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mutY DNA glycosylase

Summary

Gene Symbol

MUTYH

Aliases

MYH

Organism

Homo sapiens (human)

External Links

NCBI Gene

4595

HGNC

7527

PubChem

4595

Alliance of Genome Resources

HGNC:7527

Annotation

Keyword

3D-structure
4Fe-4S
Alternative splicing
DNA repair
Disease variant
Glycosidase
Mitochondrion
Nucleus
Proteomics identification
Reference proteome
Tumor suppressor

Proteins

Displaying **all 6** entries
UniProt	Protein Name
E5KP28
E5KP26
E5KP27
E9PM53
Q9UIF7	MutY homolog
E5KP25

Annotation information from UniProt.

Gene Ontology (GO)

Displaying **all 5** entries
GO Term	Evidence Code	PMID
mismatch repair	IBA
negative regulation of necroptotic process	IEA
base-excision repair	IBA
DNA repair	TAS	8682794
depurination	TAS

GO Hierarchy

biological process

metabolic process [inference]

nitrogen compound metabolic process [inference]

cellular nitrogen compound metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleic acid metabolic process [inference]

DNA metabolic process [inference]

base-excision repair, AP site formation [inference]

depurination

DNA modification [inference]

depurination

cellular metabolic process [inference]

cellular aromatic compound metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleic acid metabolic process [inference]

DNA metabolic process [inference]

base-excision repair, AP site formation [inference]

depurination

DNA modification [inference]

depurination

cellular nitrogen compound metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleic acid metabolic process [inference]

DNA metabolic process [inference]

base-excision repair, AP site formation [inference]

depurination

DNA modification [inference]

depurination

heterocycle metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleic acid metabolic process [inference]

DNA metabolic process [inference]

base-excision repair, AP site formation [inference]

depurination

DNA modification [inference]

depurination

primary metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleic acid metabolic process [inference]

DNA metabolic process [inference]

base-excision repair, AP site formation [inference]

depurination

DNA modification [inference]

depurination

organic substance metabolic process [inference]

macromolecule metabolic process [inference]

macromolecule modification [inference]

DNA modification [inference]

depurination

nucleic acid metabolic process [inference]

DNA metabolic process [inference]

base-excision repair, AP site formation [inference]

depurination

DNA modification [inference]

depurination

organic cyclic compound metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleic acid metabolic process [inference]

DNA metabolic process [inference]

base-excision repair, AP site formation [inference]

depurination

DNA modification [inference]

depurination

cellular process [inference]

cellular metabolic process [inference]

cellular aromatic compound metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleic acid metabolic process [inference]

DNA metabolic process [inference]

base-excision repair, AP site formation [inference]

depurination

DNA modification [inference]

depurination

cellular nitrogen compound metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleic acid metabolic process [inference]

DNA metabolic process [inference]

base-excision repair, AP site formation [inference]

depurination

DNA modification [inference]

depurination

heterocycle metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleic acid metabolic process [inference]

DNA metabolic process [inference]

base-excision repair, AP site formation [inference]

depurination

DNA modification [inference]

depurination

cellular response to stimulus [inference]

cellular response to stress [inference]

DNA damage response [inference]

response to stimulus [inference]

response to stress [inference]

cellular response to stress [inference]

DNA damage response [inference]

cellular response to stimulus [inference]

cellular response to stress [inference]

DNA damage response [inference]

biological regulation [inference]

regulation of biological process [inference]

negative regulation of biological process [inference]

negative regulation of cellular process [inference]

negative regulation of programmed cell death [inference]

negative regulation of programmed necrotic cell death [inference]

negative regulation of necroptotic process

regulation of cellular process [inference]

regulation of programmed cell death [inference]

negative regulation of programmed cell death [inference]

negative regulation of programmed necrotic cell death [inference]

negative regulation of necroptotic process

regulation of programmed necrotic cell death [inference]

regulation of necroptotic process [inference]

negative regulation of necroptotic process

negative regulation of programmed necrotic cell death [inference]

negative regulation of necroptotic process

negative regulation of cellular process [inference]

negative regulation of programmed cell death [inference]

negative regulation of programmed necrotic cell death [inference]

negative regulation of necroptotic process

Displaying **all 3** entries
GO Term	Evidence Code	PMID
nucleus	IBA
mitochondrion	IEA
nucleoplasm	IDA TAS

