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Protein

Adenine DNA glycosylase

Gene

MUTYH

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

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 Publications

Catalytic activityi

Hydrolyzes free adenine bases from 7,8-dihydro-8-oxoguanine:adenine mismatched double-stranded DNA, leaving an apurinic site.1 Publication

Cofactori

[4Fe-4S] clusterBy similarityNote: Binds 1 [4Fe-4S] cluster. The cluster does not appear to play a role in catalysis, but is probably involved in the proper positioning of the enzyme along the DNA strand.By similarity

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Active sitei131Proton donor/acceptorBy similarity1
Sitei233Transition state stabilizerBy similarity1
Metal bindingi287Iron-sulfur (4Fe-4S)By similarity1
Metal bindingi294Iron-sulfur (4Fe-4S)By similarity1
Metal bindingi297Iron-sulfur (4Fe-4S)By similarity1
Metal bindingi303Iron-sulfur (4Fe-4S)By similarity1

GO - Molecular functioni

  • 4 iron, 4 sulfur cluster binding Source: UniProtKB-KW
  • DNA binding Source: InterPro
  • DNA N-glycosylase activity Source: Reactome
  • metal ion binding Source: UniProtKB-KW
  • MutSalpha complex binding Source: HGNC
  • purine-specific mismatch base pair DNA N-glycosylase activity Source: UniProtKB

GO - Biological processi

  • depurination Source: Reactome
  • DNA repair Source: ProtInc
  • mismatch repair Source: ProtInc

Keywordsi

Molecular functionGlycosidase, Hydrolase
Biological processDNA damage, DNA repair
Ligand4Fe-4S, Iron, Iron-sulfur, Metal-binding

Enzyme and pathway databases

ReactomeiR-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
SIGNORiQ9UIF7

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
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

EuPathDBiHostDB:ENSG00000132781.17
HGNCiHGNC:7527 MUTYH
MIMi604933 gene
neXtProtiNX_Q9UIF7

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Mitochondrion, Nucleus

Pathology & Biotechi

Involvement in diseasei

Familial adenomatous polyposis 2 (FAP2)15 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA condition characterized by the development of multiple colorectal adenomatous polyps, benign neoplasms derived from glandular epithelium. Some affected individuals may develop colorectal carcinoma.
See also OMIM:608456
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07764018P → 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:rs79777494EnsemblClinVar.1
Natural variantiVAR_026045125Y → H in FAP2; decreased function in DNA repair. 2 Publications1
Natural variantiVAR_026046128W → R in FAP2; loss of function in DNA repair. 2 PublicationsCorresponds to variant dbSNP:rs730881832Ensembl.1
Natural variantiVAR_064938148G → GIW in FAP2; reduced DNA glycosylase activity; decreased DNA binding; loss of function in DNA repair. 3 Publications1
Natural variantiVAR_077646154P → L in FAP2; decreased function in DNA repair. 2 PublicationsCorresponds to variant dbSNP:rs777184451Ensembl.1
Natural variantiVAR_018873176Y → 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_077647177Y → S in FAP2. 1 Publication1
Natural variantiVAR_064939179R → 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_026047179R → H in FAP2; loss of DNA glycosylase activity; loss of function in DNA repair. 4 PublicationsCorresponds to variant dbSNP:rs143353451Ensembl.1
Natural variantiVAR_077648182R → Q in FAP2; loss of function in DNA repair. 2 PublicationsCorresponds to variant dbSNP:rs533899702Ensembl.1
Natural variantiVAR_064940182R → 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_077649186G → E in FAP2; decreased function in DNA repair. 1 PublicationCorresponds to variant dbSNP:rs754155145Ensembl.1
Natural variantiVAR_077650213G → E in FAP2. 1 PublicationCorresponds to variant dbSNP:rs768553551Ensembl.1
Natural variantiVAR_077651220I → 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_077654235N → S in FAP2; loss of DNA glycosylase activity; loss of function in DNA repair. 2 PublicationsCorresponds to variant dbSNP:rs1057517765Ensembl.1
Natural variantiVAR_026048238R → 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_077656242R → H in FAP2; loss of function in DNA repair. 4 PublicationsCorresponds to variant dbSNP:rs140342925Ensembl.1
Natural variantiVAR_077659271R → W in FAP2; loss of function in DNA repair. 3 PublicationsCorresponds to variant dbSNP:rs769237459Ensembl.1
Natural variantiVAR_077660280M → V in FAP2; reduced DNA glycosylase activity. 2 PublicationsCorresponds to variant dbSNP:rs876659676Ensembl.1
Natural variantiVAR_077661283G → 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_077663292P → L in FAP2; also found in multiple polyposis cases; loss of function in DNA repair. 3 PublicationsCorresponds to variant dbSNP:rs374950566Ensembl.1
Natural variantiVAR_077664306R → 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_077667377P → T in FAP2; decreased function in DNA repair. 1 Publication1
Natural variantiVAR_077668385L → 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_018875393G → D in FAP2; reduced DNA glycosylase activity; decreased DNA binding; decreased function in DNA repair. 12 PublicationsCorresponds to variant dbSNP:rs36053993Ensembl.1
Natural variantiVAR_077669402P → 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_077670417L → 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_077671423R → C in FAP2; unknown pathological significance; does not affect function in DNA repair. 3 PublicationsCorresponds to variant dbSNP:rs150792276Ensembl.1
Natural variantiVAR_077674470A → D in FAP2; loss of function in DNA repair. 1 PublicationCorresponds to variant dbSNP:rs200844166Ensembl.1
Natural variantiVAR_077676474T → M in FAP2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs767747402Ensembl.1
Natural variantiVAR_064941477Missing 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 Publications1
Natural variantiVAR_077677486A → T in FAP2; decreased function in DNA repair. 1 PublicationCorresponds to variant dbSNP:rs587782263Ensembl.1
Natural variantiVAR_077678490V → 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
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).1 Publication
Disease descriptionA 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.
See also OMIM:613659
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_026049402P → S in GASC; sporadic; decreased function in DNA repair. 2 PublicationsCorresponds to variant dbSNP:rs121908382Ensembl.1
Natural variantiVAR_026050411Q → R in GASC; sporadic; unknown pathological significance; does not affect function in DNA repair. 2 PublicationsCorresponds to variant dbSNP:rs121908383Ensembl.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi233D → N: Loss of DNA glycosylase activity. 1 Publication1

