Gene Symbol | MSH6 |
Entrez ID | 2956 |
Uniprot ID | P52701 |
Description | mutS homolog 6 |
Chromosomal Location | chr2: 47,695,530-47,810,101 |
Ontology | GO ID | GO Term | Definition | Evidence |
---|---|---|---|---|
BP |
GO:0000710 |
meiotic mismatch repair |
A system for the identification and correction of base-base mismatches, small insertion-deletion loops, and regions of heterology that are present in duplex DNA formed with strands from two recombining molecules. Correction of the mismatch can result in non-Mendelian segregation of alleles following meiosis. |
IBA|ISS |
BP |
GO:0006281 |
DNA repair |
The process of restoring DNA after damage. Genomes are subject to damage by chemical and physical agents in the environment (e.g. UV and ionizing radiations, chemical mutagens, fungal and bacterial toxins, etc.) and by free radicals or alkylating agents endogenously generated in metabolism. DNA is also damaged because of errors during its replication. A variety of different DNA repair pathways have been reported that include direct reversal, base excision repair, nucleotide excision repair, photoreactivation, bypass, double-strand break repair pathway, and mismatch repair pathway. |
IDA |
BP |
GO:0006298 |
mismatch repair |
A system for the correction of errors in which an incorrect base, which cannot form hydrogen bonds with the corresponding base in the parent strand, is incorporated into the daughter strand. The mismatch repair system promotes genomic fidelity by repairing base-base mismatches, insertion-deletion loops and heterologies generated during DNA replication and recombination. |
IDA|IGI|IMP|TAS |
BP |
GO:0007131 |
reciprocal meiotic recombination |
The cell cycle process in which double strand breaks are formed and repaired through a double Holliday junction intermediate. This results in the equal exchange of genetic material between non-sister chromatids in a pair of homologous chromosomes. These reciprocal recombinant products ensure the proper segregation of homologous chromosomes during meiosis I and create genetic diversity. |
IBA |
BP |
GO:0008340 |
determination of adult lifespan |
The control of viability and duration in the adult phase of the life-cycle. |
ISS |
BP |
GO:0008630 |
intrinsic apoptotic signaling pathway in response to DNA damage |
A series of molecular signals in which an intracellular signal is conveyed to trigger the apoptotic death of a cell. The pathway is induced by the detection of DNA damage, and ends when the execution phase of apoptosis is triggered. |
ISS |
BP |
GO:0009411 |
response to UV |
Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an ultraviolet radiation (UV light) stimulus. Ultraviolet radiation is electromagnetic radiation with a wavelength in the range of 10 to 380 nanometers. |
IBA|ISS |
BP |
GO:0016032 |
viral process |
A multi-organism process in which a virus is a participant. The other participant is the host. Includes infection of a host cell, replication of the viral genome, and assembly of progeny virus particles. In some cases the viral genetic material may integrate into the host genome and only subsequently, under particular circumstances, 'complete' its life cycle. |
IEA |
BP |
GO:0016446 |
somatic hypermutation of immunoglobulin genes |
Mutations occurring somatically that result in amino acid changes in the rearranged V regions of immunoglobulins. |
ISS |
BP |
GO:0016447 |
somatic recombination of immunoglobulin gene segments |
The process in which immunoglobulin genes are formed through recombination of the germline genetic elements, as known as immunoglobulin gene segments, within a single locus. |
ISS |
BP |
GO:0045190 |
isotype switching |
