HUMAN:MUTYH

Species (Taxon ID)	Homo sapiens (Human). (9606)
Gene Name(s)	MUTYH (synonyms: MYH)
Protein Name(s)	A/G-specific adenine DNA glycosylase MutY homolog hMYH
External Links
UniProt	Q9UIF7
EMBL	U63329 AB032920 AB032921 AB032922 AB032923 AB032924 AB032925 AB032926 AB032927 AB032928 AB032929 HQ205466 HQ205468 HQ205469 HQ205470 HQ205472 HQ205473 HQ205474 HQ205475 HQ205476 HQ205477 HQ205479 HQ205480 HQ205481 HQ205482 HQ205483 HQ205484 HQ205485 HQ205486 HQ205487 HQ205488 HQ205489 HQ205490 HQ205491 HQ205492 HQ205493 HQ205494 HQ205495 HQ205496 HQ205497 HQ205498 HQ205499 HQ205500 HQ205501 HQ205502 HQ205503 HQ205505 AF527839 AL359540 AL359540 AL359540 AL359540 AL359540 CH471059 CH471059 CH471059 BC003178
CCDS	CCDS41320.1 CCDS41321.1 CCDS41322.1 CCDS520.1 CCDS72776.1 CCDS72777.1
RefSeq	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_036354.1 XP_006710711.1
UniGene	Hs.271353
PDB	1X51 3N5N
PDBsum	1X51 3N5N
ProteinModelPortal	Q9UIF7
SMR	Q9UIF7
BioGrid	110681
DIP	DIP-41972N
IntAct	Q9UIF7
MINT	MINT-151684
STRING	9606.ENSP00000408176
PhosphoSite	Q9UIF7
DMDM	48428272
MaxQB	Q9UIF7
PaxDb	Q9UIF7
PRIDE	Q9UIF7
Ensembl	ENST00000354383 ENST00000355498 ENST00000372098 ENST00000372104 ENST00000372110 ENST00000372115 ENST00000448481 ENST00000456914
GeneID	4595
KEGG	hsa:4595
UCSC	uc001cnf.3 uc001cng.3 uc001cnn.3
CTD	4595
GeneCards	GC01M045794
GeneReviews	MUTYH
HGNC	HGNC:7527
HPA	HPA008732
MIM	604933 608456 613659
neXtProt	NX_Q9UIF7
Orphanet	26106 247798
PharmGKB	PA31328
eggNOG	COG1194
GeneTree	ENSGT00510000047220
HOVERGEN	HBG052540
InParanoid	Q9UIF7
KO	K03575
PhylomeDB	Q9UIF7
TreeFam	TF328549
Reactome	REACT_1064 REACT_1729 REACT_2176
EvolutionaryTrace	Q9UIF7
GeneWiki	MUTYH
GenomeRNAi	4595
NextBio	17664
PRO	PR:Q9UIF7
Proteomes	UP000005640
Bgee	Q9UIF7
CleanEx	HS_MUTYH
ExpressionAtlas	Q9UIF7
Genevestigator	Q9UIF7
GO	GO:0005739 GO:0005654 GO:0005634 GO:0051539 GO:0016798 GO:0046872 GO:0032407 GO:0006284 GO:0006285 GO:0045007 GO:0006281 GO:0006298
Gene3D	1.10.1670.10 1.10.340.30 3.90.79.10
InterPro	IPR011257 IPR004036 IPR004035 IPR003651 IPR003265 IPR023170 IPR029119 IPR000086 IPR015797
Pfam	PF00730 PF14815
SMART	SM00478 SM00525
SUPFAM	SSF48150 SSF55811
PROSITE	PS00764 PS01155 PS51462

