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POLA1 Gene(Protein Coding)

DNA Polymerase Alpha 1, Catalytic Subunit

GCID:
GC0XP024712
GIFtS:
62
Genes Participants
UDN Logo

Aliases for POLA1 Gene

Aliases for POLA1 Gene

  • DNA Polymerase Alpha 1, Catalytic Subunit 2 3 5
  • Polymerase (DNA) Alpha 1, Catalytic Subunit 2 3
  • DNA Polymerase Alpha Catalytic Subunit P180 3 4
  • EC 2.7.7.7 4 61
  • POLA 3 4
  • N Syndrome (Mental Retardation, Malformations, Chromosome Breakage) 2
  • Polymerase (DNA Directed), Alpha 1, Catalytic Subunit 3
  • Polymerase (DNA-Directed), Alpha (70kD) 3
  • DNA Polymerase Alpha Catalytic Subunit 3
  • Polymerase (DNA Directed), Alpha 2
  • P180 3
  • NSX 3

External Ids for POLA1 Gene

Previous HGNC Symbols for POLA1 Gene

  • POLA
  • NSX

Previous GeneCards Identifiers for POLA1 Gene

  • GC0XP024622
  • GC0XP022457

Summaries for POLA1 Gene

Entrez Gene Summary for POLA1 Gene

  • This gene encodes the catalytic subunit of DNA polymerase, which together with a regulatory and two primase subunits, forms the DNA polymerase alpha complex. The catalytic subunit plays an essential role in the initiation of DNA replication. [provided by RefSeq, Mar 2010]

GeneCards Summary for POLA1 Gene

POLA1 (DNA Polymerase Alpha 1, Catalytic Subunit) is a Protein Coding gene. Diseases associated with POLA1 include Pigmentary Disorder, Reticulate, With Systemic Manifestations and N Syndrome. Among its related pathways are Telomere C-strand (Lagging Strand) Synthesis and E2F mediated regulation of DNA replication. GO annotations related to this gene include nucleic acid binding and nucleotide binding.

UniProtKB/Swiss-Prot for POLA1 Gene

  • Plays an essential role in the initiation of DNA replication. During the S phase of the cell cycle, the DNA polymerase alpha complex (composed of a catalytic subunit POLA1/p180, a regulatory subunit POLA2/p70 and two primase subunits PRIM1/p49 and PRIM2/p58) is recruited to DNA at the replicative forks via direct interactions with MCM10 and WDHD1. The primase subunit of the polymerase alpha complex initiates DNA synthesis by oligomerising short RNA primers on both leading and lagging strands. These primers are initially extended by the polymerase alpha catalytic subunit and subsequently transferred to polymerase delta and polymerase epsilon for processive synthesis on the lagging and leading strand, respectively. The reason this transfer occurs is because the polymerase alpha has limited processivity and lacks intrinsic 3 exonuclease activity for proofreading error, and therefore is not well suited for replicating long complexes. In the cytosol, responsible for a substantial proportion of the physiological concentration of cytosolic RNA:DNA hybrids, which are necessary to prevent spontaneous activation of type I interferon responses (PubMed:27019227).

Gene Wiki entry for POLA1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for POLA1 Gene

Genomics for POLA1 Gene

Products:

  1. Regulatory Element

Regulatory Elements for POLA1 Gene

Enhancers for POLA1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH0XG024144 1.4 Ensembl ENCODE 39.7 -544.7 -544728 9.7 FOXA2 PKNOX1 ARNT WRNIP1 ZFP64 ARID4B SIN3A FEZF1 ZNF2 YY1 POLA1 RPL9P7 ZFX ZFX-AS1
GH0XG024143 0.9 ENCODE 39.7 -550.2 -550184 0.7 ZNF493 ZFP64 ZEB1 ZNF155 ZNF302 ZNF354C KLF7 SP3 OVOL3 ZNF426 POLA1 RPL9P7 ZFX ENSG00000201407
GH0XG025011 1.4 FANTOM5 ENCODE dbSUPER 13.6 +318.7 318740 2.7 SIN3A GLI4 ZNF2 GLIS2 ZNF366 ZNF202 ZNF263 ZNF680 ZNF781 ZFP69B EIF2S3 POLA1 LOC389842 ARX PCYT1B GC0XP024999
GH0XG023905 1.1 ENCODE 14.7 -786.3 -786328 3.3 ARID4B SIN3A ZNF2 YY1 CBX5 ZNF207 ZNF143 KLF13 SP3 REST POLA1 KLHL15 APOO EIF2S3 CXorf58 RPL9P7
GH0XG023752 1 Ensembl ENCODE 14.7 -940.8 -940821 1.4 ZBTB21 MAX ZEB1 HNF4G MAFK ZNF639 ZNF426 ZFP37 ZEB2 ZNF501 POLA1 ACOT9 PRDX4
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around POLA1 on UCSC Golden Path with GeneCards custom track

