InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: MUTYH

Summary

InnateDB Protein

IDBP-383133.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

MUTYH

Protein Name

mutY homolog (E. coli)

Synonyms

MYH;

Species

Homo sapiens

Ensembl Protein

ENSP00000409718

InnateDB Gene

IDBG-97893 (MUTYH)

Protein Structure

UniProt Annotation

Function

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. {ECO:0000269PubMed:10684930}.

Subcellular Localization

Nucleus.

Disease Associations

Familial adenomatous polyposis 2 (FAP2) [MIM:608456]: A condition characterized by the development of multiple colorectal adenomatous polyps, benign neoplasms derived from glandular epithelium. Some affected individuals may develop colorectal carcinoma. {ECO:0000269PubMed:11818965, ECO:0000269PubMed:12606733, ECO:0000269PubMed:12853198, ECO:0000269PubMed:15366000, ECO:0000269PubMed:18091433, ECO:0000269PubMed:19953527}. Note=The disease is caused by mutations affecting the gene represented in this entry.Gastric cancer (GASC) [MIM:613659]: A malignant disease which starts in the stomach, can spread to the esophagus or the small intestine, and can extend through the stomach wall to nearby lymph nodes and organs. It also can metastasize to other parts of the body. The term gastric cancer or gastric carcinoma refers to adenocarcinoma of the stomach that accounts for most of all gastric malignant tumors. Two main histologic types are recognized, diffuse type and intestinal type carcinomas. Diffuse tumors are poorly differentiated infiltrating lesions, resulting in thickening of the stomach. In contrast, intestinal tumors are usually exophytic, often ulcerating, and associated with intestinal metaplasia of the stomach, most often observed in sporadic disease. {ECO:0000269PubMed:15273732}. Note=The gene represented in this entry may be involved in disease pathogenesis. Somatic mutations contribute to the development of a sub-set of sporadic gastric cancers in carriers of Helicobacter pylori (PubMed:15273732). {ECO:0000269PubMed:15273732}.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 16 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Experimentally validated
Total	16 [view]
Protein-Protein	15 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003824	catalytic activity
GO:0005515	protein binding
GO:0016787	hydrolase activity
GO:0016798	hydrolase activity, acting on glycosyl bonds
GO:0032407	MutSalpha complex binding
GO:0046872	metal ion binding
GO:0051539	4 iron, 4 sulfur cluster binding

Biological Process

GO:0006281	DNA repair
GO:0006284	base-excision repair
GO:0006285	base-excision repair, AP site formation
GO:0006298	mismatch repair
GO:0045007	depurination

Cellular Component

GO:0005634	nucleus
GO:0005654	nucleoplasm

Protein Structure and Domains

PDB ID

InterPro

IPR003265 HhH-GPD domain
IPR003651 Endonuclease III-like, iron-sulphur cluster loop motif
IPR011257 DNA glycosylase
IPR015797 NUDIX hydrolase domain-like

PFAM

PF00730
PF10576

PRINTS

PIRSF

SMART

SM00478
SM00525

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

Q9UIF7