The switching of activated B cells from IgM biosynthesis to biosynthesis of other isotypes of immunoglobulin, accomplished through a recombination process involving an intrachromosomal deletion involving switch regions that reside 5' of each constant region gene segment in the immunoglobulin heavy chain locus. |
ISS |
BP |
GO:0045830 |
positive regulation of isotype switching |
Any process that activates or increases the frequency, rate or extent of isotype switching. |
IEA |
BP |
GO:0045910 |
negative regulation of DNA recombination |
Any process that stops, prevents, or reduces the frequency, rate or extent of DNA recombination. |
IDA |
BP |
GO:0051096 |
positive regulation of helicase activity |
Any process that activates or increases the activity of a helicase. |
IDA |
BP |
GO:0097193 |
intrinsic apoptotic signaling pathway |
A series of molecular signals in which an intracellular signal is conveyed to trigger the apoptotic death of a cell. The pathway starts with reception of an intracellular signal (e.g. DNA damage, endoplasmic reticulum stress, oxidative stress etc.), and ends when the execution phase of apoptosis is triggered. The intrinsic apoptotic signaling pathway is crucially regulated by permeabilization of the mitochondrial outer membrane (MOMP). |
ISS |
CC |
GO:0000228 |
nuclear chromosome |
A chromosome that encodes the nuclear genome and is found in the nucleus of a eukaryotic cell during the cell cycle phases when the nucleus is intact. |
IBA |
CC |
GO:0000790 |
nuclear chromatin |
The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome in the nucleus. |
IEA |
CC |
GO:0005654 |
nucleoplasm |
That part of the nuclear content other than the chromosomes or the nucleolus. |
IDA|TAS |
CC |
GO:0005737 |
cytoplasm |
All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
IDA |
CC |
GO:0005794 |
Golgi apparatus |
A compound membranous cytoplasmic organelle of eukaryotic cells, consisting of flattened, ribosome-free vesicles arranged in a more or less regular stack. The Golgi apparatus differs from the endoplasmic reticulum in often having slightly thicker membranes, appearing in sections as a characteristic shallow semicircle so that the convex side (cis or entry face) abuts the endoplasmic reticulum, secretory vesicles emerging from the concave side (trans or exit face). In vertebrate cells there is usually one such organelle, while in invertebrates and plants, where they are known usually as dictyosomes, there may be several scattered in the cytoplasm. The Golgi apparatus processes proteins produced on the ribosomes of the rough endoplasmic reticulum; such processing includes modification of the core oligosaccharides of glycoproteins, and the sorting and packaging of proteins for transport to a variety of cellular locations. Three different regions of the Golgi are now recognized both in terms of structure and function: cis, in the vicinity of the cis face, trans, in the vicinity of the trans face, and medial, lying between the cis and trans regions. |
IDA |
CC |
GO:0005886 |
plasma membrane |
The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
IDA |
CC |
GO:0032301 |
MutSalpha complex |
A heterodimer involved in the recognition and repair of base-base and small insertion/deletion mismatches. In human the complex consists of two subunits, MSH2 and MSH6. |
IDA |
CC |
GO:0043231 |
intracellular membrane-bounded organelle |
Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane. |
IDA |
MF |
GO:0000287 |
magnesium ion binding |
Interacting selectively and non-covalently with magnesium (Mg) ions. |
IDA |
MF |
GO:0000400 |
four-way junction DNA binding |
