Show pageOld revisionsBacklinksFold/unfold allBack to top This page is read only. You can view the source, but not change it. Ask your administrator if you think this is wrong. ======= MGME1 ======= == Gene Information == * **<color #00a2e8>Official Symbol</color>**: MGME1 * **<color #00a2e8>Official Name</color>**: mitochondrial genome maintenance exonuclease 1 * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=92667|92667]] * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q9BQP7|Q9BQP7]] * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=MGME1&organism=9606|BioGRID]] * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20MGME1|Open PubMed]] * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/615076|Open OMIM]] == Function Summary == * **<color #00a2e8>Entrez Summary</color>**: 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 have been associated with mitochondrial DNA depletion syndrome-11. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2015]. * **<color #00a2e8>UniProt Summary</color>**: 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. Specifically binds 5-hydroxymethylcytosine (5hmC)-containing DNA in stem cells. {ECO:0000255|HAMAP- Rule:MF_03030, ECO:0000269|PubMed:23313956, ECO:0000269|PubMed:23358826}. <button type='primary' size='sm' modal='Pfam_Domains'>Pfam Domains</button> <button type='primary' size='sm' modal='GO_terms'>GO Terms</button> <modal id='Pfam_Domains' size='lg' title='Pfam Domains'> |PDDEXK 1| </modal> <modal id='GO_terms' size='lg' title='GO Terms'> |single-stranded DNA exodeoxyribonuclease activity| |mitochondrial DNA repair| |mitochondrial DNA metabolic process| |mitochondrial DNA replication| |mitochondrial genome maintenance| |DNA-dependent DNA replication| |DNA replication| |nucleic acid phosphodiester bond hydrolysis| |mitochondrion organization| |DNA repair| |DNA metabolic process| |cellular response to DNA damage stimulus| |mitochondrion| |cellular response to stress| |cellular macromolecule biosynthetic process| |macromolecule biosynthetic process| </modal> \\ === CRISPR Data === <button type='primary' size='small' modal='Compound_Hit'>Compound Hit</button> <button type='primary' size='small' modal='Most_Correlated_Genes'>Most Correlated Genes in Chemogenomics</button> <button type='primary' size='small' modal='Essential_Avana'>Tissues where Essential in the Avana Dataset (DepMap 20Q1)</button> <modal id='Compound_Hit' size='lg' title='Compound Hit'> ^Screen^Score^ |[[:results:exp521|Salinomycin 3.5μM R08 exp521]]|-1.72| |[[:results:exp245|UM0011500 5μM R05 exp245]]|1.79| |[[:results:exp191|Hypoxia 5%O2 R04 exp191]]|2.65| </modal> <modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'> ^Gene^Correlation^ |[[:human genes:p:polr2j3|POLR2J3]]|0.531| |[[:human genes:s:slc25a36|SLC25A36]]|0.442| |[[:human genes:g:golga6l1|GOLGA6L1]]|0.435| |[[:human genes:m:mrs2|MRS2]]|0.408| |[[:human genes:n:nme6|NME6]]|0.405| </modal> <modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'> Global Fraction of Cell Lines Where Essential: 0/739 ^Tissue^Fraction Of Cell Lines Where Essential^ |1290807.0|0/1| |909776.0|0/1| |bile duct|0/28| |blood|0/28| |bone|0/26| |breast|0/33| |central nervous system|0/56| |cervix|0/4| |colorectal|0/17| |esophagus|0/13| |fibroblast|0/1| |gastric|0/16| |kidney|0/21| |liver|0/20| |lung|0/75| |lymphocyte|0/16| |ovary|0/26| |pancreas|0/24| |peripheral nervous system|0/16| |plasma cell|0/15| |prostate|0/1| |skin|0/24| |soft tissue|0/9| |thyroid|0/2| |upper aerodigestive|0/22| |urinary tract|0/29| |uterus|0/5| </modal> == Essentiality in NALM6 == * **<color #00a2e8>Essentiality Rank</color>**: 19061 * **<color #00a2e8>Expression level (log2 read counts)</color>**: 5.36 <button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button> <modal id='Dist_expr' size='lg' title='MGME1 Expression in NALM6 Cells: 5.36'> {{:chemogenomics:nalm6 dist.png?nolink |}} </modal> Last modified: 2025/12/10 20:19by 127.0.0.1