Annotations

Qualifier	GO ID	GO term name	Reference	ECO ID	ECO term name	with/from	Aspect	Notes	Status
enables	GO:0000701	purine-specific mismatch base pair DNA N-glycosylase activity	PMID:20848659^[1]	ECO:0000315	mutant phenotype evidence used in manual assertion		F	Seeded From UniProt	complete
NOT\|enables	GO:0032408	MutSbeta complex binding	PMID:11801590^[2]	ECO:0000314	direct assay evidence used in manual assertion		F	Seeded From UniProt	complete
enables	GO:0032407	MutSalpha complex binding	PMID:11801590^[2]	ECO:0000314	direct assay evidence used in manual assertion		F	Seeded From UniProt	complete
NOT\|enables	GO:0032406	MutLbeta complex binding	PMID:11801590^[2]	ECO:0000314	direct assay evidence used in manual assertion		F	Seeded From UniProt	complete
NOT\|enables	GO:0032405	MutLalpha complex binding	PMID:11801590^[2]	ECO:0000314	direct assay evidence used in manual assertion		F	Seeded From UniProt	complete
enables	GO:0035485	adenine/guanine mispair binding	PMID:21873635^[3]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	PANTHER:PTN000040628 PomBase:SPAC26A3.02	F	Seeded From UniProt	complete
enables	GO:0034039	8-oxo-7,8-dihydroguanine DNA N-glycosylase activity	PMID:21873635^[3]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	PANTHER:PTN000040628 PomBase:SPAC26A3.02	F	Seeded From UniProt	complete
enables	GO:0032357	oxidized purine DNA binding	PMID:21873635^[3]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	PANTHER:PTN000040628 PomBase:SPAC26A3.02	F	Seeded From UniProt	complete
involved_in	GO:0006298	mismatch repair	PMID:21873635^[3]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	PANTHER:PTN000040628 PomBase:SPAC26A3.02	P	Seeded From UniProt	complete
involved_in	GO:0006284	base-excision repair	PMID:21873635^[3]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	EcoGene:EG10627 PANTHER:PTN000040628	P	Seeded From UniProt	complete
involved_in	GO:0006281	DNA repair	PMID:21873635^[3]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	PANTHER:PTN000040628 UniProtKB:Q9HU37	P	Seeded From UniProt	complete
part_of	GO:0005634	nucleus	PMID:21873635^[3]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	PANTHER:PTN000040629 PomBase:SPAC26A3.02 RGD:620045 UniProtKB:Q9UIF7	C	Seeded From UniProt	complete
enables	GO:0000701	purine-specific mismatch base pair DNA N-glycosylase activity	PMID:21873635^[3]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	PANTHER:PTN000040628 PomBase:SPAC26A3.02 UniProtKB:Q9UIF7	F	Seeded From UniProt	complete
part_of	GO:0005634	nucleus	GO_REF:0000052	ECO:0000314	direct assay evidence used in manual assertion		C	Seeded From UniProt	complete
enables	GO:0003677	DNA binding	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR000445	F	Seeded From UniProt	complete
enables	GO:0003824	catalytic activity	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR011257	F	Seeded From UniProt	complete
involved_in	GO:0006281	DNA repair	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR011257	P	Seeded From UniProt	complete
involved_in	GO:0006284	base-excision repair	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR003265	P	Seeded From UniProt	complete
enables	GO:0016787	hydrolase activity	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR000086 InterPro:IPR015797	F	Seeded From UniProt	complete
enables	GO:0051539	4 iron, 4 sulfur cluster binding	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR003651	F	Seeded From UniProt	complete
involved_in	GO:0006298	mismatch repair	PMID:7823963^[4]	ECO:0000304	author statement supported by traceable reference used in manual assertion		P	Seeded From UniProt	complete
involved_in	GO:0006281	DNA repair	PMID:8682794^[5]	ECO:0000304	author statement supported by traceable reference used in manual assertion		P	Seeded From UniProt	complete
part_of	GO:0005634	nucleus	PMID:7823963^[4]	ECO:0000304	author statement supported by traceable reference used in manual assertion		C	Seeded From UniProt	complete
involved_in	GO:0045007	depurination	Reactome:R-HSA-110331 Reactome:R-HSA-110330	ECO:0000304	author statement supported by traceable reference used in manual assertion		P	Seeded From UniProt	complete
enables	GO:0019104	DNA N-glycosylase activity	Reactome:R-HSA-110246	ECO:0000304	author statement supported by traceable reference used in manual assertion		F	Seeded From UniProt	complete
part_of	GO:0005654	nucleoplasm	Reactome:R-HSA-9608288 Reactome:R-HSA-110355 Reactome:R-HSA-110246 Reactome:R-HSA-110237	ECO:0000304	author statement supported by traceable reference used in manual assertion		C	Seeded From UniProt	complete
involved_in	GO:0006974	cellular response to DNA damage stimulus	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0227	P	Seeded From UniProt	complete
involved_in	GO:0006281	DNA repair	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0234	P	Seeded From UniProt	complete
part_of	GO:0005634	nucleus	GO_REF:0000037 GO_REF:0000039	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0539 UniProtKB-SubCell:SL-0191	C	Seeded From UniProt	complete
involved_in	GO:0008152	metabolic process	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0326	P	Seeded From UniProt	complete
enables	GO:0051536	iron-sulfur cluster binding	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0411	F	Seeded From UniProt	complete
enables	GO:0046872	metal ion binding	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0479	F	Seeded From UniProt	complete
part_of	GO:0005739	mitochondrion	GO_REF:0000037 GO_REF:0000039	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0496 UniProtKB-SubCell:SL-0173	C	Seeded From UniProt	complete
enables	GO:0016798	hydrolase activity, acting on glycosyl bonds	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0326	F	Seeded From UniProt	complete
enables	GO:0016787	hydrolase activity	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0378	F	Seeded From UniProt	complete
enables	GO:0051539	4 iron, 4 sulfur cluster binding	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0004	F	Seeded From UniProt	complete
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Notes

