• Gene id: 4595

Gene Summary

• Gene Symbol: MUTYH   Gene   UCSC   Ensembl
• Aliases: MYH
• Gene name: mutY DNA glycosylase
• Alternate names: adenine DNA glycosylase, A/G-specific adenine DNA glycosylase, mutY homolog, mutY-like protein,
• Gene location: 1p34.1 (45340469: 45329241)     Exons: 22     NC_000001.11
• Gene summary(Entrez): This gene encodes a DNA glycosylase involved in oxidative DNA damage repair. The enzyme excises adenine bases from the DNA backbone at sites where adenine is inappropriately paired with guanine, cytosine, or 8-oxo-7,8-dihydroguanine, a major oxidatively d
• OMIM: 604933

SNPs

rs72609647

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000024.10   g.12678428T>G
NC_000024.9   g.14790357T>G|SEQ=[T/G]|GENE=TTTY15

Protein Summary

• Protein general information: Q9UIF7  
  • Name: Adenine DNA glycosylase (EC 3.2.2.31) (MutY homolog) (hMYH)
  • Length: 546  
  • Mass: 60069
• Sequence:

  MTPLVSRLSRLWAIMRKPRAAVGSGHRKQAASQEGRQKHAKNNSQAKPSACDGMIAECPGAPAGLARQPEEVVLQ
  ASVSSYHLFRDVAEVTAFRGSLLSWYDQEKRDLPWRRRAEDEMDLDRRAYAVWVSEVMLQQTQVATVINYYTGWM
  QKWPTLQDLASASLEEVNQLWAGLGYYSRGRRLQEGARKVVEELGGHMPRTAETLQQLLPGVGRYTAGAIASIAF
  GQATGVVDGNVARVLCRVRAIGADPSSTLVSQQLWGLAQQLVDPARPGDFNQAAMELGATVCTPQRPLCSQCPVE
  SLCRARQRVEQEQLLASGSLSGSPDVEECAPNTGQCHLCLPPSEPWDQTLGVVNFPRKASRKPPREESSATCVLE
  QPGALGAQILLVQRPNSGLLAGLWEFPSVTWEPSEQLQRKALLQELQRWAGPLPATHLRHLGEVVHTFSHIKLTY
  QVYGLALEGQTPVTTVPPGARWLTQEEFHTAAVSTAMKKVFRVYQGQQPGTCMGSKRSQVSSPCSRKKPRMGQQV
  LDNFFRSHISTDAHSLNSAAQ

• Structural information:
  • Protein Domains: (364..49-)
    (/note="Nudix-hydrolase)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00794"-)
  • Interpro: IPR011257  IPR004036  IPR003651  IPR004035  IPR003265   IPR000445  IPR023170  IPR029119  IPR015797  IPR000086  
  • Prosite: PS00764 PS01155 PS51462
  • CDD: cd03431 cd00056
  • PDB: 1X51 3N5N
  • PDBsum: 1X51 3N5N
  • DIP: 41972
  • STRING: ENSP00000361170
• Other Databases: GeneCards:  MUTYH  Malacards:  MUTYH

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0032405	MutLalpha complex binding	IDA	NOT|molecular function
GO:0032407	MutSalpha complex binding	IDA	molecular function
GO:0032408	MutSbeta complex binding	IDA	NOT|molecular function
GO:0032406	MutLbeta complex binding	IDA	NOT|molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0035485	adenine/guanine mispair binding	IBA	molecular function
GO:0034039	8-oxo-7,8-dihydroguanine DNA N-glycosylase activity	IBA	molecular function
GO:0032357	oxidized purine DNA binding	IBA	molecular function
GO:0006298	mismatch repair	IBA	biological process
GO:0006284	base-excision repair	IBA	biological process
GO:0006281	DNA repair	IBA	biological process
GO:0000701	purine-specific mismatch base pair DNA N-glycosylase activity	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0000701	purine-specific mismatch base pair DNA N-glycosylase activity	IMP	molecular function
GO:0006281	DNA repair	IEA	biological process
GO:0006284	base-excision repair	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0051539	4 iron, 4 sulfur cluster binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0003824	catalytic activity	IEA	molecular function
GO:0008152	metabolic process	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0006281	DNA repair	IEA	biological process
GO:0051539	4 iron, 4 sulfur cluster binding	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0051536	iron-sulfur cluster binding	IEA	molecular function
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0016798	hydrolase activity, acting on glycosyl bonds	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0005634	nucleus	TAS	cellular component
GO:0006281	DNA repair	TAS	biological process
GO:0006298	mismatch repair	TAS	biological process
GO:0045007	depurination	TAS	biological process
GO:0045007	depurination	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0019104	DNA N-glycosylase activity	TAS	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa03410	Base excision repair

Diseases

Associated diseases	References
Familial adenomatous polyposis	KEGG:H01025
Familial adenomatous polyposis	KEGG:H01025
Familial adenomatous polyposis	PMID:11818965
stomach carcinoma	PMID:15273732
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)