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    MUTYH mutY DNA glycosylase [ Homo sapiens (human) ]

    Gene ID: 4595, updated on 5-Aug-2022

    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:
    21
    Annotation release Status Assembly Chr Location
    110 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (45329242..45340440, complement)
    110 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 Sharpr-MPRA regulatory region 12838 Neighboring gene 4-hydroxyphenylpyruvate dioxygenase like Neighboring gene target of EGR1, exonuclease Neighboring gene small nucleolar RNA U13 Neighboring gene testis associated actin remodelling kinase 2 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
    Gastric cancer
    MedGen: C0024623 OMIM: 613659 GeneReviews: Not available
    Compare labs
    MUTYH-related attenuated familial adenomatous polyposis
    MedGen: C3272841 OMIM: 608456 GeneReviews: MUTYH Polyposis
    Compare labs

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    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
    PubMed 
    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
    PubMed 
    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
    PubMed 
    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
    PubMed 
    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
    PubMed 
    involved_in depurination TAS
    Traceable Author Statement
    more info
     
    involved_in mismatch repair IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    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
    PubMed 

    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_036354.1
    XP_011539799.1
    XP_011539801.1
    XP_011539804.1
    XP_011539805.1
    XP_016856821.1
    XP_016856822.1
    XP_016856823.1
    XP_047277147.1
    XP_047277148.1
    XP_047277149.1
    XP_047277150.1
    XP_047277151.1
    XP_047277152.1
    XP_047277153.1
    XP_047277154.1
    XP_047277155.1
    XP_047277156.1
    XP_047277157.1
    XP_047277158.1
    XP_047277159.1
    XP_047277160.1

    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
      CCDS41320.1
      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/Swiss-Prot
      Q9UIF7
      UniProtKB/TrEMBL
      E5KP28
      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/Swiss-Prot
      Q9UIF7
      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/Swiss-Prot
      Q9UIF7
      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/Swiss-Prot
      Q9UIF7
      UniProtKB/TrEMBL
      E5KP25
      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/Swiss-Prot
      Q9UIF7
      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/Swiss-Prot
      Q9UIF7
      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/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_001293195.2NP_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/Swiss-Prot
      Q9UIF7
      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/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_001350650.2NP_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_001350651.2NP_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_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
    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 19

      Status: REVIEWED

      Source sequence(s)
      AL359540
    20. NM_001407078.1NP_001394007.1  adenine DNA glycosylase isoform 3

      Status: REVIEWED

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

      Status: REVIEWED

      Source sequence(s)
      AL359540
    27. NM_001407086.1NP_001394015.1  adenine DNA glycosylase isoform 3

      Status: REVIEWED

      Source sequence(s)
      AL359540
    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
      Q9UIF6, Q9UIF7
      UniProtKB/TrEMBL
      E5KP26
      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
      Related
      ENST00000481571.5
    2. NR_146883.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL359540, BC003178, BM679345, CN413115
      Related
      ENST00000475516.5
    3. NR_176269.1 RNA Sequence

      Status: REVIEWED

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

      Status: REVIEWED

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

      Status: REVIEWED

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

      Status: REVIEWED

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

      Status: REVIEWED

      Source sequence(s)
      AL359540

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

    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
      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_047421200.1XP_047277156.1  adenine DNA glycosylase isoform X10

    3. XM_047421195.1XP_047277151.1  adenine DNA glycosylase isoform X5

    4. XM_011541503.3XP_011539805.1  adenine DNA glycosylase isoform X4

      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 ...
    5. XM_047421194.1XP_047277150.1  adenine DNA glycosylase isoform X3

    6. XM_047421199.1XP_047277155.1  adenine DNA glycosylase isoform X8

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

    8. XM_047421201.1XP_047277157.1  adenine DNA glycosylase isoform X11

    9. XM_017001334.2XP_016856823.1  adenine DNA glycosylase isoform X9

      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 ...
    10. XM_011541499.2XP_011539801.1  adenine DNA glycosylase isoform X3

      UniProtKB/TrEMBL
      E9PM53
      Related
      ENSP00000433130.2, ENST00000528013.6
      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_017001333.2XP_016856822.1  adenine DNA glycosylase isoform X3

      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 ...
    12. XM_047421198.1XP_047277154.1  adenine DNA glycosylase isoform X7

    13. XM_047421196.1XP_047277152.1  adenine DNA glycosylase isoform X6

    14. XM_047421192.1XP_047277148.1  adenine DNA glycosylase isoform X2

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

      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 ...
    16. XM_047421193.1XP_047277149.1  adenine DNA glycosylase isoform X2

    17. XM_047421197.1XP_047277153.1  adenine DNA glycosylase isoform X7

    18. XM_011541497.4XP_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_047421203.1XP_047277159.1  adenine DNA glycosylase isoform X13

    20. XM_047421204.1XP_047277160.1  adenine DNA glycosylase isoform X14

    21. XM_047421202.1XP_047277158.1  adenine DNA glycosylase isoform X12

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

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