UniProtKB - Q9UIF7 (MUTYH_HUMAN)
Adenine DNA glycosylase
MUTYH
Functioni
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.
5 PublicationsCatalytic activityi
- Hydrolyzes free adenine bases from 7,8-dihydro-8-oxoguanine:adenine mismatched double-stranded DNA, leaving an apurinic site.1 Publication EC:3.2.2.31
Cofactori
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Active sitei | 131 | Proton donor/acceptorBy similarity | 1 | |
Sitei | 233 | Transition state stabilizerBy similarity | 1 | |
Metal bindingi | 287 | Iron-sulfur (4Fe-4S)By similarity | 1 | |
Metal bindingi | 294 | Iron-sulfur (4Fe-4S)By similarity | 1 | |
Metal bindingi | 297 | Iron-sulfur (4Fe-4S)By similarity | 1 | |
Metal bindingi | 303 | Iron-sulfur (4Fe-4S)By similarity | 1 |
GO - Molecular functioni
- 4 iron, 4 sulfur cluster binding Source: UniProtKB-KW
- 8-oxo-7,8-dihydroguanine DNA N-glycosylase activity Source: GO_Central
- adenine/guanine mispair binding Source: GO_Central
- DNA N-glycosylase activity Source: Reactome
- metal ion binding Source: UniProtKB-KW
- MutSalpha complex binding Source: HGNC-UCL
- oxidized purine DNA binding Source: GO_Central
- purine-specific mismatch base pair DNA N-glycosylase activity Source: UniProtKB
GO - Biological processi
- base-excision repair Source: GO_Central
- depurination Source: Reactome
- DNA repair Source: ProtInc
- mismatch repair Source: GO_Central
Keywordsi
Molecular function | Glycosidase, Hydrolase |
Biological process | DNA damage, DNA repair |
Ligand | 4Fe-4S, Iron, Iron-sulfur, Metal-binding |
Enzyme and pathway databases
PathwayCommonsi | Q9UIF7 |
Reactomei | R-HSA-110330, Recognition and association of DNA glycosylase with site containing an affected purine R-HSA-110331, Cleavage of the damaged purine R-HSA-110357, Displacement of DNA glycosylase by APEX1 R-HSA-9608287, Defective MUTYH substrate binding [Q9UIF7-3] R-HSA-9608290, Defective MUTYH substrate processing |
SignaLinki | Q9UIF7 |
SIGNORi | Q9UIF7 |
Names & Taxonomyi
Protein namesi | Recommended name: Adenine DNA glycosylase (EC:3.2.2.311 Publication)Alternative name(s): MutY homolog Short name: hMYH |
Gene namesi | Name:MUTYH Synonyms:MYH |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:7527, MUTYH |
MIMi | 604933, gene |
neXtProti | NX_Q9UIF7 |
VEuPathDBi | HostDB:ENSG00000132781 |
Subcellular locationi
Nucleus
- Nucleus 1 Publication
Mitochondrion
- Mitochondrion By similarity
Mitochondrion
- mitochondrion Source: UniProtKB-SubCell
Nucleus
- nucleoplasm Source: HPA
- nucleus Source: GO_Central
Keywords - Cellular componenti
Mitochondrion, NucleusPathology & Biotechi
Involvement in diseasei
Familial adenomatous polyposis 2 (FAP2)15 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_077640 | 18 | P → L in FAP2; also found in multiple polyposis, colorectal and lung cancer cases; unknown pathological significance; decreased function in DNA repair. 1 PublicationCorresponds to variant dbSNP:rs79777494Ensembl. | 1 | |
Natural variantiVAR_026045 | 125 | Y → H in FAP2; decreased function in DNA repair. 2 Publications | 1 | |
Natural variantiVAR_026046 | 128 | W → R in FAP2; loss of function in DNA repair. 2 PublicationsCorresponds to variant dbSNP:rs730881832Ensembl. | 1 | |
Natural variantiVAR_064938 | 148 | G → GIW in FAP2; reduced DNA glycosylase activity; decreased DNA binding; loss of function in DNA repair. 3 Publications | 1 | |
Natural variantiVAR_077646 | 154 | P → L in FAP2; decreased function in DNA repair. 2 PublicationsCorresponds to variant dbSNP:rs777184451Ensembl. | 1 | |
Natural variantiVAR_018873 | 176 | Y → C in FAP2; loss of DNA glycosylase activity; decreased DNA binding; loss of function in DNA repair. 12 PublicationsCorresponds to variant dbSNP:rs34612342Ensembl. | 1 | |
Natural variantiVAR_077647 | 177 | Y → S in FAP2. 1 Publication | 1 | |
Natural variantiVAR_064939 | 179 | R → C in FAP2; also found in multiple polyposis and colorectal cancer cases; loss of function in DNA repair. 2 PublicationsCorresponds to variant dbSNP:rs747993448Ensembl. | 1 | |
Natural variantiVAR_026047 | 179 | R → H in FAP2; loss of DNA glycosylase activity; loss of function in DNA repair. 4 PublicationsCorresponds to variant dbSNP:rs143353451Ensembl. | 1 | |