References

See Help:References for how to manage references in GONUTS.

↑ Goto, M et al. (2010) Adenine DNA glycosylase activity of 14 human MutY homolog (MUTYH) variant proteins found in patients with colorectal polyposis and cancer. Hum. Mutat. 31 E1861-74 PubMed GONUTS page
↑ ^2.0 ^2.1 ^2.2 ^2.3 Gu, Y et al. (2002) Human MutY homolog, a DNA glycosylase involved in base excision repair, physically and functionally interacts with mismatch repair proteins human MutS homolog 2/human MutS homolog 6. J. Biol. Chem. 277 11135-42 PubMed GONUTS page
↑ ^3.0 ^3.1 ^3.2 ^3.3 ^3.4 ^3.5 ^3.6 ^3.7 Gaudet, P et al. (2011) Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Brief. Bioinformatics 12 449-62 PubMed GONUTS page
↑ ^4.0 ^4.1 McGoldrick, JP et al. (1995) Characterization of a mammalian homolog of the Escherichia coli MutY mismatch repair protein. Mol. Cell. Biol. 15 989-96 PubMed GONUTS page
↑ Slupska, MM et al. (1996) Cloning and sequencing a human homolog (hMYH) of the Escherichia coli mutY gene whose function is required for the repair of oxidative DNA damage. J. Bacteriol. 178 3885-92 PubMed GONUTS page

[PMID:20848659-1] Goto, M et al. (2010) Adenine DNA glycosylase activity of 14 human MutY homolog (MUTYH) variant proteins found in patients with colorectal polyposis and cancer. Hum. Mutat. 31 E1861-74 PubMed GONUTS page

[PMID:11801590-2] 2.0 ^2.1 ^2.2 ^2.3 Gu, Y et al. (2002) Human MutY homolog, a DNA glycosylase involved in base excision repair, physically and functionally interacts with mismatch repair proteins human MutS homolog 2/human MutS homolog 6. J. Biol. Chem. 277 11135-42 PubMed GONUTS page

[PMID:21873635-3] 3.0 ^3.1 ^3.2 ^3.3 ^3.4 ^3.5 ^3.6 ^3.7 Gaudet, P et al. (2011) Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Brief. Bioinformatics 12 449-62 PubMed GONUTS page

[PMID:7823963-4] 4.0 ^4.1 McGoldrick, JP et al. (1995) Characterization of a mammalian homolog of the Escherichia coli MutY mismatch repair protein. Mol. Cell. Biol. 15 989-96 PubMed GONUTS page

[PMID:8682794-5] Slupska, MM et al. (1996) Cloning and sequencing a human homolog (hMYH) of the Escherichia coli mutY gene whose function is required for the repair of oxidative DNA damage. J. Bacteriol. 178 3885-92 PubMed GONUTS page

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HUMAN:MUTYH

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