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NEIL3 D132V [nucleoplasm]
Stable Identifier
R-HSA-9629268
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
nucleoplasm
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 NEIL3 (Homo sapiens)
NEIL3 D132V does not cleave 5-guanidinohydantoin (Gh) (Homo sapiens)
NEIL3 D132V:Gh-DNA [nucleoplasm] (Homo sapiens)
NEIL3 D132V [nucleoplasm] (Homo sapiens)
External Reference Information
External Reference
UniProt:Q8TAT5 NEIL3
Gene Names
NEIL3
Chain
initiator methionine:1, chain:2-605
Reference Genes
BioGPS Gene:55247 NEIL3
COSMIC (genes):NEIL3 NEIL3
CTD Gene:55247 NEIL3
dbSNP Gene:55247 NEIL3
ENSEMBL:ENSG00000109674 NEIL3
HGNC:24573 NEIL3
KEGG Gene (Homo sapiens):55247 NEIL3
Monarch:55247 NEIL3
NCBI Gene:55247 NEIL3
OMIM:608934 NEIL3
UCSC:Q8TAT5 NEIL3
Reference Transcript
RefSeq:NM_018248.2 NEIL3
Other Identifiers
11740012_a_at
11740013_at
16972616
219502_PM_at
219502_at
2752728
2752729
2752730
2752731
2752732
2752735
2752736
2752740
2752741
2752746
2752747
2752749
2752751
2752752
2752753
2752754
55247
8098423
82239_at
A_14_P135128
GE55888
GO:0000405
GO:0003674
GO:0003676
GO:0003677
GO:0003684
GO:0003690
GO:0003697
GO:0003824
GO:0003906
GO:0004518
GO:0005575
GO:0005622
GO:0005634
GO:0005654
GO:0005694
GO:0006259
GO:0006281
GO:0006284
GO:0006285
GO:0006950
GO:0006974
GO:0008150
GO:0008152
GO:0008270
GO:0016787
GO:0016798
GO:0016799
GO:0016829
GO:0019104
GO:0034641
GO:0036297
GO:0043167
GO:0043226
GO:0045007
GO:0046872
GO:0140078
GO:1904931
HMNXSV003013450
ILMN_1757697
ILMN_2114747
PH_hs_0024652
TC04000874.hg
g8922721_3p_at
Participates
as a component of
NEIL3 D132V:Gh-DNA [nucleoplasm] (Homo sapiens)
Other forms of this molecule
NEIL3 [nucleoplasm]
Modified Residues
Name
L-aspartic acid 132 replaced with L-valine
Coordinate
132
PsiMod
L-valine residue [MOD:00029]
A protein modification that effectively converts a source amino acid residue to an L-valine.
L-aspartic acid removal [MOD:01634]
A protein modification that effectively removes or replaces an L-aspartic acid.
Disease
Name
Identifier
Synonyms
autoimmune hypersensitivity disease
DOID:417
autoimmune disease, hypersensitivity reaction type II disease
Cross References
RefSeq
NP_060718.2
OpenTargets
ENSG00000109674
HPA
ENSG00000109674-NEIL3
GeneCards
Q8TAT5
Ensembl
ENSP00000264596
,
ENST00000264596
,
ENSG00000109674
PRO
Q8TAT5
Pharos - Targets
Q8TAT5
Orphanet
28987
HMDB Protein
HMDBP13642
PDB
7JL5
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