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Details on Person UniProt:Q9UIF7-3 MUTYH

Class:Id	ReferenceIsoform:150746
_chainChangeLog	chain:1-546 added on Sat February 7 2015
_displayName	UniProt:Q9UIF7-3 MUTYH
_timestamp	2024-11-03 19:52:41
chain	chain:1-546
checksum	6C79BDB34345DD10
comment	FUNCTION Involved in oxidative DNA damage repair. Initiates repair of AoxoG to CG by removing the inappropriately paired adenine base from the DNA backbone. Possesses both adenine and 2-OH-A DNA glycosylase activities.CATALYTIC ACTIVITY Hydrolyzes free adenine bases from 7,8-dihydro-8-oxoguanine:adenine mismatched double-stranded DNA, leaving an apurinic site.COFACTOR Binds 1 [4Fe-4S] cluster. The cluster does not appear to play a role in catalysis, but is probably involved in the proper positioning of the enzyme along the DNA strand.INTERACTION The disease is caused by variants affecting the gene represented in this entry.DISEASE The gene represented in this entry may be involved in disease pathogenesis. Somatic mutations contribute to the development of a sub-set of sporadic gastric cancers in carriers of Helicobacter pylori (PubMed:15273732).SIMILARITY Belongs to the Nth/MutY family.SEQUENCE CAUTION Truncated N-terminus.SEQUENCE CAUTION Probable cloning artifact.SEQUENCE CAUTION Truncated N-terminus.SEQUENCE CAUTION Probable cloning artifact.
created	[InstanceEdit:110175] Matthews, L, 2004-01-29 08:00:00
description	recommendedName: Adenine DNA glycosylase ecNumber evidence="19"3.2.2.31 alternativeName: MutY homolog shortName: hMYH
geneName	MUTYH MYH
identifier	Q9UIF7
isoformParent	[ReferenceGeneProduct:110196] UniProt:Q9UIF7 MUTYH [Homo sapiens]
isSequenceChanged	FALSE
keyword	3D-structure 4Fe-4S Alternative splicing Disease variant DNA damage DNA repair Glycosidase Hydrolase Iron Iron-sulfur Metal-binding Mitochondrion Nucleus Proteomics identification Reference proteome Tumor suppressor
modified	[InstanceEdit:9836292] Weiser, Joel, 2023-05-25 [InstanceEdit:9852000] Weiser, Joel, 2023-11-03 [InstanceEdit:9926675] Weiser, Joel, 2024-11-03
name	MUTYH
referenceDatabase	[ReferenceDatabase:2] UniProt
referenceGene	[ReferenceDNASequence:8988515] ENSEMBL:ENSG00000132781 MUTYH [Homo sapiens]
secondaryIdentifier	MUTYH_HUMAN D3DPZ4 Q15830 Q9UBP2 Q9UBS7 Q9UIF4 Q9UIF5 Q9UIF6
sequenceLength	546
species	[Species:48887] Homo sapiens
variantIdentifier	Q9UIF7-3
(referenceEntity)	[EntityWithAccessionedSequence:110197] MUTYH-3 [nucleoplasm] [Homo sapiens] [EntityWithAccessionedSequence:9605325] MUTYH-3 G382D [nucleoplasm] [Homo sapiens] [EntityWithAccessionedSequence:9605328] MUTYH-3 Y165C [nucleoplasm] [Homo sapiens] [EntityWithAccessionedSequence:9606261] MUTYH-3 R227W [nucleoplasm] [Homo sapiens] [EntityWithAccessionedSequence:9606264] MUTYH-3 V232F [nucleoplasm] [Homo sapiens] [EntityWithAccessionedSequence:9606282] MUTYH-3 A459D [nucleoplasm] [Homo sapiens] [EntityWithAccessionedSequence:9606290] MUTYH-3 R231L [nucleoplasm] [Homo sapiens] [EntityWithAccessionedSequence:9606297] MUTYH-3 R231H [nucleoplasm] [Homo sapiens] [EntityWithAccessionedSequence:9606311] MUTYH-3 G272E [nucleoplasm] [Homo sapiens] [EntityWithAccessionedSequence:9606316] MUTYH-3 A359V [nucleoplasm] [Homo sapiens] List all 24 refering instances
(referenceSequence)	[ReplacedResidue:9605320] glycine 382 replaced with L-aspartic acid [ReplacedResidue:9605332] L-tyrosine 165 replaced with L-cysteine [ReplacedResidue:9606262] L-valine 232 replaced with L-phenylalanine [ReplacedResidue:9606263] L-arginine 227 replaced with L-tryptophan [ReplacedResidue:9606278] L-alanine 459 replaced with L-aspartic acid [ReplacedResidue:9606287] L-arginine 231 replaced with L-leucine [ReplacedResidue:9606296] L-arginine 231 replaced with L-histidine [ReplacedResidue:9606306] glycine 272 replaced with L-glutamic acid [ReplacedResidue:9606317] L-alanine 359 replaced with L-valine [ReplacedResidue:9606322] L-alanine 359 replaced with L-serine List all 23 refering instances
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No pathways have been reviewed or authored by UniProt:Q9UIF7-3 MUTYH (150746)