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
Expand all
Literature References
PubMed ID Title Journal Year
15987719 Cells with pathogenic biallelic mutations in the human MUTYH gene are defective in DNA damage binding and repair

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

Carcinogenesis 2005
20418187 Functional analysis of MUTYH mutated proteins associated with familial adenomatous polyposis

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

DNA Repair (Amst.) 2010
12393807 Biallelic germline mutations in MYH predispose to multiple colorectal adenoma and somatic G:C-->T:A mutations

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

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, Livingston, AL, David, SS

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

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

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

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

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

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

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

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

Cancer Lett. 2004
External Reference Information
External Reference
UniProt:Q9UIF7-3 MUTYH
Gene Names
MUTYH, MYH
Other Identifiers
0007000102
11734568_a_at
16686401
1X51
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
3N5N
4595
489_at
490_g_at
7915695
8732
A_23_P51660
A_24_P910898
AAC50618
AAH03178
AAM78555
AB032920
AB032921
AB032922
AB032923
AB032924
AB032925
AB032926
AB032927
AB032928
AB032929
ADP90934
ADP90935
ADP90937
ADP90938
ADP90944
ADP90945
ADP90947
ADP90948
ADP90949
ADP90950
ADP90952
ADP90953
ADP90954
ADP90955
ADP90957
ADP90958
ADP90964
ADP90965
ADP90967
ADP90968
ADP90969
ADP90970
ADP90972
ADP90973
ADP90974
ADP90975
ADP90977
ADP90978
ADP90979
ADP90980
ADP90982
ADP90983
ADP90984
ADP90985
ADP90987
ADP90988
ADP90989
ADP90990
ADP90992
ADP90993
ADP90999
ADP91000
ADP91002
ADP91003
ADP91004
ADP91005
ADP91007
ADP91008
ADP91009
ADP91010
ADP91012
ADP91013
ADP91014
ADP91015
ADP91017
ADP91018
ADP91019
ADP91020
ADP91022
ADP91023
ADP91024
ADP91025
ADP91027
ADP91028
ADP91029
ADP91030
ADP91032
ADP91033
ADP91034
ADP91035
ADP91037
ADP91038
ADP91039
ADP91040
ADP91042
ADP91043
ADP91044
ADP91045
ADP91047
ADP91048
ADP91049
ADP91050
ADP91052
ADP91053
ADP91054
ADP91055
ADP91057
ADP91058
ADP91059
ADP91060
ADP91062
ADP91063
ADP91064
ADP91065
ADP91067
ADP91068
ADP91069
ADP91070
ADP91072
ADP91073
ADP91074
ADP91075
ADP91077
ADP91078
ADP91079
ADP91080
ADP91082
ADP91083
ADP91084
ADP91085
ADP91087
ADP91088
ADP91089
ADP91090
ADP91092
ADP91093
ADP91094
ADP91095
ADP91097
ADP91098
ADP91099
ADP91100
ADP91102
ADP91103
ADP91104
ADP91105
ADP91107
ADP91108
ADP91109
ADP91110
ADP91112
ADP91113
ADP91114
ADP91115
ADP91117
ADP91118
ADP91119
ADP91120
ADP91122
ADP91123
ADP91129
ADP91130
ADP91132
ADP91133
AF527839
AL359540
ALQ33661
BAA89336
BAA89337
BAA89338
BAA89339
BAA89340
BAA89341
BAA89342
BAA89343
BAA89344
BAA89345
BC003178
CCDS41320
CCDS41321
CCDS41322
CCDS520
CCDS72776
CCDS72777
CH471059
E5KP25
E5KP26
E5KP27
E5KP28
E9PI11
E9PIW5
E9PKM9
E9PLT4
E9PM53
E9PMH1
E9PNY0
E9PP30
E9PP34
EAX06992
EAX06993
EAX06994
EAX06995
EAX06996
EAX06997
ENSG00000132781
ENSP00000346354
ENSP00000347685
ENSP00000361170
ENSP00000361176
ENSP00000361182
ENSP00000361187
ENSP00000407590
ENSP00000409718
ENST00000354383
ENST00000354383.10
ENST00000355498
ENST00000355498.6
ENST00000372098
ENST00000372098.7
ENST00000372104
ENST00000372104.5
ENST00000372110
ENST00000372110.7
ENST00000372115
ENST00000372115.7
ENST00000448481
ENST00000448481.5
ENST00000456914
ENST00000456914.6
EntrezGene:4595
EntrezGene:MUTYH
g6912519_3p_a_at
GE80793
GO:0000701
GO:0003674
GO:0003677
GO:0003824
GO:0005515
GO:0005575
GO:0005622
GO:0005623
GO:0005634
GO:0005654
GO:0005737
GO:0005739
GO:0006259
GO:0006281
GO:0006284
GO:0006298
GO:0006950
GO:0006974
GO:0008150
GO:0008152
GO:0016787
GO:0016798
GO:0019104
GO:0032357
GO:0032407
GO:0034039
GO:0034641
GO:0035485
GO:0043167
GO:0043226
GO:0045007
GO:0046872
GO:0051536
GO:0051539
H0YEI2
H0YER6
HGNC:7527
HPA008732
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
ILMN_2277537
ILMN_2336970
IPR000086
IPR000445
IPR003265
IPR003651
IPR004035
IPR004036
IPR011257
IPR015797
IPR023170
IPR029119
KU178203
LRG_220
LRG_220t1
MIM:132600
MIM:604933
MIM:608456
MIM:613659
MUTYH
MUTYH-201
MUTYH-202
MUTYH-203
MUTYH-204
MUTYH-205
MUTYH-206
MUTYH-209
MUTYH-211
NM_001048171
NM_001048172
NM_001048173
NM_001048174
NM_001293190
NM_001293191
NM_001293192
NM_001293195
NM_001293196
NM_001350650
NM_001350651
NP_001041636
NP_001041637
NP_001041638
NP_001041639
NP_001280119
NP_001280120
NP_001280121
NP_001280124
NP_001280125
NP_001337579
NP_001337580
NR_146882
NR_146883
PF00633
PF00730
PF14815
PH_hs_0013965
Q5T413
Q5T418
SM00478
SM00525
TC01002607.hg
U63329
U63329_at
UPI000006D171
UPI000006D74A
UPI000006EB4F
UPI000006FD08
UPI0000072268
UPI0000073530
XM_011541504
XM_011541505
XM_011541506
XM_017001334
XM_017001335
XM_017001336
XM_017001337
XM_024447244
XM_024447245
XM_024447248
XP_011539806
XP_011539807
XP_011539808
XP_016856823
XP_016856824
XP_016856825
XP_016856826
XP_024303012
XP_024303013
XP_024303016
XR_002956644
XR_946658
Participant Of
hasMember
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-cysteine residue [MOD:00014]
A protein modification that effectively converts a source amino acid residue to an L-cysteine.
L-tyrosine removal [MOD:01649]
A protein modification that effectively removes or replaces an L-tyrosine.
Disease
Name Identifier Synonyms
colorectal cancer 9256
familial adenomatous polyposis 0050424 adenomatous polyposis of the colon
Cross References
RefSeq
OpenTargets
HPA
GeneCards
Ensembl
PRO
Orphanet
PDB
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