• Gene id: 92667

Gene Summary

• Gene Symbol: MGME1   Gene   UCSC   Ensembl
• Aliases: C20orf72, DDK1, MTDPS11, bA504H3.4
• Gene name: mitochondrial genome maintenance exonuclease 1
• Alternate names: mitochondrial genome maintenance exonuclease 1,
• Gene location: 20p11.23 (17968593: 17991121)     Exons: 8     NC_000020.11
• Gene summary(Entrez): The protein encoded by this gene is a nuclear-encoded mitochondrial protein necessary for the maintenance of mitochondrial genome synthesis. The encoded protein is a RecB-type exonuclease and primarily cleaves single-stranded DNA. Defects in this gene hav
• OMIM: 615076

Protein Summary

• Protein general information: Q9BQP7  
  • Name: Mitochondrial genome maintenance exonuclease 1 (EC 3.1. . )
  • Length: 344  
  • Mass: 39421
• Sequence:

  MKMKLFQTICRQLRSSKFSVESAALVAFSTSSYSCGRKKKVNPYEEVDQEKYSNLVQSVLSSRGVAQTPGSVEED
  ALLCGPVSKHKLPNQGEDRRVPQNWFPIFNPERSDKPNASDPSVPLKIPLQRNVIPSVTRVLQQTMTKQQVFLLE
  RWKQRMILELGEDGFKEYTSNVFLQGKRFHEALESILSPQETLKERDENLLKSGYIESVQHILKDVSGVRALESA
  VQHETLNYIGLLDCVAEYQGKLCVIDWKTSEKPKPFIQSTFDNPLQVVAYMGAMNHDTNYSFQVQCGLIVVAYKD
  GSPAHPHFMDAELCSQYWTKWLLRLEEYTEKKKNQNIQKPEYSE

• Structural information:
  • Interpro: IPR026970  IPR038726  IPR011335  
  • PDB: 5ZYT 5ZYU 5ZYV 5ZYW
  • PDBsum: 5ZYT 5ZYU 5ZYV 5ZYW
  • STRING: ENSP00000366939
• Other Databases: GeneCards:  MGME1  Malacards:  MGME1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0008297	single-stranded DNA exodeoxyribonuclease activity	IBA	molecular function
GO:0005739	mitochondrion	IBA	cellular component
GO:0006264	mitochondrial DNA replication	IBA	biological process
GO:0008297	single-stranded DNA exodeoxyribonuclease activity	IDA	molecular function
GO:0005739	mitochondrion	IDA	cellular component
GO:0043504	mitochondrial DNA repair	TAS	biological process
GO:0000002	mitochondrial genome maintenance	IMP	biological process
GO:0008297	single-stranded DNA exodeoxyribonuclease activity	IEA	molecular function
GO:0043504	mitochondrial DNA repair	IEA	biological process
GO:0006281	DNA repair	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0004518	nuclease activity	IEA	molecular function
GO:0004527	exonuclease activity	IEA	molecular function
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0043504	mitochondrial DNA repair	IEA	biological process
GO:0008297	single-stranded DNA exodeoxyribonuclease activity	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0000002	mitochondrial genome maintenance	IEA	biological process
GO:0090305	nucleic acid phosphodiester bond hydrolysis	IEA	biological process
GO:0090305	nucleic acid phosphodiester bond hydrolysis	IEA	biological process
GO:0006264	mitochondrial DNA replication	IMP	biological process

Diseases

Associated diseases	References
Mitochondrial DNA depletion syndrome	KEGG:H00469
Mitochondrial DNA depletion syndrome	KEGG:H00469
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)