• Gene id: 2956

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: 47806953)     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 nucleo
• 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: 152786
• Sequence:

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

• Structural information:
  • Protein Domains: (92..15-)
    (/note="PWWP-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00162"-)
  • Interpro: IPR007695  IPR017261  IPR000432  IPR007861  IPR007696   IPR016151  IPR036187  IPR007860  IPR036678  IPR027417  IPR000313  
  • Prosite: PS00486 PS50812
  • PDB: 2GFU 2O8B 2O8C 2O8D 2O8E 2O8F 6OQM
  • PDBsum: 2GFU 2O8B 2O8C 2O8D 2O8E 2O8F 6OQM
  • DIP: 32972
  • STRING: ENSP00000234420
• Other Databases: GeneCards:  MSH6  Malacards:  MSH6

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006298	mismatch repair	IDA	biological process
GO:0006298	mismatch repair	IMP	biological process
GO:0003690	double-stranded DNA binding	IDA	contributes to
GO:0000287	magnesium ion binding	IDA	contributes to
GO:0000400	four-way junction DNA binding	IDA	contributes to
GO:0032405	MutLalpha complex binding	IDA	contributes to
GO:0016887	ATPase activity	IDA	contributes to
GO:0032143	single thymine insertion binding	IDA	contributes to
GO:0030983	mismatched DNA binding	IDA	contributes to
GO:0030983	mismatched DNA binding	IDA	contributes to
GO:0030983	mismatched DNA binding	IDA	contributes to
GO:0032137	guanine/thymine mispair binding	IDA	contributes to
GO:0032137	guanine/thymine mispair binding	IDA	contributes to
GO:0032142	single guanine insertion binding	IDA	contributes to
GO:0032357	oxidized purine DNA binding	IDA	contributes to
GO:0032357	oxidized purine DNA binding	IDA	contributes to
GO:0005524	ATP binding	IDA	contributes to
GO:0043531	ADP binding	IDA	contributes to
GO:0032301	MutSalpha complex	IDA	cellular component
GO:0005515	protein binding	IPI	contributes to
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0006290	pyrimidine dimer repair	IBA	biological process
GO:0008630	intrinsic apoptotic signaling pathway in response to DNA damage	IBA	biological process
GO:0030983	mismatched DNA binding	IBA	contributes to
GO:0032143	single thymine insertion binding	IBA	contributes to
GO:0000710	meiotic mismatch repair	IBA	biological process
GO:0006298	mismatch repair	IBA	biological process
GO:0008094	DNA-dependent ATPase activity	IBA	molecular function
GO:0016446	somatic hypermutation of immunoglobulin genes	IBA	biological process
GO:0016447	somatic recombination of immunoglobulin gene segments	IBA	biological process
GO:0032300	mismatch repair complex	IBA	cellular component
GO:0032301	MutSalpha complex	IBA	cellular component
GO:0032357	oxidized purine DNA binding	IBA	contributes to
GO:0032405	MutLalpha complex binding	IBA	contributes to
GO:0036297	interstrand cross-link repair	IBA	biological process
GO:0045910	negative regulation of DNA recombination	IBA	biological process
GO:0035064	methylated histone binding	IDA	molecular function
GO:0032301	MutSalpha complex	IDA	cellular component
GO:0006298	mismatch repair	IDA	biological process
GO:0030983	mismatched DNA binding	IDA	molecular function
GO:0006298	mismatch repair	IEA	biological process
GO:0005524	ATP binding	IEA	molecular function
GO:0030983	mismatched DNA binding	IEA	molecular function
GO:0006281	DNA repair	IEA	biological process
GO:0005524	ATP binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0005694	chromosome	IEA	cellular component
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0016032	viral process	IEA	biological process
GO:0006298	mismatch repair	IGI	biological process
GO:0006298	mismatch repair	IGI	biological process
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:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0006298	mismatch repair	TAS	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:0045190	isotype switching	IEA	biological process
GO:0009411	response to UV	IEA	biological process
GO:0008630	intrinsic apoptotic signaling pathway in response to DNA damage	IEA	biological process
GO:0003684	damaged DNA binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0000790	nuclear chromatin	IEA	cellular component
GO:0097193	intrinsic apoptotic signaling pathway	IEA	biological process
GO:0045910	negative regulation of DNA recombination	IEA	biological process
GO:0032301	MutSalpha complex	IEA	cellular component
GO:0032137	guanine/thymine mispair binding	IEA	molecular function
GO:0016447	somatic recombination of immunoglobulin gene segments	IEA	biological process
GO:0016446	somatic hypermutation of immunoglobulin genes	IEA	biological process
GO:0008340	determination of adult lifespan	IEA	biological process
GO:0006298	mismatch repair	IEA	biological process
GO:0003682	chromatin binding	IEA	molecular function
GO:0006281	DNA repair	IDA	biological process
GO:0045910	negative regulation of DNA recombination	IDA	biological process
GO:0000710	meiotic mismatch repair	ISS	biological process
GO:0008340	determination of adult lifespan	ISS	biological process
GO:0016446	somatic hypermutation of immunoglobulin genes	ISS	biological process
GO:0016447	somatic recombination of immunoglobulin gene segments	ISS	biological process
GO:0097193	intrinsic apoptotic signaling pathway	ISS	biological process
GO:0051096	positive regulation of helicase activity	IDA	biological process
GO:0008630	intrinsic apoptotic signaling pathway in response to DNA damage	ISS	biological process
GO:0009411	response to UV	ISS	biological process
GO:0043570	maintenance of DNA repeat elements	IMP	NOT|biological process
GO:0045190	isotype switching	ISS	biological process
GO:0005694	chromosome	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0019899	enzyme binding	IPI	molecular function
GO:0042803	protein homodimerization activity	IPI	NOT|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

KEGG pathways

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

Diseases

Associated diseases	References
Colorectal cancer	KEGG:H00020
Mismatch repair deficiency	KEGG:H00876
Colorectal cancer	KEGG:H00020
Mismatch repair deficiency	KEGG:H00876
colorectal carcinoma	PMID:9401011
urinary bladder cancer	PMID:18254781
Breast carcinoma	PMID:17394628
Breast carcinoma	PMID:16996262
Lynch syndrome	PMID:15571801
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)