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General Information
- Evidence
- Gene
- mRNA
- CDS
- Protein
- PTM
- Enzyme
- PPi
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Evidence Information
| Pubmed ID | Year | Sample Information | Techniques | Mechanism | Fold Change | Remark |
|---|---|---|---|---|---|---|
| 22371070 | 2012 | Cell line : - Source : North-African origin. Sample Type : Population based case control study No. of Sample : 593 Sephardi Moroccan Jews (232 cases, 361 controls) and all 631 Arabs (327 cases, 304 controls) in Israel, 189 Ashkenazi Jewish cases. Stage : - | Genotyping and commet assay | Mutation | - | Bi-allelic carriers of mutations in MUTYH, are associated with highly risk of colorectal cancer. |
| 22641385 | 2012 | Cell line : - Source : - Sample Type : - No. of Sample : - Stage : - | - | Mutation | - | Somatic alterations of MUTYH in sporadic CRC were rare, similar to other DNA repair genes. Investigation of quantitative allelic imbalance at SNP rs3219489 of MUTYH showed that CRC cases with C allele dominance were more frequently detected with G:C?T:A transversions than in those with G allele dominance. 101 cases of sporadic CRC, together with the KRAS mutation in some cases were included in this study. |
| 23007840 | 2012 | Cell line : - Source : Department of Genetics of the University Medical Center Groningen,the department of Clinical and Human Genetics of the Leiden University Medical Center, and form 10 different hopitals in Netherlands. Sample Type : Case control study No. of Sample : 47 CRC patients for population study, 42 CRC patients for DNA analysis, DNA obtained from 668 healthy controls and 693 individuals previously gathered in an endoscopy-based case control study Stage : - | Leiden CRC study population, Wageningen colorectal polyp study population | Mutation | - | Involved in oxidative DNA damage repair. Initiates repair of A*oxoG to C*G by removing the inappropriately paired adenine base from the DNA backbone. Possesses both adenine and 2-OH-A DNA glycosylase activities. |
| 23618615 | 2013 | Cell line : - Source : Department of General and Colorectal Surgery at the Medical University of Lodz Sample Type : CRC tumor and normal tissue No. of Sample : 182 CRC patients and 245 control Stage : - | PCR-RFLP, Comet assay | Polymorhpism | - | Study indicated an association of OGG1 and MUTYH genes polymorphisms involved in oxidative DNA lesions repair with the risk occurrence of colorectal cancer in Polish patients. |
Gene Details
| Gene Type | protein coding |
|---|---|
| Gene Family | - |
| Description | This gene encodes a DNA glycosylase involved in oxidative DNA damage repair. The enzyme excises adenine bases from the DNA backbone at sites where adenine is inappropriately paired with guanine, cytosine, or 8-oxo-7,8-dihydroguanine, a major oxidatively damaged DNA lesion. The protein is localized to the nucleus and mitochondria. Mutations in this gene result in heritable predisposition to colon and stomach cancer. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] | Chromosome | 1 |
| Location | 1p34.1 |
| Start | 45329242 |
| End | 45340470 |
| Strand | - |
| Gene Sequence | Download Select all |
| Length | 11229 |
| OMIM ID | 604933 |
| HGNC ID | HGNC:7527 |
| Unigene ID | Hs.271353 |
| Ensembl ID | ENSG00000132781 |
| PharmGKB ID | - |
mRNA Information
| mRNA ID | NM_001293192.1 |
|---|---|
| Exon | join(1..252,5960..6080,6974..7058,7147..7186,7301..7374, 7512..7553,7637..7708,7784..7897,7983..8080,8161..8305, 8385..8448,8622..8810,8915..9051,9137..9289,9914..9955, 11034..11229) | mRNA Sequence | Download Select all |
| Length | 1839 |
CDS Information
| Location | join(217..252,5960..6080,6910..7058,7147..7186,7301..7374, 7512..7553,7637..7708,7784..7897,7983..8080,8161..8305, 8385..8448,8622..8810,8915..9051,9137..9289,9914..9955, 11034..11165) |
|---|---|
| CDS Sequence | Download Select all |
| CCDS ID | CCDS41320.1 |
Protein Information
| Protein ID | NP_001121897.1 |
|---|---|
| Protein Name | MutY homolog (E. coli) |
| Molecular Wt. (Da) | 60184 |
| Protein Sequence | Download Select all |
| Length | 549 |
| Uniprot ID | O14647 |
| Ensembl Protein ID | ENSP00000377747 |
Post-translational Modification Information (Source : HPRD)
| Residue | Type | site |
|---|---|---|
| S | Phosphorylation | 6 |
| S | Phosphorylation | 9 |
| S | Phosphorylation | 6 |
| S | Phosphorylation | 9 |
Enzyme Information
No matching records could be found.
PPi Information
(Click to view network : Source STRING) View
| Interactant Gene ID (Source: HPRD) | Gene Symbol | HPRD ID | Ref Seq ID | Technique | References |
|---|---|---|---|---|---|
| 328 | APEX1 | 136 | NP_542380.1 | in vitro;in vivo | 11092888 |
| 5111 | PCNA | 1456 | NP_002583.1 | in vitro;in vivo | 11092888 |
| 6117 | RPA1 | 1565 | NP_002936.1 | in vivo | 11092888 |
| 90678 | LRSAM1 | 14325 | NP_612370.3 | yeast 2-hybrid | 16169070 |
Pathway Information
| Pathway Name | Pathway ID |
|---|---|
| Base excision repair | hsa03410 |
Structure Information
| PDB ID | 1X51 |
|---|---|
| Resolution | - |
| Method | solution NMR |
| Chains | A |
| Molecule | A/G-specific adenine DNA glycosylase |
| Model | View |
Domain Information
| ID | Location | Description |
|---|---|---|
| cd00056 | 125-283 | ENDO3c |
| cl22429 | 125-283 | ENDO3c superfamily |
| cd03431 | 365-494 | DNA_Glycosylase_C |
| cl00447 | 365-494 | Nudix_Hydrolase superfamily |
| smart00478 | 133-285 | ENDO3c |
| pfam00730 | 129-260 | HhH-GPD |
| pfam14815 | 383-492 | NUDIX_4 |
| TIGR01083 | 151-294 | nth |
| pfam00293 | 369-495 | NUDIX |
| cd02883 | 369-492 | Nudix_Hydrolase |
| cd03425 | 383-477 | MutT_pyrophosphohydrolase |
| PRK10546 | 373-422 | PRK10546 |
| PRK10776 | 383-477 | PRK10776 |
| smart00525 | 286-306 | FES |
| cl23355 | 286-306 | FES superfamily |
| pfam00633 | 193-223 | HHH |
| TIGR00586 | 383-475 | mutt |
| pfam10576 | 287-303 | EndIII_4Fe-2S |
| cl23610 | 287-303 | EndIII_4Fe-2S superfamily |
| COG1194 | 89-491 | MutY |
| TIGR01084 | 92-422 | mutY |
| PRK10880 | 93-448 | PRK10880 |
| PRK13910 | 133-314 | PRK13910 |
| COG0177 | 101-309 | Nth |
| PRK10702 | 176-309 | PRK10702 |
| PRK08999 | 383-478 | PRK08999 |
Ontology Information
| HPRD ID | 4356 |
|---|---|
| Molecular Class | DNA repair protein |
| Molecular Function | Protein serine/threonine kinase activity (GO:0004674) |
| Biological Process | Cell communication (GO:0007154); Signal transduction (GO:0007165) |
Drug Information
No matching records could be found.