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POLA1 (DNA polymerase alpha 1, catalytic subunit)

Identity

Alias_namesPOLA
NSX
polymerase (DNA directed), alpha
N syndrome (mental retardation, malformations, chromosome breakage)
polymerase (DNA) alpha 1, catalytic subunit
Alias_symbol (synonym)p180
Other alias
HGNC (Hugo) POLA1
LocusID (NCBI) 5422
Atlas_Id 41768
Location Xp22.11  [Link to chromosome band Xp22]
Location_base_pair Starts at 24693833 and ends at 24996985 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
OGT (Xq13.1) / POLA1 (Xp22.11)POLA1 (Xp22.11) / CXorf58 (Xp22.11)POLA1 (Xp22.11) / MAP3K15 (Xp22.12)
POLA1 (Xp22.11) / TIMELESS (12q13.3)RPL10 (Xq28) / POLA1 (Xp22.11)OGT Xq13.1 / POLA1 Xp22.11
POLA1 Xp22.11 / CXorf58 Xp22.11POLA1 Xp22.11 / MAP3K15 Xp22.12POLA1 Xp22.11 / TIMELESS 12q13.3

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)POLA1   9173
Cards
Entrez_Gene (NCBI)POLA1  5422  DNA polymerase alpha 1, catalytic subunit
AliasesNSX; POLA; p180
GeneCards (Weizmann)POLA1
Ensembl hg19 (Hinxton)ENSG00000101868 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000101868 [Gene_View]  chrX:24693833-24996985 [Contig_View]  POLA1 [Vega]
ICGC DataPortalENSG00000101868
TCGA cBioPortalPOLA1
AceView (NCBI)POLA1
Genatlas (Paris)POLA1
WikiGenes5422
SOURCE (Princeton)POLA1
Genetics Home Reference (NIH)POLA1
Genomic and cartography
GoldenPath hg38 (UCSC)POLA1  -     chrX:24693833-24996985 +  Xp22.11   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)POLA1  -     Xp22.11   [Description]    (hg19-Feb_2009)
EnsemblPOLA1 - Xp22.11 [CytoView hg19]  POLA1 - Xp22.11 [CytoView hg38]
Mapping of homologs : NCBIPOLA1 [Mapview hg19]  POLA1 [Mapview hg38]
OMIM301220   310465   312040   
Gene and transcription
Genbank (Entrez)BM664024 BU508486 BX648513 CN364591 DW462890
RefSeq transcript (Entrez)NM_001330360 NM_016937
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)POLA1
Cluster EST : UnigeneHs.567319 [ NCBI ]
CGAP (NCI)Hs.567319
Alternative Splicing GalleryENSG00000101868
Gene ExpressionPOLA1 [ NCBI-GEO ]   POLA1 [ EBI - ARRAY_EXPRESS ]   POLA1 [ SEEK ]   POLA1 [ MEM ]
Gene Expression Viewer (FireBrowse)POLA1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5422
GTEX Portal (Tissue expression)POLA1
Protein : pattern, domain, 3D structure
UniProt/SwissProtP09884   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP09884  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP09884
Splice isoforms : SwissVarP09884
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 ]   
PhosPhoSitePlusP09884
Domaine pattern : Prosite (Expaxy)DNA_POLYMERASE_B (PS00116)   
Domains : Interpro (EBI)DNA-dir_DNA_pol_B    DNA-dir_DNA_pol_B_CS    DNA-dir_DNA_pol_B_exonuc    DNA-dir_DNA_pol_B_multi_dom    DNA_pol_a_cat_su_N    DNA_pol_palm_dom    POLA/Pol1    RNaseH-like_dom    Znf_DNA-dir_DNA_pol_B_alpha   
Domain families : Pfam (Sanger)DNA_pol_alpha_N (PF12254)    DNA_pol_B (PF00136)    DNA_pol_B_exo1 (PF03104)    zf-DNA_Pol (PF08996)   
Domain families : Pfam (NCBI)pfam12254    pfam00136    pfam03104    pfam08996   
Domain families : Smart (EMBL)POLBc (SM00486)  
Conserved Domain (NCBI)POLA1
DMDM Disease mutations5422
Blocks (Seattle)POLA1
PDB (SRS)1K0P    1K18    1N5G    4Q5V    4QCL    4Y97    5EXR    5IUD   
PDB (PDBSum)1K0P    1K18    1N5G    4Q5V    4QCL    4Y97    5EXR    5IUD   
PDB (IMB)1K0P    1K18    1N5G    4Q5V    4QCL    4Y97    5EXR    5IUD   
PDB (RSDB)1K0P    1K18    1N5G    4Q5V    4QCL    4Y97    5EXR    5IUD   
Structural Biology KnowledgeBase1K0P    1K18    1N5G    4Q5V    4QCL    4Y97    5EXR    5IUD   
SCOP (Structural Classification of Proteins)1K0P    1K18    1N5G    4Q5V    4QCL    4Y97    5EXR    5IUD   
CATH (Classification of proteins structures)1K0P    1K18    1N5G    4Q5V    4QCL    4Y97    5EXR    5IUD   
SuperfamilyP09884
Human Protein AtlasENSG00000101868
Peptide AtlasP09884
HPRD02416
IPIIPI00220317   IPI00647655   
Protein Interaction databases
DIP (DOE-UCLA)P09884
IntAct (EBI)P09884
FunCoupENSG00000101868
BioGRIDPOLA1
STRING (EMBL)POLA1
ZODIACPOLA1
Ontologies - Pathways
QuickGOP09884
