InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: POLG

Summary

InnateDB Gene

IDBG-29260.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

POLG

Gene Name

polymerase (DNA directed), gamma

Synonyms

MDP1; MIRAS; MTDPS4A; MTDPS4B; PEO; POLG1; POLGA; SANDO; SCAE

Species

Homo sapiens

Ensembl Gene

ENSG00000140521

Encoded Proteins

IDBP-29262

polymerase (DNA directed), gamma

IDBP-380118

polymerase (DNA directed), gamma

IDBP-583264

polymerase (DNA directed), gamma

IDBP-593563

polymerase (DNA directed), gamma

IDBP-602259

polymerase (DNA directed), gamma

IDBP-595260

polymerase (DNA directed), gamma

IDBP-597747

polymerase (DNA directed), gamma

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

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]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 15:89316303-89334861

Strand

Reverse strand

Band

q26.1

Transcripts

ENST00000268124	ENSP00000268124
ENST00000442287	ENSP00000399851
ENST00000530292	ENSP00000432885
ENST00000526671
ENST00000530715	ENSP00000431395
ENST00000528881	ENSP00000433502
ENST00000532584
ENST00000526314	ENSP00000432389
ENST00000526398	ENSP00000434937
ENST00000526573
ENST00000533857
ENST00000532363
ENST00000525806

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 6 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Experimentally validated
Total	6 [view]
Protein-Protein	6 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0002020	protease binding
GO:0003676	nucleic acid binding
GO:0003677	DNA binding
GO:0003682	chromatin binding
GO:0003887	DNA-directed DNA polymerase activity
GO:0004527	exonuclease activity
GO:0005515	protein binding

Biological Process

GO:0006259	DNA metabolic process
GO:0006260	DNA replication
GO:0006261	DNA-dependent DNA replication
GO:0006264	mitochondrial DNA replication
GO:0006287	base-excision repair, gap-filling
GO:0007568	aging
GO:0008219	cell death
GO:0090305	nucleic acid phosphodiester bond hydrolysis

Cellular Component

GO:0005739	mitochondrion
GO:0005743	mitochondrial inner membrane
GO:0005760	gamma DNA polymerase complex
GO:0042645	mitochondrial nucleoid
GO:0070062	extracellular vesicular exosome

Orthologs

Species

Mus musculus

Bos taurus

Gene ID

Gene Order

ENSMUSG00000039176

View Gene Order

ENSBTAG00000009098

Not yet available

Cross-References

SwissProt

TrEMBL

UniProt Splice Variant

Entrez Gene

UniGene

Hs.706868

RefSeq

NM_001126131 NM_002693

HUGO

OMIM

CCDS

CCDS10350

HPRD

01438

IMGT

EMBL

GenPept

RNA Seq Atlas