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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)