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Protein Page:
POLG (human)
p Phosphorylation
ac Acetylation
me Methylation
m1 Mono-methylation
m2 Di-methylation
m3 Tri-methylation
ub Ubiquitination
sm Sumoylation
ne Neddylation
gl O-GlcNAc
ga O-GalNAc
pa Palmitoylation
ad Adenylylation
sn S-Nitrosylation
ca Caspase cleavage
sc Succinylation

Overview
POLG Involved in the replication of mitochondrial DNA. Associates with mitochondrial DNA. Defects in POLG are the cause of progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 1 (PEOA1). Progressive external ophthalmoplegia is characterized by progressive weakness of ocular muscles and levator muscle of the upper eyelid. In a minority of cases, it is associated with skeletal myopathy, which predominantly involves axial or proximal muscles and which causes abnormal fatigability and even permanent muscle weakness. Ragged- red fibers and atrophy are found on muscle biopsy. A large proportion of chronic ophthalmoplegias are associated with other symptoms, leading to a multisystemic pattern of this disease. Additional symptoms are variable, and may include cataracts, hearing loss, sensory axonal neuropathy, ataxia, depression, hypogonadism, and parkinsonism. Defects in POLG are a cause of progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB). PEOB is a severe form of progressive external ophthalmoplegia. It is clinically more heterogeneous than the autosomal dominant forms. Can be more severe. Defects in POLG are a cause of sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO). SANDO is a systemic disorder resulting from mitochondrial dysfunction associated with mitochondrial depletion in skeletal muscle and peripheral nerve tissue. The clinical triad of symptoms consists of sensory ataxic neuropathy, dysarthria, and ophthalmoparesis. However, the phenotype varies widely, even within the same family, and can also include myopathy, seizures, and hearing loss. An atypical form of the disease is characterized by headaches and/or seizures manifesting in childhood or adolescence, followed by development of cerebellar and sensory ataxia, dysarthria, progressive external ophthalmoplegia, and myoclonus in early adulthood. Defects in POLG are the cause of mitochondrial DNA depletion syndrome type 4A (MTDPS4A); also called Alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis. An autosomal recessive hepatocerebral syndrome. The typical course of the disease includes severe developmental delay, intractable seizures, liver failure, and death in childhood. Refractory seizures, cortical blindness, progressive liver dysfunction, and acute liver failure after exposure to valproic acid are considered diagnostic features. The neuropathological hallmarks are neuronal loss, spongiform degeneration, and astrocytosis of the visual cortex. Liver biopsy results show steatosis, often progressing to cirrhosis. Defects in POLG are the cause of mitochondrial DNA depletion syndrome type 4B (MTDPS4B); also known as mitochondrial DNA depletion syndrome 4B MNGIE type or mitochondrial neurogastrointestinal encephalopathy syndrome POLG- related. An autosomal recessive progressive multisystem disorder clinically characterized by chronic gastrointestinal dysmotility and pseudo-obstruction, cachexia, progressive external ophthalmoplegia, axonal sensory ataxic neuropathy, and muscle weakness. Defects in POLG are a cause of Leigh syndrome (LS). LS is a severe neurological disorder characterized by bilaterally symmetrical necrotic lesions in subcortical brain regions. Belongs to the DNA polymerase type-A family. Note: This description may include information from UniProtKB.
Protein type: Transferase; DNA repair, damage; Mitochondrial; DNA replication; EC 2.7.7.7
Cellular Component: gamma DNA polymerase complex; mitochondrion; mitochondrial inner membrane
Molecular Function: protein binding; protease binding; DNA binding; exonuclease activity; DNA-directed DNA polymerase activity; chromatin binding
Biological Process: base-excision repair, gap-filling; cell death; mitochondrial DNA replication; DNA-dependent DNA replication; DNA metabolic process; aging
Reference #:  P54098 (UniProtKB)
Alt. Names/Synonyms: DNA polymerase subunit gamma-1; DNA-directed DNA polymerase gamma; DPOG1; FLJ27114; MDP1; Mitochondrial DNA polymerase catalytic subunit; PEO; POLG; PolG, catalytic subunit; PolG-alpha; POLG1; POLGA; polymerase (DNA directed), gamma; SANDO; SCAE
Gene Symbols: POLG
Molecular weight: 139,562 Da
Basal Isoelectric point: 6.46  Predict pI for various phosphorylation states
Protein-Specific Antibodies or siRNAs from Cell Signaling Technology® Total Proteins
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POLG

Protein Structure Not Found.


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Modification Sites and Domains Show Modification Legend
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Modification Sites in Parent Protein, Orthologs, and Isoforms Show Modification Legend
 

Show Multiple Sequence Alignment


 SS 

SS: The number of records in which this modification site was determined using site-specific methods. SS methods include amino acid sequencing, site-directed mutagenesis, modification site-specific antibodies, specific MS strategies, etc.


 MS 

MS: The number of records in which this modification site was assigned using ONLY proteomic discovery-mode mass spectrometry.


       human

 
0 1 S296-p MRFLDTMsMHMAISG
0 1 K371-ub VGGPPLEkEPRELFV
0 1 S433-p GMLEMGVsYLPVNQN
0 1 K981-ub TQQEAAEkAQQMYAA
0 1 K990-ub QQMYAATkGLRWYRL
0 1 K1060-ub TESEMFNkLESIATS
0 1 K1167 TRCMFAYKLGLNDLP
0 1 Y1221-p QGEALDIyQIIELTK
  mouse

 
S279 MRFLDTMSMHMAISG
K354 VGGPPLEKEPRELFV
S416 GMLEMGVSYLPVNQN
K960 TRQEAAEKAQQMYAV
K969 QQMYAVTKGLRRYRL
K1039 TESEMFNKLESIAMS
K1146-ac TRCMFAYkLGLNDLP
Y1200 QGEALDIYQIIELTK
  rat

 
S279 MRFLDTMSMHMAISG
K353 VGGPRLAKEPRELFV
S415 GMLEMGVSYLPVNQN
K958 SRQEAADKAQQMYAV
K967 QQMYAVTKGLRRYRL
K1037 TESEMFNKLESIAMS
K1144 TRCMFAYKLGLNDLP
Y1198 QGEALDIYQIIELTK
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