Natural variantiVAR_077648 | 182 | R → Q in FAP2; loss of function in DNA repair. 2 PublicationsCorresponds to variant dbSNP:rs533899702Ensembl. | 1 | |
Natural variantiVAR_064940 | 182 | R → W in FAP2; loss of DNA glycosylase activity; loss of DNA binding; loss of function in DNA repair. 3 PublicationsCorresponds to variant dbSNP:rs750592289Ensembl. | 1 | |
Natural variantiVAR_077649 | 186 | G → E in FAP2; decreased function in DNA repair. 1 PublicationCorresponds to variant dbSNP:rs754155145Ensembl. | 1 | |
Natural variantiVAR_077650 | 213 | G → E in FAP2. 1 PublicationCorresponds to variant dbSNP:rs768553551Ensembl. | 1 | |
Natural variantiVAR_077651 | 220 | I → V in FAP2; also found in multiple polyposis case; unknown pathological significance; reduced DNA glycosylase activity; no effect on function in DNA repair. 3 PublicationsCorresponds to variant dbSNP:rs200872702Ensembl. | 1 | |
Natural variantiVAR_077654 | 235 | N → S in FAP2; loss of DNA glycosylase activity; loss of function in DNA repair. 2 PublicationsCorresponds to variant dbSNP:rs1057517765Ensembl. | 1 | |
Natural variantiVAR_026048 | 238 | R → W in FAP2; also found in a case of sporadic colorectal cancer; unknown pathological significance; decreased function in DNA repair. 2 PublicationsCorresponds to variant dbSNP:rs34126013Ensembl. | 1 | |
Natural variantiVAR_077656 | 242 | R → H in FAP2; loss of function in DNA repair. 4 PublicationsCorresponds to variant dbSNP:rs140342925Ensembl. | 1 | |
Natural variantiVAR_077659 | 271 | R → W in FAP2; loss of function in DNA repair. 3 PublicationsCorresponds to variant dbSNP:rs769237459Ensembl. | 1 | |
Natural variantiVAR_077660 | 280 | M → V in FAP2; reduced DNA glycosylase activity. 2 PublicationsCorresponds to variant dbSNP:rs876659676Ensembl. | 1 | |
Natural variantiVAR_077661 | 283 | G → E in FAP2; also found in a patient with multiple polyps; unknown pathological significance; does not affect function in DNA repair. 1 PublicationCorresponds to variant dbSNP:rs730881833Ensembl. | 1 | |
Natural variantiVAR_077663 | 292 | P → L in FAP2; also found in multiple polyposis cases; loss of function in DNA repair. 3 PublicationsCorresponds to variant dbSNP:rs374950566Ensembl. | 1 | |
Natural variantiVAR_077664 | 306 | R → C in FAP2; also found in multiple polyposis cases; unknown pathological significance; does not affect DNA glycosylase activity; slightly decreased function in DNA repair. 3 PublicationsCorresponds to variant dbSNP:rs138089183Ensembl. | 1 | |
Natural variantiVAR_077667 | 377 | P → T in FAP2; decreased function in DNA repair. 1 Publication | 1 | |
Natural variantiVAR_077668 | 385 | L → P in FAP2; also found in multiple polyposis cases; loss of DNA glycosylase activity; loss of function in DNA repair. 4 PublicationsCorresponds to variant dbSNP:rs1060501335Ensembl. | 1 | |
Natural variantiVAR_018875 | 393 | G → D in FAP2; reduced DNA glycosylase activity; decreased DNA binding; decreased function in DNA repair. 12 PublicationsCorresponds to variant dbSNP:rs36053993Ensembl. | 1 | |
Natural variantiVAR_077669 | 402 | P → L in FAP2; also found in multiple polyposis and colorectal cancer cases; loss of DNA glycosylase activity; loss of function in DNA repair. 3 PublicationsCorresponds to variant dbSNP:rs529008617Ensembl. | 1 | |
Natural variantiVAR_077670 | 417 | L → M in FAP2; also found in patient with multiple polyps and in a family with non-polyposis colorectal cancer-like syndrome; unknown pathological significance; does not affect function in DNA repair. 1 PublicationCorresponds to variant dbSNP:rs144079536Ensembl. | 1 | |
Natural variantiVAR_077671 | 423 | R → C in FAP2; unknown pathological significance; does not affect function in DNA repair. 3 PublicationsCorresponds to variant dbSNP:rs150792276Ensembl. | 1 | |
Natural variantiVAR_077674 | 470 | A → D in FAP2; loss of function in DNA repair. 1 PublicationCorresponds to variant dbSNP:rs200844166Ensembl. | 1 | |
Natural variantiVAR_077676 | 474 | T → M in FAP2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs767747402Ensembl. | 1 | |
Natural variantiVAR_064941 | 477 | Missing in FAP2; also found in a case of sporadic colorectal cancer; loss of DNA glycosylase activity; loss of DNA binding; loss of function in DNA repair. 6 Publications | 1 | |
