MUTYH-3 Y165C [nucleoplasm]

Stable Identifier
R-HSA-9605328
Type
Genes and Transcripts [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
nucleoplasm
Synonyms
MUTYH-3 Tyr165Cys, MUTYH alpha-3 Y165C, MUTYH alpha-3 Tyr165Cys
Locations in the PathwayBrowser
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Literature References
PubMed ID Title Journal Year
20418187 Functional analysis of MUTYH mutated proteins associated with familial adenomatous polyposis

Albertini, AM, Bossa, C, Mazzei, F, Ranzani, GN, D'Agostino, VG, Torreri, P, Marinoni, I, Minoprio, A, Bignami, M, Petrucci, TC

DNA Repair (Amst.) 2010
15987719 Cells with pathogenic biallelic mutations in the human MUTYH gene are defective in DNA damage binding and repair

Tomlinson, IP, Shi, C, Parker, AR, Eshleman, JR, Sieber, OM, Takao, M, Hua, L

Carcinogenesis 2005
12393807 Biallelic germline mutations in MYH predispose to multiple colorectal adenoma and somatic G:C-->T:A mutations

Sampson, JR, Emmerson, P, Jordan, S, Cheadle, JP, Maynard, J, Best, JM, Jones, S, Williams, GT

Hum. Mol. Genet. 2002
12628248 Insight into the functional consequences of inherited variants of the hMYH adenine glycosylase associated with colorectal cancer: complementation assays with hMYH variants and pre-steady-state kinetics of the corresponding mutated E.coli enzymes

Chmiel, NH, David, SS, Livingston, AL

J. Mol. Biol. 2003
22926731 Cancer-associated variants and a common polymorphism of MUTYH exhibit reduced repair of oxidative DNA damage using a GFP-based assay in mammalian cells

Brinkmeyer, MK, Chang, C, Kundu, S, Xie, Y, David, SS, Raetz, AG

Carcinogenesis 2012
19953527 MUTYH mutations associated with familial adenomatous polyposis: functional characterization by a mammalian cell-based assay

Degan, P, Barone, F, Albertini, AM, Mazzei, F, Molatore, S, D'Agostino, VG, Russo, MT, Ranzani, GN, Minoprio, A, Matsumoto, Y, Bignami, M

Hum. Mutat. 2010
19836313 Adenine removal activity and bacterial complementation with the human MutY homologue (MUTYH) and Y165C, G382D, P391L and Q324R variants associated with colorectal cancer

Brinkmeyer, MK, Kundu, S, David, SS, Livingston, AL

DNA Repair (Amst.) 2009
15036665 Identification of critical residues required for the mutation avoidance function of human MutY (hMYH) and implications in colorectal cancer

Bassett, HM, Wood, TG, McCullough, AK, Wooden, SH

Cancer Lett. 2004
External Reference Information
External Reference
UniProt:Q9UIF7-3 MUTYH
Gene Names
MUTYH, MYH
Other Identifiers
0007000102
11734568_a_at
16686401
207727_s_at
2410112
2410113
2410120
2410123
2410124
2410126
2410127
2410128
2410130
2410131
2410133
2410134
2410135
2410137
2410139
2410141
2410142
2410143
2410144
2410145
2410147
2410149
2410150
2410151
2410152
2410153
4595
489_at
490_g_at
7915695
A_23_P51660
A_24_P910898
GE80793
GO:0000701
GO:0003674
GO:0003677
GO:0003824
GO:0005515
GO:0005575
GO:0005622
GO:0005634
GO:0005654
GO:0005737
GO:0005739
GO:0006259
GO:0006281
GO:0006284
GO:0006287
GO:0006298
GO:0006950
GO:0006974
GO:0008150
GO:0008152
GO:0016787
GO:0016798
GO:0032357
GO:0032407
GO:0034039
GO:0034641
GO:0035485
GO:0043167
GO:0043226
GO:0045007
GO:0046872
GO:0051536
GO:0051539
HMNXSV003054539
ILMN_2277537
ILMN_2336970
PH_hs_0013965
TC01002607.hg
U63329_at
g6912519_3p_a_at
Participates
as a member of
Other forms of this molecule
MUTYH-3 A359V [nucleoplasm]
MUTYH-3 R171W [nucleoplasm]
MUTYH-3 G272E [nucleoplasm]
MUTYH-3 Q324R [nucleoplasm]
MUTYH-3 V232F [nucleoplasm]
MUTYH-3 R227W [nucleoplasm]
MUTYH-3 A368fs26* [nucleoplasm]
MUTYH-3 E466del [nucleoplasm]
MUTYH-3 P391L [nucleoplasm]
MUTYH-3 Q377fs* [nucleoplasm]
MUTYH-3 A459D [nucleoplasm]
MUTYH-3 W138_M139insIW [nucleoplasm]
MUTYH-3 R231H [nucleoplasm]
MUTYH-3 E466fs* [nucleoplasm]
MUTYH-3 R260Q [nucleoplasm]
MUTYH-3 Q324H [nucleoplasm]
MUTYH-3 G382D [nucleoplasm]
MUTYH-3 Y90fs* [nucleoplasm]
MUTYH-3 P281L [nucleoplasm]
MUTYH-3 R231L [nucleoplasm]
MUTYH-3 R260W [nucleoplasm]
MUTYH-3 A359S [nucleoplasm]
MUTYH-3 [nucleoplasm]
Modified Residues
Name
L-tyrosine 165 replaced with L-cysteine
Coordinate
165
PsiMod
L-tyrosine removal [MOD:01649]
A protein modification that effectively removes or replaces an L-tyrosine.
L-cysteine residue [MOD:00014]
A protein modification that effectively converts a source amino acid residue to an L-cysteine.
Disease
Name Identifier Synonyms
familial adenomatous polyposis DOID:0050424 adenomatous polyposis of the colon
colorectal cancer DOID:9256
Cross References
RefSeq
OpenTargets
HPA
GeneCards
Ensembl
PRO
Pharos - Targets
Orphanet
PDB
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