MUTYH mutY DNA glycosylase [Homo sapiens (human)] - Gene

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: mouse all
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Genomic context

Location:: 1p34.1

Exon count:: 22

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (45329242..45340440, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (45200799..45211997, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (45794914..45806112, complement)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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

Submit: New GeneRIF Correction See all GeneRIFs (255)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Professional guidelines

Description
Professional guideline ACMG 2013 The ACMG recommends that laboratories performing clinical sequencing seek and report mutations in MUTYH that are pathogenic or expected to be pathogenic. GuidelinePubMed

Associated conditions

Description	Tests
Familial adenomatous polyposis 2 MedGen: C3272841 OMIM: 608456 GeneReviews: MUTYH Polyposis	Compare labs
Gastric cancer MedGen: C0024623 OMIM: 613659 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables 4 iron, 4 sulfur cluster binding	IEA Inferred from Electronic Annotation more info
enables 8-oxo-7,8-dihydroguanine DNA N-glycosylase activity	IBA Inferred from Biological aspect of Ancestor more info
enables DNA N-glycosylase activity	TAS Traceable Author Statement more info
NOT enables MutLalpha complex binding	IDA Inferred from Direct Assay more info	PubMed
NOT enables MutLbeta complex binding	IDA Inferred from Direct Assay more info	PubMed
enables MutSalpha complex binding	IDA Inferred from Direct Assay more info	PubMed
NOT enables MutSbeta complex binding	IDA Inferred from Direct Assay more info	PubMed
enables adenine/guanine mispair binding	IBA Inferred from Biological aspect of Ancestor more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables oxidized purine DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables purine-specific mismatch base pair DNA N-glycosylase activity	IBA Inferred from Biological aspect of Ancestor more info
enables purine-specific mismatch base pair DNA N-glycosylase activity	IMP Inferred from Mutant Phenotype more info	PubMed

Process	Evidence Code	Pubs
involved_in DNA repair	TAS Traceable Author Statement more info	PubMed
involved_in base-excision repair	IBA Inferred from Biological aspect of Ancestor more info
involved_in depurination	TAS Traceable Author Statement more info
involved_in mismatch repair	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of necroptotic process	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in mitochondrion	HTP more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: adenine DNA glycosylase

