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MutS Homolog 6 (MSH6)

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GTBP; HNPCC5; HSAP; GTMBP; p160; G/T mismatch-binding protein; MutS-alpha 160 kDa subunit; DNA mismatch repair protein Msh6

MutS Homolog 6 (MSH6)
CCC L068
HGNC 7329
MGI 1343961
PubMed 21710692
UniProt P52701
Wiki MSH6
MSH6 encodes a protein similar to the MutS protein. In E. coli, the MutS protein helps in the recognition of mismatched nucleotides, prior to their repair. A highly conserved region of approximately 150 aa, called the Walker-A adenine nucleotide binding motif, exists in MutS homologs.
The encoded protein of this gene combines with MSH2 to form a mismatch recognition complex that functions as a bidirectional molecular switch that exchanges ADP and ATP as DNA mismatches are bound and dissociated. Mutations in this gene have been identified in individuals with hereditary nonpolyposis colon cancer (HNPCC) and endometrial cancer.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant MutS Homolog 6 (MSH6) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to MutS Homolog 6 (MSH6) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to MutS Homolog 6 (MSH6) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for MutS Homolog 6 (MSH6) CLIA Kit Customized Service Offer
n/a ELISA Kit for MutS Homolog 6 (MSH6) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant MutS Homolog 6 (MSH6) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to MutS Homolog 6 (MSH6) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to MutS Homolog 6 (MSH6) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for MutS Homolog 6 (MSH6) CLIA Kit Customized Service Offer
n/a ELISA Kit for MutS Homolog 6 (MSH6) ELISA Kit Customized Service Offer
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  2. "Alternative splicing of GTBP in normal human tissues."DNA Res. 4:359-362(1997) [PubMed] [Europe PMC] [Abstract]
  3. "Complete sequencing and characterization of 21,243 full-length human cDNAs." Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
  4. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4." Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
  5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  6. "GTBP, a 160-kilodalton protein essential for mismatch-binding activity in human cells."Science 268:1912-1914(1995) [PubMed] [Europe PMC] [Abstract]
  7. "Molecular cloning of the N-terminus of GTBP."Genomics 31:395-397(1996) [PubMed] [Europe PMC] [Abstract]
  8. "Isolation of an hMSH2-p160 heterodimer that restores DNA mismatch repair to tumor cells."Science 268:1909-1912(1995) [PubMed] [Europe PMC] [Abstract]
  9. "Nucleotide-promoted release of hMutSalpha from heteroduplex DNA is consistent with an ATP-dependent translocation mechanism."J. Biol. Chem. 273:32055-32062(1998) [PubMed] [Europe PMC] [Abstract]
  10. "DNA-dependent activation of the hMutSalpha ATPase."J. Biol. Chem. 273:32049-32054(1998) [PubMed] [Europe PMC] [Abstract]
  11. "hMSH2 and hMSH6 play distinct roles in mismatch binding and contribute differently to the ATPase activity of hMutSalpha."EMBO J. 17:2677-2686(1998) [PubMed] [Europe PMC] [Abstract]
  12. "Functional analysis of human MutSalpha and MutSbeta complexes in yeast."Nucleic Acids Res. 27:736-742(1999) [PubMed] [Europe PMC] [Abstract]
  13. "hMSH2-hMSH6 forms a hydrolysis-independent sliding clamp on mismatched DNA."Mol. Cell 3:255-261(1999) [PubMed] [Europe PMC] [Abstract]
  14. "The role of mismatched nucleotides in activating the hMSH2-hMSH6 molecular switch."J. Biol. Chem. 275:3922-3930(2000) [PubMed] [Europe PMC] [Abstract]
  15. "The mismatch DNA repair heterodimer, hMSH2/6, regulates BLM helicase."Oncogene 23:3749-3756(2004) [PubMed] [Europe PMC] [Abstract]
  16. "hMutS alpha is protected from ubiquitin-proteasome-dependent degradation by atypical protein kinase C zeta phosphorylation."J. Mol. Biol. 348:63-74(2005) [PubMed] [Europe PMC] [Abstract]
  17. "BASC, a super complex of BRCA1-associated proteins involved in the recognition and repair of aberrant DNA structures."Genes Dev. 14:927-939(2000) [PubMed] [Europe PMC] [Abstract]
  18. "Germline mutation of MSH6 as the cause of hereditary nonpolyposis colorectal cancer."Nat. Genet. 17:271-272(1997) [PubMed] [Europe PMC] [Abstract]
  19. "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks."Cell 127:635-648(2006) [PubMed] [Europe PMC] [Abstract]
  20. "A probability-based approach for high-throughput protein phosphorylation analysis and site localization."Nat. Biotechnol. 24:1285-1292(2006) [PubMed] [Europe PMC] [Abstract]
  21. "Novel biallelic mutations in MSH6 and PMS2 genes: gene conversion as a likely cause of PMS2 gene inactivation."Hum. Mutat. 28:1084-1090(2007) [PubMed] [Europe PMC] [Abstract]
  22. "ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage."Science 316:1160-1166(2007) [PubMed] [Europe PMC] [Abstract]
  23. "Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis."J. Proteome Res. 7:1346-1351(2008) [PubMed] [Europe PMC] [Abstract]
  24. "Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle."Mol. Cell 31:438-448(2008) [PubMed] [Europe PMC] [Abstract]
  25. "A quantitative atlas of mitotic phosphorylation."Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]
