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Protein

Adenine DNA glycosylase

Gene

MUTYH

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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.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

GO - Biological processi

  • depurination Source: Reactome
  • DNA repair Source: ProtInc
  • mismatch repair Source: ProtInc
Complete GO annotation...

Keywords - Molecular functioni

Glycosidase, Hydrolase

Keywords - Biological processi

DNA damage, DNA repair

Keywords - Ligandi

4Fe-4S, Iron, Iron-sulfur, Metal-binding

Enzyme and pathway databases

BioCyciZFISH:ENSG00000132781-MONOMER.
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.-)
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

HGNCiHGNC:7527. MUTYH.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Familial adenomatous polyposis 2 (FAP2)6 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_026045125Y → H in FAP2. 1 Publication1
Natural variantiVAR_026046128W → R in FAP2. 1 PublicationCorresponds to variant rs730881832dbSNPEnsembl.1
Natural variantiVAR_064938148G → IW in FAP2; dysfunctional in base excision repair assay. 1
Natural variantiVAR_018873176Y → C in FAP2; dysfunctional in base excision repair assay. 5 PublicationsCorresponds to variant rs34612342dbSNPEnsembl.1
Natural variantiVAR_064939179R → C in FAP2. 1 PublicationCorresponds to variant rs747993448dbSNPEnsembl.1
Natural variantiVAR_026047179R → H in FAP2. 1 PublicationCorresponds to variant rs143353451dbSNPEnsembl.1
Natural variantiVAR_064940182R → W in FAP2; dysfunctional in base excision repair assay. 2 PublicationsCorresponds to variant rs750592289dbSNPEnsembl.1
Natural variantiVAR_026048238R → W in FAP2. 1 PublicationCorresponds to variant rs34126013dbSNPEnsembl.1
Natural variantiVAR_018875393G → D in FAP2; shows a glycosylase activity very similar to the wild-type protein. 5 PublicationsCorresponds to variant rs36053993dbSNPEnsembl.1
Natural variantiVAR_064941477Missing in FAP2; dysfunctional in base excision repair assay. 1
Gastric cancer (GASC)1 Publication
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. 1 PublicationCorresponds to variant rs121908382dbSNPEnsembl.1
Natural variantiVAR_026050411Q → R in GASC; sporadic. 1 PublicationCorresponds to variant rs121908383dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation, Tumor suppressor

Organism-specific databases

DisGeNETi4595.
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

PaxDbiQ9UIF7.
PeptideAtlasiQ9UIF7.
PRIDEiQ9UIF7.

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

GO - Molecular functioni

  • MutSalpha complex binding Source: HGNC

Protein-protein interaction databases

BioGridi110681. 10 interactors.
DIPiDIP-41972N.
IntActiQ9UIF7. 12 interactors.
MINTiMINT-151684.
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

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1X51NMR-A356-497[»]
3N5NX-ray2.30X/Y76-362[»]
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
Contains 1 nudix hydrolase domain.PROSITE-ProRule annotation

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. 1 hit.
1.10.340.30. 1 hit.
3.90.79.10. 1 hit.
InterProiIPR011257. DNA_glycosylase.
IPR004036. Endonuclease-III-like_CS2.
IPR004035. Endouclease-III_FeS-bd_BS.
IPR003651. Endouclease3_FeS-loop_motif.
IPR003265. HhH-GPD_domain.
IPR000445. HhH_motif.
IPR023170. HTH_base_excis_C.
IPR029119. MutY_C.
IPR000086. NUDIX_hydrolase_dom.
IPR015797. NUDIX_hydrolase_dom-like.
[Graphical view]
PfamiPF00633. HHH. 1 hit.
PF00730. HhH-GPD. 1 hit.
PF14815. NUDIX_4. 1 hit.
[Graphical view]
SMARTiSM00478. ENDO3c. 1 hit.
SM00525. FES. 1 hit.
[Graphical view]
SUPFAMiSSF48150. SSF48150. 1 hit.
SSF55811. SSF55811. 1 hit.
PROSITEiPS00764. ENDONUCLEASE_III_1. 1 hit.
PS01155. ENDONUCLEASE_III_2. 1 hit.
PS51462. NUDIX. 1 hit.
[Graphical view]