Keywords - Diseasei

Disease mutation, Tumor suppressor

Organism-specific databases

DisGeNETi4595
GeneReviewsiMUTYH
MalaCardsiMUTYH
MIMi608456 phenotype
613659 phenotype
OpenTargetsiENSG00000132781
Orphaneti26106 Familial gastric cancer
247798 MUTYH-related attenuated familial adenomatous polyposis
PharmGKBiPA31328

Polymorphism and mutation databases

BioMutaiMUTYH
DMDMi48428272

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001022391 – 546Adenine DNA glycosylaseAdd BLAST546

Proteomic databases

EPDiQ9UIF7
PaxDbiQ9UIF7
PeptideAtlasiQ9UIF7
PRIDEiQ9UIF7
ProteomicsDBi84500
84501 [Q9UIF7-2]
84502 [Q9UIF7-3]
84503 [Q9UIF7-4]
84504 [Q9UIF7-5]
84505 [Q9UIF7-6]

PTM databases

iPTMnetiQ9UIF7
PhosphoSitePlusiQ9UIF7

Expressioni

Gene expression databases

BgeeiENSG00000132781
CleanExiHS_MUTYH
ExpressionAtlasiQ9UIF7 baseline and differential
GenevisibleiQ9UIF7 HS

Organism-specific databases

HPAiHPA008732

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
AGTRAPQ6RW133EBI-10321956,EBI-741181

Protein-protein interaction databases

BioGridi110681, 11 interactors
DIPiDIP-41972N
IntActiQ9UIF7, 14 interactors
MINTiQ9UIF7
STRINGi9606.ENSP00000361170

Structurei

Secondary structure

1546
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi87 – 104Combined sources18
Helixi109 – 116Combined sources8
Helixi120 – 135Combined sources16
Helixi139 – 152Combined sources14
Helixi156 – 160Combined sources5
Helixi164 – 171Combined sources8
Helixi177 – 193Combined sources17
Helixi202 – 208Combined sources7
Helixi214 – 224Combined sources11
Helixi234 – 243Combined sources10
Helixi253 – 266Combined sources14
Helixi272 – 285Combined sources14
Beta strandi289 – 291Combined sources3
Helixi300 – 302Combined sources3
Helixi304 – 316Combined sources13
Helixi330 – 332Combined sources3
Beta strandi358 – 360Combined sources3
Beta strandi366 – 377Combined sources12
Beta strandi379 – 388Combined sources10
Beta strandi403 – 405Combined sources3
Helixi410 – 424Combined sources15
Beta strandi447 – 456Combined sources10
Beta strandi470 – 474Combined sources5
Helixi475 – 480Combined sources6
Helixi485 – 495Combined sources11

