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Gene id

2956

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

Gene Summary

Gene Symbol

MSH6 Gene UCSC Ensembl

Aliases

GTBP, GTMBP, HNPCC5, HSAP, p160

Gene name

mutS homolog 6

Alternate names

DNA mismatch repair protein Msh6, G/T mismatch-binding protein, mutS protein homolog 6, mutS-alpha 160 kDa subunit, sperm-associated protein,

Gene location

2p16.3 (47783081: 47806952) Exons: 12 NC_000002.12

Gene summary(Entrez)

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]

OMIM

600678

Protein Summary

Protein general information

P52701

Name: DNA mismatch repair protein Msh6 (hMSH6) (G/T mismatch binding protein) (GTBP) (GTMBP) (MutS protein homolog 6) (MutS alpha 160 kDa subunit) (p160)

Length: 1360 Mass: 152,786

Sequence

MSRQSTLYSFFPKSPALSDANKASARASREGGRAAAAPGASPSPGGDAAWSEAGPGPRPLARSASPPKAKNLNGG
LRRSVAPAAPTSCDFSPGDLVWAKMEGYPWWPCLVYNHPFDGTFIREKGKSVRVHVQFFDDSPTRGWVSKRLLKP
YTGSKSKEAQKGGHFYSAKPEILRAMQRADEALNKDKIKRLELAVCDEPSEPEEEEEMEVGTTYVTDKSEEDNEI
ESEEEVQPKTQGSRRSSRQIKKRRVISDSESDIGGSDVEFKPDTKEEGSSDEISSGVGDSESEGLNSPVKVARKR
KRMVTGNGSLKRKSSRKETPSATKQATSISSETKNTLRAFSAPQNSESQAHVSGGGDDSSRPTVWYHETLEWLKE
EKRRDEHRRRPDHPDFDASTLYVPEDFLNSCTPGMRKWWQIKSQNFDLVICYKVGKFYELYHMDALIGVSELGLV
FMKGNWAHSGFPEIAFGRYSDSLVQKGYKVARVEQTETPEMMEARCRKMAHISKYDRVVRREICRIITKGTQTYS
VLEGDPSENYSKYLLSLKEKEEDSSGHTRAYGVCFVDTSLGKFFIGQFSDDRHCSRFRTLVAHYPPVQVLFEKGN
LSKETKTILKSSLSCSLQEGLIPGSQFWDASKTLRTLLEEEYFREKLSDGIGVMLPQVLKGMTSESDSIGLTPGE
KSELALSALGGCVFYLKKCLIDQELLSMANFEEYIPLDSDTVSTTRSGAIFTKAYQRMVLDAVTLNNLEIFLNGT
NGSTEGTLLERVDTCHTPFGKRLLKQWLCAPLCNHYAINDRLDAIEDLMVVPDKISEVVELLKKLPDLERLLSKI
HNVGSPLKSQNHPDSRAIMYEETTYSKKKIIDFLSALEGFKVMCKIIGIMEEVADGFKSKILKQVISLQTKNPEG
RFPDLTVELNRWDTAFDHEKARKTGLITPKAGFDSDYDQALADIRENEQSLLEYLEKQRNRIGCRTIVYWGIGRN
RYQLEIPENFTTRNLPEEYELKSTKKGCKRYWTKTIEKKLANLINAEERRDVSLKDCMRRLFYNFDKNYKDWQSA
VECIAVLDVLLCLANYSRGGDGPMCRPVILLPEDTPPFLELKGSRHPCITKTFFGDDFIPNDILIGCEEEEQENG
KAYCVLVTGPNMGGKSTLMRQAGLLAVMAQMGCYVPAEVCRLTPIDRVFTRLGASDRIMSGESTFFVELSETASI
LMHATAHSLVLVDELGRGTATFDGTAIANAVVKELAETIKCRTLFSTHYHSLVEDYSQNVAVRLGHMACMVENEC
EDPSQETITFLYKFIKGACPKSYGFNAARLANLPEEVIQKGHRKAREFEKMNQSLRLFREVCLASERSTVDAEAV
HKLLTLIKEL

