NTHL1 D239Y [nucleoplasm]

Stable Identifier
R-HSA-9630033
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
nucleoplasm
Synonyms
NTHL1 Asp239Tyr
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NTHL1 D239Y [nucleoplasm] icon
NTHL1 D239Y [nucleoplasm] icon
Locations in the PathwayBrowser
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Literature References
PubMed ID Title Journal Year
23940330 Germ-line variant of human NTH1 DNA glycosylase induces genomic instability and cellular transformation

Galick, HA, Sweasy, JB, Kathe, S, Liu, M, Wallace, SS, Kidane, D, Robey-Bond, S

Proc. Natl. Acad. Sci. U.S.A. 2013
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 component of
Other forms of this molecule
NTHL1 Q287* [nucleoplasm]
NTHL1 Q90* [nucleoplasm]
NTHL1 [nucleoplasm]
Modified Residues
Name
L-aspartic acid 239 replaced with L-tyrosine
Coordinate
239
PsiMod
L-aspartic acid removal [MOD:01634]
A protein modification that effectively removes or replaces an L-aspartic acid.
L-tyrosine residue
A protein modification that effectively converts a source amino acid residue to L-tyrosine.
Disease
Name Identifier Synonyms
cancer DOID:162 malignant tumor, malignant neoplasm, primary cancer
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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