MUTYH

MUTYH
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1X51, 3N5N
Identifiers
Aliases	MUTYH, MYH, mutY DNA glycosylase, mutY homolog (E. coli)
External IDs	OMIM: 604933; MGI: 1917853; HomoloGene: 8156; GeneCards: MUTYH; OMA:MUTYH - orthologs
Gene location (Human) Chr. Chromosome 1 (human)[1] Band 1p34.1 Start 45,329,163 bp[1] End 45,340,893 bp[1]
Gene location (Mouse) Chr. Chromosome 4 (mouse)[2] Band 4|4 D1 Start 116,664,920 bp[2] End 116,676,637 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in cerebellar hemisphere right hemisphere of cerebellum mucosa of transverse colon granulocyte right lobe of thyroid gland right uterine tube left lobe of thyroid gland spleen tibial nerve pituitary gland Top expressed in tail of embryo embryo epiblast embryo morula ventricular zone blastocyst secondary oocyte genital tubercle ectoderm More reference expression data BioGPS More reference expression data
Gene ontology Molecular function MutSalpha complex binding metal ion binding hydrolase activity, acting on glycosyl bonds hydrolase activity catalytic activity iron-sulfur cluster binding MutLalpha complex binding 4 iron, 4 sulfur cluster binding MutLbeta complex binding MutSbeta complex binding protein binding DNA N-glycosylase activity DNA binding purine-specific mismatch base pair DNA N-glycosylase activity oxidized purine DNA binding 8-oxo-7,8-dihydroguanine DNA N-glycosylase activity adenine/guanine mispair binding Cellular component nucleoplasm mitochondrion nucleus Biological process DNA repair metabolism depurination cellular response to DNA damage stimulus DNA mismatch repair base-excision repair Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 4595 70603 Ensembl ENSG00000132781 ENSMUSG00000028687 UniProt Q9UIF7 Q99P21 RefSeq (mRNA) NM_001048171 NM_001048172 NM_001048173 NM_001048174 NM_001128425 NM_001293190 NM_001293191 NM_001293192 NM_001293195 NM_001293196 NM_012222 NM_001350650 NM_001350651 NM_001159581 NM_133250 NM_001316747 RefSeq (protein) NP_001041636 NP_001041637 NP_001041638 NP_001041639 NP_001121897 NP_001280119 NP_001280120 NP_001280121 NP_001280124 NP_001280125 NP_036354 NP_001337579 NP_001337580 NP_001280121.1 NP_001280125.1 NP_001153053 NP_001303676 NP_573513 Location (UCSC) Chr 1: 45.33 – 45.34 Mb Chr 4: 116.66 – 116.68 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

MUTYH (mutY DNA glycosylase) is a human gene that encodes a DNA glycosylase, MUTYH glycosylase. It is involved in oxidative DNA damage repair and is part of the base excision repair pathway. 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 common form of oxidative DNA damage.

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.^[5]