NEIL1 G83D [nucleoplasm]

Stable Identifier
R-HSA-9616340
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
nucleoplasm
Synonyms
NEIL1 Gly83Asp
Icon
NEIL1 G83D [nucleoplasm] icon
NEIL1 G83D [nucleoplasm] icon
Locations in the PathwayBrowser
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Literature References
PubMed ID Title Journal Year
19443904 Catalytically impaired hMYH and NEIL1 mutant proteins identified in patients with primary sclerosing cholangitis and cholangiocarcinoma

Forsbring, M, Boberg, KM, Bergquist, A, Schrumpf, E, Karlsen, TH, Dalhus, B, Vik, ES, Bjørås, M, Alseth, I

Carcinogenesis 2009
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
ENSEMBL_homo_sapiens_GENE:ENSG00000140398.14 NEIL1
HGNC:18448 NEIL1
KEGG Gene (Homo sapiens):79661 NEIL1
Monarch:79661 NEIL1
NCBI Gene:79661 NEIL1
OMIM:608844 NEIL1
UCSC:Q96FI4 NEIL1
Reference Transcript
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
3602312
3602314
3602315
3602316
3602320
3602321
3602322
3602324
3602327
3602329
3602332
3602334
3602335
44133_at
79661
7985001
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:0006974
GO:0006979
GO:0008152
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
HMNXSV003049639
Hs.258515.0.A1_3p_at
ILMN_1812622
PH_hs_0026837
TC15000695.hg
g13375816_3p_s_at
Participates
as a member of
as a component of
Other forms of this molecule
NEIL1 Q282* [cytosol]
NEIL1 E28del [nucleoplasm]
NEIL1 [cytosol]
NEIL1 [nucleoplasm]
Modified Residues
Name
glycine 83 replaced with L-aspartic acid
Coordinate
83
PsiMod
glycine removal [MOD:01638]
A protein modification that effectively removes or replaces an glycine.
L-aspartic acid residue [MOD:00013]
A protein modification that effectively converts a source amino acid residue to an L-aspartic acid.
Disease
Name Identifier Synonyms
cholangiocarcinoma DOID:4947 cholangiosarcoma, adult primary Cholangiocarcinoma, adult primary cholangiocellular carcinoma
primary sclerosing cholangitis DOID:0060643
Cross References
RefSeq
OpenTargets
IntEnz
GeneCards
HPA
Ensembl
PRO
Pharos - Targets
PDB
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