Structural information

Protein Domains	PWWP. (92-154)
Interpro:	IPR015536 IPR007695 IPR000432 IPR007861 IPR007696 IPR016151 IPR007860 IPR027417 IPR000313
Prosite:	PS00486 PS50812
Pfam:	PF01624 PF05188 PF05192 PF05190 PF00488 PF00855
PDB:	2GFU 2O8B 2O8C 2O8D 2O8E 2O8F
PDBsum:	2GFU 2O8B 2O8C 2O8D 2O8E 2O8F
DIP:	32972
MINT:	131993
STRING:	ENSP00000234420;

Other Databases

GeneCards: MSH6; Malacards: MSH6

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000228	nuclear chromosome	IBA	cellular_component
GO:0000710	meiotic mismatch repair	ISS	biological_process
GO:0000710	meiotic mismatch repair	IBA	biological_process
GO:0000790	nuclear chromatin	IEA	cellular_component
GO:0003682	chromatin binding	IEA	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005654	nucleoplasm	IDA	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005737	cytoplasm	IDA	cellular_component
GO:0005794	Golgi apparatus	IDA	cellular_component
GO:0005886	plasma membrane	IDA	cellular_component
GO:0006281	DNA repair	IDA	biological_process
GO:0006298	mismatch repair	IDA	biological_process
GO:0006298	mismatch repair	IGI	biological_process
GO:0006298	mismatch repair	IDA	biological_process
GO:0006298	mismatch repair	IMP	biological_process
GO:0006298	mismatch repair	TAS	biological_process
GO:0007131	reciprocal meiotic recomb ination	IBA	biological_process
GO:0008340	determination of adult li fespan	ISS	biological_process
GO:0008630	intrinsic apoptotic signa ling pathway in response to DNA damage	ISS	biological_process
GO:0009411	response to UV	ISS	biological_process
GO:0009411	response to UV	IBA	biological_process
GO:0016032	viral process	IEA	biological_process
GO:0016446	somatic hypermutation of immunoglobulin genes	ISS	biological_process
GO:0016447	somatic recombination of immunoglobulin gene segme nts	ISS	biological_process
GO:0030983	mismatched DNA binding	IDA	molecular_function
GO:0032301	MutSalpha complex	IDA	cellular_component
GO:0032301	MutSalpha complex	IDA	cellular_component
GO:0035064	methylated histone bindin g	IDA	molecular_function
GO:0043231	intracellular membrane-bo unded organelle	IDA	cellular_component
GO:0045190	isotype switching	ISS	biological_process
GO:0045830	positive regulation of is otype switching	IEA	biological_process
GO:0045910	negative regulation of DN A recombination	IDA	biological_process
GO:0051096	positive regulation of he licase activity	IDA	biological_process
GO:0097193	intrinsic apoptotic signa ling pathway	ISS	biological_process
GO:0042803	protein homodimerization activity	IPI	molecular_function
GO:0043570	maintenance of DNA repeat elements	IMP	biological_process
GO:0000287	magnesium ion binding	IDA	molecular_function
GO:0000400	four-way junction DNA bin ding	IDA	molecular_function
GO:0003690	double-stranded DNA bindi ng	IDA	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005524	ATP binding	IDA	molecular_function
GO:0016887	ATPase activity	IDA	molecular_function
GO:0030983	mismatched DNA binding	IDA	molecular_function
GO:0030983	mismatched DNA binding	IDA	molecular_function
GO:0030983	mismatched DNA binding	IDA	molecular_function
GO:0032137	guanine/thymine mispair b inding	IDA	molecular_function
GO:0032137	guanine/thymine mispair b inding	IDA	molecular_function
GO:0032142	single guanine insertion binding	IDA	molecular_function
GO:0032143	single thymine insertion binding	IDA	molecular_function
GO:0032357	oxidized purine DNA bindi ng	IDA	molecular_function
GO:0032357	oxidized purine DNA bindi ng	IDA	molecular_function
GO:0032405	MutLalpha complex binding	IDA	molecular_function
GO:0043531	ADP binding	IDA	molecular_function
GO:0000166	nucleotide binding	IEA	molecular_function
GO:0000228	nuclear chromosome	IBA	cellular_component
GO:0000710	meiotic mismatch repair	ISS	biological_process
GO:0000710	meiotic mismatch repair	IBA	biological_process