Natural variantiVAR_077677 | 486 | A → T in FAP2; decreased function in DNA repair. 1 PublicationCorresponds to variant dbSNP:rs587782263Ensembl. | 1 | |
Natural variantiVAR_077678 | 490 | V → F in FAP2; found also in sporadic colorectal cancer cases; unknown pathological significance; decreased function in DNA repair. 2 PublicationsCorresponds to variant dbSNP:rs587782228Ensembl. | 1 |
Gastric cancer (GASC)2 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_026049 | 402 | P → S in GASC; sporadic; decreased function in DNA repair. 2 PublicationsCorresponds to variant dbSNP:rs121908382Ensembl. | 1 | |
Natural variantiVAR_026050 | 411 | Q → R in GASC; sporadic; unknown pathological significance; does not affect function in DNA repair. 2 PublicationsCorresponds to variant dbSNP:rs121908383Ensembl. | 1 |
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 233 | D → N: Loss of DNA glycosylase activity. 1 Publication | 1 |
Keywords - Diseasei
Disease variant, Tumor suppressorOrganism-specific databases
DisGeNETi | 4595 |
GeneReviewsi | MUTYH |
MalaCardsi | MUTYH |
MIMi | 608456, phenotype 613659, phenotype |
OpenTargetsi | ENSG00000132781 |
Orphaneti | 247798, MUTYH-related attenuated familial adenomatous polyposis |
PharmGKBi | PA31328 |
Miscellaneous databases
Pharosi | Q9UIF7, Tbio |
Genetic variation databases
BioMutai | MUTYH |
DMDMi | 48428272 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000102239 | 1 – 546 | Adenine DNA glycosylaseAdd BLAST | 546 |
Proteomic databases
EPDi | Q9UIF7 |
jPOSTi | Q9UIF7 |
MassIVEi | Q9UIF7 |
MaxQBi | Q9UIF7 |
PaxDbi | Q9UIF7 |
PeptideAtlasi | Q9UIF7 |
PRIDEi | Q9UIF7 |
ProteomicsDBi | 84500 [Q9UIF7-1] 84501 [Q9UIF7-2] 84502 [Q9UIF7-3] 84503 [Q9UIF7-4] 84504 [Q9UIF7-5] 84505 [Q9UIF7-6] |
PTM databases
iPTMneti | Q9UIF7 |
PhosphoSitePlusi | Q9UIF7 |
Expressioni
Gene expression databases
Bgeei | ENSG00000132781, Expressed in right hemisphere of cerebellum and 225 other tissues |
ExpressionAtlasi | Q9UIF7, baseline and differential |
Genevisiblei | Q9UIF7, HS |
Organism-specific databases
HPAi | ENSG00000132781, Low tissue specificity |
Interactioni
Binary interactionsi
Isoform Alpha-3 [Q9UIF7-3]
With | #Exp. | IntAct |
---|---|---|
AGTRAP [Q6RW13] | 3 | EBI-10321956,EBI-741181 |
Protein-protein interaction databases
BioGRIDi | 110681, 27 interactors |
DIPi | DIP-41972N |
IntActi | Q9UIF7, 16 interactors |
MINTi | Q9UIF7 |
STRINGi | 9606.ENSP00000361170 |
Miscellaneous databases
RNActi | Q9UIF7, protein |
Structurei
Secondary structure
3D structure databases
AlphaFoldDBi | Q9UIF7 |
SMRi | Q9UIF7 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | Q9UIF7 |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 364 – 495 | Nudix hydrolasePROSITE-ProRule annotationAdd BLAST | 132 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 19 – 51 | DisorderedSequence analysisAdd BLAST | 33 |
Motif
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Motifi | 404 – 426 | Nudix boxAdd BLAST | 23 |
Sequence similaritiesi
Phylogenomic databases
eggNOGi | KOG2457, Eukaryota |
GeneTreei | ENSGT00510000047220 |
HOGENOMi | CLU_012862_0_0_1 |
InParanoidi | Q9UIF7 |
OMAi | THIRLKM |
OrthoDBi | 616758at2759 |
PhylomeDBi | Q9UIF7 |
TreeFami | TF328549 |
Family and domain databases
CDDi | cd03431, DNA_Glycosylase_C, 1 hit cd00056, ENDO3c, 1 hit |
Gene3Di | 1.10.1670.10, 1 hit |
InterProi | View protein in InterPro IPR011257, DNA_glycosylase IPR004036, Endonuclease-III-like_CS2 IPR003651, Endonuclease3_FeS-loop_motif IPR004035, Endouclease-III_FeS-bd_BS IPR003265, HhH-GPD_domain IPR023170, HhH_base_excis_C IPR000445, HhH_motif IPR044298, MIG/MutY IPR029119, MutY_C IPR015797, NUDIX_hydrolase-like_dom_sf IPR000086, NUDIX_hydrolase_dom |
PANTHERi | PTHR42944, PTHR42944, 1 hit |
Pfami | View protein in Pfam PF00633, HHH, 1 hit PF00730, HhH-GPD, 1 hit PF14815, NUDIX_4, 1 hit |
SMARTi | View protein in SMART SM00478, ENDO3c, 1 hit SM00525, FES, 1 hit |
SUPFAMi | SSF48150, SSF48150, 1 hit SSF55811, SSF55811, 1 hit |
PROSITEi | View protein in PROSITE PS00764, ENDONUCLEASE_III_1, 1 hit PS01155, ENDONUCLEASE_III_2, 1 hit PS51462, NUDIX, 1 hit |
s (6+)i Sequence
Sequence statusi: Complete.
