MGME1
entrez
92667
canonical
uniprot
Q9BQP7
canonical
ensembl
ENSG00000125871
resolver
ensp
ENSP00000366933
resolver
ensp
ENSP00000366938
resolver
ensp
ENSP00000366939
resolver
ensp
ENSP00000566035
resolver
ensp
ENSP00000566036
resolver
ensp
ENSP00000566037
resolver
ensp
ENSP00000566039
resolver
ensp
ENSP00000566041
resolver
ensp
ENSP00000566042
resolver
ensp
ENSP00000566043
resolver
ensp
ENSP00000596037
resolver
ensp
ENSP00000596038
resolver
ensp
ENSP00000596039
resolver
ensp
ENSP00000618857
resolver
ensp
ENSP00000618859
resolver
ensp
ENSP00000790530
resolver
ensp
ENSP00000790531
resolver
ensp
ENSP00000796024
resolver
ensp
ENSP00000796025
resolver
enst
ENST00000377704
resolver
enst
ENST00000377709
resolver
enst
ENST00000377710
resolver
enst
ENST00000895976
resolver
enst
ENST00000895977
resolver
enst
ENST00000895980
resolver
enst
ENST00000895983
resolver
enst
ENST00000895984
resolver
enst
ENST00000925978
resolver
enst
ENST00000925979
resolver
enst
ENST00000925980
resolver
enst
ENST00000948800
resolver
genesymbol
MGME1
resolver
genesymbol_syn
C20orf72
resolver
genesymbol_syn
DDK1
resolver
hgnc
HGNC:16205
resolver
uniprot
B2RDG5
resolver
uniprot
D3DW29
resolver
uniprot
Q5QPE7
resolver
uniprot
Q5QPE8
resolver
uniprot
Q96SW3
resolver
uniprot_entry
MGME1_HUMAN
resolver
uniprot_entry
Q5QPE7_HUMAN
resolver
uniprot_entry
Q5QPE8_HUMAN
resolver
uniprot_sec
B2RDG5
resolver
uniprot_sec
D3DW29
resolver
uniprot_sec
Q96SW3
resolver
amino_acid_sequence
MKMKLFQTICRQLRSSKFSVESAALVAFSTSSYSCGRKKKVNPYEEVDQEKYSNLVQSVLSSRGVAQTPGSVEEDALLCGPVSKHKLPNQGEDRRVPQNWFPIFNPERSDKPNASDPSVPLKIPLQRNVIPSVTRVLQQTMTKQQVFLLERWKQRMILELGEDGFKEYTSNVFLQGKRFHEALESILSPQETLKERDENLLKSGYIESVQHILKDVSGVRALESAVQHETLNYIGLLDCVAEYQGKLCVIDWKTSEKPKPFIQSTFDNPLQVVAYMGAMNHDTNYSFQVQCGLIVVAYKDGSPAHPHFMDAELCSQYWTKWLLRLEEYTEKKKNQNIQKPEYSE
uniprot
proteins
disease_involvement
DISEASE: Mitochondrial DNA depletion syndrome 11 (MTDPS11) [MIM:615084]: An autosomal recessive mitochondrial disorder characterized by onset in childhood or adulthood of progressive external ophthalmoplegia, muscle weakness and atrophy, exercise intolerance, and respiratory insufficiency due to muscle weakness. More variable features include spinal deformity, emaciation, and cardiac abnormalities. Skeletal muscle biopsies show deletion and depletion of mitochondrial DNA (mtDNA) with variable defects in respiratory chain enzyme activities. {ECO:0000269|PubMed:23313956}. Note=The disease may be caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.1.-.-
uniprot
proteins
function
FUNCTION: Metal-dependent single-stranded DNA (ssDNA) exonuclease involved in mitochondrial genome maintenance. Has preference for 5'-3' exonuclease activity but is also capable of endonuclease 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. Specifically binds 5-hydroxymethylcytosine (5hmC)-containing DNA in stem cells. {ECO:0000255|HAMAP-Rule:MF_03030, ECO:0000269|PubMed:23313956, ECO:0000269|PubMed:23358826}.
uniprot
proteins
mass_dalton
39421
uniprot
proteins
mutagenesis
MUTAGEN 251; /note="D->A: Abolishes catalytic activity."; /evidence="ECO:0000269|PubMed:23358826"; MUTAGEN 253; /note="K->A: Abolishes catalytic activity."; /evidence="ECO:0000269|PubMed:23313956, ECO:0000269|PubMed:23358826"; MUTAGEN 253; /note="K->A: Abolishes exonuclease activity."; /evidence="ECO:0000269|PubMed:23313956, ECO:0000269|PubMed:23358826
uniprot
proteins
protein_family
MGME1 family
uniprot
proteins
pubmed
11780052
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23313956
uniprot
proteins
pubmed
23358826
uniprot
proteins
pubmed
25944712
uniprot
proteins
sequence_length
344
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000255|HAMAP-Rule:MF_03030, ECO:0000269|PubMed:23313956, ECO:0000269|PubMed:23358826}.
uniprot
proteins