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POLG (polymerase (DNA directed), gamma)

Identity

Other namesMDP1
MIRAS
MTDPS4A
MTDPS4B
PEO
POLG1
POLGA
SANDO
SCAE
HGNC (Hugo) POLG
LocusID (NCBI) 5428
Location 15q26.1
Location_base_pair Starts at 89859536 and ends at 89878026 bp from pter ( according to hg19-Feb_2009)
Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

External links

Nomenclature
HGNC (Hugo)POLG   9179
Cards
Entrez_Gene (NCBI)POLG  5428  polymerase (DNA directed), gamma
GeneCards (Weizmann)POLG
Ensembl (Hinxton)ENSG00000140521 [Gene_View]  chr15:89859536-89878026 [Contig_View]  POLG [Vega]
ICGC DataPortalENSG00000140521
cBioPortalPOLG
AceView (NCBI)POLG
Genatlas (Paris)POLG
WikiGenes5428
SOURCE (Princeton)NM_001126131 NM_002693
Genomic and cartography
GoldenPath (UCSC)POLG  -  15q26.1   chr15:89859536-89878026 -  15q26.1   [Description]    (hg19-Feb_2009)
EnsemblPOLG - 15q26.1 [CytoView]
Mapping of homologs : NCBIPOLG [Mapview]
OMIM157640   174763   203700   258450   603041   607459   613662   
Gene and transcription
Genbank (Entrez)AK130624 AK291281 AL110092 AW015913 BC042571
RefSeq transcript (Entrez)NM_001126131 NM_002693
RefSeq genomic (Entrez)AC_000147 NC_000015 NC_018926 NG_008218 NT_010194 NW_001838222 NW_004929399
Consensus coding sequences : CCDS (NCBI)POLG
Cluster EST : UnigeneHs.706868 [ NCBI ]
CGAP (NCI)Hs.706868
Alternative Splicing : Fast-db (Paris)GSHG0010707
Alternative Splicing GalleryENSG00000140521
Gene ExpressionPOLG [ NCBI-GEO ]     POLG [ SEEK ]   POLG [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP54098 (Uniprot)
NextProtP54098  [Medical]
With graphics : InterProP54098
Splice isoforms : SwissVarP54098 (Swissvar)
Catalytic activity : Enzyme2.7.7.7 [ Enzyme-Expasy ]   2.7.7.72.7.7.7 [ IntEnz-EBI ]   2.7.7.7 [ BRENDA ]   2.7.7.7 [ KEGG ]   
Domaine pattern : Prosite (Expaxy)DNA_POLYMERASE_A (PS00447)   
Domains : Interpro (EBI)DNA-dir_DNA_pol_A_CS [organisation]   DNA-dir_DNA_pol_A_mt [organisation]   DNA-dir_DNA_pol_A_mt_sub [organisation]   DNA-dir_DNA_pol_A_palm_dom [organisation]   RNaseH-like_dom [organisation]  
Related proteins : CluSTrP54098
Domain families : Pfam (Sanger)DNA_pol_A (PF00476)   
Domain families : Pfam (NCBI)pfam00476   
Domain families : Smart (EMBL)POLAc (SM00482)  
DMDM Disease mutations5428
Blocks (Seattle)P54098
PDB (SRS)3IKM   
PDB (PDBSum)3IKM   
PDB (IMB)3IKM   
PDB (RSDB)3IKM   
Human Protein AtlasENSG00000140521 [gene] [tissue] [antibody] [cell] [cancer]
Peptide AtlasP54098
HPRD01438
IPIIPI00004317   IPI00982072   IPI00980593   IPI00981195   IPI00979973   IPI00983259   
Protein Interaction databases
DIP (DOE-UCLA)P54098
IntAct (EBI)P54098
FunCoupENSG00000140521
BioGRIDPOLG
InParanoidP54098
Interologous Interaction database P54098
IntegromeDBPOLG
STRING (EMBL)POLG
Ontologies - Pathways
Ontology : AmiGOprotease binding  DNA binding  chromatin binding  DNA-directed DNA polymerase activity  exonuclease activity  protein binding  mitochondrion  mitochondrial inner membrane  gamma DNA polymerase complex  DNA metabolic process  DNA-dependent DNA replication  mitochondrial DNA replication  base-excision repair, gap-filling  aging  cell death  mitochondrial nucleoid  extracellular vesicular exosome  nucleic acid phosphodiester bond hydrolysis  
Ontology : EGO-EBIprotease binding  DNA binding  chromatin binding  DNA-directed DNA polymerase activity  exonuclease activity  protein binding  mitochondrion  mitochondrial inner membrane  gamma DNA polymerase complex  DNA metabolic process  DNA-dependent DNA replication  mitochondrial DNA replication  base-excision repair, gap-filling  aging  cell death  mitochondrial nucleoid  extracellular vesicular exosome  nucleic acid phosphodiester bond hydrolysis  
Protein Interaction DatabasePOLG
Wikipedia pathwaysPOLG
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)POLG
snp3D : Map Gene to Disease5428
SNP (GeneSNP Utah)POLG
SNP : HGBasePOLG
Genetic variants : HAPMAPPOLG
Exome VariantPOLG
1000_GenomesPOLG 
ICGC programENSG00000140521 
Somatic Mutations in Cancer : COSMICPOLG 
CONAN: Copy Number AnalysisPOLG 
Mutations and Diseases : HGMDPOLG
Mutations and Diseases : intOGenPOLG
Genomic VariantsPOLG  POLG [DGVbeta]
dbVarPOLG
ClinVarPOLG
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM157640    174763    203700    258450    603041    607459    613662   
MedgenPOLG
GENETestsPOLG
Disease Genetic AssociationPOLG
Huge Navigator POLG [HugePedia]  POLG [HugeCancerGEM]
General knowledge
Homologs : HomoloGenePOLG
Homology/Alignments : Family Browser (UCSC)POLG
Phylogenetic Trees/Animal Genes : TreeFamPOLG
Chemical/Protein Interactions : CTD5428
Chemical/Pharm GKB GenePA33500
Clinical trialPOLG
Cancer Resource (Charite)ENSG00000140521
Other databases
Probes
Litterature
PubMed214 Pubmed reference(s) in Entrez
CoreMinePOLG
iHOPPOLG
OncoSearchPOLG
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Aug 26 17:00:30 CEST 2014

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