3D structure databases

ProteinModelPortaliQ9UIF7
SMRiQ9UIF7
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ9UIF7

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini364 – 495Nudix hydrolasePROSITE-ProRule annotationAdd BLAST132

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi404 – 426Nudix boxAdd BLAST23

Sequence similaritiesi

Belongs to the Nth/MutY family.Curated

Phylogenomic databases

eggNOGiKOG2457 Eukaryota
COG1194 LUCA
GeneTreeiENSGT00510000047220
HOVERGENiHBG052540
InParanoidiQ9UIF7
KOiK03575
PhylomeDBiQ9UIF7
TreeFamiTF328549

Family and domain databases

CDDicd03431 DNA_Glycosylase_C, 1 hit
cd00056 ENDO3c, 1 hit
Gene3Di1.10.1670.10, 2 hits
InterProiView 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
IPR000445 HhH_motif
IPR023170 HTH_base_excis_C
IPR029119 MutY_C
IPR015797 NUDIX_hydrolase-like_dom_sf
IPR000086 NUDIX_hydrolase_dom
PfamiView protein in Pfam
PF00633 HHH, 1 hit
PF00730 HhH-GPD, 1 hit
PF14815 NUDIX_4, 1 hit
SMARTiView protein in SMART
SM00478 ENDO3c, 1 hit
SM00525 FES, 1 hit
SUPFAMiSSF48150 SSF48150, 1 hit
SSF55811 SSF55811, 1 hit
PROSITEiView protein in PROSITE
PS00764 ENDONUCLEASE_III_1, 1 hit
PS01155 ENDONUCLEASE_III_2, 1 hit
PS51462 NUDIX, 1 hit

Sequences (6)i

Sequence statusi: Complete.

This entry describes 6 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform Alpha-1 (identifier: Q9UIF7-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        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
Length:546
Mass (Da):60,069
Last modified:May 1, 2000 - v1
Checksum:i6C79BDB34345DD10
GO
Isoform Alpha-2 (identifier: Q9UIF7-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     53-62: Missing.

Show »
Length:536
Mass (Da):59,142
Checksum:i09F58E89627B124D
GO
Isoform Alpha-3 (identifier: Q9UIF7-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     53-63: Missing.

Show »
Length:535
Mass (Da):59,071
Checksum:iB035F73FE7E5EC88
GO
Isoform Beta-1 (identifier: Q9UIF7-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-14: Missing.

Show »
Length:532
Mass (Da):58,444
Checksum:i51845EFF75321F12
GO
Isoform Gamma-2 (identifier: Q9UIF7-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-14: Missing.
     53-62: Missing.

Show »
Length:522
Mass (Da):57,517
Checksum:i8E913C90D72DF87E
GO
Isoform Gamma-3 (identifier: Q9UIF7-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-14: Missing.
     53-63: Missing.