GO:0000790	nuclear chromatin	IEA	cellular_component
GO:0003677	DNA binding	IEA	molecular_function
GO:0003677	DNA binding	IEA	molecular_function
GO:0003682	chromatin binding	IEA	molecular_function
GO:0003684	damaged DNA binding	IEA	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005524	ATP binding	IEA	molecular_function
GO:0005524	ATP binding	IEA	molecular_function
GO:0005634	nucleus	IEA	cellular_component
GO:0005634	nucleus	IEA	cellular_component
GO:0005654	nucleoplasm	IDA	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005694	chromosome	IEA	cellular_component
GO:0005694	chromosome	IEA	cellular_component
GO:0005737	cytoplasm	IDA	cellular_component
GO:0005794	Golgi apparatus	IDA	cellular_component
GO:0005886	plasma membrane	IDA	cellular_component
GO:0006281	DNA repair	IEA	biological_process
GO:0006281	DNA repair	IDA	biological_process
GO:0006298	mismatch repair	IEA	biological_process
GO:0006298	mismatch repair	IEA	biological_process
GO:0006298	mismatch repair	IDA	biological_process
GO:0006298	mismatch repair	IGI	biological_process
GO:0006298	mismatch repair	IDA	biological_process
GO:0006298	mismatch repair	IMP	biological_process
GO:0006298	mismatch repair	TAS	biological_process
GO:0006974	cellular response to DNA damage stimulus	IEA	biological_process
GO:0007131	reciprocal meiotic recomb ination	IBA	biological_process
GO:0008340	determination of adult li fespan	IEA	biological_process
GO:0008340	determination of adult li fespan	ISS	biological_process
GO:0008630	intrinsic apoptotic signa ling pathway in response to DNA damage	ISS	biological_process
GO:0009411	response to UV	IEA	biological_process
GO:0009411	response to UV	ISS	biological_process
GO:0009411	response to UV	IBA	biological_process
GO:0016032	viral process	IEA	biological_process
GO:0016446	somatic hypermutation of immunoglobulin genes	ISS	biological_process
GO:0016447	somatic recombination of immunoglobulin gene segme nts	IEA	biological_process
GO:0016447	somatic recombination of immunoglobulin gene segme nts	ISS	biological_process
GO:0030983	mismatched DNA binding	IEA	molecular_function
GO:0030983	mismatched DNA binding	IDA	molecular_function
GO:0032137	guanine/thymine mispair b inding	IEA	molecular_function
GO:0032301	MutSalpha complex	IEA	cellular_component
GO:0032301	MutSalpha complex	IDA	cellular_component
GO:0032301	MutSalpha complex	IDA	cellular_component
GO:0035064	methylated histone bindin g	IDA	molecular_function
GO:0043231	intracellular membrane-bo unded organelle	IDA	cellular_component
GO:0045190	isotype switching	ISS	biological_process
GO:0045830	positive regulation of is otype switching	IEA	biological_process
GO:0045910	negative regulation of DN A recombination	IEA	biological_process
GO:0045910	negative regulation of DN A recombination	IDA	biological_process
GO:0051096	positive regulation of he licase activity	IDA	biological_process
GO:0097193	intrinsic apoptotic signa ling pathway	IEA	biological_process
GO:0097193	intrinsic apoptotic signa ling pathway	ISS	biological_process
GO:0042803	protein homodimerization activity	IPI	molecular_function
GO:0043570	maintenance of DNA repeat elements	IMP	biological_process
GO:0000287	magnesium ion binding	IDA	molecular_function
GO:0000400	four-way junction DNA bin ding	IDA	molecular_function
GO:0003690	double-stranded DNA bindi ng	IDA	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005524	ATP binding	IDA	molecular_function
GO:0016887	ATPase activity	IDA	molecular_function
GO:0030983	mismatched DNA binding	IDA	molecular_function
GO:0030983	mismatched DNA binding	IDA	molecular_function
GO:0030983	mismatched DNA binding	IDA	molecular_function
GO:0032137	guanine/thymine mispair b inding	IDA	molecular_function
GO:0032137	guanine/thymine mispair b inding	IDA	molecular_function
GO:0032142	single guanine insertion binding	IDA	molecular_function
GO:0032143	single thymine insertion binding	IDA	molecular_function
