ENSG00000132781


Homo sapiens

Features
Gene ID: ENSG00000132781
  
Biological name :MUTYH
  
Synonyms : mutY DNA glycosylase / MUTYH / Q9UIF7
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 1
Strand: -1
Band: p34.1
Gene start: 45329163
Gene end: 45340470
  
Corresponding Affymetrix probe sets: 207727_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000431292
Ensembl peptide - ENSP00000431264
Ensembl peptide - ENSP00000431568
Ensembl peptide - ENSP00000437166
Ensembl peptide - ENSP00000437093
Ensembl peptide - ENSP00000436597
Ensembl peptide - ENSP00000436478
Ensembl peptide - ENSP00000436469
Ensembl peptide - ENSP00000436430
Ensembl peptide - ENSP00000435889
Ensembl peptide - ENSP00000434985
Ensembl peptide - ENSP00000433843
Ensembl peptide - ENSP00000433130
Ensembl peptide - ENSP00000432528
Ensembl peptide - ENSP00000432330
Ensembl peptide - ENSP00000346354
Ensembl peptide - ENSP00000347685
Ensembl peptide - ENSP00000361170
Ensembl peptide - ENSP00000361176
Ensembl peptide - ENSP00000361182
Ensembl peptide - ENSP00000361187
Ensembl peptide - ENSP00000403655
Ensembl peptide - ENSP00000407590
Ensembl peptide - ENSP00000408176
Ensembl peptide - ENSP00000409718
Ensembl peptide - ENSP00000410263
NCBI entrez gene - 4595     See in Manteia.
OMIM - 604933
RefSeq - XM_017001339
RefSeq - NM_001048171
RefSeq - NM_001048172
RefSeq - NM_001048173
RefSeq - NM_001048174
RefSeq - NM_001128425
RefSeq - NM_001293190
RefSeq - NM_001293191
RefSeq - NM_001293192
RefSeq - NM_001293195
RefSeq - NM_001293196
RefSeq - NM_012222
RefSeq - XM_011541497
RefSeq - XM_011541498
RefSeq - XM_011541499
RefSeq - XM_011541500
RefSeq - XM_011541501
RefSeq - XM_011541502
RefSeq - XM_011541503
RefSeq - XM_011541504
RefSeq - XM_011541505
RefSeq - XM_011541506
RefSeq - XM_011541507
RefSeq - XM_017001331
RefSeq - XM_017001332
RefSeq - XM_017001333
RefSeq - XM_017001334
RefSeq - XM_017001335
RefSeq - XM_017001336
RefSeq - XM_017001337
RefSeq - XM_017001338
RefSeq Peptide - NP_001041639
RefSeq Peptide - NP_001121897
RefSeq Peptide - NP_001280119
RefSeq Peptide - NP_001280120
RefSeq Peptide - NP_001280121
RefSeq Peptide - NP_001280124
RefSeq Peptide - NP_001280125
RefSeq Peptide - NP_036354
RefSeq Peptide - NP_001041636
RefSeq Peptide - NP_001041637
RefSeq Peptide - NP_001041638
swissprot - E5KP27
swissprot - E5KP26
swissprot - H0YCA8
swissprot - H0YCY5
swissprot - H0YEI2
swissprot - H0YER6
swissprot - Q5T418
swissprot - Q9UIF7
swissprot - E5KP25
swissprot - Q5T413
swissprot - E9PP34
swissprot - E9PP30
swissprot - E9PNY0
swissprot - E9PMH1
swissprot - E9PM53
swissprot - E9PLT4
swissprot - E9PKM9
swissprot - E9PIW5
swissprot - E9PI11
swissprot - E5KP28
Ensembl - ENSG00000132781
  
Related genetic diseases (OMIM): 132600 - Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas, 132600
  608456 - Adenomas, multiple colorectal, 608456
  613659 - Gastric cancer, somatic, 613659
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 CT025742.1ENSDARG00000074889Danio rerio
 MUTYHENSGALG00000010226Gallus gallus
 MutyhENSMUSG00000028687Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR000086  NUDIX hydrolase domain
 IPR000445  Helix-hairpin-helix motif
 IPR003265  HhH-GPD domain
 IPR003651  Endonuclease III-like, iron-sulphur cluster loop motif
 IPR004035  Endonuclease III, iron-sulphur binding site
 IPR004036  Endonuclease III-like, conserved site-2
 IPR011257  DNA glycosylase
 IPR015797  NUDIX hydrolase-like domain superfamily
 IPR023170  Helix-turn-helix, base-excision DNA repair, C-terminal
 IPR029119  MutY, C-terminal


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006281 DNA repair TAS
 biological_processGO:0006284 base-excision repair IEA
 biological_processGO:0006298 mismatch repair TAS
 biological_processGO:0006974 cellular response to DNA damage stimulus IEA
 biological_processGO:0008152 metabolic process IEA
 biological_processGO:0045007 depurination TAS
 cellular_componentGO:0005634 nucleus TAS
 cellular_componentGO:0005654 nucleoplasm TAS
 cellular_componentGO:0005739 mitochondrion IEA
 molecular_functionGO:0000701 purine-specific mismatch base pair DNA N-glycosylase activity IMP
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0003824 catalytic activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0016787 hydrolase activity IEA
 molecular_functionGO:0016798 hydrolase activity, acting on glycosyl bonds IEA
 molecular_functionGO:0019104 DNA N-glycosylase activity TAS
 molecular_functionGO:0032407 MutSalpha complex binding IDA
 molecular_functionGO:0046872 metal ion binding IEA
 molecular_functionGO:0051536 iron-sulfur cluster binding IEA
 molecular_functionGO:0051539 4 iron, 4 sulfur cluster binding IEA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0001428 Somatic mutation 
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 HP:0003003 Colon cancer 
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 HP:0005227 Multiple adenomatous colon polyps 
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 HP:0008069 Neoplasia of the skin 
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 HP:0012126 Stomach cancer "A cancer arising in any part of the stomach." [HPO:probinson]
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 HP:0030434 Pilomatrixoma "Pilomatricoma is an asymptomatic slowly growing benign cutaneous tumor, differentiating towards the hair matrix of the hair follicle. It is covered by normal or hyperemic skin, and usually varies in size from 0.5 to 3 cm." [HPO:probinson, pmid:21430899]
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 HP:0410067 Increased level of L-fucose in urine "An increase in the level of L-fucose in the urine." [PMID:2311216]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000100823 APEX1 / P27695 / apurinic/apyrimidinic endodeoxyribonuclease 1  / reaction






 

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