Homo sapiens Gene: MSH6
Summary
InnateDB Gene IDBG-51044.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol MSH6
Gene Name mutS homolog 6 (E. coli)
Synonyms GTBP; GTMBP; HNPCC5; HSAP; p160;
Species Homo sapiens
Ensembl Gene ENSG00000116062
Encoded Proteins
mutS homolog 6 (E. coli)
mutS homolog 6 (E. coli)
mutS homolog 6 (E. coli)
mutS homolog 6 (E. coli)
mutS homolog 6 (E. coli)
mutS homolog 6 (E. coli)
mutS homolog 6 (E. coli)
mutS homolog 6 (E. coli)
mutS homolog 6
mutS homolog 6
mutS homolog 6
mutS homolog 6
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene 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. [provided by RefSeq, Jul 2008]
This gene encodes a member of the DNA mismatch repair MutS family. 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 heterodimerizes 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 may be associated with hereditary nonpolyposis colon cancer, colorectal cancer, and endometrial cancer. Transcripts variants encoding different isoforms have been described. [provided by RefSeq, Jul 2013]
Gene Information
Type Protein coding
Genomic Location Chromosome 2:47695530-47810101
Strand Forward strand
Band p16.3
Transcripts
ENST00000234420 ENSP00000234420
ENST00000445503 ENSP00000405294
ENST00000456246 ENSP00000410570
ENST00000455383 ENSP00000397484
ENST00000420813 ENSP00000390382
ENST00000411819 ENSP00000406248
ENST00000493177
ENST00000540021 ENSP00000446475
ENST00000538136 ENSP00000438580
ENST00000607272
ENST00000606499 ENSP00000475605
ENST00000614496 ENSP00000477844
ENST00000616033 ENSP00000480261
ENST00000622629 ENSP00000482078
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 86 experimentally validated interaction(s) in this database.
They are also associated with 5 interaction(s) predicted by orthology.
Experimentally validated
Total 88 [view]
Protein-Protein 85 [view]
Protein-DNA 3 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 5 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0000287 magnesium ion binding
GO:0000400 four-way junction DNA binding
GO:0003677 DNA binding
GO:0003682 chromatin binding
GO:0003684 damaged DNA binding
GO:0003690 double-stranded DNA binding
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0008094 DNA-dependent ATPase activity
GO:0016887 ATPase activity
GO:0030983 mismatched DNA binding
GO:0032137 guanine/thymine mispair binding
GO:0032142 single guanine insertion binding
GO:0032143 single thymine insertion binding
GO:0032357 oxidized purine DNA binding
GO:0032405 MutLalpha complex binding
GO:0035064 methylated histone binding
GO:0043531 ADP binding
Biological Process
GO:0000710 meiotic mismatch repair
GO:0006200 ATP catabolic process
GO:0006281 DNA repair
GO:0006298 mismatch repair
GO:0007131 reciprocal meiotic recombination
GO:0008340 determination of adult lifespan
GO:0008630 intrinsic apoptotic signaling pathway in response to DNA damage
GO:0009411 response to UV
GO:0016446 somatic hypermutation of immunoglobulin genes
GO:0016447 somatic recombination of immunoglobulin gene segments
GO:0045190 isotype switching
GO:0045910 negative regulation of DNA recombination
GO:0051096 positive regulation of helicase activity
GO:0097193 intrinsic apoptotic signaling pathway
Cellular Component
GO:0000228 nuclear chromosome
GO:0000790 nuclear chromatin
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005794 Golgi apparatus
GO:0005886 plasma membrane
GO:0032301 MutSalpha complex
GO:0043231 intracellular membrane-bounded organelle
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Mismatch repair (MMR) directed by MSH2:MSH6 (MutSalpha) pathway
Mismatch Repair pathway
DNA Repair pathway
KEGG
Mismatch repair pathway
Pathways in cancer pathway
Colorectal cancer pathway
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene
RefSeq NM_000179 NM_001281492 NM_001281493 NM_001281494 XM_005264271
HUGO
OMIM
CCDS CCDS1836 CCDS62906 CCDS62907
HPRD
IMGT
EMBL
GenPept
RNA Seq Atlas