Gene
msh6
- ID
- ZDB-GENE-020905-3
- Name
- mutS homolog 6 (E. coli)
- Symbol
- msh6 Nomenclature History
- Previous Names
-
- cb326 (1)
- wu:fb36c12
- Type
- protein_coding_gene
- Location
- Chr: 13 Mapping Details/Browsers
- Description
- Enables guanine/thymine mispair binding activity. Acts upstream of or within maintenance of DNA repeat elements. Predicted to be part of MutSalpha complex. Predicted to be active in nucleus. Is expressed in several structures, including central nervous system; immature eye; neural tube; optic primordium; and ventral mesoderm. Human ortholog(s) of this gene implicated in Lynch syndrome; colorectal carcinoma; endometrial cancer; hereditary nonpolyposis colorectal cancer type 5; and mismatch repair cancer syndrome. Orthologous to human MSH6 (mutS homolog 6).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 11 figures from 4 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- cb326 (12 images)
Wild Type Expression Summary
- All Phenotype Data
- 2 figures from Feitsma et al., 2008
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Allele | Type | Localization | Consequence | Mutagen | Supplier |
---|---|---|---|---|---|
hu1811 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
sa12638 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
sa15299 | Allele with one point mutation | Unknown | Splice Site | ENU | |
sa15374 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
sa22382 | Allele with one point mutation | Unknown | Premature Stop | ENU |
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No data available
Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
endometrial cancer | Alliance | {Endometrial cancer, familial} | 608089 |
hereditary nonpolyposis colorectal cancer type 5 | Alliance | Lynch syndrome 5 | 614350 |
Mismatch repair cancer syndrome 3 | 619097 |
Domain, Family, and Site Summary
Type | InterPro ID | Name |
---|---|---|
Domain | IPR000313 | PWWP domain |
Domain | IPR000432 | DNA mismatch repair protein MutS, C-terminal |
Domain | IPR007695 | DNA mismatch repair protein MutS-like, N-terminal |
Domain | IPR007696 | DNA mismatch repair protein MutS, core |
Domain | IPR007860 | DNA mismatch repair protein MutS, connector domain |
Domain | IPR007861 | DNA mismatch repair protein MutS, clamp |
Family | IPR017261 | DNA mismatch repair protein MutS/MSH |
Family | IPR045076 | DNA mismatch repair MutS |
Homologous_superfamily | IPR016151 | DNA mismatch repair protein MutS, N-terminal |
Homologous_superfamily | IPR027417 | P-loop containing nucleoside triphosphate hydrolase |
Homologous_superfamily | IPR036187 | DNA mismatch repair protein MutS, core domain superfamily |
Homologous_superfamily | IPR036678 | MutS, connector domain superfamily |
Domain Details Per Protein
Protein | Additional Resources | Length | DNA mismatch repair MutS | DNA mismatch repair protein MutS, clamp | DNA mismatch repair protein MutS, connector domain | DNA mismatch repair protein MutS, core | DNA mismatch repair protein MutS, core domain superfamily | DNA mismatch repair protein MutS, C-terminal | DNA mismatch repair protein MutS-like, N-terminal | DNA mismatch repair protein MutS/MSH | DNA mismatch repair protein MutS, N-terminal | MutS, connector domain superfamily | P-loop containing nucleoside triphosphate hydrolase | PWWP domain |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
UniProtKB:Q803S7 | InterPro | 1369 | ||||||||||||
UniProtKB:A0AB32U3T0 | InterPro | 1296 |
Interactions and Pathways
No data available
Plasmids
No data available
No data available
Relationship | Marker Type | Marker | Accession Numbers | Citations |
---|---|---|---|---|
Contained in | Fosmid | CH1073-436F10 | ZFIN Curated Data | |
Contains | SNP | rs3728599 | ZFIN Curated Data | |
Encodes | EST | cb326 | Thisse et al., 2001 | |
Encodes | EST | fb36c12 | ||
Encodes | cDNA | MGC:55252 | ZFIN Curated Data |
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Type | Accession # | Sequence | Length (nt/aa) | Analysis |
---|---|---|---|---|
RNA | RefSeq:NM_182860 (1) | 4385 nt | ||
Genomic | GenBank:CU468002 (1) | 32834 nt | ||
Polypeptide | UniProtKB:Q803S7 (1) | 1369 aa |
- Honjo, Y., Ichinohe, T. (2019) Cellular responses to ionizing radiation change quickly over time during early development in zebrafish. Cell biology international. 43(5):516-527
- Ho, T.N., Paul, G.V., Chen, Y.H., Hsu, T. (2018) Heat stress upregulates G-T mismatch binding activities in zebrafish (Danio rerio) embryos preexposed and nonexposed to a sublethal level of cadmium (Cd). Chemosphere. 218:179-188
- Xia, H., Zhong, C., Wu, X., Chen, J., Tao, B., Xia, X., Shi, M., Zhu, Z., Trudeau, V.L., Hu, W. (2017) Mettl3 Mutation Disrupts Gamete Maturation and Reduces Fertility in Zebrafish.. Genetics. 208(2):729-743
- Leontovich, A.A., Intine, R.V., Sarras, M.P. (2016) Epigenetic Studies Point to DNA Replication/Repair Genes as a Basis for the Heritable Nature of Long Term Complications in Diabetes. Journal of Diabetes Research. 2016:2860780
- Maugars, G., Dufour, S. (2015) Demonstration of the Coexistence of Duplicated LH Receptors in Teleosts, and Their Origin in Ancestral Actinopterygians. PLoS One. 10:e0135184
- Recher, G., Jouralet, J., Brombin, A., Heuzé, A., Mugniery, E., Hermel, J.M., Desnoulez, S., Savy, T., Herbomel, P., Bourrat, F., Peyriéras, N., Jamen, F., and Joly, J.S. (2013) Zebrafish midbrain slow-amplifying progenitors exhibit high levels of transcripts for nucleotide and ribosome biogenesis. Development (Cambridge, England). 140(24):4860-9
- Ritter, D.I., Dong, Z., Guo, S., and Chuang, J.H. (2012) Transcriptional enhancers in protein-coding exons of vertebrate developmental genes. PLoS One. 7(5):e35202
- Mirbahai, L., Williams, T.D., Zhan, H., Gong, Z., and Chipman, J.K. (2011) Comprehensive profiling of zebrafish hepatic proximal promoter CpG island methylation and its modification during chemical carcinogenesis. BMC Genomics. 12:3
- Hsu, T., Tsai, H.T., Huang, K.M., Luan, M.C., and Hsieh, C.R. (2010) Sublethal levels of cadmium down-regulate the gene expression of DNA mismatch recognition protein MutS homolog 6 (MSH6) in zebrafish (Danio rerio) embryos. Chemosphere. 81(6):748-754
- Feitsma, H., Akay, A., and Cuppen, E. (2008) Alkylation damage causes MMR-dependent chromosomal instability in vertebrate embryos. Nucleic acids research. 36(12):4047-4056
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