Names: A/G-specific adenine DNA glycosylase; mutY homolog; mutY-like protein

NP_001041636.2

EC 3.2.2.31

NP_001041637.1

EC 3.2.2.31

NP_001041638.1

EC 3.2.2.31

NP_001041639.1

EC 3.2.2.31

NP_001121897.1

EC 3.2.2.31

NP_001280119.1

EC 3.2.2.31

NP_001280120.1

EC 3.2.2.31

NP_001280121.1

EC 3.2.2.31

NP_001280124.1

EC 3.2.2.31

NP_001280125.1

EC 3.2.2.31

NP_001337579.1

EC 3.2.2.31

NP_001337580.1

EC 3.2.2.31

NP_001393998.1

EC 3.2.2.31

NP_001393999.1

EC 3.2.2.31

NP_001394000.1

EC 3.2.2.31

NP_001394001.1

EC 3.2.2.31

NP_001394002.1

EC 3.2.2.31

NP_001394004.1

EC 3.2.2.31

NP_001394006.1

EC 3.2.2.31

NP_001394007.1

EC 3.2.2.31

NP_001394008.1

EC 3.2.2.31

NP_001394009.1

EC 3.2.2.31

NP_001394010.1

EC 3.2.2.31

NP_001394011.1

EC 3.2.2.31

NP_001394012.1

EC 3.2.2.31

NP_001394014.1

EC 3.2.2.31

NP_001394015.1

EC 3.2.2.31

NP_001394016.1

EC 3.2.2.31

NP_001394017.1

EC 3.2.2.31

NP_001394018.1

EC 3.2.2.31

NP_001394020.1

EC 3.2.2.31

NP_036354.1

EC 3.2.2.31

XP_011539799.1

EC 3.2.2.31

XP_011539804.1

EC 3.2.2.31

XP_011539805.1

EC 3.2.2.31

XP_016856821.1

EC 3.2.2.31

XP_016856822.1

EC 3.2.2.31

XP_047277147.1

EC 3.2.2.31

XP_047277148.1

EC 3.2.2.31

XP_047277149.1

EC 3.2.2.31

XP_047277150.1

EC 3.2.2.31

XP_047277153.1

EC 3.2.2.31

XP_047277154.1

EC 3.2.2.31

XP_047277155.1

EC 3.2.2.31

XP_047277157.1

EC 3.2.2.31

XP_047277158.1

EC 3.2.2.31

XP_047277159.1

EC 3.2.2.31

XP_047277160.1

EC 3.2.2.31

XP_054192692.1

EC 3.2.2.31

XP_054192693.1

EC 3.2.2.31

XP_054192694.1

EC 3.2.2.31

XP_054192695.1

EC 3.2.2.31

XP_054192696.1

EC 3.2.2.31

XP_054192697.1

EC 3.2.2.31

XP_054192698.1

EC 3.2.2.31

XP_054192699.1

EC 3.2.2.31

XP_054192700.1

EC 3.2.2.31

XP_054192701.1

EC 3.2.2.31

XP_054192702.1

EC 3.2.2.31

XP_054192703.1

EC 3.2.2.31

XP_054192704.1

EC 3.2.2.31

XP_054192705.1

EC 3.2.2.31

XP_054192706.1

EC 3.2.2.31

NCBI Reference Sequences (RefSeq)

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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

NG_008189.1 RefSeqGene

Range

5001..16229

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_220

mRNA and Protein(s)

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

Status: REVIEWED

Description

Transcript Variant: This variant (alpha3), also known as type 1, uses an alternate in-frame splice site in the 5' coding region, compared to variant alpha5. This difference results in a protein (isoform 2) that is shorter than isoform 5. Isoform 2 has been shown to localize to mitochondria.

Source sequence(s)

AL359540

Consensus CDS

CCDS41322.1

UniProtKB/TrEMBL

E5KP34

Related

ENSP00000361187.3, ENST00000372115.7

Conserved Domains (1) summary

COG1194
Location:64 → 466

MutY; Adenine-specific DNA glycosylase, acts on AG and A-oxoG pairs [Replication, recombination and repair]
NM_001048172.2 → NP_001041637.1 adenine DNA glycosylase isoform 3

See identical proteins and their annotated locations for NP_001041637.1

Status: REVIEWED

Description

Transcript Variant: This variant (gamma2) contains a distinct 5' UTR and uses an alternate in-frame splice site in the 5' coding region, compared to variant alpha5. These differences cause translation initiation at a downstream start codon and result in a protein (isoform 3) that is shorter than isoform 5.

Source sequence(s)

AB032927, AL359540, CN413115

Consensus CDS

CCDS41321.1

UniProtKB/TrEMBL

E5KP28, E5KP33

Related

ENSP00000346354.6, ENST00000354383.10

Conserved Domains (4) summary

smart00525
Location:262 → 282

FES; iron-sulpphur binding domain in DNA-(apurinic or apyrimidinic site) lyase (subfamily of ENDO3)

COG1194
Location:65 → 467

MutY; Adenine-specific DNA glycosylase, acts on AG and A-oxoG pairs [Replication, recombination and repair]

cd00056
Location:101 → 259

ENDO3c; endonuclease III; includes endonuclease III (DNA-(apurinic or apyrimidinic site) lyase), alkylbase DNA glycosidases (Alka-family) and other DNA glycosidases

cd03431
Location:341 → 470

DNA_Glycosylase_C; DNA glycosylase (MutY in bacteria and hMYH in humans) is responsible for repairing misread A*oxoG residues to C*G by removing the inappropriately paired adenine base from the DNA backbone. It belongs to the Nudix hydrolase superfamily and is important ...
NM_001048173.2 → NP_001041638.1 adenine DNA glycosylase isoform 2

See identical proteins and their annotated locations for NP_001041638.1

Status: REVIEWED

Source sequence(s)

AB032928, AL359540, CN413115

Consensus CDS

CCDS41322.1

UniProtKB/TrEMBL

E5KP34

Related

ENSP00000347685.2, ENST00000355498.6

Conserved Domains (1) summary

COG1194
Location:64 → 466

MutY; Adenine-specific DNA glycosylase, acts on AG and A-oxoG pairs [Replication, recombination and repair]
NM_001048174.2 → NP_001041639.1 adenine DNA glycosylase isoform 2

