MSH6 report

I. Expression across cell types

II. Expression across tissues

III. Associated gene sets

GO_0006281Biological processDNA repair
GO_0007283Biological processspermatogenesis
GO_0008340Biological processdetermination of adult lifespan
GO_0009411Biological processresponse to UV
GO_0000710Biological processmeiotic mismatch repair
GO_0097193Biological processintrinsic apoptotic signaling pathway
GO_0016447Biological processsomatic recombination of immunoglobulin gene segments
GO_0008630Biological processintrinsic apoptotic signaling pathway in response to DNA damage
GO_0051096Biological processpositive regulation of helicase activity
GO_0045190Biological processisotype switching
GO_0016446Biological processsomatic hypermutation of immunoglobulin genes
GO_0006298Biological processmismatch repair
GO_0043570Biological processmaintenance of DNA repeat elements
GO_0045910Biological processnegative regulation of DNA recombination
GO_0005654Cellular componentnucleoplasm
GO_0005794Cellular componentGolgi apparatus
GO_0032301Cellular componentMutSalpha complex
GO_0005829Cellular componentcytosol
GO_0043231Cellular componentintracellular membrane-bounded organelle
GO_0000785Cellular componentchromatin
GO_0005634Cellular componentnucleus
GO_0035064Molecular functionmethylated histone binding
GO_0019899Molecular functionenzyme binding
GO_0042803Molecular functionprotein homodimerization activity
GO_0043531Molecular functionADP binding
GO_0032142Molecular functionsingle guanine insertion binding
GO_0003682Molecular functionchromatin binding
GO_0140664Molecular functionATP-dependent DNA damage sensor activity
GO_0003690Molecular functiondouble-stranded DNA binding
GO_0032137Molecular functionguanine/thymine mispair binding
GO_0032405Molecular functionMutLalpha complex binding
GO_0030983Molecular functionmismatched DNA binding
GO_0000287Molecular functionmagnesium ion binding
GO_0000400Molecular functionfour-way junction DNA binding
GO_0032143Molecular functionsingle thymine insertion binding
GO_0005524Molecular functionATP binding
GO_0008094Molecular functionATP-dependent activity, acting on DNA
GO_0032357Molecular functionoxidized purine DNA binding
GO_0005515Molecular functionprotein binding

IV. Literature review

[source]
Gene nameMSH6
Protein nameDNA mismatch repair protein Msh6 (hMSH6) (G/T mismatch-binding protein) (GTBP) (GTMBP) (MutS protein homolog 6) (MutS-alpha 160 kDa subunit) (p160)
DNA mismatch repair protein
MutS homolog 6
MSH6 protein
SynonymsGTBP
DescriptionFUNCTION: Component of the post-replicative DNA mismatch repair system (MMR). Heterodimerizes with MSH2 to form MutS alpha, which binds to DNA mismatches thereby initiating DNA repair. When bound, MutS alpha bends the DNA helix and shields approximately 20 base pairs, and recognizes single base mismatches and dinucleotide insertion-deletion loops (IDL) in the DNA. After mismatch binding, forms a ternary complex with the MutL alpha heterodimer, which is thought to be responsible for directing the downstream MMR events, including strand discrimination, excision, and resynthesis. ATP binding and hydrolysis play a pivotal role in mismatch repair functions. The ATPase activity associated with MutS alpha regulates binding similar to a molecular switch: mismatched DNA provokes ADP-->ATP exchange, resulting in a discernible conformational transition that converts MutS alpha into a sliding clamp capable of hydrolysis-independent diffusion along the DNA backbone. This transition is crucial for mismatch repair. MutS alpha may also play a role in DNA homologous recombination repair. Recruited on chromatin in G1 and early S phase via its PWWP domain that specifically binds trimethylated 'Lys-36' of histone H3 (H3K36me3): early recruitment to chromatin to be replicated allowing a quick identification of mismatch repair to initiate the DNA mismatch repair reaction. .

FUNCTION: Component of the post-replicative DNA mismatch repair system (MMR). .

FUNCTION: Component of the post-replicative DNA mismatch repair system (MMR). .

FUNCTION: Component of the post-replicative DNA mismatch repair system (MMR). .

AccessionsENST00000445503.5
ENST00000420813.6
ENST00000456246.1
ENST00000700000.1
ENST00000540021.6 [P52701-3]
ENST00000234420.11 [P52701-1]
ENST00000700004.2
ENST00000700003.1
ENST00000700002.1
ENST00000455383.6
Q3SWU9
P52701
ENST00000411819.2
F8W7G9
A0A8V8TPJ4
A0A8V8TQJ0
ENST00000652107.1
F8WAX8
A0A8V8TPR2
A0A8V8TQW9
A0A494C0M1
ENST00000673637.1