Promoters for POLA1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000245396 27 1800 PKNOX1 CREB3L1 ARID4B SIN3A FEZF1 DMAP1 YY1 KLF13 DEK SP3

Transcription factor binding sites by QIAGEN in the POLA1 gene promoter:

Genomic Location for POLA1 Gene

Chromosome:
X
Start:
24,693,874 bp from pter
End:
24,996,986 bp from pter
Size:
303,113 bases
Orientation:
Plus strand

Genomic View for POLA1 Gene

Genes around POLA1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
POLA1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for POLA1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for POLA1 Gene

Proteins for POLA1 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for POLA1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P09884-DPOLA_HUMAN
    Recommended name:
    DNA polymerase alpha catalytic subunit
    Protein Accession:
    P09884
    Secondary Accessions:
    • Q86UQ7

    Protein attributes for POLA1 Gene

    Size:
    1462 amino acids
    Molecular mass:
    165913 Da
    Cofactor:
    Name=[4Fe-4S] cluster; Xref=ChEBI:CHEBI:49883;
    Quaternary structure:
    • The DNA polymerase alpha complex is composed of four subunits: the catalytic subunit POLA1, the regulatory subunit POLA2, and the small and the large primase subunits PRIM1 and PRIM2 respectively. Interacts with PARP1; this interaction functions as part of the control of replication fork progression. Interacts with MCM10 and WDHD1; these interactions recruit the polymerase alpha complex to the pre-replicative complex bound to DNA. Interacts with RPA1; this interaction stabilizes the replicative complex and reduces the misincorporation rate of DNA polymerase alpha by acting as a fidelity clamp. Interacts with SV40 Large T antigen; this interaction allows viral DNA replication. Interacts with herpes simplex virus 1 (HHV-1) replication origin-binding protein UL9.
    Miscellaneous:
    • In eukaryotes there are five DNA polymerases: alpha, beta, gamma, delta, and epsilon which are responsible for different reactions of DNA synthesis.

    Three dimensional structures from OCA and Proteopedia for POLA1 Gene

neXtProt entry for POLA1 Gene

Protein Expression for POLA1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for POLA1 Gene

P09884:
  • ALKLTANSMYGCLGF
  • LLLKKKKYAA
  • GYVEDGREIFDDDLED
  • YAFEIPDVP
  • NICFTTV
  • LYTQLCFYR
  • SRFYAKPLA
  • MSRTLMGGRSERNE
  • VIYGDTDS
  • SYVICQDGSNL
  • KYKIMKFKSK
  • HPVVARICEPIDGID
  • WSKIGRL
  • NLEEVFKLGN
  • FSHVFGTNT
  • PLALQITNI
  • DEENDALLGGP
  • LEVLLQRIN
  • IDTQYYL
  • SLYPSII
  • RQDDDWIVDDDG

Post-translational modifications for POLA1 Gene

  • A 165 kDa form is probably produced by proteolytic cleavage at Lys-124.
  • Ubiquitination at Lys970, posLast=12001200, Lys1316, and posLast=13761376
  • Modification sites at PhosphoSitePlus

Other Protein References for POLA1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for POLA1 Gene

Gene Families for POLA1 Gene

HGNC:

Protein Domains for POLA1 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for POLA1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P09884

UniProtKB/Swiss-Prot:

DPOLA_HUMAN :
  • The CysB motif binds 1 4Fe-4S cluster and is required for the formation of polymerase complexes.
  • Belongs to the DNA polymerase type-B family.
Domain:
  • The CysB motif binds 1 4Fe-4S cluster and is required for the formation of polymerase complexes.
Family:
  • Belongs to the DNA polymerase type-B family.
genes like me logo Genes that share domains with POLA1: view

Function for POLA1 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line
  7. Flow Cytometry

Molecular function for POLA1 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Deoxynucleoside triphosphate + DNA(n) = diphosphate + DNA(n+1).
UniProtKB/Swiss-Prot Function:
Plays an essential role in the initiation of DNA replication. During the S phase of the cell cycle, the DNA polymerase alpha complex (composed of a catalytic subunit POLA1/p180, a regulatory subunit POLA2/p70 and two primase subunits PRIM1/p49 and PRIM2/p58) is recruited to DNA at the replicative forks via direct interactions with MCM10 and WDHD1. The primase subunit of the polymerase alpha complex initiates DNA synthesis by oligomerising short RNA primers on both leading and lagging strands. These primers are initially extended by the polymerase alpha catalytic subunit and subsequently transferred to polymerase delta and polymerase epsilon for processive synthesis on the lagging and leading strand, respectively. The reason this transfer occurs is because the polymerase alpha has limited processivity and lacks intrinsic 3 exonuclease activity for proofreading error, and therefore is not well suited for replicating long complexes. In the cytosol, responsible for a substantial proportion of the physiological concentration of cytosolic RNA:DNA hybrids, which are necessary to prevent spontaneous activation of type I interferon responses (PubMed:27019227).