See identical proteins and their annotated locations for NP_001041639.1

Status: REVIEWED

Source sequence(s)

AB032925, AL359540

Consensus CDS

CCDS41322.1

UniProtKB/TrEMBL

E5KP34

Related

ENSP00000407590.2, ENST00000456914.7

Conserved Domains (1) summary

COG1194
Location:64 → 466

MutY; Adenine-specific DNA glycosylase, acts on AG and A-oxoG pairs [Replication, recombination and repair]
NM_001128425.2 → NP_001121897.1 adenine DNA glycosylase isoform 5

See identical proteins and their annotated locations for NP_001121897.1

Status: REVIEWED

Description

Transcript Variant: This variant (alpha5) represents the longest transcript and encodes the longest isoform (5).

Source sequence(s)

AB032920, AL359540, BM926983

UniProtKB/TrEMBL

E5KP25, E5KP30

Related

ENSP00000518552.2, ENST00000710952.2

Conserved Domains (4) summary

smart00525
Location:289 → 309

FES; iron-sulpphur binding domain in DNA-(apurinic or apyrimidinic site) lyase (subfamily of ENDO3)

COG1194
Location:92 → 494

MutY; Adenine-specific DNA glycosylase, acts on AG and A-oxoG pairs [Replication, recombination and repair]

cd00056
Location:128 → 286

ENDO3c; endonuclease III; includes endonuclease III (DNA-(apurinic or apyrimidinic site) lyase), alkylbase DNA glycosidases (Alka-family) and other DNA glycosidases

cd03431
Location:368 → 497

DNA_Glycosylase_C; DNA glycosylase (MutY in bacteria and hMYH in humans) is responsible for repairing misread A*oxoG residues to C*G by removing the inappropriately paired adenine base from the DNA backbone. It belongs to the Nudix hydrolase superfamily and is important ...
NM_001293190.2 → NP_001280119.1 adenine DNA glycosylase isoform 6

See identical proteins and their annotated locations for NP_001280119.1

Status: REVIEWED

Description

Transcript Variant: This variant (alpha2) uses an alternate in-frame splice site in the 5' coding region, compared to variant alpha5. The resulting isoform (6) lacks an internal segment, compared to isoform 5.

Source sequence(s)

AB032921, BM926983

Consensus CDS

CCDS72777.1

UniProtKB/TrEMBL

E5KP27

Related

ENSP00000361182.3, ENST00000372110.7

Conserved Domains (4) summary

smart00525
Location:276 → 296

FES; iron-sulpphur binding domain in DNA-(apurinic or apyrimidinic site) lyase (subfamily of ENDO3)

COG1194
Location:79 → 481

MutY; Adenine-specific DNA glycosylase, acts on AG and A-oxoG pairs [Replication, recombination and repair]

cd00056
Location:115 → 273

ENDO3c; endonuclease III; includes endonuclease III (DNA-(apurinic or apyrimidinic site) lyase), alkylbase DNA glycosidases (Alka-family) and other DNA glycosidases

cd03431
Location:355 → 484

DNA_Glycosylase_C; DNA glycosylase (MutY in bacteria and hMYH in humans) is responsible for repairing misread A*oxoG residues to C*G by removing the inappropriately paired adenine base from the DNA backbone. It belongs to the Nudix hydrolase superfamily and is important ...
NM_001293191.2 → NP_001280120.1 adenine DNA glycosylase isoform 7

See identical proteins and their annotated locations for NP_001280120.1

Status: REVIEWED

Description

Transcript Variant: This variant (beta1) contains a distinct 5' UTR, lacks a portion of the 5' coding region and also uses an alternate in-frame splice site in the 5' coding region, compared to variant alpha5. The resulting isoform (7) has a shorter N-terminus and lacks an internal 3aa segment, compared to isoform 5.

