• Gene id: 5428

Gene Summary

• Gene Symbol: POLG   Gene   UCSC   Ensembl
• Aliases: MDP1, MIRAS, MTDPS4A, MTDPS4B, PEO, POLG1, POLGA, SANDO, SCAE
• Gene name: DNA polymerase gamma, catalytic subunit
• Alternate names: DNA polymerase subunit gamma-1, PolG-alpha, mitochondrial DNA polymerase catalytic subunit, polymerase (DNA directed), gamma, polymerase (DNA) gamma, catalytic subunit, truncated mitochondrial DNA polymerase gamma catalytic subunit,
• Gene location: 15q26.1 (89334794: 89316304)     Exons: 23     NC_000015.10
• Gene summary(Entrez): 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 polyglutami
• OMIM: 174763

SNPs

rs758130

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000015.10   g.89330566A>G
NC_000015.9   g.89873797A>G
NG_008218.2   g.9230T>C|SEQ=[A/G]|GENE=POLG

rs2238296

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000015.10   g.89332098A>G
NC_000015.9   g.89875329A>G
NG_008218.2   g.7698T>C|SEQ=[A/G]|GENE=POLG

Protein Summary

• Protein general information: P54098  
  • Name: DNA polymerase subunit gamma 1 (EC 2.7.7.7) (Mitochondrial DNA polymerase catalytic subunit) (PolG alpha)
  • Length: 1239  
  • Mass: 139,562
• Sequence:

  MSRLLWRKVAGATVGPGPVPAPGRWVSSSVPASDPSDGQRRRQQQQQQQQQQQQQPQQPQVLSSEGGQLRHNPLD
  IQMLSRGLHEQIFGQGGEMPGEAAVRRSVEHLQKHGLWGQPAVPLPDVELRLPPLYGDNLDQHFRLLAQKQSLPY
  LEAANLLLQAQLPPKPPAWAWAEGWTRYGPEGEAVPVAIPEERALVFDVEVCLAEGTCPTLAVAISPSAWYSWCS
  QRLVEERYSWTSQLSPADLIPLEVPTGASSPTQRDWQEQLVVGHNVSFDRAHIREQYLIQGSRMRFLDTMSMHMA
  ISGLSSFQRSLWIAAKQGKHKVQPPTKQGQKSQRKARRGPAISSWDWLDISSVNSLAEVHRLYVGGPPLEKEPRE
  LFVKGTMKDIRENFQDLMQYCAQDVWATHEVFQQQLPLFLERCPHPVTLAGMLEMGVSYLPVNQNWERYLAEAQG
  TYEELQREMKKSLMDLANDACQLLSGERYKEDPWLWDLEWDLQEFKQKKAKKVKKEPATASKLPIEGAGAPGDPM
  DQEDLGPCSEEEEFQQDVMARACLQKLKGTTELLPKRPQHLPGHPGWYRKLCPRLDDPAWTPGPSLLSLQMRVTP
  KLMALTWDGFPLHYSERHGWGYLVPGRRDNLAKLPTGTTLESAGVVCPYRAIESLYRKHCLEQGKQQLMPQEAGL
  AEEFLLTDNSAIWQTVEELDYLEVEAEAKMENLRAAVPGQPLALTARGGPKDTQPSYHHGNGPYNDVDIPGCWFF
  KLPHKDGNSCNVGSPFAKDFLPKMEDGTLQAGPGGASGPRALEINKMISFWRNAHKRISSQMVVWLPRSALPRAV
  IRHPDYDEEGLYGAILPQVVTAGTITRRAVEPTWLTASNARPDRVGSELKAMVQAPPGYTLVGADVDSQELWIAA
  VLGDAHFAGMHGCTAFGWMTLQGRKSRGTDLHSKTATTVGISREHAKIFNYGRIYGAGQPFAERLLMQFNHRLTQ
  QEAAEKAQQMYAATKGLRWYRLSDEGEWLVRELNLPVDRTEGGWISLQDLRKVQRETARKSQWKKWEVVAERAWK
  GGTESEMFNKLESIATSDIPRTPVLGCCISRALEPSAVQEEFMTSRVNWVVQSSAVDYLHLMLVAMKWLFEEFAI
  DGRFCISIHDEVRYLVREEDRYRAALALQITNLLTRCMFAYKLGLNDLPQSVAFFSAVDIDRCLRKEVTMDCKTP
  SNPTGMERRYGIPQGEALDIYQIIELTKGSLEKRSQPGP

