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MSH6 mutS homolog 6 [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000179 Homo sapiens mutS homolog 6 (MSH6), transcript variant 1, mRNA. GenEZ ORF Cloning On-demand $1699.00 25
NM_001281492 Homo sapiens mutS homolog 6 (MSH6), transcript variant 2, mRNA. GenEZ ORF Cloning On-demand $1699.00 25
NM_001281493 Homo sapiens mutS homolog 6 (MSH6), transcript variant 3, mRNA. GenEZ ORF Cloning On-demand $1699.00 25
NM_001281494 Homo sapiens mutS homolog 6 (MSH6), transcript variant 4, mRNA. GenEZ ORF Cloning On-demand $1699.00 25
XM_005264271 PREDICTED: Homo sapiens mutS homolog 6 (MSH6), transcript variant X1, mRNA. GenEZ ORF Cloning On-demand $1699.00 25

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Related Services

Gene Symbol MSH6
Entrez Gene ID 2956
Full Name mutS homolog 6
Synonyms GTBP, GTMBP, HNPCC5, HSAP, p160
General protein information
Preferred Names
DNA mismatch repair protein Msh6
Names
DNA mismatch repair protein Msh6
p160
GTMBP
hMSH6
sperm-associated protein
mutS-alpha 160 kDa subunit
G/T mismatch-binding protein
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

2

2p16

Summary 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].
Disorder

MIM: 600678

Colorectal cancer, hereditary nonpolyposis, type 5 (3); Endometrial

mRNA Protein Product Sequence Price Select
NM_000179, 157426894 NP_000170, 4504191 DNA mismatch repair protein Msh6 isoform 1 ORF Sequence $1500.00
NM_001281492, 528078295 NP_001268421, 528078296 DNA mismatch repair protein Msh6 isoform 2 ORF Sequence $1500.00
NM_001281493, 528078299 NP_001268422, 528078300 DNA mismatch repair protein Msh6 isoform 3 ORF Sequence $1500.00
NM_001281494, 528078301 NP_001268423, 528078302 DNA mismatch repair protein Msh6 isoform 3 ORF Sequence $1500.00
XM_005264271, 530367496 XP_005264328, 530367497 DNA mismatch repair protein Msh6 isoform X1 ORF Sequence $1500.00
KEGG
hsa03430Mismatch repair
hsa05200Pathways in cancer
hsa05210Colorectal cancer
hsa_M00295BRCA1-associated genome surveillance complex (BASC)
WikiPathways
WP1984Integrated Breast Cancer Pathway
WP531Mismatch repair
WP2261Signaling Pathways in Glioblastoma
WP1971Integrated Cancer pathway
WP2263Prostate Cancer
WP2446RB in Cancer
Homo sapiens (human)MSH6NP_000170.1
Pan troglodytes (chimpanzee)MSH6XP_003309101.1
Macaca mulatta (Rhesus monkey)MSH6XP_001113749.1
Canis lupus familiaris (dog)MSH6XP_531814.2
Bos taurus (cattle)MSH6NP_001179666.1
Mus musculus (house mouse)Msh6NP_034960.1
Rattus norvegicus (Norway rat)LOC100360342XP_006239796.1
Gallus gallus (chicken)MSH6XP_419359.3
Danio rerio (zebrafish)msh6NP_878280.1
Drosophila melanogaster (fruit fly)Msh6NP_648755.1
Caenorhabditis elegansmsh-6NP_491163.1
Arabidopsis thaliana (thale cress)MSH6NP_192116.1
Xenopus (Silurana) tropicalis (western clawed frog)msh6XP_002935421.2
Process
IDNameEvidence
GO:0000710meiotic mismatch repairIBA
GO:0000710meiotic mismatch repairISS
GO:0006200ATP catabolic processIBA
GO:0006200ATP catabolic processIDA
GO:0006281DNA repairIDA
GO:0006298mismatch repairIDA
GO:0006298mismatch repairIGI
GO:0006298mismatch repairIMP
GO:0007131reciprocal meiotic recombinationIBA
GO:0008340determination of adult lifespanISS
GO:0008630intrinsic apoptotic signaling pathway in response to DNA damageIBA
GO:0008630intrinsic apoptotic signaling pathway in response to DNA damageISS
GO:0009411response to UVIBA
GO:0009411response to UVISS
GO:0016446somatic hypermutation of immunoglobulin genesIBA
GO:0016446somatic hypermutation of immunoglobulin genesISS
GO:0016447somatic recombination of immunoglobulin gene segmentsISS
GO:0043570maintenance of DNA repeat elementsIMP
GO:0045190isotype switchingIBA
GO:0045190isotype switchingISS
GO:0045910negative regulation of DNA recombinationIDA
GO:0051096positive regulation of helicase activityIDA
GO:0097193intrinsic apoptotic signaling pathwayISS
Component
IDNameEvidence
GO:0000228nuclear chromosomeIBA
GO:0000790nuclear chromatinIEA
GO:0005634nucleusIDA
GO:0005730nucleolusIDA
GO:0005737cytoplasmIDA
GO:0005794Golgi apparatusIDA
GO:0005886plasma membraneIDA
GO:0032301MutSalpha complexIDA
GO:0043231intracellular membrane-bounded organelleIDA
Function
IDNameEvidence
GO:0000287magnesium ion bindingIDA
GO:0000400four-way junction DNA bindingIDA
GO:0003682chromatin bindingIEA
GO:0003690double-stranded DNA bindingIDA
GO:0005515protein bindingIPI
GO:0005515protein bindingIPI
GO:0005524ATP bindingIDA
GO:0008094DNA-dependent ATPase activityIBA
GO:0016887ATPase activityIDA
GO:0030983mismatched DNA bindingIDA
GO:0030983mismatched DNA bindingIDA
GO:0032137guanine/thymine mispair bindingIDA
GO:0032142single guanine insertion bindingIDA
GO:0032143single thymine insertion bindingIDA
GO:0032357oxidized purine DNA bindingIDA
GO:0032405MutLalpha complex bindingIDA
GO:0035064methylated histone bindingIDA
GO:0042803protein homodimerization activityIPI
GO:0043531ADP bindingIDA
GeneCards MSH6
UniProt P52701, Q3SWU9
MIM 600678
Ensembl ENSG00000116062
HGNC 7329
HPRD 07202

GeneRIFs: Gene References Into Functions What's a GeneRIF?

What is the normal function of the MSH6 gene?

The MSH6 gene provides instructions for making a protein that plays an essential role in repairing DNA. This protein helps fix mistakes that are made when DNA is copied (DNA replication) in preparation for cell division. The MSH6 protein joins with another protein called MSH2 (produced from the MSH2 gene) to form a protein complex. This complex identifies locations on the DNA where mistakes have been made during DNA replication. Another group of proteins, the MLH1-PMS2 protein complex, then repairs the errors. The MSH6 gene is a member of a set of genes known as the mismatch repair (MMR) genes.

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