Source sequence(s)

AB032924, AL359540, AL560568

Consensus CDS

CCDS72776.1

UniProtKB/TrEMBL

E5KP33

Related

ENSP00000409718.1, ENST00000448481.5

Conserved Domains (4) summary

smart00525
Location:272 → 292

FES; iron-sulpphur binding domain in DNA-(apurinic or apyrimidinic site) lyase (subfamily of ENDO3)

COG1194
Location:75 → 477

MutY; Adenine-specific DNA glycosylase, acts on AG and A-oxoG pairs [Replication, recombination and repair]

cd00056
Location:111 → 269

ENDO3c; endonuclease III; includes endonuclease III (DNA-(apurinic or apyrimidinic site) lyase), alkylbase DNA glycosidases (Alka-family) and other DNA glycosidases

cd03431
Location:351 → 480

DNA_Glycosylase_C; DNA glycosylase (MutY in bacteria and hMYH in humans) is responsible for repairing misread A*oxoG residues to C*G by removing the inappropriately paired adenine base from the DNA backbone. It belongs to the Nudix hydrolase superfamily and is important ...
NM_001293192.2 → NP_001280121.1 adenine DNA glycosylase isoform 8

See identical proteins and their annotated locations for NP_001280121.1

Status: REVIEWED

Description

Transcript Variant: This variant (alpha4) uses an alternate splice site in the 5' region, which results in translation initiation at a downstream AUG start codon, compared to variant alpha5. The resulting isoform (8) has a shorter N-terminus, compared to isoform 5. Variants alpha4 and gamma4 encode the same isoform 8.

Source sequence(s)

AB032923, BM926983

UniProtKB/TrEMBL

Q5T418

Conserved Domains (4) summary

TIGR01084
Location:3 → 305

mutY; A/G-specific adenine glycosylase

smart00525
Location:169 → 189

FES; iron-sulpphur binding domain in DNA-(apurinic or apyrimidinic site) lyase (subfamily of ENDO3)

cd00056
Location:8 → 166

ENDO3c; endonuclease III; includes endonuclease III (DNA-(apurinic or apyrimidinic site) lyase), alkylbase DNA glycosidases (Alka-family) and other DNA glycosidases

cd03431
Location:248 → 377

DNA_Glycosylase_C; DNA glycosylase (MutY in bacteria and hMYH in humans) is responsible for repairing misread A*oxoG residues to C*G by removing the inappropriately paired adenine base from the DNA backbone. It belongs to the Nudix hydrolase superfamily and is important ...
NM_001293195.2 → NP_001280124.1 adenine DNA glycosylase isoform 2

See identical proteins and their annotated locations for NP_001280124.1

Status: REVIEWED

Source sequence(s)

AB032926, AL359540, AL560568

Consensus CDS

CCDS41322.1

UniProtKB/TrEMBL

E5KP34

Related

ENSP00000361176.1, ENST00000372104.5

Conserved Domains (1) summary

COG1194
Location:64 → 466

MutY; Adenine-specific DNA glycosylase, acts on AG and A-oxoG pairs [Replication, recombination and repair]
NM_001293196.2 → NP_001280125.1 adenine DNA glycosylase isoform 8

See identical proteins and their annotated locations for NP_001280125.1

Status: REVIEWED

Description

Transcript Variant: This variant (gamma4) contains a distinct 5' UTR, and uses an alternate splice site in the 5' region, which results in translation initiation at a downstream AUG start codon, compared to variant alpha5. The resulting isoform (8) has a shorter N-terminus, compared to isoform 5. Variants alpha4 and gamma4 encode the same isoform 8.

Source sequence(s)

AB032929, AL359540, BI818560, HY094590

UniProtKB/TrEMBL

Q5T418

Conserved Domains (4) summary

TIGR01084
Location:3 → 305

mutY; A/G-specific adenine glycosylase

smart00525
Location:169 → 189

FES; iron-sulpphur binding domain in DNA-(apurinic or apyrimidinic site) lyase (subfamily of ENDO3)

cd00056
Location:8 → 166

ENDO3c; endonuclease III; includes endonuclease III (DNA-(apurinic or apyrimidinic site) lyase), alkylbase DNA glycosidases (Alka-family) and other DNA glycosidases

cd03431
Location:248 → 377

DNA_Glycosylase_C; DNA glycosylase (MutY in bacteria and hMYH in humans) is responsible for repairing misread A*oxoG residues to C*G by removing the inappropriately paired adenine base from the DNA backbone. It belongs to the Nudix hydrolase superfamily and is important ...
NM_001350650.2 → NP_001337579.1 adenine DNA glycosylase isoform 9

Status: REVIEWED

Source sequence(s)

