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POLA1 (DNA polymerase alpha 1, catalytic subunit)

Identity

Alias (NCBI)NSX
POLA
VEODS
p180
HGNC (Hugo) POLA1
HGNC Alias symbp180
HGNC Previous namePOLA
 NSX
HGNC Previous namepolymerase (DNA directed), alpha
 N syndrome (mental retardation, malformations, chromosome breakage)
 polymerase (DNA) alpha 1, catalytic subunit
LocusID (NCBI) 5422
Atlas_Id 41768
Location Xp22.11  [Link to chromosome band Xp22]
Location_base_pair Starts at 24693918 and ends at 24996985 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
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    DNA polymerase alpha 1, catalytic subunit
AliasesNSX; POLA; VEODS; p180
GeneCards (Weizmann)POLA1
Ensembl hg19 (Hinxton)ENSG00000101868 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000101868 [Gene_View]  ENSG00000101868 [Sequence]  chrX:24693918-24996985 [Contig_View]  POLA1 [Vega]
ICGC DataPortalENSG00000101868
TCGA cBioPortalPOLA1
AceView (NCBI)POLA1
Genatlas (Paris)POLA1
SOURCE (Princeton)POLA1
Genetics Home Reference (NIH)POLA1
Genomic and cartography
GoldenPath hg38 (UCSC)POLA1  -     chrX:24693918-24996985 +  Xp22.11   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)POLA1  -     Xp22.11   [Description]    (hg19-Feb_2009)
GoldenPathPOLA1 - Xp22.11 [CytoView hg19]  POLA1 - Xp22.11 [CytoView hg38]
ImmunoBaseENSG00000101868
Genome Data Viewer NCBIPOLA1 [Mapview hg19]  
OMIM301030   301220   312040   
Gene and transcription
Genbank (Entrez)BM664024 BU508486 BX648513 CN364591 DW462890
RefSeq transcript (Entrez)NM_001330360 NM_001378303 NM_016937
Consensus coding sequences : CCDS (NCBI)POLA1
Gene ExpressionPOLA1 [ NCBI-GEO ]   POLA1 [ EBI - ARRAY_EXPRESS ]   POLA1 [ SEEK ]   POLA1 [ MEM ]
Gene Expression Viewer (FireBrowse)POLA1 [ Firebrowse - Broad ]
GenevisibleExpression of POLA1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5422
GTEX Portal (Tissue expression)POLA1
Human Protein AtlasENSG00000101868-POLA1 [pathology]   [cell]   [tissue]
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
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/RNA_pol_sf    DNA_pol_a_cat_su_N    DNA_pol_B_C    DNA_pol_palm_dom_sf    Pol_alpha_znc_sf    RNaseH-like_sf    RNaseH_sf    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
PDB (RSDB)1K0P    1K18    1N5G    4Q5V    4QCL    4Y97    5EXR    5IUD    6AS7   
PDB Europe1K0P    1K18    1N5G    4Q5V    4QCL    4Y97    5EXR    5IUD    6AS7   
PDB (PDBSum)1K0P    1K18    1N5G    4Q5V    4QCL    4Y97    5EXR    5IUD    6AS7   
PDB (IMB)1K0P    1K18    1N5G    4Q5V    4QCL    4Y97    5EXR    5IUD    6AS7   
Structural Biology KnowledgeBase1K0P    1K18    1N5G    4Q5V    4QCL    4Y97    5EXR    5IUD    6AS7   
SCOP (Structural Classification of Proteins)1K0P    1K18    1N5G    4Q5V    4QCL    4Y97    5EXR    5IUD    6AS7   
CATH (Classification of proteins structures)1K0P    1K18    1N5G    4Q5V    4QCL    4Y97    5EXR    5IUD    6AS7   
SuperfamilyP09884
AlphaFold pdb e-kbP09884   
Human Protein Atlas [tissue]ENSG00000101868-POLA1 [tissue]
HPRD02416
Protein Interaction databases
DIP (DOE-UCLA)P09884
IntAct (EBI)P09884
BioGRIDPOLA1
STRING (EMBL)POLA1
ZODIACPOLA1
Ontologies - Pathways
QuickGOP09884