This entry describes 6 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 6 described isoforms and 20 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MTPLVSRLSR LWAIMRKPRA AVGSGHRKQA ASQEGRQKHA KNNSQAKPSA
60 70 80 90 100
CDGMIAECPG APAGLARQPE EVVLQASVSS YHLFRDVAEV TAFRGSLLSW
110 120 130 140 150
YDQEKRDLPW RRRAEDEMDL DRRAYAVWVS EVMLQQTQVA TVINYYTGWM
160 170 180 190 200
QKWPTLQDLA SASLEEVNQL WAGLGYYSRG RRLQEGARKV VEELGGHMPR
210 220 230 240 250
TAETLQQLLP GVGRYTAGAI ASIAFGQATG VVDGNVARVL CRVRAIGADP
260 270 280 290 300
SSTLVSQQLW GLAQQLVDPA RPGDFNQAAM ELGATVCTPQ RPLCSQCPVE
310 320 330 340 350
SLCRARQRVE QEQLLASGSL SGSPDVEECA PNTGQCHLCL PPSEPWDQTL
360 370 380 390 400
GVVNFPRKAS RKPPREESSA TCVLEQPGAL GAQILLVQRP NSGLLAGLWE
410 420 430 440 450
FPSVTWEPSE QLQRKALLQE LQRWAGPLPA THLRHLGEVV HTFSHIKLTY
460 470 480 490 500
QVYGLALEGQ TPVTTVPPGA RWLTQEEFHT AAVSTAMKKV FRVYQGQQPG
510 520 530 540
TCMGSKRSQV SSPCSRKKPR MGQQVLDNFF RSHISTDAHS LNSAAQ
The sequence of this isoform differs from the canonical sequence as follows:
53-62: Missing.
The sequence of this isoform differs from the canonical sequence as follows:
53-63: Missing.
The sequence of this isoform differs from the canonical sequence as follows:
1-14: Missing.
The sequence of this isoform differs from the canonical sequence as follows:
1-14: Missing.
53-62: Missing.
The sequence of this isoform differs from the canonical sequence as follows:
1-14: Missing.
53-63: Missing.