Show »
Length:521
Mass (Da):57,446
Checksum:i7487EE8AB10FDF6E
GO

Sequence cautioni

The sequence BAA89339 differs from that shown. Probable cloning artifact.Curated
The sequence BAA89339 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAA89345 differs from that shown. Probable cloning artifact.Curated
The sequence BAA89345 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07764018P → 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:rs79777494EnsemblClinVar.1
Natural variantiVAR_01887222V → M Polymorphism; does not affect function in DNA repair. 6 PublicationsCorresponds to variant dbSNP:rs3219484EnsemblClinVar.1
Natural variantiVAR_07764125G → D Polymorphism; does not affect function in DNA repair. 1 PublicationCorresponds to variant dbSNP:rs75321043EnsemblClinVar.1
Natural variantiVAR_07764272V → E Polymorphism; does not affect DNA glycosylase activity. 1 Publication1
Natural variantiVAR_077643100W → R Found in sporadic hepatocellular carcinoma; unknown pathological significance; loss of function in DNA repair. 1 PublicationCorresponds to variant dbSNP:rs1140507Ensembl.1
Natural variantiVAR_077644102D → 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_077645121D → G Polymorphism; does not affect DNA glycosylase activity; does not affect function in DNA repair. 1 Publication1
Natural variantiVAR_026045125Y → H in FAP2; decreased function in DNA repair. 2 Publications1
Natural variantiVAR_026046128W → R in FAP2; loss of function in DNA repair. 2 PublicationsCorresponds to variant dbSNP:rs730881832Ensembl.1
Natural variantiVAR_064938148G → GIW in FAP2; reduced DNA glycosylase activity; decreased DNA binding; loss of function in DNA repair. 3 Publications1
Natural variantiVAR_077646154P → L in FAP2; decreased function in DNA repair. 2 PublicationsCorresponds to variant dbSNP:rs777184451Ensembl.1
Natural variantiVAR_018873176Y → 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_077647177Y → S in FAP2. 1 Publication1
Natural variantiVAR_064939179R → 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_026047179R → H in FAP2; loss of DNA glycosylase activity; loss of function in DNA repair. 4 PublicationsCorresponds to variant dbSNP:rs143353451Ensembl.1
Natural variantiVAR_077648182R → Q in FAP2; loss of function in DNA repair. 2 PublicationsCorresponds to variant dbSNP:rs533899702Ensembl.1
Natural variantiVAR_064940182R → 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_077649186G → E in FAP2; decreased function in DNA repair. 1 PublicationCorresponds to variant dbSNP:rs754155145Ensembl.1
Natural variantiVAR_077650213G → E in FAP2. 1 PublicationCorresponds to variant dbSNP:rs768553551Ensembl.1
Natural variantiVAR_077651220I → 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_077652224A → V Functional polymorphism; decreased function in DNA repair. 1 PublicationCorresponds to variant dbSNP:rs11545695Ensembl.1
Natural variantiVAR_077653231V → M Probable disease-associated mutation 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_077654235N → S in FAP2; loss of DNA glycosylase activity; loss of function in DNA repair. 2 PublicationsCorresponds to variant dbSNP:rs1057517765Ensembl.1
Natural variantiVAR_026048238R → 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_077655242R → C Probable disease-associated mutation found in multiple polyposis cases; decreased function in DNA repair. 1 PublicationCorresponds to variant dbSNP:rs200495564Ensembl.1
Natural variantiVAR_077656242R → H in FAP2; loss of function in DNA repair. 4 PublicationsCorresponds to variant dbSNP:rs140342925Ensembl.1
Natural variantiVAR_077657243V → F Polymorphism; does not affect function. 1 PublicationCorresponds to variant dbSNP:rs587780749Ensembl.1
Natural variantiVAR_077658244R → G Functional polymorphism; reduced DNA glycosylase activity; decreased function in DNA repair. 1 Publication1
Natural variantiVAR_077659271R → W in FAP2; loss of function in DNA repair. 3 PublicationsCorresponds to variant dbSNP:rs769237459Ensembl.1
Natural variantiVAR_077660280M → V in FAP2; reduced DNA glycosylase activity. 2 PublicationsCorresponds to variant dbSNP:rs876659676Ensembl.1
Natural variantiVAR_077661283G → 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_077662287C → W Found in a case of sporadic lung cancer; unknown pathological significance; loss of function in DNA repair. 1 Publication1
Natural variantiVAR_077663292P → L in FAP2; also found in multiple polyposis cases; loss of function in DNA repair. 3 PublicationsCorresponds to variant dbSNP:rs374950566Ensembl.1
Natural variantiVAR_077664306R → 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_077665319S → N Polymorphism; does not affect DNA glycosylase activity; does not affect function in DNA repair. 1 Publication1
Natural variantiVAR_018874335Q → H Polymorphism; does not affect function in DNA repair. 6 PublicationsCorresponds to variant dbSNP:rs3219489Ensembl.1
Natural variantiVAR_077666335Q → 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_048262370A → V Polymorphism; does not affect DNA glycosylase activity. 1 PublicationCorresponds to variant dbSNP:rs35352891Ensembl.1
Natural variantiVAR_077667377P → T in FAP2; decreased function in DNA repair. 1 Publication1
Natural variantiVAR_077668385L → 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_018875393G → D in FAP2; reduced DNA glycosylase activity; decreased DNA binding; decreased function in DNA repair. 12 PublicationsCorresponds to variant dbSNP:rs36053993Ensembl.1
Natural variantiVAR_077669402P → 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_026049402P → S in GASC; sporadic; decreased function in DNA repair. 2 PublicationsCorresponds to variant dbSNP:rs121908382Ensembl.1
Natural variantiVAR_026050411Q → R in GASC; sporadic; unknown pathological significance; does not affect function in DNA repair. 2 PublicationsCorresponds to variant dbSNP:rs121908383Ensembl.1
Natural variantiVAR_077670417L → 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_077671423R → C in FAP2; unknown pathological significance; does not affect function in DNA repair. 3 PublicationsCorresponds to variant dbSNP:rs150792276Ensembl.1
Natural variantiVAR_077672434R → P Found in sporadic colorectal cancer cases; unknown pathological significance; decreased function in DNA repair. 1 Publication1
Natural variantiVAR_077673434R → Q Polymorphism; does not affect function in DNA repair. 1 PublicationCorresponds to variant dbSNP:rs587782120Ensembl.1
Natural variantiVAR_077674470A → D in FAP2; loss of function in DNA repair. 1 PublicationCorresponds to variant dbSNP:rs200844166Ensembl.1
Natural variantiVAR_077675470A → 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_077676474T → M in FAP2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs767747402Ensembl.1
Natural variantiVAR_064941477Missing 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 Publications1
Natural variantiVAR_077677486A → T in FAP2; decreased function in DNA repair. 1 PublicationCorresponds to variant dbSNP:rs587782263Ensembl.1
Natural variantiVAR_077678490V → 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_018876500G → E Functional polymorphism; decreased function in DNA repair. 2 PublicationsCorresponds to variant dbSNP:rs3219494Ensembl.1
Natural variantiVAR_026051512S → F Polymorphism; does not affect DNA glycosylase activity; does not affect function in DNA repair. 4 PublicationsCorresponds to variant dbSNP:rs140118273Ensembl.1
Natural variantiVAR_077679513P → L Polymorphism; does not affect function in DNA repair. 1 PublicationCorresponds to variant dbSNP:rs587778542Ensembl.1
Natural variantiVAR_077680520R → H Polymorphism; does not affect DNA glycosylase activity; does not affect function in DNA repair. 1 PublicationCorresponds to variant dbSNP:rs374655042Ensembl.1
Natural variantiVAR_018877526L → M Polymorphism; does not affect function in DNA repair. 2 PublicationsCorresponds to variant dbSNP:rs3219496Ensembl.1
Natural variantiVAR_018878531R → Q Polymorphism; does not affect function in DNA repair. 2 PublicationsCorresponds to variant dbSNP:rs3219497Ensembl.1
Natural variantiVAR_077681536T → A Polymorphism; does not affect DNA glycosylase activity; does not affect function in DNA repair. 1 PublicationCorresponds to variant dbSNP:rs151196169Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0105481 – 14Missing in isoform Beta-1, isoform Gamma-2 and isoform Gamma-3. 1 PublicationAdd BLAST14
Alternative sequenceiVSP_01055053 – 63Missing in isoform Alpha-3 and isoform Gamma-3. 2 PublicationsAdd BLAST11
Alternative sequenceiVSP_01054953 – 62Missing in isoform Alpha-2 and isoform Gamma-2. 1 Publication10

