MUTYH - mutY DNA glycosylase Gene
Also Known as MYH
Species: Homo sapiens
About MUTYH
This gene has 47 transcripts (splice variants), 191 orthologues, 1 paralogue and is associated with 76 phenotypes. Ubiquitous expression in spleen (RPKM 3.1), thyroid (RPKM 3.0) and 25 other tissues.
Summary
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. This gene product is thought to play a role in signaling Apoptosis by the introduction of single-strand breaks following oxidative damage. Mutations in this gene result in heritable predisposition to colorectal Cancer, termed MUTYH-associated polyposis (MAP). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2017]
MUTYH Products (32)
| mRNA | Protein | Name |
|---|---|---|
| NM_001048171.2 | NP_001041636.2 | adenine DNA glycosylase isoform 2 |
| NM_001048172.2 | NP_001041637.1 | adenine DNA glycosylase isoform 3 |
| NM_001048173.2 | NP_001041638.1 | adenine DNA glycosylase isoform 2 |
| NM_001048174.2 | NP_001041639.1 | adenine DNA glycosylase isoform 2 |
| NM_001128425.2 | NP_001121897.1 | adenine DNA glycosylase isoform 5 |
| NM_001293190.2 | NP_001280119.1 | adenine DNA glycosylase isoform 6 |
| NM_001293191.2 | NP_001280120.1 | adenine DNA glycosylase isoform 7 |
| NM_001293192.2 | NP_001280121.1 | adenine DNA glycosylase isoform 8 |
| NM_001293195.2 | NP_001280124.1 | adenine DNA glycosylase isoform 2 |
| NM_001293196.2 | NP_001280125.1 | adenine DNA glycosylase isoform 8 |
| NM_001350650.2 | NP_001337579.1 | adenine DNA glycosylase isoform 9 |
| NM_001350651.2 | NP_001337580.1 | adenine DNA glycosylase isoform 9 |
| NM_001407069.1 | NP_001393998.1 | adenine DNA glycosylase isoform 17 |
| NM_001407070.1 | NP_001393999.1 | adenine DNA glycosylase isoform 2 |
| NM_001407071.1 | NP_001394000.1 | adenine DNA glycosylase isoform 3 |
| NM_001407072.1 | NP_001394001.1 | adenine DNA glycosylase isoform 2 |
| NM_001407073.1 | NP_001394002.1 | adenine DNA glycosylase isoform 18 |
| NM_001407075.1 | NP_001394004.1 | adenine DNA glycosylase isoform 16 |
| NM_001407077.1 | NP_001394006.1 | adenine DNA glycosylase isoform 7 |
| NM_001407078.1 | NP_001394007.1 | adenine DNA glycosylase isoform 3 |
| NM_001407079.1 | NP_001394008.1 | adenine DNA glycosylase isoform 14 |
| NM_001407080.1 | NP_001394009.1 | adenine DNA glycosylase isoform 15 |
| NM_001407081.1 | NP_001394010.1 | adenine DNA glycosylase isoform 2 |
| NM_001407082.1 | NP_001394011.1 | adenine DNA glycosylase isoform 9 |
| NM_001407083.1 | NP_001394012.1 | adenine DNA glycosylase isoform 10 |
| NM_001407085.1 | NP_001394014.1 | adenine DNA glycosylase isoform 10 |
| NM_001407086.1 | NP_001394015.1 | adenine DNA glycosylase isoform 3 |
| NM_001407087.1 | NP_001394016.1 | adenine DNA glycosylase isoform 12 |
| NM_001407088.1 | NP_001394017.1 | adenine DNA glycosylase isoform 2 |
| NM_001407089.1 | NP_001394018.1 | adenine DNA glycosylase isoform 2 |
| NM_001407091.1 | NP_001394020.1 | adenine DNA glycosylase isoform 8 |
| NM_012222.3 | NP_036354.1 | adenine DNA glycosylase isoform 1 |
| Molecular Function GO Annotation | Evidence | Références | Source |
|---|---|---|---|
| NOT enables MutLalpha complex binding |
