Mutyh mutY DNA glycosylase [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Mutyhprovided by MGI
Official Full Name: mutY DNA glycosylaseprovided by MGI
Primary source: MGI:MGI:1917853
See related: Ensembl:ENSMUSG00000028687 AllianceGenome:MGI:1917853
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Myh; Mutyha; Mutyhb; Mutyhc; Mutyhbeta; Mutyhalpha; 5730495A01Rik
Summary: Predicted to enable DNA N-glycosylase activity; DNA binding activity; and MutSalpha complex binding activity. Involved in negative regulation of necroptotic process. Located in mitochondrion. Human ortholog(s) of this gene implicated in familial adenomatous polyposis; familial adenomatous polyposis 2; and stomach carcinoma. Orthologous to human MUTYH (mutY DNA glycosylase). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in thymus adult (RPKM 7.7), limb E14.5 (RPKM 6.2) and 27 other tissues See more
Orthologs: human all
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Genomic context

Location:: 4 D1; 4 53.34 cM

Exon count:: 18

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	4	NC_000070.7 (116664846..116676641)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	4	NC_000070.6 (116807636..116819439)

Chromosome 4 - NC_000070.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

MUTYH is associated with hepatocarcinogenesis in a non-alcoholic steatohepatitis mouse model.
Title: MUTYH is associated with hepatocarcinogenesis in a non-alcoholic steatohepatitis mouse model.
Single molecule analysis indicates stimulation of MUTYH by UV-DDB through enzyme turnover.
Title: Single molecule analysis indicates stimulation of MUTYH by UV-DDB through enzyme turnover.
Structure of the mammalian adenine DNA glycosylase MUTYH: insights into the base excision repair pathway and cancer.
Title: Structure of the mammalian adenine DNA glycosylase MUTYH: insights into the base excision repair pathway and cancer.
MUTYH Deficiency Is Associated with Attenuated Pulmonary Fibrosis in a Bleomycin-Induced Model.
Title: MUTYH Deficiency Is Associated with Attenuated Pulmonary Fibrosis in a Bleomycin-Induced Model.
The DNA repair enzyme MUTYH potentiates cytotoxicity of the alkylating agent MNNG by interacting with abasic sites.
Title: The DNA repair enzyme MUTYH potentiates cytotoxicity of the alkylating agent MNNG by interacting with abasic sites.
These findings suggest that MUTYH does not rely upon the wedge residue for damage site recognition, but this residue stabilizes the lesion recognition complex.
Title: Single molecule glycosylase studies with engineered 8-oxoguanine DNA damage sites show functional defects of a MUTYH polyposis variant.
results suggested that MYH, which interacts with TRADD, inhibits TNF-alpha necroptotic signaling. Therefore, MYH inactivation is essential for necroptosis via the downregulation of caspase-8.
Title: MutY DNA Glycosylase Protects Cells From Tumor Necrosis Factor Alpha-Induced Necroptosis.
Ogg1 and Mutyh regulate hippocampal gene expression related to cognition and behavior, suggesting a role for the glycosylases in regulating adaptive behavior.
Title: Synergistic Actions of Ogg1 and Mutyh DNA Glycosylases Modulate Anxiety-like Behavior in Mice.
MUTYH loss is associated with an increase in inflammation associated colorectal cancer risk, which involves immunosuppression and altered inflammatory response.
Title: The MUTYH base excision repair gene protects against inflammation-associated colorectal carcinogenesis.
Results show that MYH is a vital DNA repair enzyme that protects cells from oxidative DNA damage and is critical for a proper cellular response to DNA damage.
Title: Mammalian MutY homolog (MYH or MUTYH) protects cells from oxidative DNA damage.

Submit: New GeneRIF Correction See all GeneRIFs (25)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (2)
Targeted (3) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

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	ISO Inferred from Sequence Orthology more info
enables DNA N-glycosylase activity	TAS Traceable Author Statement more info	PubMed
enables DNA binding	IEA Inferred from Electronic Annotation more info
enables MutSalpha complex binding	ISO Inferred from Sequence Orthology more info
enables adenine/guanine mispair binding	IBA Inferred from Biological aspect of Ancestor more info
enables catalytic activity	IEA Inferred from Electronic Annotation more info
enables hydrolase activity	IEA Inferred from Electronic Annotation more info
enables hydrolase activity, acting on glycosyl bonds	IEA Inferred from Electronic Annotation more info
enables iron-sulfur cluster binding	IEA Inferred from Electronic Annotation 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 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	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within DNA damage response	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within DNA repair	TAS Traceable Author Statement more info	PubMed
involved_in base-excision repair	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within metabolic process	IEA Inferred from Electronic Annotation more info
involved_in mismatch repair	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of necroptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to oxidative stress	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in mitochondrion	HDA more info	PubMed
located_in nucleoplasm	ISO Inferred from Sequence Orthology 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; mMYH; mutY homolog alpha

