MSH6 - mutS homolog 6 Gene
Also Known as GTBP; HSAP; p160; GTMBP; MSH-6; HNPCC5; LYNCH5; MMRCS3
Species: Homo sapiens
About MSH6
This gene has 26 transcripts (splice variants), 202 orthologues, 4 paralogues and is associated with 130 phenotypes. Ubiquitous expression in ovary (RPKM 15.4), testis (RPKM 14.1) and 25 other tissues.
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]
MSH6 Products (42)
| mRNA | Protein | Name |
|---|---|---|
| NM_000179.3 | NP_000170.1 | DNA mismatch repair protein Msh6 isoform 1 |
| NM_001281492.2 | NP_001268421.1 | DNA mismatch repair protein Msh6 isoform 2 |
| NM_001281493.2 | NP_001268422.1 | DNA mismatch repair protein Msh6 isoform 3 |
| NM_001281494.2 | NP_001268423.1 | DNA mismatch repair protein Msh6 isoform 3 |
| NM_001406795.1 | NP_001393724.1 | DNA mismatch repair protein Msh6 isoform 4 |
| NM_001406796.1 | NP_001393725.1 | DNA mismatch repair protein Msh6 isoform 1 |
| NM_001406797.1 | NP_001393726.1 | DNA mismatch repair protein Msh6 isoform 12 |
| NM_001406798.1 | NP_001393727.1 | DNA mismatch repair protein Msh6 isoform 10 |
| NM_001406799.1 | NP_001393728.1 | DNA mismatch repair protein Msh6 isoform 14 |
| NM_001406800.1 | NP_001393729.1 | DNA mismatch repair protein Msh6 isoform 8 |
| NM_001406801.1 | NP_001393730.1 | DNA mismatch repair protein Msh6 isoform 13 |
| NM_001406802.1 | NP_001393731.1 | DNA mismatch repair protein Msh6 isoform 9 |
| NM_001406803.1 | NP_001393732.1 | DNA mismatch repair protein Msh6 isoform 15 |
| NM_001406804.1 | NP_001393733.1 | DNA mismatch repair protein Msh6 isoform 7 |
| NM_001406805.1 | NP_001393734.1 | DNA mismatch repair protein Msh6 isoform 12 |
| NM_001406806.1 | NP_001393735.1 | DNA mismatch repair protein Msh6 isoform 14 |
| NM_001406807.1 | NP_001393736.1 | DNA mismatch repair protein Msh6 isoform 14 |
| NM_001406808.1 | NP_001393737.1 | DNA mismatch repair protein Msh6 isoform 6 |
| NM_001406809.1 | NP_001393738.1 | DNA mismatch repair protein Msh6 isoform 1 |
| NM_001406811.1 | NP_001393740.1 | DNA mismatch repair protein Msh6 isoform 3 |
| NM_001406812.1 | NP_001393741.1 | DNA mismatch repair protein Msh6 isoform 3 |
| NM_001406813.1 | NP_001393742.1 | DNA mismatch repair protein Msh6 isoform 5 |
| NM_001406814.1 | NP_001393743.1 | DNA mismatch repair protein Msh6 isoform 3 |
| NM_001406815.1 | NP_001393744.1 | DNA mismatch repair protein Msh6 isoform 3 |
| NM_001406816.1 | NP_001393745.1 | DNA mismatch repair protein Msh6 isoform 3 |
| NM_001406817.1 | NP_001393746.1 | DNA mismatch repair protein Msh6 isoform 16 |
| NM_001406818.1 | NP_001393747.1 | DNA mismatch repair protein Msh6 isoform 12 |
| NM_001406819.1 | NP_001393748.1 | DNA mismatch repair protein Msh6 isoform 12 |
| NM_001406820.1 | NP_001393749.1 | DNA mismatch repair protein Msh6 isoform 12 |
| NM_001406821.1 | NP_001393750.1 | DNA mismatch repair protein Msh6 isoform 12 |
| NM_001406822.1 | NP_001393751.1 | DNA mismatch repair protein Msh6 isoform 13 |
| NM_001406823.1 | NP_001393752.1 | DNA mismatch repair protein Msh6 isoform 3 |
| NM_001406824.1 | NP_001393753.1 | DNA mismatch repair protein Msh6 isoform 12 |
| NM_001406825.1 | NP_001393754.1 | DNA mismatch repair protein Msh6 isoform 12 |
| NM_001406826.1 | NP_001393755.1 | DNA mismatch repair protein Msh6 isoform 18 |
| NM_001406827.1 | NP_001393756.1 | DNA mismatch repair protein Msh6 isoform 12 |
| NM_001406828.1 | NP_001393757.1 | DNA mismatch repair protein Msh6 isoform 12 |