Computationally mapped potential isoform sequencesi
There are 20 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketA0A5F9ZI14 | A0A5F9ZI14_HUMAN | Adenine DNA glycosylase | MUTYH | 466 | Annotation score: | ||
E9PM53 | E9PM53_HUMAN | Adenine DNA glycosylase | MUTYH | 535 | Annotation score: | ||
E9PNY0 | E9PNY0_HUMAN | Adenine DNA glycosylase | MUTYH | 216 | Annotation score: | ||
H0YCY5 | H0YCY5_HUMAN | Adenine DNA glycosylase | MUTYH | 213 | Annotation score: | ||
Q5T418 | Q5T418_HUMAN | Adenine DNA glycosylase | MUTYH | 215 | Annotation score: | ||
Q5T413 | Q5T413_HUMAN | Adenine DNA glycosylase | MUTYH | 291 | Annotation score: | ||
H0YEI2 | H0YEI2_HUMAN | Adenine DNA glycosylase | MUTYH | 184 | Annotation score: | ||
E9PP34 | E9PP34_HUMAN | Adenine DNA glycosylase | MUTYH | 94 | Annotation score: | ||
E9PLT4 | E9PLT4_HUMAN | Adenine DNA glycosylase | MUTYH | 62 | Annotation score: | ||
A0A5F9ZHI2 | A0A5F9ZHI2_HUMAN | Adenine DNA glycosylase | MUTYH | 212 | Annotation score: | ||
There are more potential isoformsShow all |
Sequence cautioni
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_077640 | 18 | P → L in FAP2; also found in multiple polyposis, colorectal and lung cancer cases; unknown pathological significance; decreased function in DNA repair. 1 PublicationCorresponds to variant dbSNP:rs79777494Ensembl. | 1 | |
Natural variantiVAR_018872 | 22 | V → M Does not affect function in DNA repair. 6 PublicationsCorresponds to variant dbSNP:rs3219484Ensembl. | 1 | |
Natural variantiVAR_077641 | 25 | G → D Does not affect function in DNA repair. 1 PublicationCorresponds to variant dbSNP:rs75321043Ensembl. | 1 | |
Natural variantiVAR_077642 | 72 | V → E Likely benign variant; does not affect DNA glycosylase activity. 1 Publication | 1 | |
Natural variantiVAR_077643 | 100 | W → R Found in sporadic hepatocellular carcinoma; unknown pathological significance; loss of function in DNA repair. 1 PublicationCorresponds to variant dbSNP:rs1140507Ensembl. | 1 | |
Natural variantiVAR_077644 | 102 | D → N Found in multiple polyposis and sporadic colorectal cancer cases; unknown pathological significance; does not affect DNA glycosylase activity; does not affect function in DNA repair. 2 PublicationsCorresponds to variant dbSNP:rs587780746Ensembl. | 1 | |
Natural variantiVAR_077645 | 121 | D → G Likely benign variant; does not affect DNA glycosylase activity; does not affect function in DNA repair. 1 Publication | 1 | |
Natural variantiVAR_026045 | 125 | Y → H in FAP2; decreased function in DNA repair. 2 Publications | 1 | |
Natural variantiVAR_026046 | 128 | W → R in FAP2; loss of function in DNA repair. 2 PublicationsCorresponds to variant dbSNP:rs730881832Ensembl. | 1 | |
Natural variantiVAR_064938 | 148 | G → GIW in FAP2; reduced DNA glycosylase activity; decreased DNA binding; loss of function in DNA repair. 3 Publications | 1 | |
Natural variantiVAR_077646 | 154 | P → L in FAP2; decreased function in DNA repair. 2 PublicationsCorresponds to variant dbSNP:rs777184451Ensembl. | 1 | |
Natural variantiVAR_018873 | 176 | Y → C in FAP2; loss of DNA glycosylase activity; decreased DNA binding; loss of function in DNA repair. 12 PublicationsCorresponds to variant dbSNP:rs34612342Ensembl. | 1 | |
Natural variantiVAR_077647 | 177 | Y → S in FAP2. 1 Publication | 1 | |
Natural variantiVAR_064939 | 179 | R → C in FAP2; also found in multiple polyposis and colorectal cancer cases; loss of function in DNA repair. 2 PublicationsCorresponds to variant dbSNP:rs747993448Ensembl. | 1 | |
Natural variantiVAR_026047 | 179 | R → H in FAP2; loss of DNA glycosylase activity; loss of function in DNA repair. 4 PublicationsCorresponds to variant dbSNP:rs143353451Ensembl. | 1 | |
Natural variantiVAR_077648 | 182 | R → Q in FAP2; loss of function in DNA repair. 2 PublicationsCorresponds to variant dbSNP:rs533899702Ensembl. | 1 | |
Natural variantiVAR_064940 | 182 | R → W in FAP2; loss of DNA glycosylase activity; loss of DNA binding; loss of function in DNA repair. 3 PublicationsCorresponds to variant dbSNP:rs750592289Ensembl. | 1 | |
Natural variantiVAR_077649 | 186 | G → E in FAP2; decreased function in DNA repair. 1 PublicationCorresponds to variant dbSNP:rs754155145Ensembl. | 1 | |
