locations for XP_011539806.1

      UniProtKB/Swiss-Prot
      Q9UIF7
      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 ...
    10. XM_011541506.1XP_011539808.1  adenine DNA glycosylase isoform X8

      See identical proteins and their annotated locations for XP_011539808.1

      Conserved Domains (4) summary
      smart00525
      Location:135155
      FES; iron-sulpphur binding domain in DNA-(apurinic or apyrimidinic site) lyase (subfamily of ENDO3)
      smart00478
      Location:11134
      ENDO3c; endonuclease III
      COG1194
      Location:15340
      MutY; Adenine-specific DNA glycosylase, acts on AG and A-oxoG pairs [Replication, recombination and repair]
      cd03431
      Location:214343
      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_017001337.1XP_016856826.1  adenine DNA glycosylase isoform X7

      Conserved Domains (1) summary
      COG1194
      Location:10351
      MutY; Adenine-specific DNA glycosylase, acts on AG and A-oxoG pairs [Replication, recombination and repair]
    12. XM_011541498.1XP_011539800.1  adenine DNA glycosylase isoform X2

      See identical proteins and their annotated locations for XP_011539800.1

      UniProtKB/TrEMBL
      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 ...
    13. XM_017001334.1XP_016856823.1  adenine DNA glycosylase isoform X5

      UniProtKB/Swiss-Prot
      Q9UIF7
      UniProtKB/TrEMBL
      E5KP28
      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 ...
    14. XM_011541499.1XP_011539801.1  adenine DNA glycosylase isoform X2

      See identical proteins and their annotated locations for XP_011539801.1

      UniProtKB/TrEMBL
      E9PM53
      Related
      ENSP00000433130.2, OTTHUMP00000231394, ENST00000528013.6, OTTHUMT00000386828
      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 ...
    15. XM_011541501.2XP_011539803.1  adenine DNA glycosylase isoform X2

      See identical proteins and their annotated locations for XP_011539803.1

      UniProtKB/TrEMBL
      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 ...
    16. XM_011541502.2XP_011539804.1  adenine DNA glycosylase isoform X2

      See identical proteins and their annotated locations for XP_011539804.1

      UniProtKB/TrEMBL
      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 ...
    17. XM_011541500.2XP_011539802.1  adenine DNA glycosylase isoform X2

      See identical proteins and their annotated locations for XP_011539802.1

      UniProtKB/TrEMBL
      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 ...
    18. XM_011541497.2XP_011539799.1  adenine DNA glycosylase isoform X1

      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 ...
    19. XM_017001333.1XP_016856822.1  adenine DNA glycosylase isoform X2

      UniProtKB/TrEMBL
      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 ...
    20. XM_011541507.2XP_011539809.2  adenine DNA glycosylase isoform X9

    RNA

    1. XR_001737189.1 RNA Sequence

    2. XR_001737190.1 RNA Sequence

      Related
      ENST00000481571.5, OTTHUMT00000020530
    3. XR_946658.2 RNA Sequence

    4. XR_001737191.1 RNA Sequence

      Related
      ENST00000475516.5, OTTHUMT00000020536
    5. XR_001737192.1 RNA Sequence

    Alternate CHM1_1.1

    Genomic

    1. NC_018912.2 Alternate CHM1_1.1

      Range
      45911718..45922945 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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