NP_001153053.1

EC 3.2.2.31

NP_001303676.1

EC 3.2.2.31

NP_573513.2

EC 3.2.2.31

XP_006503455.1

EC 3.2.2.31

XP_030109634.1

EC 3.2.2.31

XP_030109635.1

EC 3.2.2.31

XP_036020311.1

EC 3.2.2.31

XP_036020312.1

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.

mRNA and Protein(s)

NM_001159581.1 → NP_001153053.1 adenine DNA glycosylase isoform a

See identical proteins and their annotated locations for NP_001153053.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a). Variants 1 and 2 both encode the same isoform (a).

Source sequence(s)

AB117938, AB117939, BB090873, CX213088

Consensus CDS

CCDS18518.1

UniProtKB/Swiss-Prot

A2AGE3, Q99P21

UniProtKB/TrEMBL

Q3U0J6

Conserved Domains (1) summary

COG1194
Location:63 → 465

MutY; Adenine-specific DNA glycosylase, acts on AG and A-oxoG pairs [Replication, recombination and repair]
NM_001316747.1 → NP_001303676.1 adenine DNA glycosylase isoform b

Status: VALIDATED

Description

Transcript Variant: This variant (3) lacks an alternate coding exon and initiates translation at an alternate start codon compared to variant 1. The resulting isoform (b) has a shorter and distinct N-terminus compared to isoform a.

Source sequence(s)

AB117937, BX639400

UniProtKB/TrEMBL

Q762D1

Conserved Domains (1) summary

COG1194
Location:63 → 404

MutY; Adenine-specific DNA glycosylase, acts on AG and A-oxoG pairs [Replication, recombination and repair]
NM_133250.2 → NP_573513.2 adenine DNA glycosylase isoform a

See identical proteins and their annotated locations for NP_573513.2

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1 and 2 both encode the same isoform (a).

Source sequence(s)

AB117938, BB090873, CX213088

Consensus CDS

CCDS18518.1

UniProtKB/Swiss-Prot

A2AGE3, Q99P21

UniProtKB/TrEMBL

Q3U0J6

Related

ENSMUSP00000099760.2, ENSMUST00000102699.8

Conserved Domains (1) summary

COG1194
Location:63 → 465

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

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000070.7 Reference GRCm39 C57BL/6J

Range

116664846..116676641

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_030253774.2 → XP_030109634.1 adenine DNA glycosylase isoform X3

UniProtKB/TrEMBL

Q762D1

Conserved Domains (1) summary

COG1194
Location:63 → 404

MutY; Adenine-specific DNA glycosylase, acts on AG and A-oxoG pairs [Replication, recombination and repair]
XM_006503392.4 → XP_006503455.1 adenine DNA glycosylase isoform X2

UniProtKB/TrEMBL

Q3U0J6

Conserved Domains (1) summary

COG1194
Location:63 → 465

MutY; Adenine-specific DNA glycosylase, acts on AG and A-oxoG pairs [Replication, recombination and repair]
XM_030253775.2 → XP_030109635.1 adenine DNA glycosylase isoform X4

UniProtKB/TrEMBL

Q8BKV8

Conserved Domains (2) summary

TIGR01084
Location:1 → 121

mutY; A/G-specific adenine glycosylase

cd03431
Location:83 → 212

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_036164418.1 → XP_036020311.1 adenine DNA glycosylase isoform X1

UniProtKB/Swiss-Prot

A2AGE3, Q99P21

UniProtKB/TrEMBL

Q3U0J6

Conserved Domains (1) summary

COG1194
Location:63 → 465

MutY; Adenine-specific DNA glycosylase, acts on AG and A-oxoG pairs [Replication, recombination and repair]
XM_036164419.1 → XP_036020312.1 adenine DNA glycosylase isoform X3

UniProtKB/TrEMBL

Q762D1

Conserved Domains (1) summary

COG1194
Location:63 → 404

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