POLG - DNA polymerase gamma, catalytic subunit Gene
Also Known as PEO; MDP1; SCAE; MIRAS; POLG1; POLGA; SANDO; MTDPS4A; MTDPS4B
Species: Homo sapiens
About POLG
This gene has 30 transcripts (splice variants), 203 orthologues and is associated with 85 phenotypes. Ubiquitous expression in lymph node (RPKM 14.2), spleen (RPKM 13.3) and 25 other tissues.
Summary
Mitochondrial DNA Polymerase is heterotrimeric, consisting of a homodimer of accessory subunits plus a catalytic subunit. The protein encoded by this gene is the catalytic subunit of mitochondrial DNA Polymerase. The encoded protein contains a polyglutamine tract near its N-terminus that may be polymorphic. Defects in this gene are a cause of progressive external ophthalmoplegia with mitochondrial DNA deletions 1 (PEOA1), sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO), Alpers-Huttenlocher syndrome (AHS), and mitochondrial neurogastrointestinal encephalopathy syndrome (MNGIE). Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
POLG Products (2)
| mRNA | Protein | Name |
|---|---|---|
| NM_001126131.2 | NP_001119603.1 | DNA polymerase subunit gamma-1 |
| NM_002693.3 | NP_002684.1 | DNA polymerase subunit gamma-1 |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in DNA replication proofreading |
IDA
IDA: Inferred from direct assay
|
37202477 | GOA |
| involved in DNA replication proofreading |
IMP
IMP: Inferred from mutant phenotype
|
11897778 | GOA |
| involved in DNA-templated DNA replication |
IDA
IDA: Inferred from direct assay
|
10608893 | GOA |
| involved in base-excision repair |
IDA
IDA: Inferred from direct assay
|
9770471 | GOA |
| acts upstream of or within base-excision repair, gap-filling |
IDA
IDA: Inferred from direct assay
|
15177179 | GOA |
| involved in mitochondrial DNA replication |
IDA
IDA: Inferred from direct assay
|
19837034 | GOA |
| involved in mitochondrial DNA replication |
IMP
IMP: Inferred from mutant phenotype
|
26554610 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| part of gamma DNA polymerase complex |
IDA
IDA: Inferred from direct assay
|
10608893 | GOA |
| part of gamma DNA polymerase complex |
IPI
IPI: Inferred from physical interaction
|
19837034 | GOA |
| is active in mitochondrial chromosome |
IDA
IDA: Inferred from direct assay
|
26253742 | GOA |
| located in mitochondrial matrix |
IDA
IDA: Inferred from direct assay
|
19837034 | GOA |
| located in mitochondrial nucleoid |
IDA
IDA: Inferred from direct assay
|
18063578 | GOA |
| part of protein-containing complex |
IDA
IDA: Inferred from direct assay
|
25378300 | GOA |
POLG Protein Structure
DNA_pol_A: DNA polymerase family A (731 - 1182)
- 0
- 200
- 400
- 600
- 800
- 1000
- 1239 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
DNA polymerase subunit gamma-1 |
|
POLG Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
POLG | P54098 | POLG2 | Homo sapiens | Q9UHN1 | 16263719 | |
|
Intra
|
POLG | P54098 | POLG2 | Homo sapiens | Q9UHN1 | 16263719 | |
|
Intra
|
POLG | P54098 | POLG2 | Homo sapiens | Q9UHN1 | 16263719 | |
|
Intra
|
POLG | P54098 | POLG2 | Homo sapiens | Q9UHN1 | 16263719 | |
|
Intra
|
POLG | P54098 | POLG2 | Homo sapiens | Q9UHN1 | 19837034 |
POLG Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P83038 | POLG Antibody (YA2783) | WB | Human, Mouse, Rat |
| HY-P83038A | POLG Antibody (YA2783)(PBS only) | WB | Human, Mouse, Rat |
| HY-P83425 | POLG Antibody (YA3170) | WB | Human |
| HY-P83425A | POLG Antibody (YA3170)(PBS only) | WB | Human |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
|
| Mitochondrial Dna Depletion Syndrome 4a |
|
|
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
|
| Mitochondrial Dna Depletion Syndrome 4b |
|
|
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
|
| Myoclonic Epilepsy Myopathy Sensory Ataxia |
|
|
| Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
|
| Polg-Related Disorders |
|
|
| Autosomal Dominant Cerebellar Ataxia |
|
|
