Homo sapiens Gene: MUTYH
Summary
InnateDB Gene IDBG-97893.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol MUTYH
Gene Name mutY homolog (E. coli)
Synonyms MYH;
Species Homo sapiens
Ensembl Gene ENSG00000132781
Encoded Proteins
mutY homolog (E. coli)
mutY homolog (E. coli)
mutY homolog (E. coli)
mutY homolog (E. coli)
mutY homolog (E. coli)
mutY homolog (E. coli)
mutY homolog (E. coli)
mutY homolog (E. coli)
mutY homolog (E. coli)
mutY homolog (E. coli)
mutY homolog (E. coli)
mutY homolog (E. coli)
mutY homolog (E. coli)
mutY homolog (E. coli)
mutY homolog (E. coli)
mutY homolog (E. coli)
mutY homolog (E. coli)
mutY homolog (E. coli)
mutY homolog (E. coli)
mutY homolog (E. coli)
mutY homolog (E. coli)
mutY homolog (E. coli)
mutY homolog (E. coli)
mutY homolog (E. coli)
mutY homolog (E. coli)
mutY homolog (E. coli)
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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. 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]
Gene Information
Type Protein coding
Genomic Location Chromosome 1:45329163-45340470
Strand Reverse strand
Band p34.1
Transcripts
ENST00000372115 ENSP00000361187
ENST00000372110 ENSP00000361182
ENST00000355498 ENSP00000347685
ENST00000354383 ENSP00000346354
ENST00000372104 ENSP00000361176
ENST00000372098 ENSP00000361170
ENST00000448481 ENSP00000409718
ENST00000450313 ENSP00000408176
ENST00000456914 ENSP00000407590
ENST00000412971 ENSP00000410263
ENST00000435155 ENSP00000403655
ENST00000481571 ENSP00000436597
ENST00000475516 ENSP00000433843
ENST00000485271 ENSP00000431264
ENST00000467459 ENSP00000435889
ENST00000482094
ENST00000488731 ENSP00000432330
ENST00000462388
ENST00000466231
ENST00000470256 ENSP00000434985
ENST00000461495 ENSP00000437166
ENST00000467940 ENSP00000436478
ENST00000478796
ENST00000479746
ENST00000492494
ENST00000483642
ENST00000481139
ENST00000485484
ENST00000476789
ENST00000462387
ENST00000474703
ENST00000483127 ENSP00000436469
ENST00000529984 ENSP00000437093
ENST00000531105 ENSP00000431292
ENST00000529892 ENSP00000432528
ENST00000533178 ENSP00000436430
ENST00000528013 ENSP00000433130
ENST00000525160 ENSP00000431568
ENST00000534453
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:0008152 metabolic process
GO:0045007 depurination
Cellular Component
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005739 mitochondrion
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Base-free sugar-phosphate removal via the single-nucleotide replacement pathway pathway
Resolution of Abasic Sites (AP sites) pathway
Removal of DNA patch containing abasic residue pathway
Base Excision Repair pathway
Recognition and association of DNA glycosylase with site containing an affected purine pathway
Base-Excision Repair, AP Site Formation pathway
Depurination pathway
Displacement of DNA glycosylase by APE1 pathway
Resolution of AP sites via the multiple-nucleotide patch replacement pathway pathway
Resolution of AP sites via the single-nucleotide replacement pathway pathway
Cleavage of the damaged purine pathway
DNA Repair pathway
KEGG
Base excision repair pathway
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt
TrEMBL E9PI11 E9PIW5 Q8TDZ3
UniProt Splice Variant
Entrez Gene 4595
UniGene Hs.271353
RefSeq NM_001293192 NM_001048171 NM_001048172 NM_001048173 NM_001048174 NM_001128425 NM_001293190 NM_001293191 NM_001293195 NM_001293196 NM_012222 XM_005270880 XM_005270881 XM_006710648
HUGO HGNC:7527
OMIM 604933
CCDS CCDS41320 CCDS41321 CCDS41322 CCDS520 CCDS72776 CCDS72777
HPRD 05380
IMGT
EMBL AB048788 AL359540
GenPept BAB86886
RNA Seq Atlas 4595