Ontology : AmiGOregulation of transcription involved in G1/S transition of mitotic cell cycle  nucleotide binding  DNA synthesis involved in DNA repair  chromatin  DNA binding  chromatin binding  chromatin binding  DNA replication origin binding  single-stranded DNA binding  DNA-directed DNA polymerase activity  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  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  leading strand elongation  lagging strand elongation  lagging strand elongation  DNA repair  DNA repair  nucleotide-excision repair  double-strand break repair via nonhomologous end joining  nuclear matrix  purine nucleotide binding  pyrimidine nucleotide binding  protein kinase binding  telomere maintenance via semi-conservative replication  regulation of type I interferon production  metal ion binding  4 iron, 4 sulfur cluster binding  mitotic DNA replication initiation  DNA synthesis involved in UV-damage excision repair  
Ontology : EGO-EBIregulation of transcription involved in G1/S transition of mitotic cell cycle  nucleotide binding  DNA synthesis involved in DNA repair  chromatin  DNA binding  chromatin binding  chromatin binding  DNA replication origin binding  single-stranded DNA binding  DNA-directed DNA polymerase activity  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  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  leading strand elongation  lagging strand elongation  lagging strand elongation  DNA repair  DNA repair  nucleotide-excision repair  double-strand break repair via nonhomologous end joining  nuclear matrix  purine nucleotide binding  pyrimidine nucleotide binding  protein kinase binding  telomere maintenance via semi-conservative replication  regulation of type I interferon production  metal ion binding  4 iron, 4 sulfur cluster binding  mitotic DNA replication initiation  DNA synthesis involved in UV-damage excision repair  
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
Homologs : HomoloGenePOLA1
Homology/Alignments : Family Browser (UCSC)POLA1
Gene fusions - Rearrangements
Fusion : MitelmanOGT::POLA1 [Xq13.1/Xp22.11]  
Fusion : MitelmanPOLA1::CXorf58 [Xp22.11/Xp22.11]  
Fusion : MitelmanPOLA1::MAP3K15 [Xp22.11/Xp22.12]  
Fusion : MitelmanPOLA1::TIMELESS [Xp22.11/12q13.3]  
Fusion : QuiverPOLA1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPOLA1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)POLA1
dbVarPOLA1
ClinVarPOLA1
MonarchPOLA1
1000_GenomesPOLA1 
Exome Variant ServerPOLA1
GNOMAD BrowserENSG00000101868
Varsome BrowserPOLA1
ACMGPOLA1 variants
VarityP09884
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]  
Somatic Mutations in Cancer : COSMIC3DPOLA1
Mutations and Diseases : HGMDPOLA1
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaPOLA1
DgiDB (Drug Gene Interaction Database)POLA1
DoCM (Curated mutations)POLA1
CIViC (Clinical Interpretations of Variants in Cancer)POLA1
Cancer3DPOLA1
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM301030    301220    312040   
Orphanet11724   
DisGeNETPOLA1
MedgenPOLA1
Genetic Testing Registry POLA1
NextProtP09884 [Medical]
GENETestsPOLA1
Target ValidationPOLA1
Huge Navigator POLA1 [HugePedia]
ClinGenPOLA1
Clinical trials, drugs, therapy
MyCancerGenomePOLA1
Protein Interactions : CTDPOLA1
Pharm GKB GenePA162399856
PharosP09884
Clinical trialPOLA1
Miscellaneous
canSAR (ICR)POLA1
HarmonizomePOLA1
ARCHS4POLA1
DataMed IndexPOLA1
Probes
Litterature
PubMed120 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXPOLA1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Sun Jan 16 18:28:11 CET 2022

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