BC003178, BM926983

UniProtKB/TrEMBL

Q5T418

Conserved Domains (1) summary

COG1194
Location:10 → 351

MutY; Adenine-specific DNA glycosylase, acts on AG and A-oxoG pairs [Replication, recombination and repair]
NM_001350651.2 → NP_001337580.1 adenine DNA glycosylase isoform 9

Status: REVIEWED

Source sequence(s)

BC003178, BM926983

UniProtKB/TrEMBL

Q5T418

Conserved Domains (1) summary

COG1194
Location:10 → 351

MutY; Adenine-specific DNA glycosylase, acts on AG and A-oxoG pairs [Replication, recombination and repair]
NM_001407069.1 → NP_001393998.1 adenine DNA glycosylase isoform 17

Status: REVIEWED

Source sequence(s)

AL359540
NM_001407070.1 → NP_001393999.1 adenine DNA glycosylase isoform 2

Status: REVIEWED

Source sequence(s)

AL359540
NM_001407071.1 → NP_001394000.1 adenine DNA glycosylase isoform 3

Status: REVIEWED

Source sequence(s)

AL359540

UniProtKB/TrEMBL

E5KP28
NM_001407072.1 → NP_001394001.1 adenine DNA glycosylase isoform 2

Status: REVIEWED

Source sequence(s)

AL359540
NM_001407073.1 → NP_001394002.1 adenine DNA glycosylase isoform 18

Status: REVIEWED

Source sequence(s)

AL359540
NM_001407075.1 → NP_001394004.1 adenine DNA glycosylase isoform 16

Status: REVIEWED

Source sequence(s)

AL359540
NM_001407077.1 → NP_001394006.1 adenine DNA glycosylase isoform 7

Status: REVIEWED

Source sequence(s)

AL359540

Related

ENSP00000403655.2, ENST00000435155.2
NM_001407078.1 → NP_001394007.1 adenine DNA glycosylase isoform 3

Status: REVIEWED

Source sequence(s)

AL359540

UniProtKB/TrEMBL

E5KP28
NM_001407079.1 → NP_001394008.1 adenine DNA glycosylase isoform 14

Status: REVIEWED

Source sequence(s)

AL359540
NM_001407080.1 → NP_001394009.1 adenine DNA glycosylase isoform 15

Status: REVIEWED

Source sequence(s)

AL359540
NM_001407081.1 → NP_001394010.1 adenine DNA glycosylase isoform 2

Status: REVIEWED

Source sequence(s)

AL359540
NM_001407082.1 → NP_001394011.1 adenine DNA glycosylase isoform 9

Status: REVIEWED

Source sequence(s)

AL359540
NM_001407083.1 → NP_001394012.1 adenine DNA glycosylase isoform 10

Status: REVIEWED

Source sequence(s)

AL359540

UniProtKB/TrEMBL

E9PM53
NM_001407085.1 → NP_001394014.1 adenine DNA glycosylase isoform 10

Status: REVIEWED

Source sequence(s)

AL359540

Consensus CDS

CCDS90938.1

UniProtKB/TrEMBL

E9PM53

Related

ENSP00000433130.2, ENST00000528013.6
NM_001407086.1 → NP_001394015.1 adenine DNA glycosylase isoform 3

Status: REVIEWED

Source sequence(s)

AL359540

Consensus CDS

CCDS41321.1

UniProtKB/TrEMBL

E5KP28
NM_001407087.1 → NP_001394016.1 adenine DNA glycosylase isoform 12

Status: REVIEWED

Source sequence(s)

AL359540

UniProtKB/TrEMBL

A0AAQ5BGW7

Related

ENSP00000519052.1, ENST00000713751.1
NM_001407088.1 → NP_001394017.1 adenine DNA glycosylase isoform 2

Status: REVIEWED

Source sequence(s)

AL359540

Related

ENSP00000519051.1, ENST00000713750.1
NM_001407089.1 → NP_001394018.1 adenine DNA glycosylase isoform 2

Status: REVIEWED

Source sequence(s)

AL359540
NM_001407091.1 → NP_001394020.1 adenine DNA glycosylase isoform 8

Status: REVIEWED

Source sequence(s)

AL359540
NM_012222.3 → NP_036354.1 adenine DNA glycosylase isoform 1

See identical proteins and their annotated locations for NP_036354.1

Status: REVIEWED

Description

Transcript Variant: This variant (alpha1) uses an alternate in-frame splice site in the 5' coding region, compared to variant alpha5. This difference results in a protein (isoform 1) that is shorter than isoform 5.

