InnateDB: Systems Biology of the Innate Immune Response

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

IDBP-51048

mutS homolog 6 (E. coli)

IDBP-374999

mutS homolog 6 (E. coli)

IDBP-375009

mutS homolog 6 (E. coli)

IDBP-375010

mutS homolog 6 (E. coli)

IDBP-375011

mutS homolog 6 (E. coli)

IDBP-375012

mutS homolog 6 (E. coli)

IDBP-588284

mutS homolog 6 (E. coli)

IDBP-596332

mutS homolog 6 (E. coli)

IDBP-808347

mutS homolog 6

IDBP-808381

mutS homolog 6

IDBP-808385

mutS homolog 6

IDBP-808396

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

ENSMUSG00000005370

View Gene Order

ENSBTAG00000001424

Not yet available

Pathways

NETPATH

REACTOME

REACT_228145

Mismatch repair (MMR) directed by MSH2:MSH6 (MutSalpha) pathway

REACT_228013

Mismatch Repair pathway

REACT_216

DNA Repair pathway

KEGG

hsa05210

Colorectal cancer pathway

hsa03430

Mismatch repair pathway

hsa05200

Pathways in cancer pathway

INOH

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