NTHL1 Q90TER [nucleoplasm]

Stable Identifier
R-HSA-9629974
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Synonyms
NTHL1 Q90*, NTHL1 Gln90Ter, NTHL1 Gln90*
NTHL1 Q90TER [nucleoplasm] icon
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, Kuiper, RP, Ligtenberg, MJ, Geurts van Kessel, A, Hoogerbrugge, N, Verwiel, ET, de Voer, RM, Jongmans, MC, Kamping, EJ, Hoischen, A, van Krieken, JH, Nagtegaal, ID, van Zelst-Stams, WA, Nagengast, FM, Spruijt, L, Tops, BB, Hehir-Kwa, JY, Boyle, EA, Gilissen, C, Shendure, J, Kets, CM

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_PM_at
209731_at
3676396
3676397
3676398
3676401
3676403
3676405
3676406
3676411
3676412
40325_at
4913
7998692
A_23_P88904
GE59456
GO:0000703
GO:0003674
GO:0003677
GO:0003684
GO:0003690
GO:0003824
GO:0003906
GO:0004518
GO:0004519
GO:0005515
GO:0005575
GO:0005622
GO:0005634
GO:0005654
GO:0005737
GO:0005739
GO:0006281
GO:0006284
GO:0006285
GO:0006289
GO:0006296
GO:0006974
GO:0008150
GO:0008152
GO:0008534
GO:0016787
GO:0016798
GO:0016829
GO:0019104
GO:0043167
GO:0043226
GO:0043231
GO:0045008
GO:0046872
GO:0051536
GO:0051539
GO:0055086
GO:0090305
GO:0140078
GO:1901135
HMNXSV003054229
ILMN_1750960
ILMN_2227968
PH_hs_0004048
TC16000772.hg
U79718_at
g1800270_3p_at
Participates
Other forms of this molecule
Disease
Name Identifier Synonyms
familial adenomatous polyposis DOID:0050424 adenomatous polyposis of the colon
colorectal cancer DOID:9256
Cite Us!