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MUTYH mutY DNA glycosylase [ Homo sapiens (human) ]

Gene ID: 4595, updated on 8-Dec-2018

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
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

Genomic context

See MUTYH in Genome Data Viewer
Location:
1p34.1
Exon count:
22
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (45329242..45340470, 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 associated actin remodelling kinase 2 Neighboring gene coiled-coil domain containing 163

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 FunctionsWhat'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
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

Pathways from BioSystems

  • 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...

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
4 iron, 4 sulfur cluster binding IEA
Inferred from Electronic Annotation
more info
 
8-oxo-7,8-dihydroguanine DNA N-glycosylase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
DNA N-glycosylase activity TAS
Traceable Author Statement
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 
adenine/guanine mispair binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
oxidized purine DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
purine-specific mismatch base pair DNA N-glycosylase activity IBA
Inferred from Biological aspect of Ancestor
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
base-excision repair IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
depurination TAS
Traceable Author Statement
more info
 
mismatch repair IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
mitochondrion IEA
Inferred from Electronic Annotation
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
 

General protein information

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_001337579.1
NP_001337580.1
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_016856820.1
XP_016856821.1
XP_016856822.1
XP_016856823.1
XP_016856824.1
XP_016856825.1
XP_016856826.1
XP_024303012.1
XP_024303013.1
XP_024303016.1
XP_024303017.1
XP_024303018.1
XP_024303019.1

NCBI Reference Sequences (RefSeq)

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, ENST00000372115.7
    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, 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_001048173.1NP_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, ENST00000355498.6
    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, ENST00000456914.6
    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, 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_001293191.1NP_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, 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_001293192.1NP_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, ENST00000372104.5
    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, ENST00000372098.7
    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
    Related
    ENST00000475516.5

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

    Range
    45329242..45340470 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. 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]
  2. 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 ...
  3. XM_024447248.1XP_024303016.1  adenine DNA glycosylase isoform X9

    Conserved Domains (1) summary
    COG1194
    Location:12337
    MutY; Adenine-specific DNA glycosylase, acts on AG and A-oxoG pairs [Replication, recombination and repair]
  4. XM_024447244.1XP_024303012.1  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]
  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_024447249.1XP_024303017.1  adenine DNA glycosylase isoform X10

    Conserved Domains (1) summary
    cl27658
    Location:2294
    HHH; Helix-hairpin-helix motif
  7. 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 ...
  8. 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 ...
  9. XM_024447250.1XP_024303018.1  adenine DNA glycosylase isoform X10

    Conserved Domains (1) summary
    cl27658
    Location:2294
    HHH; Helix-hairpin-helix motif
  10. 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 ...
  11. XM_011541506.2XP_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 ...
  12. 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 ...
  13. XM_024447245.1XP_024303013.1  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]
  14. 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]
  15. 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 ...
  16. XM_024447251.1XP_024303019.1  adenine DNA glycosylase isoform X10

    Conserved Domains (1) summary
    cl27658
    Location:2294
    HHH; Helix-hairpin-helix motif
  17. 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 ...
  18. 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, 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 ...
  19. 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 ...
  20. 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 ...
  21. XM_011541500.3XP_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 ...
  22. XM_011541497.3XP_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 ...
  23. 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 ...

RNA

  1. XR_002956644.1 RNA Sequence

  2. XR_002956643.1 RNA Sequence

  3. XR_001737190.1 RNA Sequence

    Related
    ENST00000481571.5
  4. XR_946658.2 RNA Sequence

  5. XR_001737192.1 RNA Sequence

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