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_01887222V → M.2 PublicationsCorresponds to variant rs3219484dbSNPEnsembl.1
Natural variantiVAR_026045125Y → H in FAP2. 1 Publication1
Natural variantiVAR_026046128W → R in FAP2. 1 PublicationCorresponds to variant rs730881832dbSNPEnsembl.1
Natural variantiVAR_064938148G → IW in FAP2; dysfunctional in base excision repair assay. 1
Natural variantiVAR_018873176Y → C in FAP2; dysfunctional in base excision repair assay. 5 PublicationsCorresponds to variant rs34612342dbSNPEnsembl.1
Natural variantiVAR_064939179R → C in FAP2. 1 PublicationCorresponds to variant rs747993448dbSNPEnsembl.1
Natural variantiVAR_026047179R → H in FAP2. 1 PublicationCorresponds to variant rs143353451dbSNPEnsembl.1
Natural variantiVAR_064940182R → W in FAP2; dysfunctional in base excision repair assay. 2 PublicationsCorresponds to variant rs750592289dbSNPEnsembl.1
Natural variantiVAR_026048238R → W in FAP2. 1 PublicationCorresponds to variant rs34126013dbSNPEnsembl.1
Natural variantiVAR_018874335Q → H.2 PublicationsCorresponds to variant rs3219489dbSNPEnsembl.1
Natural variantiVAR_048262370A → V.Corresponds to variant rs35352891dbSNPEnsembl.1
Natural variantiVAR_018875393G → D in FAP2; shows a glycosylase activity very similar to the wild-type protein. 5 PublicationsCorresponds to variant rs36053993dbSNPEnsembl.1
Natural variantiVAR_026049402P → S in GASC; sporadic. 1 PublicationCorresponds to variant rs121908382dbSNPEnsembl.1
Natural variantiVAR_026050411Q → R in GASC; sporadic. 1 PublicationCorresponds to variant rs121908383dbSNPEnsembl.1
Natural variantiVAR_064941477Missing in FAP2; dysfunctional in base excision repair assay. 1
Natural variantiVAR_018876500G → E.1 PublicationCorresponds to variant rs3219494dbSNPEnsembl.1
Natural variantiVAR_026051512S → F.1 PublicationCorresponds to variant rs140118273dbSNPEnsembl.1
Natural variantiVAR_018877526L → M.1 PublicationCorresponds to variant rs3219496dbSNPEnsembl.1
Natural variantiVAR_018878531R → Q.1 PublicationCorresponds to variant rs3219497dbSNPEnsembl.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. Translation: CAI21713.1.
AL359540 Genomic DNA. Translation: CAI21714.1.
AL359540 Genomic DNA. Translation: CAI21718.1.
AL359540 Genomic DNA. Translation: CAI21719.1.
AL359540 Genomic DNA. Translation: CAI21720.1.
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

Cross-referencesi

Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology
NIEHS-SNPs

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. Translation: CAI21713.1.
AL359540 Genomic DNA. Translation: CAI21714.1.
AL359540 Genomic DNA. Translation: CAI21718.1.
AL359540 Genomic DNA. Translation: CAI21719.1.
AL359540 Genomic DNA. Translation: CAI21720.1.
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.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1X51NMR-A356-497[»]
3N5NX-ray2.30X/Y76-362[»]
ProteinModelPortaliQ9UIF7.
SMRiQ9UIF7.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi110681. 10 interactors.
DIPiDIP-41972N.
IntActiQ9UIF7. 12 interactors.
MINTiMINT-151684.
STRINGi9606.ENSP00000361170.

PTM databases

iPTMnetiQ9UIF7.
PhosphoSitePlusiQ9UIF7.

Polymorphism and mutation databases

BioMutaiMUTYH.
DMDMi48428272.

Proteomic databases

PaxDbiQ9UIF7.
PeptideAtlasiQ9UIF7.
PRIDEiQ9UIF7.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

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]

Organism-specific databases

CTDi4595.
DisGeNETi4595.
GeneCardsiMUTYH.
GeneReviewsiMUTYH.
HGNCiHGNC:7527. MUTYH.
HPAiHPA008732.
MalaCardsiMUTYH.
MIMi604933. gene.
608456. phenotype.
613659. phenotype.
neXtProtiNX_Q9UIF7.
OpenTargetsiENSG00000132781.
Orphaneti26106. Familial gastric cancer.
247798. MUTYH-related attenuated familial adenomatous polyposis.
PharmGKBiPA31328.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2457. Eukaryota.
COG1194. LUCA.
GeneTreeiENSGT00510000047220.
HOVERGENiHBG052540.
InParanoidiQ9UIF7.
KOiK03575.
PhylomeDBiQ9UIF7.
TreeFamiTF328549.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000132781-MONOMER.
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.

Miscellaneous databases

EvolutionaryTraceiQ9UIF7.
GeneWikiiMUTYH.
GenomeRNAii4595.
PROiQ9UIF7.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000132781.
CleanExiHS_MUTYH.
ExpressionAtlasiQ9UIF7. baseline and differential.
GenevisibleiQ9UIF7. HS.

Family and domain databases

CDDicd03431. DNA_Glycosylase_C. 1 hit.
cd00056. ENDO3c. 1 hit.
Gene3Di1.10.1670.10. 1 hit.
1.10.340.30. 1 hit.
3.90.79.10. 1 hit.
InterProiIPR011257. DNA_glycosylase.
IPR004036. Endonuclease-III-like_CS2.
IPR004035. Endouclease-III_FeS-bd_BS.
IPR003651. Endouclease3_FeS-loop_motif.
IPR003265. HhH-GPD_domain.
IPR000445. HhH_motif.
IPR023170. HTH_base_excis_C.
IPR029119. MutY_C.
IPR000086. NUDIX_hydrolase_dom.
IPR015797. NUDIX_hydrolase_dom-like.
[Graphical view]
PfamiPF00633. HHH. 1 hit.
PF00730. HhH-GPD. 1 hit.
PF14815. NUDIX_4. 1 hit.
[Graphical view]
SMARTiSM00478. ENDO3c. 1 hit.
SM00525. FES. 1 hit.
[Graphical view]
SUPFAMiSSF48150. SSF48150. 1 hit.
SSF55811. SSF55811. 1 hit.
PROSITEiPS00764. ENDONUCLEASE_III_1. 1 hit.
PS01155. ENDONUCLEASE_III_2. 1 hit.
PS51462. NUDIX. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiMUTYH_HUMAN
AccessioniPrimary (citable) accession number: Q9UIF7
Secondary accession number(s): D3DPZ4
, Q15830, Q9UBP2, Q9UBS7, Q9UIF4, Q9UIF5, Q9UIF6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: June 7, 2004
Last sequence update: May 1, 2000
Last modified: November 2, 2016
This is version 160 of the entry and version 1 of the sequence. [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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.