Ontology : AmiGOG1/S transition of mitotic cell cycle  regulation of transcription involved in G1/S transition of mitotic cell cycle  nucleotide binding  telomere maintenance via recombination  DNA synthesis involved in DNA repair  chromatin  nucleoside binding  DNA binding  DNA binding  chromatin binding  DNA-directed DNA polymerase activity  DNA-directed DNA polymerase activity  protein binding  nucleus  nuclear envelope  nucleoplasm  nucleoplasm  alpha DNA polymerase:primase complex  alpha DNA polymerase:primase complex  nucleolus  cytosol  DNA replication  DNA replication, synthesis of RNA primer  DNA replication initiation  DNA replication initiation  DNA strand elongation involved in DNA replication  leading strand elongation  lagging strand elongation  DNA repair  double-strand break repair via nonhomologous end joining  cell proliferation  3'-5' exonuclease activity  viral process  nuclear matrix  protein kinase binding  metal ion binding  4 iron, 4 sulfur cluster binding  nucleic acid phosphodiester bond hydrolysis  
Ontology : EGO-EBIG1/S transition of mitotic cell cycle  regulation of transcription involved in G1/S transition of mitotic cell cycle  nucleotide binding  telomere maintenance via recombination  DNA synthesis involved in DNA repair  chromatin  nucleoside binding  DNA binding  DNA binding  chromatin binding  DNA-directed DNA polymerase activity  DNA-directed DNA polymerase activity  protein binding  nucleus  nuclear envelope  nucleoplasm  nucleoplasm  alpha DNA polymerase:primase complex  alpha DNA polymerase:primase complex  nucleolus  cytosol  DNA replication  DNA replication, synthesis of RNA primer  DNA replication initiation  DNA replication initiation  DNA strand elongation involved in DNA replication  leading strand elongation  lagging strand elongation  DNA repair  double-strand break repair via nonhomologous end joining  cell proliferation  3'-5' exonuclease activity  viral process  nuclear matrix  protein kinase binding  metal ion binding  4 iron, 4 sulfur cluster binding  nucleic acid phosphodiester bond hydrolysis  
Pathways : KEGGPurine metabolism    Pyrimidine metabolism    DNA replication   
NDEx NetworkPOLA1
Atlas of Cancer Signalling NetworkPOLA1
Wikipedia pathwaysPOLA1
Orthology - Evolution
OrthoDB5422
GeneTree (enSembl)ENSG00000101868
Phylogenetic Trees/Animal Genes : TreeFamPOLA1
HOVERGENP09884
HOGENOMP09884
Homologs : HomoloGenePOLA1
Homology/Alignments : Family Browser (UCSC)POLA1
Gene fusions - Rearrangements
Fusion : MitelmanOGT/POLA1 [Xq13.1/Xp22.11]  [t(X;X)(p22;q13)]  
Fusion : MitelmanPOLA1/CXorf58 [Xp22.11/Xp22.11]  [t(X;X)(p22;p22)]  
Fusion : MitelmanPOLA1/MAP3K15 [Xp22.11/Xp22.12]  [t(X;X)(p22;p22)]  
Fusion : MitelmanPOLA1/TIMELESS [Xp22.11/12q13.3]  [t(X;12)(p22;q13)]  
Fusion: TCGAOGT Xq13.1 POLA1 Xp22.11 PRAD
Fusion: TCGAPOLA1 Xp22.11 CXorf58 Xp22.11 BLCA
Fusion: TCGAPOLA1 Xp22.11 MAP3K15 Xp22.12 BRCA
Fusion: TCGAPOLA1 Xp22.11 TIMELESS 12q13.3 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPOLA1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)POLA1
dbVarPOLA1
ClinVarPOLA1
1000_GenomesPOLA1 
Exome Variant ServerPOLA1
ExAC (Exome Aggregation Consortium)POLA1 (select the gene name)
Genetic variants : HAPMAP5422
Genomic Variants (DGV)POLA1 [DGVbeta]
DECIPHERPOLA1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPOLA1 
Mutations
ICGC Data PortalPOLA1 
TCGA Data PortalPOLA1 
Broad Tumor PortalPOLA1
OASIS PortalPOLA1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPOLA1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPOLA1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)X-chromosome gene database
BioMutasearch POLA1
DgiDB (Drug Gene Interaction Database)POLA1
DoCM (Curated mutations)POLA1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)POLA1 (select a term)
intoGenPOLA1
Cancer3DPOLA1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM301220    310465    312040   
Orphanet11724   
MedgenPOLA1
Genetic Testing Registry POLA1
NextProtP09884 [Medical]
TSGene5422
GENETestsPOLA1
Target ValidationPOLA1
Huge Navigator POLA1 [HugePedia]
snp3D : Map Gene to Disease5422
BioCentury BCIQPOLA1
ClinGenPOLA1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5422
Chemical/Pharm GKB GenePA162399856
Clinical trialPOLA1
Miscellaneous
canSAR (ICR)POLA1 (select the gene name)
Probes
Litterature
PubMed90 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePOLA1
EVEXPOLA1
GoPubMedPOLA1
iHOPPOLA1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed Jun 7 12:50:11 CEST 2017

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