• Structural information:
  • Interpro: IPR019760  IPR002297  IPR001098  IPR012337  
  • Prosite: PS00447
  • PDB: 3IKM 4ZTU 4ZTZ 5C51 5C52 5C53
  • PDBsum: 3IKM 4ZTU 4ZTZ 5C51 5C52 5C53
  • STRING: ENSP00000268124
• Other Databases: GeneCards:  POLG  Malacards:  POLG

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0002020	protease binding	IPI	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0003682	chromatin binding	IDA	molecular function
GO:0003887	DNA-directed DNA polymerase activity	IDA	molecular function
GO:0003887	DNA-directed DNA polymerase activity	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005739	mitochondrion	TAS	cellular component
GO:0005760	gamma DNA polymerase complex	IEA	cellular component
GO:0006259	DNA metabolic process	TAS	biological process
GO:0006261	DNA-dependent DNA replication	TAS	biological process
GO:0006264	mitochondrial DNA replication	IBA	biological process
GO:0006287	base-excision repair, gap-filling	IDA	biological process
GO:0007568	aging	IEA	biological process
GO:0008408	3'-5' exonuclease activity	IBA	molecular function
GO:0009416	response to light stimulus	IEA	biological process
GO:0010332	response to gamma radiation	IEA	biological process
GO:0042645	mitochondrial nucleoid	IDA	cellular component
GO:0043195	terminal bouton	IEA	cellular component
GO:0043234	protein complex	IDA	cellular component
GO:0055093	response to hyperoxia	IEA	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0071333	cellular response to glucose stimulus	IEA	biological process
GO:0071897	DNA biosynthetic process	IEA	biological process
GO:0090305	nucleic acid phosphodiester bond hydrolysis	IEA	biological process
GO:0002020	protease binding	IPI	molecular function
GO:0003676	nucleic acid binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0003682	chromatin binding	IDA	molecular function
GO:0003887	DNA-directed DNA polymerase activity	IEA	molecular function
GO:0003887	DNA-directed DNA polymerase activity	IEA	molecular function
GO:0003887	DNA-directed DNA polymerase activity	IEA	molecular function
GO:0003887	DNA-directed DNA polymerase activity	IEA	molecular function
GO:0003887	DNA-directed DNA polymerase activity	IDA	molecular function
GO:0003887	DNA-directed DNA polymerase activity	IDA	molecular function
GO:0003887	DNA-directed DNA polymerase activity	TAS	molecular function
GO:0003887	DNA-directed DNA polymerase activity	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005739	mitochondrion	TAS	cellular component
GO:0005760	gamma DNA polymerase complex	IEA	cellular component
GO:0005760	gamma DNA polymerase complex	IEA	cellular component
GO:0006259	DNA metabolic process	TAS	biological process
GO:0006260	DNA replication	IEA	biological process
GO:0006260	DNA replication	IEA	biological process
GO:0006261	DNA-dependent DNA replication	TAS	biological process
GO:0006264	mitochondrial DNA replication	IBA	biological process
GO:0006287	base-excision repair, gap-filling	IDA	biological process
GO:0007568	aging	IEA	biological process
GO:0008408	3'-5' exonuclease activity	IBA	molecular function
GO:0009416	response to light stimulus	IEA	biological process
GO:0010332	response to gamma radiation	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0016779	nucleotidyltransferase activity	IEA	molecular function
GO:0042645	mitochondrial nucleoid	IEA	cellular component
GO:0042645	mitochondrial nucleoid	IEA	cellular component
GO:0042645	mitochondrial nucleoid	IDA	cellular component
GO:0043195	terminal bouton	IEA	cellular component
GO:0043234	protein complex	IDA	cellular component
GO:0055093	response to hyperoxia	IEA	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0071333	cellular response to glucose stimulus	IEA	biological process
GO:0071897	DNA biosynthetic process	IEA	biological process
GO:0090305	nucleic acid phosphodiester bond hydrolysis	IEA	biological process
GO:0002020	protease binding	IPI	molecular function
GO:0003682	chromatin binding	IDA	molecular function
GO:0003887	DNA-directed DNA polymerase activity	IDA	molecular function
GO:0003887	DNA-directed DNA polymerase activity	IDA	molecular function
GO:0003887	DNA-directed DNA polymerase activity	TAS	molecular function
GO:0003887	DNA-directed DNA polymerase activity	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005739	mitochondrion	TAS	cellular component
GO:0006259	DNA metabolic process	TAS	biological process
GO:0006261	DNA-dependent DNA replication	TAS	biological process
GO:0006264	mitochondrial DNA replication	IBA	biological process
GO:0006287	base-excision repair, gap-filling	IDA	biological process
GO:0008408	3'-5' exonuclease activity	IBA	molecular function
GO:0042645	mitochondrial nucleoid	IDA	cellular component
GO:0043234	protein complex	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component