Natural variantiVAR_077650 | 213 | G → E in FAP2. 1 PublicationCorresponds to variant dbSNP:rs768553551Ensembl. | 1 | |
Natural variantiVAR_077651 | 220 | I → V in FAP2; also found in multiple polyposis case; unknown pathological significance; reduced DNA glycosylase activity; no effect on function in DNA repair. 3 PublicationsCorresponds to variant dbSNP:rs200872702Ensembl. | 1 | |
Natural variantiVAR_077652 | 224 | A → V Decreased function in DNA repair. 1 PublicationCorresponds to variant dbSNP:rs11545695Ensembl. | 1 | |
Natural variantiVAR_077653 | 231 | V → M Probable disease-associated variant found in a case of familial colorectal cancer; no significant effect on DNA glycosylase activity; slightly decreased function in DNA repair. 2 PublicationsCorresponds to variant dbSNP:rs200165598Ensembl. | 1 | |
Natural variantiVAR_077654 | 235 | N → S in FAP2; loss of DNA glycosylase activity; loss of function in DNA repair. 2 PublicationsCorresponds to variant dbSNP:rs1057517765Ensembl. | 1 | |
Natural variantiVAR_026048 | 238 | R → W in FAP2; also found in a case of sporadic colorectal cancer; unknown pathological significance; decreased function in DNA repair. 2 PublicationsCorresponds to variant dbSNP:rs34126013Ensembl. | 1 | |
Natural variantiVAR_077655 | 242 | R → C Probable disease-associated variant found in multiple polyposis cases; decreased function in DNA repair. 1 PublicationCorresponds to variant dbSNP:rs200495564Ensembl. | 1 | |
Natural variantiVAR_077656 | 242 | R → H in FAP2; loss of function in DNA repair. 4 PublicationsCorresponds to variant dbSNP:rs140342925Ensembl. | 1 | |
Natural variantiVAR_077657 | 243 | V → F Does not affect function. 1 PublicationCorresponds to variant dbSNP:rs587780749Ensembl. | 1 | |
Natural variantiVAR_077658 | 244 | R → G Reduced DNA glycosylase activity; decreased function in DNA repair. 1 PublicationCorresponds to variant dbSNP:rs587782885Ensembl. | 1 | |
Natural variantiVAR_077659 | 271 | R → W in FAP2; loss of function in DNA repair. 3 PublicationsCorresponds to variant dbSNP:rs769237459Ensembl. | 1 | |
Natural variantiVAR_077660 | 280 | M → V in FAP2; reduced DNA glycosylase activity. 2 PublicationsCorresponds to variant dbSNP:rs876659676Ensembl. | 1 | |
Natural variantiVAR_077661 | 283 | G → E in FAP2; also found in a patient with multiple polyps; unknown pathological significance; does not affect function in DNA repair. 1 PublicationCorresponds to variant dbSNP:rs730881833Ensembl. | 1 | |
Natural variantiVAR_077662 | 287 | C → W Found in a case of sporadic lung cancer; unknown pathological significance; loss of function in DNA repair. 1 Publication | 1 | |
Natural variantiVAR_077663 | 292 | P → L in FAP2; also found in multiple polyposis cases; loss of function in DNA repair. 3 PublicationsCorresponds to variant dbSNP:rs374950566Ensembl. | 1 | |
Natural variantiVAR_077664 | 306 | R → C in FAP2; also found in multiple polyposis cases; unknown pathological significance; does not affect DNA glycosylase activity; slightly decreased function in DNA repair. 3 PublicationsCorresponds to variant dbSNP:rs138089183Ensembl. | 1 | |
Natural variantiVAR_077665 | 319 | S → N Does not affect DNA glycosylase activity; does not affect function in DNA repair. 1 PublicationCorresponds to variant dbSNP:rs587781810Ensembl. | 1 | |
Natural variantiVAR_018874 | 335 | Q → H Does not affect function in DNA repair. 6 PublicationsCorresponds to variant dbSNP:rs3219489Ensembl. | 1 | |
Natural variantiVAR_077666 | 335 | Q → R Found in a family with non-polyposis colorectal cancer-like syndrome; unknown pathological significance; does not affect function in DNA repair. 1 PublicationCorresponds to variant dbSNP:rs199742231Ensembl. | 1 | |
Natural variantiVAR_048262 | 370 | A → V Does not affect DNA glycosylase activity. 1 PublicationCorresponds to variant dbSNP:rs35352891Ensembl. | 1 | |
Natural variantiVAR_077667 | 377 | P → T in FAP2; decreased function in DNA repair. 1 Publication | 1 | |
Natural variantiVAR_077668 | 385 | L → P in FAP2; also found in multiple polyposis cases; loss of DNA glycosylase activity; loss of function in DNA repair. 4 PublicationsCorresponds to variant dbSNP:rs1060501335Ensembl. | 1 | |