GO Hierarchy

cellular component

cellular anatomical entity [inference]

nucleoplasm

organelle [inference]

membrane-bounded organelle [inference]

intracellular membrane-bounded organelle [inference]

intracellular organelle [inference]

intracellular membrane-bounded organelle [inference]

Displaying entries **1 - 5** of 12 in total

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GO Term	Evidence Code	PMID
DNA N-glycosylase activity	TAS
MutLbeta complex binding	IDA	11801590
adenine/guanine mispair binding	IBA
4 iron, 4 sulfur cluster binding	IEA
MutSalpha complex binding	IDA	11801590

GO Hierarchy

molecular function

catalytic activity [inference]

hydrolase activity [inference]

hydrolase activity, acting on glycosyl bonds [inference]

hydrolase activity, hydrolyzing N-glycosyl compounds [inference]

DNA N-glycosylase activity

mismatch base pair DNA N-glycosylase activity [inference]

purine-specific mismatch base pair DNA N-glycosylase activity

oxidized base lesion DNA N-glycosylase activity [inference]

oxidized purine nucleobase lesion DNA N-glycosylase activity [inference]

8-oxo-7,8-dihydroguanine DNA N-glycosylase activity

catalytic activity, acting on a nucleic acid [inference]

catalytic activity, acting on DNA [inference]

DNA N-glycosylase activity

mismatch base pair DNA N-glycosylase activity [inference]

purine-specific mismatch base pair DNA N-glycosylase activity

oxidized base lesion DNA N-glycosylase activity [inference]

oxidized purine nucleobase lesion DNA N-glycosylase activity [inference]

8-oxo-7,8-dihydroguanine DNA N-glycosylase activity

binding [inference]

protein binding

ion binding [inference]

cation binding [inference]

metal ion binding

protein-containing complex binding [inference]

mismatch repair complex binding [inference]

metal cluster binding [inference]

iron-sulfur cluster binding [inference]

4 iron, 4 sulfur cluster binding

organic cyclic compound binding [inference]

nucleic acid binding [inference]

DNA binding [inference]

damaged DNA binding [inference]

oxidized DNA binding [inference]

oxidized purine DNA binding

double-stranded DNA binding [inference]

mismatched DNA binding [inference]

adenine/guanine mispair binding

Gene Ontology information from NCBI Gene and UniProt.

Disease

Disease Ontology

Displaying entries **1 - 10** of **150** in total

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DO ID	Disease Name	Source
DOID:0050424	familial adenomatous polyposis	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:0050465	Muir-Torre syndrome	DisGeNET
DOID:0050589	inflammatory bowel disease	DisGeNET
DOID:0050638	transthyretin amyloidosis	DisGeNET
DOID:0050646	distal arthrogryposis	DisGeNET
DOID:0050657	Bannayan-Riley-Ruvalcaba syndrome	DisGeNET
DOID:0050757	deafness-dystonia-optic neuronopathy syndrome	DisGeNET
DOID:0050787	juvenile polyposis syndrome	DisGeNET
DOID:0060389	chromosome 10q23 deletion syndrome	DisGeNET
DOID:0080144	childhood acute lymphocytic leukemia	DisGeNET

The Human Phenotype Ontology

Displaying entries **11 - 20** of 61 in total

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HPO ID	HPO Term
HP:0001260	Dysarthria
HP:0001276	Hypertonia
HP:0001288	Gait disturbance
HP:0001371	Flexion contracture
HP:0001402	Hepatocellular carcinoma
HP:0001442	Typified by somatic mosaicism
HP:0001824	Weight loss
HP:0002017	Nausea and vomiting
HP:0002019	Constipation
HP:0002024	Malabsorption

Displaying **all 4** entries
Disease ID	Disease Name
OMIM:613659	gastric cancer
ORPHA:440437	familial colorectal cancer type X
ORPHA:247798	familial adenomatous polyposis 2
OMIM:608456	familial adenomatous polyposis 2

PubChem Disease

GHR Health Conditions

Familial adenomatous polyposis

MedGen Diseases

OMIM Phenotypes

KEGG Diseases

Gene-Disease-Co-Occurrences-in-Literature (PubChem)

Ortholog

Displaying entries **61 - 63** of 63 in total

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Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Cyprinus carpio carpio	109083710		CYPCA73072
Carlito syrichta	103259761		CARSF24599
Cebus imitator	108312749		CEBIM14782

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: August 19, 2024