  26. "Lysine acetylation targets protein complexes and co-regulates major cellular functions."Science 325:834-840(2009) [PubMed] [Europe PMC] [Abstract]
  27. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
  28. "Initial characterization of the human central proteome."BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
  29. "DNA mismatch repair proteins are required for efficient herpes simplex virus 1 replication."J. Virol. 85:12241-12253(2011) [PubMed] [Europe PMC] [Abstract]
  30. "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
  31. "The histone mark H3K36me3 regulates human DNA mismatch repair through its interaction with MutSalpha."Cell 153:590-600(2013) [PubMed] [Europe PMC] [Abstract]
  32. "Structure of the human MutSalpha DNA lesion recognition complex."Mol. Cell 26:579-592(2007) [PubMed] [Europe PMC] [Abstract]
  33. "Mutations of GTBP in genetically unstable cells."Science 268:1915-1917(1995) [PubMed] [Europe PMC] [Abstract]
  34. "Association of hereditary nonpolyposis colorectal cancer-related tumors displaying low microsatellite instability with MSH6 germline mutations."Am. J. Hum. Genet. 65:1291-1298(1999) [PubMed] [Europe PMC] [Abstract]
  35. "Germ-line msh6 mutations in colorectal cancer families."Cancer Res. 59:5068-5074(1999) [PubMed] [Europe PMC] [Abstract]
  36. "Prevalence of germline mutations of hMLH1, hMSH2, hPMS1, hPMS2, and hMSH6 genes in 75 French kindreds with nonpolyposis colorectal cancer."Hum. Genet. 105:79-85(1999) [PubMed] [Europe PMC] [Abstract]
  37. "Frequent microsatellite instability and mismatch repair gene mutations in young Chinese patients with colorectal cancer."J. Natl. Cancer Inst. 91:1221-1226(1999) [PubMed] [Europe PMC] [Abstract]
  38. "Do MSH6 mutations contribute to double primary cancers of the colorectum and endometrium?"Hum. Genet. 107:623-629(2000) [PubMed] [Europe PMC] [Abstract]
  39. "Sequence analysis of the mismatch repair gene hMSH6 in the germline of patients with familial and sporadic colorectal cancer."Int. J. Cancer 85:606-613(2000) [PubMed] [Europe PMC] [Abstract]
  40. "Germline and somatic mutations in hMSH6 and hMSH3 in gastrointestinal cancers of the microsatellite mutator phenotype."Gene 272:301-313(2001) [PubMed] [Europe PMC] [Abstract]
  41. "A role for MLH3 in hereditary nonpolyposis colorectal cancer."Nat. Genet. 29:137-138(2001) [PubMed] [Europe PMC] [Abstract]
  42. "Molecular and clinical characteristics of MSH6 variants: an analysis of 25 index carriers of a germline variant."Am. J. Hum. Genet. 70:26-37(2002) [PubMed] [Europe PMC] [Abstract]
  43. "Involvement of hMSH6 in the development of hereditary and sporadic colorectal cancer revealed by immunostaining is based on germline mutations, but rarely on somatic inactivation."Int. J. Cancer 97:643-648(2002) [PubMed] [Europe PMC] [Abstract]
  44. "Molecular analysis of hereditary nonpolyposis colorectal cancer in the United States: high mutation detection rate among clinically selected families and characterization of an American founder genomic deletion of the MSH2 gene." Am. J. Hum. Genet. 72:1088-1100(2003) [PubMed] [Europe PMC] [Abstract]
  45. "Two mismatch repair gene mutations found in a colon cancer patient - which one is pathogenic?"Hum. Genet. 112:105-109(2003) [PubMed] [Europe PMC] [Abstract]
  46. "MSH6 germline mutations are rare in colorectal cancer families."Int. J. Cancer 107:571-579(2003) [PubMed] [Europe PMC] [Abstract]
  47. "MSH6 missense mutations are often associated with no or low cancer susceptibility."Br. J. Cancer 91:1287-1292(2004) [PubMed] [Europe PMC] [Abstract]
  48. "Eight novel MSH6 germline mutations in patients with familial and nonfamilial colorectal cancer selected by loss of protein expression in tumor tissue."Hum. Mutat. 23:285-285(2004) [PubMed] [Europe PMC] [Abstract]
  49. "Germline mutations in MLH1, MSH2 and MSH6 in Korean hereditary non-polyposis colorectal cancer families."Hum. Mutat. 24:351-351(2004) [PubMed] [Europe PMC] [Abstract]
  50. "Mutation analysis of the MLH1, MSH2 and MSH6 genes in patients with double primary cancers of the colorectum and the endometrium: a population-based study in northern Sweden."Int. J. Cancer 109:370-376(2004) [PubMed] [Europe PMC] [Abstract]
  51. "Lower incidence of colorectal cancer and later age of disease onset in 27 families with pathogenic MSH6 germline mutations compared with families with MLH1 or MSH2 mutations: the German hereditary nonpolyposis colorectal cancer consortium."J. Clin. Oncol. 22:4486-4494(2004) [PubMed] [Europe PMC] [Abstract]
  52. "Patterns of somatic mutation in human cancer genomes." Nature 446:153-158(2007) [PubMed] [Europe PMC] [Abstract]
  53. "Classification of ambiguous mutations in DNA mismatch repair genes identified in a population-based study of colorectal cancer."Hum. Mutat. 29:367-374(2008) [PubMed] [Europe PMC] [Abstract]
  54. "A rapid and cell-free assay to test the activity of lynch syndrome-associated MSH2 and MSH6 missense variants."Hum. Mutat. 33:488-494(2012) [PubMed] [Europe PMC] [Abstract]
  55. "Mismatch repair analysis of inherited MSH2 and/or MSH6 variation pairs found in cancer patients."Hum. Mutat. 33:1294-1301(2012) [PubMed] [Europe PMC] [Abstract]