Property Summary

NCBI Gene PubMed Count 237
Grant Count 64
R01 Count 25
Funding $11,374,959.76
PubMed Score 388.98
PubTator Score 458.73

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (5)

Synonym

Accession P54098 Q8NFM2 Q92515
Symbols PEO
MDP1
SCAE
MIRAS
POLG1
POLGA
SANDO
MTDPS4A
MTDPS4B

Gene

PDB

3IKM   4ZTU   4ZTZ   5C51   5C52   5C53  

 GWAS Trait (1)

Gene RIF (220)

PMID Text
26755490 Herein we report a patient with a POLG gene W748S homozygous mutation and characteristic lesions in the thalamus, cerebellum and inferior olivary nucleus seen on magnetic resonance imaging.
26735972 The variable and overlapping clinical and neuropathological phenotypes and downstream molecular defects caused by the A467T mutation.
26468652 altered genetic and epigenetic regulation of POLG1 in human cancers and suggest a role for POLG1 germline variants in promoting tumorigenic properties.
26446790 The stimulatory effect of mtSSB on Pol gamma on these ssDNA templates is not species-specific.
26335356 Data suggest that methylation of mitochondrial DNA in exon 2 of POLGA is instrumental in regulation of DNA replication in pluripotent stem cells, in embryonic development, and in tumorigenesis. [REVIEW]
26317126 CAG repeat polymorphism in the mitochondrial DNA polymerase gamma gene (POLG) does not appear to be associated with colorectal cancer
26104464 This study describe the epilepsy syndrome in seven patients with POLG mutations.
26095671 POLG's 3'-5' exonuclease proofreading activity is required for the creation of ligatable ends during mtDNA replication.
26077851 Familial analysis indicated causal relationship of POLG variants with mitochondrial disease, consistent with autosomal recessive inheritance.
26056153 Crystal structure of POLG1 in complex with mitochondrial DNA
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AA Sequence

MSRLLWRKVAGATVGPGPVPAPGRWVSSSVPASDPSDGQRRRQQQQQQQQQQQQQPQQPQVLSSEGGQLR      1 - 70
HNPLDIQMLSRGLHEQIFGQGGEMPGEAAVRRSVEHLQKHGLWGQPAVPLPDVELRLPPLYGDNLDQHFR     71 - 140
LLAQKQSLPYLEAANLLLQAQLPPKPPAWAWAEGWTRYGPEGEAVPVAIPEERALVFDVEVCLAEGTCPT    141 - 210
LAVAISPSAWYSWCSQRLVEERYSWTSQLSPADLIPLEVPTGASSPTQRDWQEQLVVGHNVSFDRAHIRE    211 - 280
QYLIQGSRMRFLDTMSMHMAISGLSSFQRSLWIAAKQGKHKVQPPTKQGQKSQRKARRGPAISSWDWLDI    281 - 350
SSVNSLAEVHRLYVGGPPLEKEPRELFVKGTMKDIRENFQDLMQYCAQDVWATHEVFQQQLPLFLERCPH    351 - 420
PVTLAGMLEMGVSYLPVNQNWERYLAEAQGTYEELQREMKKSLMDLANDACQLLSGERYKEDPWLWDLEW    421 - 490
DLQEFKQKKAKKVKKEPATASKLPIEGAGAPGDPMDQEDLGPCSEEEEFQQDVMARACLQKLKGTTELLP    491 - 560
KRPQHLPGHPGWYRKLCPRLDDPAWTPGPSLLSLQMRVTPKLMALTWDGFPLHYSERHGWGYLVPGRRDN    561 - 630
LAKLPTGTTLESAGVVCPYRAIESLYRKHCLEQGKQQLMPQEAGLAEEFLLTDNSAIWQTVEELDYLEVE    631 - 700
AEAKMENLRAAVPGQPLALTARGGPKDTQPSYHHGNGPYNDVDIPGCWFFKLPHKDGNSCNVGSPFAKDF    701 - 770
LPKMEDGTLQAGPGGASGPRALEINKMISFWRNAHKRISSQMVVWLPRSALPRAVIRHPDYDEEGLYGAI    771 - 840
LPQVVTAGTITRRAVEPTWLTASNARPDRVGSELKAMVQAPPGYTLVGADVDSQELWIAAVLGDAHFAGM    841 - 910
HGCTAFGWMTLQGRKSRGTDLHSKTATTVGISREHAKIFNYGRIYGAGQPFAERLLMQFNHRLTQQEAAE    911 - 980
KAQQMYAATKGLRWYRLSDEGEWLVRELNLPVDRTEGGWISLQDLRKVQRETARKSQWKKWEVVAERAWK    981 - 1050
GGTESEMFNKLESIATSDIPRTPVLGCCISRALEPSAVQEEFMTSRVNWVVQSSAVDYLHLMLVAMKWLF   1051 - 1120
EEFAIDGRFCISIHDEVRYLVREEDRYRAALALQITNLLTRCMFAYKLGLNDLPQSVAFFSAVDIDRCLR   1121 - 1190
KEVTMDCKTPSNPTGMERRYGIPQGEALDIYQIIELTKGSLEKRSQPGP                        1191 - 1239
//

Text Mined References (245)

PMID Year Title
26942291 2016 PRICKLE2 Mutations Might Not Be Involved in Epilepsy.
26755490 2016 Characteristic brain MRI findings in ataxia-neuropathy spectrum related to POLG mutation.
26735972 2016 A Clinical, Neuropathological and Genetic Study of Homozygous A467T POLG-Related Mitochondrial Disease.
26496610 2015 A human interactome in three quantitative dimensions organized by stoichiometries and abundances.
26468652 2015 Mitochondrial DNA Polymerase POLG1 Disease Mutations and Germline Variants Promote Tumorigenic Properties.
26446790 2015 Mitochondrial Single-stranded DNA-binding Proteins Stimulate the Activity of DNA Polymerase ? by Organization of the Template DNA.
26335356 2015 The control of mitochondrial DNA replication during development and tumorigenesis.
26317126 2015 Searching for association of the CAG repeat polymorphism in the mitochondrial DNA polymerase gamma gene (POLG) with colorectal cancer.
26104464 2016 The spectrum of epilepsy caused by POLG mutations.
26095671 2015 The exonuclease activity of DNA polymerase ? is required for ligation during mitochondrial DNA replication.
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