IDA
IDA: Inferred from direct assay
|
11801590 | GOA |
| NOT enables MutLbeta complex binding |
IDA
IDA: Inferred from direct assay
|
11801590 | GOA |
| enables MutSalpha complex binding |
IDA
IDA: Inferred from direct assay
|
11801590 | GOA |
| NOT enables MutSbeta complex binding |
IDA
IDA: Inferred from direct assay
|
11801590 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
11801590 | GOA |
| enables purine-specific mismatch base pair DNA N-glycosylase activity |
IMP
IMP: Inferred from mutant phenotype
|
20848659 | GOA |
MUTYH Protein Structure
HhH-GPD: HhH-GPD superfamily base excision DNA repair protein (118 - 249)
NUDIX_4: NUDIX domain (371 - 480)
- 0
- 100
- 200
- 300
- 400
- 500
- 535 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
adenine DNA glycosylase |
|
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Familial Adenomatous Polyposis 2 |
|
|
| Gastric Cancer |
|
|
| Myh-Associated Polyposis |
|
|
| Familial Colorectal Cancer |
|
|
| Pilomatrixoma |
|
|
| Endometrial Cancer |
|
|
| Colorectal Cancer |
|
|
| Breast Cancer |
|
|
| Bap1 Tumor Predisposition Syndrome |
|
|
| Ovarian Cancer |
|
|
| Inherited Cancer-Predisposing Syndrome |
|
|
| Familial Adenomatous Polyposis |
|
|
| Colonic Benign Neoplasm |
|
|
| Muir-Torre Syndrome |
|
|
| Lynch Syndrome |
|
|
| Polyposis Syndrome, Hereditary Mixed, 1 |
|
|
| Hereditary Breast Ovarian Cancer Syndrome |
|
|
| Adenoma |
|
|
| Rectosigmoid Cancer |
|
|
| Rectum Cancer |
|
|
| Hereditary Mixed Polyposis Syndrome |
|
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| Cowden Syndrome 1 |
|
|
| Small Intestine Cancer |
|
|
| Colorectal Adenoma |
|
|
| Juvenile Polyposis Syndrome |
|
|
| Periampullary Adenoma |
|
|
| Sebaceous Gland Neoplasm |
|
|
| Neuroma |
|
|
| Familial Adenomatous Polyposis 3 |
|
|
| Colorectal Cancer, Hereditary Nonpolyposis, Type 6 |
|
|
| Mismatch Repair Cancer Syndrome |
|
|
| Sebaceous Adenoma |
|
|
| Gastric Body Carcinoma |
|
|
| Desmoid Tumor |
|
|
| Intestinal Benign Neoplasm |
|
|
| Jejunal Cancer |
|
|
| Jejunal Adenocarcinoma |
|
|
| Gastrointestinal Adenoma |
|
|
| Diffuse Gastric And Lobular Breast Cancer Syndrome |
|
|
| Cowden Syndrome |
|
|
| Duodenum Cancer |
|
|
| Villous Adenoma |
|
|
| Gastrointestinal System Benign Neoplasm |
|
|
| Duodenum Adenocarcinoma |
|
|
| Arthrogryposis, Distal, Type 7 |
|
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| Diffuse Gastric Cancer |
|
|
| Arthrogryposis, Distal, Type 2b3 |
|
|
| Duodenum Disease |
|
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| Li-Fraumeni Syndrome |
|
|
| Polyposis Syndrome, Hereditary Mixed, 2 |
|
|
| Parkinson Disease 2, Autosomal Recessive Juvenile |
|
|
| Xeroderma Pigmentosum, Variant Type |
|
|
| Fanconi Anemia, Complementation Group A |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Mus musculus | MUTYH | MGD | MGI:1917853 |
| Bos taurus | MUTYH | VGNC | VGNC:31765 |
| Felis catus | MUTYH | VGNC | VGNC:68363 |
| Rattus norvegicus | MUTYH | RGD | RGD:620045 |
| Canis familiaris | MUTYH | VGNC | VGNC:43505 |
| Macaca mulatta | MUTYH | VGNC | VGNC:75083 |
| Others | MUTYH | NCBI |