UniProt Accession

 MGME1_HUMAN; Q9BQP7; B2RDG5; D3DW29; Q96SW3 

Genbank Protein ID

 AK027503; AK315532; AL121585; CH471133; CH471133; BC016869 

Genbank Nucleotide ID

 BAB55160.1; BAG37912.1; CAC35072.1; EAX10260.1; EAX10261.1; AAH16869.1 

Protein Name

 Mitochondrial genome maintenance exonuclease 1 

Protein Synonyms/Alias

  

Gene Name

 MGME1 

Gene Synonyms/Alias

 C20orf72; DDK1 

Created Date

 July 27, 2013 

Organism

 Homo sapiens (Human) 

NCBI Taxa ID

 9606 

Lysine Modification

Position	Peptide	Type	References
214	ESVQHILKDVSGVRA	ubiquitination	[1]
339	KKNQNIQKPEYSE**	ubiquitination	[1, 2]

Reference

 [1] Landscape of the PARKIN-dependent ubiquitylome in response to mitochondrial depolarization.
 Sarraf SA, Raman M, Guarani-Pereira V, Sowa ME, Huttlin EL, Gygi SP, Harper JW.
 Nature. 2013 Apr 18;496(7445):372-6. [PMID: 23503661]
 [2] Systematic and quantitative assessment of the ubiquitin-modified proteome.
 Kim W, Bennett EJ, Huttlin EL, Guo A, Li J, Possemato A, Sowa ME, Rad R, Rush J, Comb MJ, Harper JW, Gygi SP.
 Mol Cell. 2011 Oct 21;44(2):325-40. [PMID: 21906983] 

Functional Description

 Metal-dependent single-stranded DNA (ssDNA) exonuclease involved in mitochondrial genome maintenance. Has preference for 5'-3' exonuclease activity but is also capable of endoduclease activity on linear substrates. Necessary for maintenance of proper 7S DNA levels. Probably involved in mitochondrial DNA (mtDNA) repair, possibly via the processing of displaced DNA containing Okazaki fragments during RNA-primed DNA synthesis on the lagging strand or via processing of DNA flaps during long-patch base excision repair. 

Sequence Annotation

 ACT_SITE 238 238
 ACT_SITE 251 251
 ACT_SITE 253 253
 MOD_RES 343 343 Phosphoserine.  

Keyword

 Complete proteome; Disease mutation; DNA damage; DNA repair; Exonuclease; Hydrolase; Mitochondrion; Nuclease; Phosphoprotein; Polymorphism; Progressive external ophthalmoplegia; Reference proteome; Transit peptide. 

Sequence Source

 UniProt (SWISSPROT/TrEMBL); GenBank; EMBL 

Protein Length

 344 AA 

Protein Sequence

Gene Ontology

 GO:0005739; C:mitochondrion; IDA:UniProtKB.
 GO:0008297; F:single-stranded DNA specific exodeoxyribonuclease activity; IDA:UniProtKB.
 GO:0043504; P:mitochondrial DNA repair; IMP:UniProtKB. 

Interpro

 IPR026970; UPF_C20orf72. 

Pfam

  

SMART

  

PROSITE

  

PRINTS