Diseases

Associated diseases	References
Cancer	GAD: 19237606
Cancer (bladder)	GAD: 19237606
Hypertension	GAD: 20198856
Neuropathy	GAD: 12036482
Multiple sclerosis	GAD: 20522537
Mitochondrial diseases	KEGG: H00469
Mitochondrial diseases	KEGG: H01390
Diabetes	GAD: 19425506
Progressive external ophthalmoplegia	KEGG: H01118
Chronic progressive external ophthalmoplegia	GAD: 19578034
Ataxia	KEGG: H01384
Ataxia	GAD: 17300808
Parkinson disease	GAD: 15694274
Chronic renal failure	GAD: 21085059
46, XX disorders of sex development	GAD: 20701905
Premature ovarian insufficiency (POI)	INFBASE: 20701905
Asthenozoospermia	MIK: 16970152
Azoospermia	MIK: 16970152
Oligoasthenoteratozoospermia	MIK: 17339235
Male factor infertility	MIK: 21806654
Sperm quality defects	MIK: 11687794
Oligozoospermia	MIK: 16970152
Unexplained infertility	MIK: 14688158
Spermatogenesis defects	MIK: 23912752
Asthenozoospermia	MIK: 16487403
POLG related disorders	KEGG: H01395
Alpers syndrome	KEGG: H01389
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Asthenospermia	MIK: 16970152
Azoospermia	MIK: 16970152
Cryptorchidism	MIK: 28606200
Sperm quality defects	MIK: 11687794
Male infertility	MIK: 18798765
Oligoasthenoteratozoospermia	MIK: 17339235
Oligozoospermia	MIK: 16553026
Spermatogenic failure	MIK: 23912752
Oligoasthenozoospermia	MIK: 23912752
Unexplained subfertility	MIK: 14688158

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
14688158	Unexplained subfertility			1298 (429 patients with infertility/subfertility, and 869 controls (495 men from the general population with unknown fertility and 374 recent fathers))	Male infertility
21806654	Male infertility	(POLG) CAG repeats	Tunisia	339 male subjects (216 patients with infertility (69 azoospermic, 115 oligoasthenoteratospermic and 32 normospermic) and 123 fertile)	Male infertility
21102476	Male infertility	CAG-repeat polymorphisms	Chinese Han	811 (535 healthy individuals, 150 infertile men and 126 fertile men)	Male infertility
17339235	Oligoasthenoteratozoospermics (OATs)	CAG repeats			Male infertility	POLG TFAM
16970152	Asthenospermia, oligospermia, azoospermia	10/not 10 CAG genotype	Chinese	250 (55 asthenospermia patients, 57 oligospermia patients, 34 azoospermia patients, and 104 controls)	Male infertility
14688158	Unexplained subfertility, male infertility	CAG repeat (usually 10 codons long) in the POLG gene		1298 male subjects: 429 patients with infertility/subfertility, and 869 controls (495 men from the general population with unknown fertility and 374 recent fathers)	Male infertility
11687794	Male infertility, sperm quality defects				Male infertility	CAG microsatellite repeat
23912752	Spermatogenic failure, oligoasthenospermia	10-CAG repeats	Indian men fro m Tamil Nadu	184 (124 infertile men (sperm count <20 million/ml), 60 normozoospermic (sperm count >20 million/ml) control Indian men of Tamil Nadu)	Male infertility
19807024	Male infertility	CAG-repeat polymorphism, rs758130 (T/C), rs2238296 (T/C)	Russian s, Bury ats		Male infertility	POLG1
18798765	Male infertility	POLG-CAG repeat	Indian	750 (509 oligoasthenozoospermic, 241 normozoospermic control)	Male infertility	POLG
16553026	Oligozoospermia	POLG1 (CAG-repeat polymorphisms)		625 (348 controls, 277 patients)	Male infertility	POLG1
16487403	Azoospermia, asthenozoospermia, male subfertility	POLgamma (CAG repeat length, )		285 (93 normozoospermic men, 192 non-normozoospermic men)	Male infertility	POLgamma
15650046	Male infertility	POLG(CAG repeat)		524 (433 infertile, 91 fertile, normozoospermic and healthy males)	Male infertility	POLG
15356024	Male infertility	POLG (CAG repeat)			Male infertility	POLG
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq