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NEIL1 Q282* [cytosol]
Stable Identifier
R-HSA-9629915
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
cytosol
Synonyms
NEIL1 Gln282*, NEIL1 Q282TER, NEIL1 Gln282Ter
Icon
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Diseases of DNA repair (Homo sapiens)
Diseases of Base Excision Repair (Homo sapiens)
Defective Base Excision Repair Associated with NEIL1 (Homo sapiens)
NEIL1 Q282TER does not translocate to the nucleus (Homo sapiens)
NEIL1 Q282* [cytosol] (Homo sapiens)
External Reference Information
External Reference
UniProt:Q96FI4 NEIL1
Gene Names
NEIL1
Chain
initiator methionine:, chain:2-390
Reference Genes
BioGPS Gene:79661 NEIL1
COSMIC (genes):NEIL1 NEIL1
CTD Gene:79661 NEIL1
dbSNP Gene:79661 NEIL1
ENSEMBL:ENSG00000140398 NEIL1
HGNC:18448 NEIL1
KEGG:hsa:79661 NEIL1
Monarch:79661 NEIL1
NCBI Gene:79661 NEIL1
OMIM:608844 NEIL1
UCSC:Q96FI4 NEIL1
Reference Transcript
RefSeq:NM_001256552.1 NEIL1
RefSeq:NM_024608.3 NEIL1
RefSeq:XM_011522004.2 NEIL1
RefSeq:XM_011522002.1 NEIL1
RefSeq:XM_006720680.1 NEIL1
RefSeq:XM_006720681.1 NEIL1
RefSeq:XM_005254659.4 NEIL1
RefSeq:XM_011522003.2 NEIL1
Other Identifiers
11754518_a_at
16803197
219396_PM_s_at
219396_s_at
241477_PM_at
241477_at
3602300
3602301
3602302
3602303
3602304
3602305
3602306
3602307
3602308
3602309
3602310
3602312
3602313
3602314
3602315
3602316
3602317
3602318
3602319
3602320
3602321
3602322
3602323
3602324
3602325
3602326
3602327
3602328
3602329
3602330
3602331
3602332
3602333
3602334
3602335
44133_at
79661
7985001
A_14_P121702
A_23_P129157
GE88646
GO:0003676
GO:0003677
GO:0003684
GO:0003824
GO:0003906
GO:0005515
GO:0005634
GO:0005654
GO:0005694
GO:0005737
GO:0005813
GO:0005815
GO:0005829
GO:0005856
GO:0006281
GO:0006284
GO:0006287
GO:0006979
GO:0008270
GO:0016787
GO:0016798
GO:0016799
GO:0016829
GO:0019104
GO:0032074
GO:0043226
GO:0045008
GO:0055086
GO:0140078
GO:0140097
GO:1901135
HMNXSV003043792
HMNXSV003049639
Hs.258515.0.A1_3p_at
ILMN_1812622
PH_hs_0026837
TC15000695.hg
g13375816_3p_s_at
Participates
as an input of
NEIL1 Q282TER does not translocate to the nucleus (Homo sapiens)
Other forms of this molecule
NEIL1 [nucleoplasm]
NEIL1 [cytosol]
NEIL1 G83D [nucleoplasm]
NEIL1 E28del [nucleoplasm]
Modified Residues
Name
Nonsense mutation at L-glutamine 282
Coordinate
282
PsiMod
L-glutamine removal [MOD:01637]
A protein modification that effectively removes or replaces an L-glutamine.
Disease
Name
Identifier
Synonyms
cancer
DOID:162
malignant tumor, malignant neoplasm, primary cancer
Cross References
OpenTargets
ENSG00000140398
ENSEMBL
ENST00000564784
,
ENSP00000347170
,
ENSP00000455730
,
ENST00000569035
,
ENSG00000140398
,
ENST00000355059
,
ENSP00000457352
IntEnz
4.2.99.18
HPA
ENSG00000140398-NEIL1
GeneCards
NEIL1
PRO
Q96FI4
Pharos - Targets
Q96FI4
PDB
5ITY
,
7TMX
,
4NRV
,
6LWI
,
6LWB
,
6LWA
,
6LWJ
,
5ITQ
,
6LWQ
,
6LWR
,
6LWL
,
6LWC
,
6LWK
,
6LWD
,
5ITR
,
5ITX
,
6LWF
,
6LWM
,
6LWN
,
5ITT
,
5ITU
,
6LWG
,
6LWH
,
6LWO
,
6LWP
,
1TDH
,
8FTJ
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