MSH6 L222* [nucleoplasm]

Stable Identifier
R-HSA-5632954
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
nucleoplasm
Synonyms
MSH6 LEU222TER, DNA mismatch repair protein Msh6, MSH6_HUMAN
Icon
MSH6 L222* [nucleoplasm] icon
MSH6 L222* [nucleoplasm] icon
Locations in the PathwayBrowser
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Literature References
PubMed ID Title Journal Year
7604266 Mutations of GTBP in genetically unstable cells

Willson, JK, D'Arrigo, A, Palombo, F, Papadopoulos, N, Lengauer, C, Nicolaides, NC, Kinzler, KW, Parsons, R, Markowitz, S, Liu, B

Science 1995
External Reference Information
External Reference
UniProt:P52701 MSH6
Gene Names
MSH6, GTBP
Chain
chain:1-1360
Reference Genes
BioGPS Gene:2956 MSH6
COSMIC (genes):MSH6 MSH6
CTD Gene:2956 MSH6
dbSNP Gene:2956 MSH6
ENSEMBL:ENSG00000116062 MSH6
ENSEMBL_homo_sapiens_GENE:ENSG00000116062.19 MSH6
HGNC:7329 MSH6
KEGG Gene (Homo sapiens):2956 MSH6
Monarch:2956 MSH6
NCBI Gene:2956 MSH6
OMIM:600678 MSH6
UCSC:P52701 MSH6
Reference Transcript
Other Identifiers
11749000_a_at
11755368_a_at
16879923
2003_s_at
202911_PM_at
202911_at
211450_PM_s_at
211450_s_at
2481155
2481156
2481159
2481160
2481162
2481163
2481164
2481169
2481170
2481171
2481173
2481174
2481175
2481176
2481177
2481178
2956
8041888
A_14_P103048
A_14_P124635
A_23_P102202
GE60542
GO:0000166
GO:0000287
GO:0000400
GO:0000710
GO:0000785
GO:0002376
GO:0003677
GO:0003682
GO:0003684
GO:0003690
GO:0003824
GO:0005515
GO:0005524
GO:0005634
GO:0005654
GO:0005694
GO:0005794
GO:0005829
GO:0006281
GO:0006298
GO:0006310
GO:0006974
GO:0007283
GO:0008094
GO:0008340
GO:0008630
GO:0009411
GO:0012501
GO:0016446
GO:0016447
GO:0019899
GO:0022414
GO:0023052
GO:0030983
GO:0032137
GO:0032142
GO:0032143
GO:0032301
GO:0032357
GO:0032405
GO:0035064
GO:0042393
GO:0043226
GO:0043231
GO:0043531
GO:0045190
GO:0045910
GO:0048856
GO:0051096
GO:0097193
GO:0140097
GO:0140299
GO:0140657
GO:0140664
HMNXSV003013728
PH_hs_0026021
TC02000299.hg
g2687868_3p_a_at
g4504190_3p_at
Participates
as an input of
Other forms of this molecule
MSH6 [nucleoplasm]
Modified Residues
Name
Nonsense mutation at L-leucine 222
Coordinate
222
PsiMod
L-leucine removal [MOD:01641]
A protein modification that effectively removes or replaces an L-leucine.
Disease
Name Identifier Synonyms
colorectal cancer DOID:9256
Cross References
RefSeq
OpenTargets
HPA
GeneCards
Ensembl
PRO
Pharos - Targets
Orphanet
PDB
Interactors (5)
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