MUTYH
entrez
4595
canonical
uniprot
Q9UIF7
canonical
ensembl
ENSG00000132781
resolver
ensp
ENSP00000346354
resolver
ensp
ENSP00000347685
resolver
ensp
ENSP00000361176
resolver
ensp
ENSP00000361182
resolver
ensp
ENSP00000403655
resolver
ensp
ENSP00000407590
resolver
ensp
ENSP00000409718
resolver
ensp
ENSP00000410263
resolver
ensp
ENSP00000433130
resolver
ensp
ENSP00000436469
resolver
ensp
ENSP00000500891
resolver
ensp
ENSP00000518552
resolver
ensp
ENSP00000519052
resolver
ensp
ENSP00000544014
resolver
ensp
ENSP00000544015
resolver
ensp
ENSP00000544019
resolver
ensp
ENSP00000544021
resolver
ensp
ENSP00000544022
resolver
ensp
ENSP00000544023
resolver
ensp
ENSP00000608286
resolver
ensp
ENSP00000608287
resolver
ensp
ENSP00000608291
resolver
ensp
ENSP00000608293
resolver
ensp
ENSP00000608300
resolver
ensp
ENSP00000608302
resolver
ensp
ENSP00000608303
resolver
ensp
ENSP00000616316
resolver
ensp
ENSP00000616331
resolver
ensp
ENSP00000616334
resolver
enst
ENST00000483127
resolver
enst
ENST00000528013
resolver
enst
ENST00000710952
resolver
enst
ENST00000713751
resolver
enst
ENST00000873963
resolver
enst
ENST00000938232
resolver
enst
ENST00000946272
resolver
genesymbol
MUTYH
resolver
genesymbol_syn
MYH
resolver
hgnc
HGNC:7527
resolver
uniprot
A0AAQ5BGW7
resolver
uniprot
D3DPZ4
resolver
uniprot
E5KP25
resolver
uniprot
E5KP26
resolver
uniprot
E5KP27
resolver
uniprot
E5KP28
resolver
uniprot
E9PM53
resolver
uniprot
E9PP34
resolver
uniprot
Q15830
resolver
uniprot
Q9UBP2
resolver
uniprot
Q9UBS7
resolver
uniprot
Q9UIF4
resolver
uniprot
Q9UIF5
resolver
uniprot
Q9UIF6
resolver
uniprot_entry
A0AAQ5BGW7_HUMAN
resolver
uniprot_entry
E5KP25_HUMAN
resolver
uniprot_entry
E5KP26_HUMAN
resolver
uniprot_entry
E5KP27_HUMAN
resolver
uniprot_entry
E5KP28_HUMAN
resolver
uniprot_entry
E9PM53_HUMAN
resolver
uniprot_entry
E9PP34_HUMAN
resolver
uniprot_entry
MUTYH_HUMAN
resolver
uniprot_sec
D3DPZ4
resolver
uniprot_sec
Q15830
resolver
uniprot_sec
Q9UBP2
resolver
uniprot_sec
Q9UBS7
resolver
uniprot_sec
Q9UIF4
resolver
uniprot_sec
Q9UIF5
resolver
uniprot_sec
Q9UIF6
resolver
amino_acid_sequence
MTPLVSRLSRLWAIMRKPRAAVGSGHRKQAASQEGRQKHAKNNSQAKPSACDGMIAECPGAPAGLARQPEEVVLQASVSSYHLFRDVAEVTAFRGSLLSWYDQEKRDLPWRRRAEDEMDLDRRAYAVWVSEVMLQQTQVATVINYYTGWMQKWPTLQDLASASLEEVNQLWAGLGYYSRGRRLQEGARKVVEELGGHMPRTAETLQQLLPGVGRYTAGAIASIAFGQATGVVDGNVARVLCRVRAIGADPSSTLVSQQLWGLAQQLVDPARPGDFNQAAMELGATVCTPQRPLCSQCPVESLCRARQRVEQEQLLASGSLSGSPDVEECAPNTGQCHLCLPPSEPWDQTLGVVNFPRKASRKPPREESSATCVLEQPGALGAQILLVQRPNSGLLAGLWEFPSVTWEPSEQLQRKALLQELQRWAGPLPATHLRHLGEVVHTFSHIKLTYQVYGLALEGQTPVTTVPPGARWLTQEEFHTAAVSTAMKKVFRVYQGQQPGTCMGSKRSQVSSPCSRKKPRMGQQVLDNFFRSHISTDAHSLNSAAQ
uniprot
proteins
disease_involvement
DISEASE: 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:0000269|PubMed:11818965, ECO:0000269|PubMed:12606733, ECO:0000269|PubMed:12853198, ECO:0000269|PubMed:15366000, ECO:0000269|PubMed:16134147, ECO:0000269|PubMed:16287072, ECO:0000269|PubMed:16557584, ECO:0000269|PubMed:16941501, ECO:0000269|PubMed:18091433, ECO:0000269|PubMed:18515411, ECO:0000269|PubMed:19953527, ECO:0000269|PubMed:20418187, ECO:0000269|PubMed:20848659, ECO:0000269|PubMed:25820570, ECO:0000269|PubMed:26694661}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: 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:0000269|PubMed:15273732, ECO:0000269|PubMed:25820570}. 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:0000269|PubMed:15273732}.
uniprot
proteins
ec_number
3.2.2.31
uniprot
proteins
function
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:0000269|PubMed:10684930, ECO:0000269|PubMed:20418187, ECO:0000269|PubMed:20848659, ECO:0000269|PubMed:25820570, ECO:0000269|PubMed:26694661}.
uniprot
proteins
mass_dalton
60069
uniprot
proteins
mutagenesis
MUTAGEN 121; /note="D->G: Does not affect DNA glycosylase activity. Does not affect function in DNA repair."; /evidence="ECO:0000269|PubMed:26694661"; MUTAGEN 233; /note="D->N: Loss of DNA glycosylase activity."; /evidence="ECO:0000269|PubMed:20848659
uniprot
proteins
protein_family
Nth/MutY family
uniprot
proteins
pubmed
10684930
uniprot
proteins
pubmed
11818965
uniprot
proteins
pubmed
12606733
uniprot
proteins
pubmed
12853198
uniprot
proteins
pubmed
15273732
uniprot
proteins
pubmed
15366000
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16134147
uniprot
proteins
pubmed
16287072
uniprot
proteins
pubmed
16557584
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
16941501
uniprot
proteins
pubmed
18091433
uniprot
proteins
pubmed
18515411
uniprot
proteins
pubmed
19953527
uniprot
proteins
pubmed
20418187
uniprot
proteins
pubmed
20843780
uniprot
proteins
pubmed
20848659
uniprot
proteins
pubmed
25820570
uniprot
proteins
pubmed
26694661
uniprot
proteins
pubmed
8682794
uniprot
proteins
sequence_length
546
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:25820570}. Mitochondrion {ECO:0000250|UniProtKB:Q99P21}.
uniprot
proteins