GO:0032357	oxidized purine DNA bindi ng	IDA	molecular_function
GO:0032357	oxidized purine DNA bindi ng	IDA	molecular_function
GO:0032405	MutLalpha complex binding	IDA	molecular_function
GO:0043531	ADP binding	IDA	molecular_function
GO:0000228	nuclear chromosome	IBA	cellular_component
GO:0000710	meiotic mismatch repair	ISS	biological_process
GO:0000710	meiotic mismatch repair	IBA	biological_process
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005654	nucleoplasm	IDA	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005737	cytoplasm	IDA	cellular_component
GO:0005794	Golgi apparatus	IDA	cellular_component
GO:0005886	plasma membrane	IDA	cellular_component
GO:0006281	DNA repair	IDA	biological_process
GO:0006298	mismatch repair	IDA	biological_process
GO:0006298	mismatch repair	IGI	biological_process
GO:0006298	mismatch repair	IDA	biological_process
GO:0006298	mismatch repair	IMP	biological_process
GO:0006298	mismatch repair	TAS	biological_process
GO:0007131	reciprocal meiotic recomb ination	IBA	biological_process
GO:0008340	determination of adult li fespan	ISS	biological_process
GO:0008630	intrinsic apoptotic signa ling pathway in response to DNA damage	ISS	biological_process
GO:0009411	response to UV	ISS	biological_process
GO:0009411	response to UV	IBA	biological_process
GO:0016446	somatic hypermutation of immunoglobulin genes	ISS	biological_process
GO:0016447	somatic recombination of immunoglobulin gene segme nts	ISS	biological_process
GO:0030983	mismatched DNA binding	IDA	molecular_function
GO:0032301	MutSalpha complex	IDA	cellular_component
GO:0032301	MutSalpha complex	IDA	cellular_component
GO:0035064	methylated histone bindin g	IDA	molecular_function
GO:0043231	intracellular membrane-bo unded organelle	IDA	cellular_component
GO:0045190	isotype switching	ISS	biological_process
GO:0045910	negative regulation of DN A recombination	IDA	biological_process
GO:0051096	positive regulation of he licase activity	IDA	biological_process
GO:0097193	intrinsic apoptotic signa ling pathway	ISS	biological_process
GO:0042803	protein homodimerization activity	IPI	molecular_function
GO:0043570	maintenance of DNA repeat elements	IMP	biological_process
GO:0000287	magnesium ion binding	IDA	molecular_function
GO:0000400	four-way junction DNA bin ding	IDA	molecular_function
GO:0003690	double-stranded DNA bindi ng	IDA	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005524	ATP binding	IDA	molecular_function
GO:0016887	ATPase activity	IDA	molecular_function
GO:0030983	mismatched DNA binding	IDA	molecular_function
GO:0030983	mismatched DNA binding	IDA	molecular_function
GO:0030983	mismatched DNA binding	IDA	molecular_function
GO:0032137	guanine/thymine mispair b inding	IDA	molecular_function
GO:0032137	guanine/thymine mispair b inding	IDA	molecular_function
GO:0032142	single guanine insertion binding	IDA	molecular_function
GO:0032143	single thymine insertion binding	IDA	molecular_function
GO:0032357	oxidized purine DNA bindi ng	IDA	molecular_function
GO:0032357	oxidized purine DNA bindi ng	IDA	molecular_function
GO:0032405	MutLalpha complex binding	IDA	molecular_function
GO:0043531	ADP binding	IDA	molecular_function

KEGG pathways

hsa05200  Pathways in cancer
hsa01524  Platinum drug resistance
hsa05210  Colorectal cancer
hsa03430  Mismatch repair

Diseases

Associated diseases	References
Chronic obstructive pulmonary disease (COPD)	PMID: 19625176
Colorectal cancer	KEGG: H00020, OMIM: 600678
Endometrial cancer	OMIM: 600678
Endometrial cancer	PMID: 23164213
Endometriosis	PMID: 24018808
Endometriosis	INFBASE24018808

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
24018808	Endometrio sis			67 ovarian endo metrioid adenoc arcinoma(35 ass ociated with en dometriosis, 32 without endome triosis)		Beta-catenin cyclin D1 BAF250a PTEN p53 WT1	Show abstract