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U63329 Genomic DNA Translation: AAC50618.1
AB032920 mRNA Translation: BAA89336.1
AB032921 mRNA Translation: BAA89337.1
AB032922 mRNA Translation: BAA89338.1
AB032923 mRNA Translation: BAA89339.1 Sequence problems.
AB032924 mRNA Translation: BAA89340.1
AB032925 mRNA Translation: BAA89341.1
AB032926 mRNA Translation: BAA89342.1
AB032927 mRNA Translation: BAA89343.1
AB032928 mRNA Translation: BAA89344.1
AB032929 mRNA Translation: BAA89345.1 Sequence problems.
HQ205466 Genomic DNA Translation: ADP90937.1
HQ205468 Genomic DNA Translation: ADP90947.1
HQ205469 Genomic DNA Translation: ADP90952.1
HQ205470 Genomic DNA Translation: ADP90957.1
HQ205472 Genomic DNA Translation: ADP90967.1
HQ205473 Genomic DNA Translation: ADP90972.1
HQ205474 Genomic DNA Translation: ADP90977.1
HQ205475 Genomic DNA Translation: ADP90982.1
HQ205476 Genomic DNA Translation: ADP90987.1
HQ205477 Genomic DNA Translation: ADP90992.1
HQ205479 Genomic DNA Translation: ADP91002.1
HQ205480 Genomic DNA Translation: ADP91007.1
HQ205481 Genomic DNA Translation: ADP91012.1
HQ205482 Genomic DNA Translation: ADP91017.1
HQ205483 Genomic DNA Translation: ADP91022.1
HQ205484 Genomic DNA Translation: ADP91027.1
HQ205485 Genomic DNA Translation: ADP91032.1
HQ205486 Genomic DNA Translation: ADP91037.1
HQ205487 Genomic DNA Translation: ADP91042.1
HQ205488 Genomic DNA Translation: ADP91047.1
HQ205489 Genomic DNA Translation: ADP91052.1
HQ205490 Genomic DNA Translation: ADP91057.1
HQ205491 Genomic DNA Translation: ADP91062.1
HQ205492 Genomic DNA Translation: ADP91067.1
HQ205493 Genomic DNA Translation: ADP91072.1
HQ205494 Genomic DNA Translation: ADP91077.1
HQ205495 Genomic DNA Translation: ADP91082.1
HQ205496 Genomic DNA Translation: ADP91087.1
HQ205497 Genomic DNA Translation: ADP91092.1
HQ205498 Genomic DNA Translation: ADP91097.1
HQ205499 Genomic DNA Translation: ADP91102.1
HQ205500 Genomic DNA Translation: ADP91107.1
HQ205501 Genomic DNA Translation: ADP91112.1
HQ205502 Genomic DNA Translation: ADP91117.1
HQ205503 Genomic DNA Translation: ADP91122.1
HQ205505 Genomic DNA Translation: ADP91132.1
AF527839 Genomic DNA Translation: AAM78555.1
AL359540 Genomic DNA No translation available.
CH471059 Genomic DNA Translation: EAX06993.1
CH471059 Genomic DNA Translation: EAX06996.1
CH471059 Genomic DNA Translation: EAX06997.1
BC003178 mRNA Translation: AAH03178.1
CCDSiCCDS41320.1 [Q9UIF7-3]
CCDS41321.1 [Q9UIF7-5]
CCDS41322.1 [Q9UIF7-6]
CCDS520.1 [Q9UIF7-1]
CCDS72776.1 [Q9UIF7-4]
CCDS72777.1 [Q9UIF7-2]
RefSeqiNP_001041636.1, NM_001048171.1 [Q9UIF7-3]
NP_001041637.1, NM_001048172.1 [Q9UIF7-5]
NP_001041638.1, NM_001048173.1 [Q9UIF7-6]
NP_001041639.1, NM_001048174.1 [Q9UIF7-6]
NP_001121897.1, NM_001128425.1
NP_001280119.1, NM_001293190.1 [Q9UIF7-2]
NP_001280120.1, NM_001293191.1 [Q9UIF7-4]
NP_001280121.1, NM_001293192.1
NP_001280124.1, NM_001293195.1 [Q9UIF7-6]
NP_001280125.1, NM_001293196.1
NP_036354.1, NM_012222.2 [Q9UIF7-1]
XP_011539806.1, XM_011541504.2 [Q9UIF7-4]
XP_016856823.1, XM_017001334.1 [Q9UIF7-5]
XP_016856824.1, XM_017001335.1
UniGeneiHs.271353