Source sequence(s)

AB032920, BM926983

Consensus CDS

CCDS520.1

UniProtKB/Swiss-Prot

D3DPZ4, Q15830, Q9UBP2, Q9UBS7, Q9UIF4, Q9UIF5, Q9UIF6, Q9UIF7

UniProtKB/TrEMBL

E5KP26, E5KP31

Related

ENSP00000500891.1, ENST00000672818.3

Conserved Domains (4) summary

smart00525
Location:286 → 306

FES; iron-sulpphur binding domain in DNA-(apurinic or apyrimidinic site) lyase (subfamily of ENDO3)

COG1194
Location:89 → 491

MutY; Adenine-specific DNA glycosylase, acts on AG and A-oxoG pairs [Replication, recombination and repair]

cd00056
Location:125 → 283

ENDO3c; endonuclease III; includes endonuclease III (DNA-(apurinic or apyrimidinic site) lyase), alkylbase DNA glycosidases (Alka-family) and other DNA glycosidases

cd03431
Location:365 → 494

DNA_Glycosylase_C; DNA glycosylase (MutY in bacteria and hMYH in humans) is responsible for repairing misread A*oxoG residues to C*G by removing the inappropriately paired adenine base from the DNA backbone. It belongs to the Nudix hydrolase superfamily and is important ...

RNA

NR_146882.2 RNA Sequence

Status: REVIEWED

Source sequence(s)

BC003178, BM679345, BM926983
NR_146883.2 RNA Sequence

Status: REVIEWED

Source sequence(s)

AL359540, BC003178, BM679345, CN413115
NR_176269.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AL359540
NR_176271.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AL359540

Related

ENST00000475516.5
NR_176272.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AL359540

Related

ENST00000485271.6
NR_176273.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AL359540
NR_176274.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AL359540

Related

ENST00000481571.5

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

45329242..45340440 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017001332.2 → XP_016856821.1 adenine DNA glycosylase isoform X3

UniProtKB/TrEMBL

E5KP33, E9PM53

Conserved Domains (4) summary

smart00525
Location:275 → 295

FES; iron-sulpphur binding domain in DNA-(apurinic or apyrimidinic site) lyase (subfamily of ENDO3)

COG1194
Location:78 → 480

MutY; Adenine-specific DNA glycosylase, acts on AG and A-oxoG pairs [Replication, recombination and repair]

cd00056
Location:114 → 272

ENDO3c; endonuclease III; includes endonuclease III (DNA-(apurinic or apyrimidinic site) lyase), alkylbase DNA glycosidases (Alka-family) and other DNA glycosidases

cd03431
Location:354 → 483

DNA_Glycosylase_C; DNA glycosylase (MutY in bacteria and hMYH in humans) is responsible for repairing misread A*oxoG residues to C*G by removing the inappropriately paired adenine base from the DNA backbone. It belongs to the Nudix hydrolase superfamily and is important ...
XM_011541503.3 → XP_011539805.1 adenine DNA glycosylase isoform X4

UniProtKB/TrEMBL

E5KP30

Conserved Domains (4) summary

smart00525
Location:275 → 295

FES; iron-sulpphur binding domain in DNA-(apurinic or apyrimidinic site) lyase (subfamily of ENDO3)

COG1194
Location:92 → 480

MutY; Adenine-specific DNA glycosylase, acts on AG and A-oxoG pairs [Replication, recombination and repair]

cd00056
Location:128 → 272

ENDO3c; endonuclease III; includes endonuclease III (DNA-(apurinic or apyrimidinic site) lyase), alkylbase DNA glycosidases (Alka-family) and other DNA glycosidases

cd03431
Location:354 → 483

DNA_Glycosylase_C; DNA glycosylase (MutY in bacteria and hMYH in humans) is responsible for repairing misread A*oxoG residues to C*G by removing the inappropriately paired adenine base from the DNA backbone. It belongs to the Nudix hydrolase superfamily and is important ...
XM_047421194.1 → XP_047277150.1 adenine DNA glycosylase isoform X3