Interacting selectively and non-covalently with DNA containing four-way junctions, also known as Holliday junctions, a structure where two DNA double strands are held together by reciprocal exchange of two of the four strands, one strand each from the two original helices. |
IDA |
MF |
GO:0003682 |
chromatin binding |
Interacting selectively and non-covalently with chromatin, the network of fibers of DNA, protein, and sometimes RNA, that make up the chromosomes of the eukaryotic nucleus during interphase. |
IEA |
MF |
GO:0003690 |
double-stranded DNA binding |
Interacting selectively and non-covalently with double-stranded DNA. |
IDA |
MF |
GO:0005515 |
protein binding |
Interacting selectively and non-covalently with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules). |
IPI |
MF |
GO:0005524 |
ATP binding |
Interacting selectively and non-covalently with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
IDA |
MF |
GO:0016887 |
ATPase activity |
Catalysis of the reaction: ATP + H2O = ADP + phosphate + 2 H+. May or may not be coupled to another reaction. |
IDA |
MF |
GO:0030983 |
mismatched DNA binding |
Interacting selectively and non-covalently with double-stranded DNA containing one or more mismatches. |
IDA |
MF |
GO:0032137 |
guanine/thymine mispair binding |
Interacting selectively and non-covalently with double-stranded DNA containing a G/T mispair. |
IDA |
MF |
GO:0032142 |
single guanine insertion binding |
Interacting selectively and non-covalently with double-stranded DNA containing a single guanine insertion or a deletion that results in an unpaired guanine. |
IDA |
MF |
GO:0032143 |
single thymine insertion binding |
Interacting selectively and non-covalently with double-stranded DNA containing a single thymine insertion or a deletion that results in an unpaired thymine. |
IDA |
MF |
GO:0032357 |
oxidized purine DNA binding |
Interacting selectively and non-covalently with oxidized purine residues in DNA. |
IDA |
MF |
GO:0032405 |
MutLalpha complex binding |
Interacting selectively and non-covalently with the mismatch repair complex MutLalpha. |
IDA |
MF |
GO:0035064 |
methylated histone binding |
Interacting selectively and non-covalently with a histone protein in which a residue has been modified by methylation. Histones are any of a group of water-soluble proteins found in association with the DNA of plant and animal chromosomes. |
IDA |
MF |
GO:0043531 |
ADP binding |
Interacting selectively and non-covalently with ADP, adenosine 5'-diphosphate. |
IDA |
Domain ID | Description |
---|---|
IPR000313 |
PWWP domain |
IPR000432 |
DNA mismatch repair protein MutS, C-terminal |
IPR007695 |
DNA mismatch repair protein MutS-like, N-terminal |
IPR007696 |
DNA mismatch repair protein MutS, core |
IPR007860 |
DNA mismatch repair protein MutS, connector domain |
IPR007861 |
DNA mismatch repair protein MutS, clamp |
IPR015536 |
DNA mismatch repair protein MutS-homologue MSH6 |
IPR016151 |
DNA mismatch repair protein MutS, N-terminal |
IPR027417 |
P-loop containing nucleoside triphosphate hydrolase |
Pathway ID | Pathway Term | Pathway Source |
---|---|---|
hsa01524 |
Platinum drug resistance |
KEGG |
hsa03430 |
Mismatch repair |
KEGG |
hsa05200 |
Pathways in cancer |
KEGG |
hsa05210 |
Colorectal cancer |
KEGG |
WP1984 |
Integrated Breast Cancer Pathway |
WikiPathways |
WP1971 |
Integrated Cancer Pathway |
WikiPathways |
WP2261 |
Signaling Pathways in Glioblastoma |
WikiPathways |
WP531 |
Mismatch repair |
WikiPathways |
WP2446 |
Retinoblastoma (RB) in Cancer |
WikiPathways |
UMLS CUI | UMLS Term |
---|---|
C0009405 |
Hereditary Nonpolyposis Colorectal Neoplasms |
C0014170 |
Endometrial Neoplasms |
C0017661 |
Iga Glomerulonephritis |
C0027672 |
Neoplastic Syndromes, Hereditary |
C0031117 |
Peripheral Neuropathy |
