NTHL1 Q90TER [nucleoplasm]

Stable Identifier
R-HSA-9629974
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Synonyms
NTHL1 Q90*, NTHL1 Gln90Ter, NTHL1 Gln90*
Locations in the PathwayBrowser
Literature References
PubMed ID Title Journal Year
25938944 A germline homozygous mutation in the base-excision repair gene NTHL1 causes adenomatous polyposis and colorectal cancer

Weren, RD, Ligtenberg, MJ, Kets, CM, de Voer, RM, Verwiel, ET, Spruijt, L, van Zelst-Stams, WA, Jongmans, MC, Gilissen, C, Hehir-Kwa, JY, Hoischen, A, Shendure, J, Boyle, EA, Kamping, EJ, Nagtegaal, ID, Tops, BB, Nagengast, FM, Geurts van Kessel, A, van Krieken, JH, Kuiper, RP, Hoogerbrugge, N

Nat. Genet. 2015
External Reference Information
External Reference
Gene Names
NTHL1, NTH1, OCTS3
Chain
transit peptide:1-30, chain:31-312
Other Identifiers
0006840039
11721157_at
16822953
209731_at
3676396
3676397
3676398
3676401
3676403
3676405
3676406
3676411
3676412
40325_at
4913
7998692
GE59456
GO:0000228
GO:0000703
GO:0000790
GO:0003674
GO:0003677
GO:0003690
GO:0003824
GO:0003906
GO:0004518
GO:0004519
GO:0005515
GO:0005575
GO:0005622
GO:0005634
GO:0005654
GO:0005694
GO:0005737
GO:0005739
GO:0006259
GO:0006281
GO:0006284
GO:0006285
GO:0006296
GO:0006950
GO:0006974
GO:0008150
GO:0008152
GO:0008534
GO:0009056
GO:0009058
GO:0016787
GO:0016798
GO:0016829
GO:0019104
GO:0034641
GO:0034655
GO:0043167
GO:0043226
GO:0044281
GO:0045008
GO:0046872
GO:0051536
GO:0051539
GO:0140078
ILMN_1750960
ILMN_2227968
PH_hs_0004048
TC16000772.hg
U79718_at
g1800270_3p_at
Participant Of
Other forms of this molecule
Disease
Name Identifier Synonyms
colorectal cancer 9256
familial adenomatous polyposis 0050424 adenomatous polyposis of the colon
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