Polg
Gene Detail

Symbol Name ID

Polg polymerase (DNA directed), gamma MGI:1196389

Synonyms

mitochondrial DNA polymerase gamma, mitochondrial DNA polymerase-gamma, Polga, Pol gamma, polymerase gamma

Feature Type

protein coding gene

Genetic Map

Chromosome 7

45.04 cM, cytoband E
Detailed Genetic Map ± 1 cM


Mapping data(2)

Sequence Map

Chr7:79448791-79466362 bp, - strand From VEGA annotation of GRCm38   17572 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate homology

HomoloGene:2016  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 chicken; 1 zebrafish

Protein SuperFamily: DNA-directed DNA polymerase, mitochondrial type
Gene Tree: Polg

Human homologs

Human Homolog		POLG, polymerase (DNA directed), gamma
NCBI Gene ID		5428
neXtProt AC		NX_P54098
Human Synonyms		MDP1, MIRAS, MTDPS4A, MTDPS4B, PEO, POLG1, POLGA, SANDO, SCAE
Human Chr (Location)		15q25; chr15:89859536-89878026 (-)  GRCh37.p10
Disease Associations		(5) Diseases Associated with Human POLG

Alleles and phenotypes

All alleles(9) : Targeted(5) Gene trapped(4)
 

Homozygous proof-reading deficient mutants display reduced life spans and premature aging with weight loss, decreased subcutaneous fat, alopecia, kyphosis, osteoporosis, anemia, reduced fertility, and enlarged hearts. Homozygous null mice display embryonic lethality.

 

Gene Ontology (GO) classifications

All GO classifications: (23 annotations)

Process	aging, DNA-dependent DNA replication, ...
Component	gamma DNA polymerase complex, mitochondrial inner membrane, ...
Function	chromatin binding, DNA binding, ...

External Resources: FuncBase

Expression

Literature Summary: (3 records)
Data Summary: Results (9)    Tissues (9)    Images (1)
Theiler Stages: 2, 3, 4, 5, 28

Assay Type	Results
RT-PCR	9

cDNA source data(11)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(13) Genomic(1) cDNA(11) Primer pair(1)
Microarray probesets(7)

Other database links

VEGA Gene Model	OTTMUSG00000029097 (Evidence)
Ensembl Gene Model	ENSMUSG00000039176 (Evidence)
Entrez Gene	18975 (Evidence)
EC	2.7.7.7
Consensus CDS Project	CCDS21382.1
International Mouse Knockout Project Status	Polg

Sequences

Length	Strain/Species
genomic	OTTMUSG00000029097	VEGA Gene Model | MGI Sequence Detail	17572	C57BL/6J
transcript	OTTMUST00000072160	VEGA | MGI Sequence Detail	5277	Not Applicable
polypeptide	OTTMUSP00000037076	VEGA | MGI Sequence Detail	1217	Not Applicable

All sequences(81) RefSeq(2) UniProt(8)

Polymorphisms

SNPs(74 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR019760	DNA-directed DNA polymerase, family A, conserved site
InterPro	IPR002297	DNA-directed DNA-polymerase, family A, mitochondria
InterPro	IPR016265	DNA-directed DNA polymerase, family A, mitochondria, subgroup
InterPro	IPR001098	DNA-directed DNA polymerase, family A, palm domain
Protein Ontology	PR:000012973	DNA polymerase subunit gamma-1

References

(Earliest) J:45383 Zullo SJ, et al., Localization by fluorescence in situ hybridization (FISH) of human mitochondrial polymerase gamma (POLG) to human chromosome band 15q24-- >q26, and of mouse mitochondrial polymerase gamma (Polg) to mouse chromosome band 7E, with confirmation by direct sequence analysis of bacterial artificial chromosomes (BACs). Cytogenet Cell Genet. 1997;78(3-4):281-4
(Latest) J:192568 Humble MM, et al., Polg2 is essential for mammalian embryogenesis and is required for mtDNA maintenance. Hum Mol Genet. 2013 Mar 1;22(5):1017-25
All references(68)

Other accession IDs

MGI:2141822