Natural variantiVAR_018875 | 393 | G → D in FAP2; reduced DNA glycosylase activity; decreased DNA binding; decreased function in DNA repair. 12 PublicationsCorresponds to variant dbSNP:rs36053993Ensembl. | 1 | |
Natural variantiVAR_077669 | 402 | P → L in FAP2; also found in multiple polyposis and colorectal cancer cases; loss of DNA glycosylase activity; loss of function in DNA repair. 3 PublicationsCorresponds to variant dbSNP:rs529008617Ensembl. | 1 | |
Natural variantiVAR_026049 | 402 | P → S in GASC; sporadic; decreased function in DNA repair. 2 PublicationsCorresponds to variant dbSNP:rs121908382Ensembl. | 1 | |
Natural variantiVAR_026050 | 411 | Q → R in GASC; sporadic; unknown pathological significance; does not affect function in DNA repair. 2 PublicationsCorresponds to variant dbSNP:rs121908383Ensembl. | 1 | |
Natural variantiVAR_077670 | 417 | L → M in FAP2; also found in patient with multiple polyps and in a family with non-polyposis colorectal cancer-like syndrome; unknown pathological significance; does not affect function in DNA repair. 1 PublicationCorresponds to variant dbSNP:rs144079536Ensembl. | 1 | |
Natural variantiVAR_077671 | 423 | R → C in FAP2; unknown pathological significance; does not affect function in DNA repair. 3 PublicationsCorresponds to variant dbSNP:rs150792276Ensembl. | 1 | |
Natural variantiVAR_077672 | 434 | R → P Found in sporadic colorectal cancer cases; unknown pathological significance; decreased function in DNA repair. 1 Publication | 1 | |
Natural variantiVAR_077673 | 434 | R → Q Does not affect function in DNA repair. 1 PublicationCorresponds to variant dbSNP:rs587782120Ensembl. | 1 | |
Natural variantiVAR_077674 | 470 | A → D in FAP2; loss of function in DNA repair. 1 PublicationCorresponds to variant dbSNP:rs200844166Ensembl. | 1 | |
Natural variantiVAR_077675 | 470 | A → T Found in patient with multiple polyposis; unknown pathological significance; does not affect function in DNA repair. 1 PublicationCorresponds to variant dbSNP:rs192816572Ensembl. | 1 | |
Natural variantiVAR_077676 | 474 | T → M in FAP2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs767747402Ensembl. | 1 | |
Natural variantiVAR_064941 | 477 | Missing in FAP2; also found in a case of sporadic colorectal cancer; loss of DNA glycosylase activity; loss of DNA binding; loss of function in DNA repair. 6 Publications | 1 | |
Natural variantiVAR_077677 | 486 | A → T in FAP2; decreased function in DNA repair. 1 PublicationCorresponds to variant dbSNP:rs587782263Ensembl. | 1 | |
Natural variantiVAR_077678 | 490 | V → F in FAP2; found also in sporadic colorectal cancer cases; unknown pathological significance; decreased function in DNA repair. 2 PublicationsCorresponds to variant dbSNP:rs587782228Ensembl. | 1 | |
Natural variantiVAR_018876 | 500 | G → E Decreased function in DNA repair. 2 PublicationsCorresponds to variant dbSNP:rs3219494Ensembl. | 1 | |
Natural variantiVAR_026051 | 512 | S → F Does not affect DNA glycosylase activity; does not affect function in DNA repair. 4 PublicationsCorresponds to variant dbSNP:rs140118273Ensembl. | 1 | |
Natural variantiVAR_077679 | 513 | P → L Does not affect function in DNA repair. 1 PublicationCorresponds to variant dbSNP:rs587778542Ensembl. | 1 | |
Natural variantiVAR_077680 | 520 | R → H Does not affect DNA glycosylase activity; does not affect function in DNA repair. 1 PublicationCorresponds to variant dbSNP:rs374655042Ensembl. | 1 | |
Natural variantiVAR_018877 | 526 | L → M Does not affect function in DNA repair. 2 PublicationsCorresponds to variant dbSNP:rs3219496Ensembl. | 1 | |
Natural variantiVAR_018878 | 531 | R → Q Does not affect function in DNA repair. 2 PublicationsCorresponds to variant dbSNP:rs3219497Ensembl. | 1 | |
Natural variantiVAR_077681 | 536 | T → A Does not affect DNA glycosylase activity; does not affect function in DNA repair. 1 PublicationCorresponds to variant dbSNP:rs151196169Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_010548 | 1 – 14 | Missing in isoform Beta-1, isoform Gamma-2 and isoform Gamma-3. 1 PublicationAdd BLAST | 14 | |
Alternative sequenceiVSP_010550 | 53 – 63 | Missing in isoform Alpha-3 and isoform Gamma-3. 2 PublicationsAdd BLAST | 11 | |