UniProtKB/TrEMBL

E9PM53
XM_047421199.1 → XP_047277155.1 adenine DNA glycosylase isoform X6
XM_047421191.1 → XP_047277147.1 adenine DNA glycosylase isoform X2
XM_047421201.1 → XP_047277157.1 adenine DNA glycosylase isoform X7
XM_017001333.2 → XP_016856822.1 adenine DNA glycosylase isoform X3

UniProtKB/TrEMBL

E5KP33, E9PM53

Conserved Domains (4) summary

smart00525
Location:275 → 295

FES; iron-sulpphur binding domain in DNA-(apurinic or apyrimidinic site) lyase (subfamily of ENDO3)

COG1194
Location:78 → 480

MutY; Adenine-specific DNA glycosylase, acts on AG and A-oxoG pairs [Replication, recombination and repair]

cd00056
Location:114 → 272

ENDO3c; endonuclease III; includes endonuclease III (DNA-(apurinic or apyrimidinic site) lyase), alkylbase DNA glycosidases (Alka-family) and other DNA glycosidases

cd03431
Location:354 → 483

DNA_Glycosylase_C; DNA glycosylase (MutY in bacteria and hMYH in humans) is responsible for repairing misread A*oxoG residues to C*G by removing the inappropriately paired adenine base from the DNA backbone. It belongs to the Nudix hydrolase superfamily and is important ...
XM_047421198.1 → XP_047277154.1 adenine DNA glycosylase isoform X5

UniProtKB/TrEMBL

E9PP34

Related

ENSP00000436469.2, ENST00000483127.2
XM_047421192.1 → XP_047277148.1 adenine DNA glycosylase isoform X2
XM_011541502.3 → XP_011539804.1 adenine DNA glycosylase isoform X3

See identical proteins and their annotated locations for XP_011539804.1

UniProtKB/TrEMBL

E5KP33, E9PM53

Conserved Domains (4) summary

smart00525
Location:275 → 295

FES; iron-sulpphur binding domain in DNA-(apurinic or apyrimidinic site) lyase (subfamily of ENDO3)

COG1194
Location:78 → 480

MutY; Adenine-specific DNA glycosylase, acts on AG and A-oxoG pairs [Replication, recombination and repair]

cd00056
Location:114 → 272

ENDO3c; endonuclease III; includes endonuclease III (DNA-(apurinic or apyrimidinic site) lyase), alkylbase DNA glycosidases (Alka-family) and other DNA glycosidases

cd03431
Location:354 → 483

DNA_Glycosylase_C; DNA glycosylase (MutY in bacteria and hMYH in humans) is responsible for repairing misread A*oxoG residues to C*G by removing the inappropriately paired adenine base from the DNA backbone. It belongs to the Nudix hydrolase superfamily and is important ...
XM_047421193.1 → XP_047277149.1 adenine DNA glycosylase isoform X2
XM_047421197.1 → XP_047277153.1 adenine DNA glycosylase isoform X5

UniProtKB/TrEMBL

E9PP34
XM_011541497.4 → XP_011539799.1 adenine DNA glycosylase isoform X1

UniProtKB/TrEMBL

E5KP30

Conserved Domains (4) summary

smart00525
Location:281 → 301

FES; iron-sulpphur binding domain in DNA-(apurinic or apyrimidinic site) lyase (subfamily of ENDO3)

COG1194
Location:84 → 486

MutY; Adenine-specific DNA glycosylase, acts on AG and A-oxoG pairs [Replication, recombination and repair]

cd00056
Location:120 → 278

ENDO3c; endonuclease III; includes endonuclease III (DNA-(apurinic or apyrimidinic site) lyase), alkylbase DNA glycosidases (Alka-family) and other DNA glycosidases

cd03431
Location:360 → 489

DNA_Glycosylase_C; DNA glycosylase (MutY in bacteria and hMYH in humans) is responsible for repairing misread A*oxoG residues to C*G by removing the inappropriately paired adenine base from the DNA backbone. It belongs to the Nudix hydrolase superfamily and is important ...
XM_047421203.1 → XP_047277159.1 adenine DNA glycosylase isoform X9

Related

ENSP00000410263.2, ENST00000412971.6
XM_047421204.1 → XP_047277160.1 adenine DNA glycosylase isoform X10
XM_047421202.1 → XP_047277158.1 adenine DNA glycosylase isoform X8