Genome annotation databases

EnsembliENST00000354383; ENSP00000346354; ENSG00000132781 [Q9UIF7-5]
ENST00000355498; ENSP00000347685; ENSG00000132781 [Q9UIF7-6]
ENST00000372098; ENSP00000361170; ENSG00000132781 [Q9UIF7-1]
ENST00000372104; ENSP00000361176; ENSG00000132781 [Q9UIF7-6]
ENST00000372110; ENSP00000361182; ENSG00000132781 [Q9UIF7-2]
ENST00000372115; ENSP00000361187; ENSG00000132781 [Q9UIF7-3]
ENST00000448481; ENSP00000409718; ENSG00000132781 [Q9UIF7-4]
ENST00000456914; ENSP00000407590; ENSG00000132781 [Q9UIF7-6]
GeneIDi4595
KEGGihsa:4595
UCSCiuc001cnf.4 human [Q9UIF7-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiMUTYH_HUMAN
AccessioniPrimary (citable) accession number: Q9UIF7
Secondary accession number(s): D3DPZ4
, Q15830, Q9UBP2, Q9UBS7, Q9UIF4, Q9UIF5, Q9UIF6
Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 7, 2004
Last sequence update: May 1, 2000
Last modified: July 18, 2018
This is version 174 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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, Complete proteome, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

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