| NM_001406829.1 | NP_001393758.1 | DNA mismatch repair protein Msh6 isoform 3 |
| NM_001406830.1 | NP_001393759.1 | DNA mismatch repair protein Msh6 isoform 12 |
| NM_001406831.1 | NP_001393760.1 | DNA mismatch repair protein Msh6 isoform 16 |
| NM_001406832.1 | NP_001393761.1 | DNA mismatch repair protein Msh6 isoform 18 |
| NM_001407362.1 | NP_001394291.1 | DNA mismatch repair protein Msh6 isoform 17 |
| Biological Process GO Annotation | Evidence | Références | Source |
|---|---|---|---|
| involved in DNA repair |
IDA
IDA: Inferred from direct assay
|
8942985 | GOA |
| NOT involved in maintenance of DNA repeat elements |
IMP
IMP: Inferred from mutant phenotype
|
16388310 | GOA |
| involved in mismatch repair |
IDA
IDA: Inferred from direct assay
|
10871409 | GOA |
| acts upstream of or within mismatch repair |
IGI
IGI: Inferred from genetic interaction
|
23603115 | GOA |
| involved in mismatch repair |
IMP
IMP: Inferred from mutant phenotype
|
8782829 | GOA |
| involved in negative regulation of DNA recombination |
IDA
IDA: Inferred from direct assay
|
17715146 | GOA |
| involved in positive regulation of helicase activity |
IDA
IDA: Inferred from direct assay
|
17715146 | GOA |
| Cellular Component GO Annotation | Evidence | Références | Source |
|---|---|---|---|
| part of MutSalpha complex |
IDA
IDA: Inferred from direct assay
|
8942985 | GOA |
| part of MutSalpha complex |
IPI
IPI: Inferred from physical interaction
|
17531815 | GOA |
| located in nucleus |
IDA
IDA: Inferred from direct assay
|
26300262 | GOA |
MSH6 Protein Structure
PWWP: PWWP domain (90 - 182)
MutS_I: MutS domain I (407 - 524)
MutS_II: MutS domain II (538 - 699)
MutS_III: MutS domain III (738 - 1064)
MutS_IV: MutS family domain IV (932 - 1024)
MutS_V: MutS domain V (1075 - 1325)
- 0
- 300
- 600
- 900
- 1200
- 1360 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
DNA mismatch repair protein Msh6 |
|
MSH6 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | Références |
|---|---|---|---|---|---|---|---|
|
Intra
|
MSH6 | P52701 | MCM9 | Homo sapiens | Q9NXL9 | 35271311 | |
|
Intra
|
MSH6 | P52701 | MSH2 | Homo sapiens | P43246 | 25241761 | |
|
Intra
|
MSH6 | P52701 | MSH2 | Homo sapiens | P43246 | 26496610 | |
|
Intra
|
MSH6 | P52701 | MSH2 | Homo sapiens | P43246 | 35271311 | |
|
Intra
|
MSH6 | P52701 | MSH2 | Homo sapiens | P43246 | 10856833 |
MSH6 Anticorps
| Cat. No. | Nom du produit | Application | Reactivity |
|---|---|---|---|
| HY-P82011 | MSH6 Antibody (YA1756) | WB, IHC-F, IHC-P, ICC/IF | Human, Mouse, Rat |
| HY-P82011A | MSH6 Antibody (YA1756)(PBS only) | WB, IHC-F, IHC-P, ICC/IF | Human, Mouse, Rat |
| HY-P84384 | MSH6 Antibody (YA4081) | WB, IHC-P, ICC/IF, FC, ELISA | Human |
| HY-P84384A | MSH6 Antibody (YA4081)(PBS only) | WB, IHC-P, ICC/IF, FC, ELISA | Human |
| HY-P85919 | MSH6 Antibody (YA5611) | IHC-P, WB, ICC/IF, ELISA | Human |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Colorectal Cancer, Hereditary Nonpolyposis, Type 5 |
|
|
| Endometrial Cancer |
|
|
| Mismatch Repair Cancer Syndrome 3 |
|
|
| Lynch Syndrome |
|
|
| Mismatch Repair Cancer Syndrome 1 |
|
|
| Colon Adenocarcinoma |
|
|
| Lynch Syndrome I |
|
|
| Muir-Torre Syndrome |
|
|
| Colorectal Cancer |
|
|
| Rhabdomyosarcoma |
|
|
| Ovarian Cancer |
|
|
| Hereditary Breast Ovarian Cancer Syndrome |
|
|
| Breast Cancer |
|
|
| Bap1 Tumor Predisposition Syndrome |
