POLG report

I. Expression across cell types

II. Expression across tissues

III. Associated gene sets

GO_0006264Biological processmitochondrial DNA replication
GO_0006287Biological processbase-excision repair, gap-filling
GO_0045004Biological processDNA replication proofreading
GO_0071897Biological processDNA biosynthetic process
GO_0006259Biological processDNA metabolic process
GO_0006284Biological processbase-excision repair
GO_0006261Biological processDNA-templated DNA replication
GO_0042645Cellular componentmitochondrial nucleoid
GO_0005739Cellular componentmitochondrion
GO_0005760Cellular componentgamma DNA polymerase complex
GO_0032991Cellular componentprotein-containing complex
GO_0005759Cellular componentmitochondrial matrix
GO_0043231Cellular componentintracellular membrane-bounded organelle
GO_0003887Molecular functionDNA-directed DNA polymerase activity
GO_0003677Molecular functionDNA binding
GO_0051575Molecular function5'-deoxyribose-5-phosphate lyase activity
GO_0003682Molecular functionchromatin binding
GO_0008310Molecular functionsingle-stranded DNA 3'-5' DNA exonuclease activity
GO_0008408Molecular function3'-5' exonuclease activity
GO_0002020Molecular functionprotease binding
GO_0005515Molecular functionprotein binding

IV. Literature review

[source]
Gene namePOLG
Protein nameDNA polymerase subunit gamma-1 (EC 2.7.7.7)
DNA polymerase subunit gamma-1 (EC 2.7.7.7) (3'-5' exodeoxyribonuclease) (EC 3.1.11.-) (5'-deoxyribose-phosphate lyase) (EC 4.2.99.-) (Mitochondrial DNA polymerase catalytic subunit) (PolG-alpha)
DNA polymerase subunit gamma-1 (Mitochondrial DNA polymerase catalytic subunit)
Mitochondrial DNA polymerase gamma catalytic subunit (EC 2.7.7.7)
Truncated mitochondrial DNA polymerase gamma catalytic subunit (EC 2.7.7.7)
DNA polymerase gamma, catalytic subunit
Truncated mitochondrial polymerase gamma catalytic subunit (EC 2.7.7.7)
DNA polymerase subunit gamma-1 (EC 2.7.7.7) (Mitochondrial DNA polymerase catalytic subunit)
Mitochondrial polymerase gamma catalytic subunit (EC 2.7.7.7)
Mitochondrial DNA polymerase gamma
SynonymsMDP1
POLGA
hCG_28647
POLG1
DescriptionFUNCTION: Catalytic subunit of DNA polymerase gamma solely responsible for replication of mitochondrial DNA (mtDNA). Replicates both heavy and light strands of the circular mtDNA genome using a single-stranded DNA template, RNA primers and the four deoxyribonucleoside triphosphates as substrates . Has 5' -> 3' polymerase activity. Functionally interacts with TWNK and SSBP1 at the replication fork to form a highly processive replisome, where TWNK unwinds the double-stranded DNA template prior to replication and SSBP1 covers the parental heavy strand to enable continuous replication of the entire mitochondrial genome. A single nucleotide incorporation cycle includes binding of the incoming nucleotide at the insertion site, a phosphodiester bond formation reaction that extends the 3'-end of the primer DNA, and translocation of the primer terminus to the post-insertion site. After completing replication of a mtDNA strand, mediates 3' -> 5' exonucleolytic degradation at the nick to enable proper ligation . Highly accurate due to high nucleotide selectivity and 3' -> 5' exonucleolytic proofreading. Proficiently corrects base substitutions, single-base additions and deletions in non-repetitive sequences and short repeats, but displays lower proofreading activity when replicating longer homopolymeric stretches. Exerts exonuclease activity toward single-stranded DNA and double-stranded DNA containing 3'-terminal mispairs. When a misincorporation occurs, transitions from replication to a pro-nucleolytic editing mode and removes the missincorporated nucleoside in the exonuclease active site. Proceeds via an SN2 nucleolytic mechanism in which Asp-198 catalyzes phosphodiester bond hydrolysis and Glu-200 stabilizes the leaving group. As a result the primer strand becomes one nucleotide shorter and is positioned in the post-insertion site, ready to resume DNA synthesis . Exerts 5'-deoxyribose phosphate (dRP) lyase activity and mediates repair-associated mtDNA synthesis (gap filling) in base-excision repair pathway. Catalyzes the release of the 5'-terminal 2-deoxyribose-5-phosphate sugar moiety from incised apurinic/apyrimidinic (AP) sites to produce a substrate for DNA ligase. The dRP lyase reaction does not require divalent metal ions and likely proceeds via a Schiff base intermediate in a beta-elimination reaction mechanism . .

FUNCTION: Involved in the replication of mitochondrial DNA. Associates with mitochondrial DNA. .

FUNCTION: Involved in the replication of mitochondrial DNA. Associates with mitochondrial DNA. .

FUNCTION: Involved in the replication of mitochondrial DNA. Associates with mitochondrial DNA. .

FUNCTION: Involved in the replication of mitochondrial DNA. Associates with mitochondrial DNA. .

FUNCTION: Involved in the replication of mitochondrial DNA. Associates with mitochondrial DNA. .

FUNCTION: Involved in the replication of mitochondrial DNA. Associates with mitochondrial DNA. .

AccessionsA0A0K2FPC3
H0YE43
ENST00000442287.6
A0A3G6VDX0
ENST00000636812.1
ENST00000530292.3
A0A3G6VDX4
ENST00000530715.5
ENST00000631044.2
ENST00000268124.11
A0A1B0GV99
ENST00000635831.1
A0A3G6VDX6
A0A3G6VDW8
ENST00000636937.2
A0A1B0GW33
ENST00000526398.1
ENST00000636774.1
P54098
A0A0K2FP50
ENST00000526314.2
H0YDF1
Q6JLA7
A0A0K2FPC8
ENST00000670281.1
H0YCV2
A0A0K2FQ90
H0YD36
A0A0D9SFM1
A0A1B0GUT0
A0A3G6VDY0
ENST00000637238.1
A0A1B0GVT8
A0A1B0GV78
A0A1B0GTQ6
ENST00000637307.1
A0A1B0GTU7
ENST00000666746.1
Q2V8Y0
A0A0K2FQ02
A0A590UK63
A0A590UJP1
H0YCD2
ENST00000637264.1
Q2V8X9
ENST00000635986.2
E5KNU5
ENST00000528881.2