| Childhood Myocerebrohepatopathy Spectrum |
|
|
| Mitochondrial Dna Depletion Syndrome 1 |
|
|
| Camptocormism |
|
|
| Fanconi Anemia, Complementation Group I |
|
|
| Intellectual Developmental Disorder, X-Linked 108 |
|
|
| Mitochondrial Disease |
|
|
| Machado-Joseph Disease |
|
|
| Autosomal Dominant Progressive External Ophthalmoplegia |
|
|
| Hereditary Spastic Paraplegia |
|
|
| Nervous System Disease |
|
|
| Body Mass Index Quantitative Trait Locus 11 |
|
|
| Congenital Nervous System Abnormality |
|
|
| Leigh Syndrome |
|
|
| Mitochondrial Dna Depletion Syndrome |
|
|
| Chronic Progressive External Ophthalmoplegia |
|
|
| Status Epilepticus |
|
|
| Acute Liver Failure |
|
|
| Coenzyme Q10 Deficiency Disease |
|
|
| Parkinsonism |
|
|
| Neuropathy |
|
|
| Premature Menopause |
|
|
| Cortical Blindness |
|
|
| Mitochondrial Myopathy |
|
|
| Epilepsy |
|
|
| Lactic Acidosis |
|
|
| Mitochondrial Metabolism Disease |
|
|
| Myopathy |
|
|
| Bipolar Disorder |
|
|
| Intestinal Pseudo-Obstruction |
|
|
| Kearns-Sayre Syndrome |
|
|
| Ocular Motility Disease |
|
|
| Mitochondrial Dna Depletion Syndrome 7 |
|
|
| Axonal Neuropathy |
|
|
| Polyneuropathy |
|
|
| Male Infertility |
|
|
| Pearson Marrow-Pancreas Syndrome |
|
|
| Central Nervous System Origin Vertigo |
|
|
| Visual Cortex Disease |
|
|
| Spinocerebellar Ataxia 20 |
|
|
| Neuropathy, Ataxia, And Retinitis Pigmentosa |
|
|
| Partial Motor Epilepsy |
|
|
| Neonatal Period Electroclinical Syndrome |
|
|
| Visual Pathway Disease |
|
|
| Mitochondrial Dna Depletion Syndrome 6 |
|
|
| 3-Methylglutaconic Aciduria, Type Iii |
|
|
| Myotonic Cataract |
|
|
| Developmental And Epileptic Encephalopathy 47 |
|
|
| Internuclear Ophthalmoplegia |
|
|
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
|
| Neuropathy, Hereditary Sensory And Autonomic, Type Iia |
|
|
| Cranial Nerve Disease |
|
|
| Early Myoclonic Encephalopathy |
|
|
| 3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome |
|
|
| Dissociated Nystagmus |
|
|
| Myoclonic Epilepsy Associated With Ragged-Red Fibers |
|
|
| Friedreich Ataxia |
|
|
| Leber Hereditary Optic Neuropathy, Modifier Of |
|
|
| 3-Methylglutaconic Aciduria |
|
|
| Marinesco-Sjogren Syndrome |
|
|
| Mitochondrial Encephalomyopathy |
|
|
| Mitochondrial Dna Depletion Syndrome 3 |
|
|
| Infertility |
|
|
| Charcot-Marie-Tooth Disease |
|
|
| Mitochondrial Dna Depletion Syndrome 12b |
|
|
| Dystonia |
|
|
| Combined Oxidative Phosphorylation Deficiency 33 |
|
|
| Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
|
| Spermatogenic Failure |
|
|
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4 |
|
|
| Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
|
| Parkinson Disease, Late-Onset |
|
|
| Sensory Peripheral Neuropathy |
|
|
| Giant Axonal Neuropathy 1, Autosomal Recessive |
|
|
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1 |
|
|
| Hereditary Ataxia |
|
|
| Cerebellar Disease |
|
|
| Cataract |
|
|
| Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
|
| Optic Nerve Disease |
|
|
| Muscle Tissue Disease |
|
|
| Myopathy With Extrapyramidal Signs |
|
|
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
|
| Perrault Syndrome |
|
|
| Ptosis |
|
|
| Movement Disease |
|
|
| Muscular Disease |
|
|
| Choreatic Disease |
|
|
| Migraine With Or Without Aura 1 |
|
|
| Peripheral Nervous System Disease |
|
|
| Neuronal Ceroid Lipofuscinosis |
|
|
| West Syndrome |
|
|
| Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
|
| Developmental And Epileptic Encephalopathy |
|
|
| Spastic Ataxia |
|
|
| Sensorineural Hearing Loss |
|
|
| Retinitis Pigmentosa |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Canis familiaris | POLG | VGNC | VGNC:44781 |
| Felis catus | POLG | VGNC | VGNC:68940 |
| Bos taurus | POLG | VGNC | VGNC:33122 |
| Rattus norvegicus | POLG | RGD | RGD:620057 |
| Mus musculus | POLG | MGD | MGI:1196389 |
| Macaca mulatta | POLG | VGNC | VGNC:76205 |
| Others | POLG | NCBI |