|
|
| Inherited Cancer-Predisposing Syndrome |
|
|
| Mismatch Repair Cancer Syndrome |
|
|
| Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities |
|
|
| Small Intestine Cancer |
|
|
| Gaucher Disease, Type I |
|
|
| Adenoma |
|
|
| Neurofibromatosis |
|
|
| Familial Adenomatous Polyposis |
|
|
| Endometrial Hyperplasia |
|
|
| Sebaceous Adenocarcinoma |
|
|
| Colorectal Cancer 5 |
|
|
| Skin Benign Neoplasm |
|
|
| Sebaceous Gland Neoplasm |
|
|
| Sebaceous Adenoma |
|
|
| Cecum Carcinoma |
|
|
| Adenosquamous Colon Carcinoma |
|
|
| Adenocarcinoma |
|
|
| Neurofibromatosis, Type I |
|
|
| Familial Adenomatous Polyposis 2 |
|
|
| Renal Pelvis Carcinoma |
|
|
| Extrahepatic Bile Duct Adenoma |
|
|
| Ulcerative Colitis |
|
|
| Colitis |
|
|
| Fallopian Tube Carcinoma |
|
|
| Ureter, Cancer Of |
|
|
| Jejunal Adenocarcinoma |
|
|
| Rectosigmoid Cancer |
|
|
| Periampullary Adenoma |
|
|
| Appendix Carcinoid Tumor |
|
|
| Rectum Cancer |
|
|
| Juvenile Polyposis Syndrome |
|
|
| Cowden Syndrome 1 |
|
|
| Oligodendroglioma |
|
|
| Cervical Endometrioid Adenocarcinoma |
|
|
| Jejunal Cancer |
|
|
| Ascending Colon Cancer |
|
|
| Female Reproductive Endometrioid Cancer |
|
|
| Descending Colon Cancer |
|
|
| Dysplastic Nevus Syndrome |
|
|
| Duodenum Adenocarcinoma |
|
|
| Diffuse Gastric And Lobular Breast Cancer Syndrome |
|
|
| Mucinous Adenocarcinoma |
|
|
| Colorectal Cancer, Hereditary Nonpolyposis, Type 6 |
|
|
| Small Intestine Adenocarcinoma |
|
|
| Duodenum Cancer |
|
|
| Colorectal Adenoma |
|
|
| Villous Adenoma |
|
|
| Hereditary Mixed Polyposis Syndrome |
|
|
| Glioblastoma |
|
|
| Diffuse Gastric Cancer |
|
|
| Gastric Cancer |
|
|
| Endometrioid Ovary Carcinoma |
|
|
| Rectal Benign Neoplasm |
|
|
| Intestinal Benign Neoplasm |
|
|
| Skin Squamous Cell Carcinoma |
|
|
| Appendix Adenocarcinoma |
|
|
| Duodenum Disease |
|
|
| Brain Cancer |
|
|
| Signet Ring Cell Adenocarcinoma |
|
|
| Endometrial Adenocarcinoma |
|
|
| Li-Fraumeni Syndrome |
|
|
| Gastrointestinal Adenoma |
|
|
| Uterine Body Mixed Cancer |
|
|
| Uterine Corpus Cancer |
|
|
| Cowden Syndrome |
|
|
| Gastric Body Carcinoma |
|
|
| Desmoid Tumor |
|
|
| Colorectal Adenocarcinoma |
|
|
| Colonic Benign Neoplasm |
|
|
| Serous Cystadenocarcinoma |
|
|
| Endocervical Carcinoma |
|
|
| Rectum Adenocarcinoma |
|
|
| Uterine Carcinosarcoma |
|
|
| Gastrointestinal System Benign Neoplasm |
|
|
| Autosomal Dominant Intellectual Developmental Disorder 8 |
|
|
| Xeroderma Pigmentosum, Variant Type |
|
|
| Retinal Melanoma |
|
|
| Pancreatic Signet Ring Cell Adenocarcinoma |
|
|
| Lymphangioma |
|
|
| Acidophil Adenoma |
|
|
| Pancreatic Cancer |
|
|
| Pulsating Exophthalmos |
|
|
| Prostate Cancer |
|
|
| Endocervical Adenocarcinoma |
|
|
| Medullary Colon Carcinoma |
|
|
| Lung Clear Cell Carcinoma |
|
|
| Medulloblastoma |
|
|
| Papillary Adenofibroma |
|
|
| Adrenal Cortical Carcinoma |
|
|
| Renal Pelvis Transitional Cell Carcinoma |
|
|
| Aplastic Anemia |
|
|
| Fanconi Anemia, Complementation Group A |
|
|
| Melanoma, Cutaneous Malignant 1 |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Bos taurus | MSH6 | VGNC | VGNC:31696 |
| Mus musculus | MSH6 | MGD | MGI:1343961 |
| Rattus norvegicus | MSH6 | RGD | RGD:2322311 |
| Canis familiaris | MSH6 | VGNC | VGNC:43441 |
| Macaca mulatta | MSH6 | VGNC | VGNC:74934 |
| Felis catus | MSH6 | VGNC | VGNC:68324 |
| Others | MSH6 | NCBI |