Alternative sequenceiVSP_010549 | 53 – 62 | Missing in isoform Alpha-2 and isoform Gamma-2. 1 Publication | 10 |
Sequence databases
Genome annotation databases
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Web resourcesi
Atlas of Genetics and Cytogenetics in Oncology and Haematology |
NIEHS-SNPs |
Sequence databases
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
1X51 | NMR | - | A | 356-497 | [»] | |
3N5N | X-ray | 2.30 | X/Y | 76-362 | [»] | |
AlphaFoldDBi | Q9UIF7 | |||||
SMRi | Q9UIF7 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 110681, 27 interactors |
DIPi | DIP-41972N |
IntActi | Q9UIF7, 16 interactors |
MINTi | Q9UIF7 |
STRINGi | 9606.ENSP00000361170 |
PTM databases
iPTMneti | Q9UIF7 |
PhosphoSitePlusi | Q9UIF7 |
Genetic variation databases
BioMutai | MUTYH |
DMDMi | 48428272 |
Proteomic databases
EPDi | Q9UIF7 |
jPOSTi | Q9UIF7 |
MassIVEi | Q9UIF7 |
MaxQBi | Q9UIF7 |
PaxDbi | Q9UIF7 |
PeptideAtlasi | Q9UIF7 |
PRIDEi | Q9UIF7 |
ProteomicsDBi | 84500 [Q9UIF7-1] 84501 [Q9UIF7-2] 84502 [Q9UIF7-3] 84503 [Q9UIF7-4] 84504 [Q9UIF7-5] 84505 [Q9UIF7-6] |
Protocols and materials databases
Antibodypediai | 1869, 334 antibodies from 41 providers |
CPTCi | Q9UIF7, 1 antibody |
DNASUi | 4595 |
Genome annotation databases
Organism-specific databases
CTDi | 4595 |
DisGeNETi | 4595 |
GeneCardsi | MUTYH |
GeneReviewsi | MUTYH |
HGNCi | HGNC:7527, MUTYH |
HPAi | ENSG00000132781, Low tissue specificity |
MalaCardsi | MUTYH |
MIMi | 604933, gene 608456, phenotype 613659, phenotype |
neXtProti | NX_Q9UIF7 |
OpenTargetsi | ENSG00000132781 |
Orphaneti | 247798, MUTYH-related attenuated familial adenomatous polyposis |
PharmGKBi | PA31328 |
VEuPathDBi | HostDB:ENSG00000132781 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG2457, Eukaryota |
GeneTreei | ENSGT00510000047220 |
HOGENOMi | CLU_012862_0_0_1 |
InParanoidi | Q9UIF7 |
OMAi | THIRLKM |
OrthoDBi | 616758at2759 |
PhylomeDBi | Q9UIF7 |
TreeFami | TF328549 |
Enzyme and pathway databases
PathwayCommonsi | Q9UIF7 |
Reactomei | R-HSA-110330, Recognition and association of DNA glycosylase with site containing an affected purine R-HSA-110331, Cleavage of the damaged purine R-HSA-110357, Displacement of DNA glycosylase by APEX1 R-HSA-9608287, Defective MUTYH substrate binding [Q9UIF7-3] R-HSA-9608290, Defective MUTYH substrate processing |
SignaLinki | Q9UIF7 |
SIGNORi | Q9UIF7 |
Miscellaneous databases
BioGRID-ORCSi | 4595, 17 hits in 1080 CRISPR screens |
EvolutionaryTracei | Q9UIF7 |
GeneWikii | MUTYH |
GenomeRNAii | 4595 |
Pharosi | Q9UIF7, Tbio |
PROi | PR:Q9UIF7 |
RNActi | Q9UIF7, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000132781, Expressed in right hemisphere of cerebellum and 225 other tissues |
ExpressionAtlasi | Q9UIF7, baseline and differential |
Genevisiblei | Q9UIF7, HS |
Family and domain databases
CDDi | cd03431, DNA_Glycosylase_C, 1 hit cd00056, ENDO3c, 1 hit |
Gene3Di | 1.10.1670.10, 1 hit |
InterProi | View protein in InterPro IPR011257, DNA_glycosylase IPR004036, Endonuclease-III-like_CS2 IPR003651, Endonuclease3_FeS-loop_motif IPR004035, Endouclease-III_FeS-bd_BS IPR003265, HhH-GPD_domain IPR023170, HhH_base_excis_C IPR000445, HhH_motif IPR044298, MIG/MutY IPR029119, MutY_C IPR015797, NUDIX_hydrolase-like_dom_sf IPR000086, NUDIX_hydrolase_dom |
PANTHERi | PTHR42944, PTHR42944, 1 hit |
Pfami | View protein in Pfam PF00633, HHH, 1 hit PF00730, HhH-GPD, 1 hit PF14815, NUDIX_4, 1 hit |
SMARTi | View protein in SMART SM00478, ENDO3c, 1 hit SM00525, FES, 1 hit |
SUPFAMi | SSF48150, SSF48150, 1 hit SSF55811, SSF55811, 1 hit |
PROSITEi | View protein in PROSITE PS00764, ENDONUCLEASE_III_1, 1 hit PS01155, ENDONUCLEASE_III_2, 1 hit PS51462, NUDIX, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | MUTYH_HUMAN | |
Accessioni | Q9UIF7Primary (citable) accession number: Q9UIF7 Secondary accession number(s): D3DPZ4 Q9UIF6 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | June 7, 2004 |
Last sequence update: | May 1, 2000 | |
Last modified: | May 25, 2022 | |
This is version 198 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Reference proteomeDocuments
- Human chromosome 1
Human chromosome 1: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families