C0476089 |
Endometrial Carcinoma |
C0920269 |
Microsatellite Instability |
C1321489 |
Torre-Muir Syndrome |
C1333990 |
Hereditary Nonpolyposis Colorectal Cancer |
Tissue | Cell Type |
---|---|
adrenal gland |
glandular cells |
lymph node |
germinal center cells |
placenta |
trophoblastic cells |
testis |
cells in seminiferous ducts |
tonsil |
germinal center cells |
Pubmed ID | Author | Year | Title |
---|---|---|---|
22617121 |
Ouandaogo et al. |
2012 |
Differences in transcriptomic profiles of human cumulus cells isolated from oocytes at GV, MI and MII stages after in vivo andin vitro oocyte maturation |
Gene Symbol | Entrez ID | Uniprot ID | Score |
---|---|---|---|
FEN1 |
2237 |
P39748 |
0.49 |
HDGF |
3068 |
P51858 |
0.49 |
MAP2K1 |
5604 |
Q02750 |
0.49 |
RAD21 |
5885 |
O60216 |
0.49 |
SUPT16H |
11198 |
Q9Y5B9 |
0.49 |
ANKRD17 |
26057 |
O75179 |
0.49 |
ATM |
472 |
Q13315 |
0.55 |
RFC1 |
5981 |
P35251 |
0.55 |
CHEK1 |
1111 |
O14757 |
0.63 |
H3F3A; H3F3B |
3020 |
P84243 |
0.63 |
PMS1 |
5378 |
P54277 |
0.63 |
PRKDC |
5591 |
P78527 |
0.63 |
RPL31 |
6160 |
P62899 |
0.63 |
SUPT5H |
6829 |
O00267 |
0.63 |
XRCC5 |
7520 |
P13010 |
0.63 |
PARP2 |
10038 |
Q9UGN5 |
0.63 |
TOPBP1 |
11073 |
Q92547 |
0.63 |
SAMHD1 |
25939 |
Q9Y3Z3 |
0.63 |
CLSPN |
63967 |
Q9HAW4 |
0.63 |
ATR |
545 |
Q13535 |
0.70 |
CSNK2A1 |
1457 |
P68400 |
0.70 |
MUTYH |
4595 |
Q9UIF7 |
0.71 |
BRINP1 |
1620 |
O60477 |
0.72 |
DECR1 |
1666 |
Q16698 |
0.72 |
STX3 |
6809 |
Q13277 |
0.72 |
AKR7A2 |
8574 |
O43488 |
0.72 |
RUSC2 |
9853 |
Q8N2Y8 |
0.72 |
KIAA1191 |
57179 |
Q96A73 |
0.72 |
CHD8 |
57680 |
Q9HCK8 |
0.72 |
SMC1A |
8243 |
Q14683 |
0.75 |
CHAF1A |
10036 |
Q13111 |
0.75 |
BLM |
641 |
P54132 |
0.77 |
MLH1 |
4292 |
P40692 |
0.87 |
PCNA |
5111 |
P12004 |
0.97 |
MSH2 |
4436 |
P43246 |
0.99 |
E2F3 |
1871 |
O00716 |
0.07 |
HRAS |
3265 |
P01112 |
0.49 |
PRDX1 |
5052 |
Q06830 |
0.49 |
POLE |
5426 |
Q07864 |
0.49 |
PRDX2 |
7001 |
P32119 |
0.49 |
SMC3 |
9126 |
Q9UQE7 |
0.49 |
NANS |
54187 |
Q9NR45 |
0.49 |
CEP19 |
84984 |
Q96LK0 |
0.49 |
MRE11A |
4361 |
P49959 |
0.55 |
NBN |
4683 |
O60934 |
0.55 |
RAD50 |
10111 |
Q92878 |
0.55 |
MSH3 |
4437 |
P20585 |
0.56 |
SUMO1 |
7341 |
P63165 |
0.56 |
AIRE |
326 |
O43918 |
0.63 |
CDC5L |
988 |
Q99459 |
0.63 |
ESR1 |
2099 |
P03372 |
0.63 |
IFI16 |
3428 |
Q16666 |
0.63 |
MCC |
4163 |
P23508 |
0.63 |
NEDD8 |
4738 |
Q15843 |
0.63 |
NTRK1 |
4914 |
P04629 |
0.63 |
PRKCZ |
5590 |
Q05513 |
0.63 |
PSMD4 |
5710 |
P55036 |
0.63 |
RAD51 |
5888 |
Q06609 |
0.63 |
RPS6KB2 |
6199 |
Q9UBS0 |
0.63 |
STK4 |
6789 |
Q13043 |
0.63 |
TP53 |
7157 |
P04637 |
0.63 |
YY1 |
7528 |
P25490 |
0.63 |
CUL3 |
8452 |
Q13618 |
0.63 |
AIM2 |
9447 |
O14862 |
0.63 |
KIAA0101 |
9768 |
Q15004 |
0.63 |
PTBP3 |
9991 |
O95758 |
0.63 |
HYOU1 |
10525 |
Q9Y4L1 |
0.63 |
UBD |
10537 |
O15205 |
0.63 |
MORF4L1 |
10933 |
Q9UBU8 |
0.63 |
GABARAP |
11337 |
O95166 |
0.63 |
SNW1 |
22938 |
Q13573 |
0.63 |
GANAB |
23193 |
Q14697 |
0.63 |
KANK2 |
25959 |
Q63ZY3 |
0.63 |
FBXO25 |
26260 |
Q8TCJ0 |
0.63 |
POLK |
51426 |
Q9UBT6 |
0.63 |
DTL |
51514 |
Q9NZJ0 |
0.63 |
SIRT7 |
51547 |
Q9NRC8 |
0.63 |
SIRT6 |
51548 |
Q8N6T7 |
0.63 |
MED9 |
55090 |
Q9NWA0 |
0.63 |
SMARCAD1 |
56916 |
Q9H4L7 |
0.63 |
SLX4 |
84464 |
Q8IY92 |
0.63 |
MAP1LC3A |
84557 |
Q9H492 |
0.63 |
UNK |
85451 |
Q9C0B0 |
0.63 |
CREBBP |
1387 |
Q92793 |
0.67 |
EP300 |
2033 |
Q09472 |
0.67 |
ATP6V1B2 |
526 |
P21281 |
0.70 |
HUS1 |
3364 |
O60921 |
0.72 |
RAD1 |
5810 |
O60671 |
0.72 |
RAD9A |
5883 |
Q99638 |
0.72 |
HDAC11 |
79885 |
Q96DB2 |
0.72 |
SUMO2 |
6613 |
P61956 |
0.74 |
CASP4 |
837 |
P49662 |
0.76 |
XRCC6 |
2547 |
P12956 |
0.82 |
BARD1 |
580 |
Q99728 |
0.84 |
MYC |
4609 |
P01106 |
0.88 |
PMS2 |
5395 |
P54278 |
0.89 |
BRCA1 |
672 |
P38398 |
0.90 |