NTHL1 Q90* [nucleoplasm]

Stable Identifier
R-HSA-9629974
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
nucleoplasm
Synonyms
NTHL1 Gln90*, NTHL1 Q90TER, NTHL1 Gln90Ter
Icon
NTHL1 Q90* [nucleoplasm] icon
NTHL1 Q90* [nucleoplasm] icon
Locations in the PathwayBrowser
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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
UniProt:P78549 NTHL1
Gene Names
NTHL1, NTH1, OCTS3
Chain
transit peptide:1-22, chain:23-304
Reference Genes
BioGPS Gene:4913 NTHL1
COSMIC (genes):NTHL1 NTHL1
CTD Gene:4913 NTHL1
dbSNP Gene:4913 NTHL1
ENSEMBL:ENSG00000065057 NTHL1
HGNC:8028 NTHL1
KEGG:hsa:4913 NTHL1
Monarch:4913 NTHL1
NCBI Gene:4913 NTHL1
OMIM:602656 NTHL1
UCSC:P78549 NTHL1
Reference Transcript
Other Identifiers
11721157_at
11761575_at
16822953
209731_PM_at
209731_at
3676396
3676397
3676398
3676399
3676400
3676401
3676402
3676403
3676404
3676405
3676406
3676407
3676408
3676409
3676410
3676411
3676412
40325_at
4913
7998692
A_23_P88904
GE59456
GO:0000703
GO:0003677
GO:0003684
GO:0003690
GO:0003824
GO:0003906
GO:0004519
GO:0005515
GO:0005634
GO:0005654
GO:0005739
GO:0006281
GO:0006284
GO:0006285
GO:0006289
GO:0006950
GO:0008534
GO:0016787
GO:0016798
GO:0016829
GO:0019104
GO:0043226
GO:0043231
GO:0045008
GO:0046872
GO:0051539
GO:0055086
GO:0140078
GO:0140097
GO:1901135
HMNXSV003054229
ILMN_2227968
PH_hs_0004048
TC16000772.hg
U79718_at
g1800270_3p_at
Participates
as a candidate of
Other forms of this molecule
NTHL1 D239Y [nucleoplasm]
NTHL1 Q287* [nucleoplasm]
NTHL1 [nucleoplasm]
Modified Residues
Name
Nonsense mutation at L-glutamine 90
Coordinate
90
PsiMod
L-glutamine removal [MOD:01637]
A protein modification that effectively removes or replaces an L-glutamine.
Disease
Name Identifier Synonyms
familial adenomatous polyposis DOID:0050424 adenomatous polyposis of the colon
colorectal cancer DOID:9256
Cross References
ENSEMBL
OpenTargets
GeneCards
HPA
PRO
Pharos - Targets
Orphanet
PDB
Interactors (1)
Accession #Entities Entities Confidence Score Evidence (IntAct)
 UniProt:Q9H8M7 MINY3      0.527 2
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