Enzyme Numbers (IUBMB) for POLA1 Gene

Gene Ontology (GO) - Molecular Function for POLA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IDA,IEA 3139084
GO:0001882 nucleoside binding IEA --
GO:0003676 nucleic acid binding IEA --
GO:0003677 DNA binding NAS,IEA 3359994
GO:0003682 chromatin binding IDA 16762037
genes like me logo Genes that share ontologies with POLA1: view
genes like me logo Genes that share phenotypes with POLA1: view

Human Phenotype Ontology for POLA1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for POLA1 Gene

Localization for POLA1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for POLA1 Gene

Nucleus. Cytoplasm, cytosol. Note=In the cytosol, colocalizes with RNA:DNA hybrids with a speckled pattern. {ECO:0000269 PubMed:27019227}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for POLA1 gene
Compartment Confidence
nucleus 5
cytosol 5
mitochondrion 2
plasma membrane 1

Gene Ontology (GO) - Cellular Components for POLA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000785 colocalizes_with chromatin IDA 9815285
GO:0005634 nucleus IEA,IDA 4084590
GO:0005635 nuclear envelope IDA 9518481
GO:0005654 nucleoplasm IDA,TAS --
GO:0005658 alpha DNA polymerase:primase complex TAS 2243771
genes like me logo Genes that share ontologies with POLA1: view

Pathways & Interactions for POLA1 Gene

genes like me logo Genes that share pathways with POLA1: view

Gene Ontology (GO) - Biological Process for POLA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000082 G1/S transition of mitotic cell cycle TAS --
GO:0000083 regulation of transcription involved in G1/S transition of mitotic cell cycle TAS --
GO:0000722 telomere maintenance via recombination TAS --
GO:0000731 NOT DNA synthesis involved in DNA repair IMP 1508673
GO:0006260 DNA replication IMP,IEA 3917431
genes like me logo Genes that share ontologies with POLA1: view

No data available for SIGNOR curated interactions for POLA1 Gene

Drugs & Compounds for POLA1 Gene

Products:

  1. Drug

(14) Drugs for POLA1 Gene - From: DrugBank, ApexBio, DGIdb, FDA Approved Drugs, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Clofarabine Approved, Investigational Pharma inhibitor, binder, Target Antimetabolite,inhibit DNA polymerase and ribonucleotide reductase 159
Fludarabine Approved Pharma inhibitor, Target DNA synthsis inhibitor 1154,1154
Nelarabine Approved, Investigational Pharma binder, Target, inhibitor Prodrug of ara-G for T-LBL/T-ALL 0
Cladribine Approved, Investigational Pharma Target, inhibitor Apoptosis inducer in CLL cells 73
Cytarabine Approved, Investigational Pharma 1117

(2) Additional Compounds for POLA1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pyrophosphate
  • (4-)Diphosphoric acid ion
  • (P2O74-)Diphosphate
  • Diphosphate
  • Diphosphoric acid
  • PPi
 14000-31-8
Thymidine 5'-triphosphate
  • 2'-Deoxythymidine 5'-triphosphate
  • 2'-Deoxythymidine triphosphate
  • 5'-TTP
  • 5-Methyl-dUTP
  • Deoxy-TTP
 365-08-2

(4) ApexBio Compounds for POLA1 Gene

Compound Action Cas Number
Clofarabine Antimetabolite,inhibit DNA polymerase and ribonucleotide reductase 123318-82-1
Cytarabine 147-94-4
Fludarabine Phosphate (Fludara) Inhibits STAT1 activation and DNA synthesis 75607-67-9
Vitamin D2 (Ergocalciferol) DNA Polymerase inhibitor 50-14-6
genes like me logo Genes that share compounds with POLA1: view

Drug Products

Transcripts for POLA1 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

mRNA/cDNA for POLA1 Gene

(9) REFSEQ mRNAs :
(2) Additional mRNA sequences :
(62) Selected AceView cDNA sequences:
(6) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for POLA1 Gene

Polymerase (DNA directed), alpha 1, catalytic subunit:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for POLA1 Gene

No ASD Table

Relevant External Links for POLA1 Gene

GeneLoc Exon Structure for
POLA1
ECgene alternative splicing isoforms for
POLA1

Expression for POLA1 Gene

Products:

  1. Primer

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for POLA1 Gene

mRNA expression in normal human tissues for POLA1 Gene
mRNA expression by BioGPS for POLA1 GenemRNA expression by GTEx for POLA1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for POLA1 Gene

This gene is overexpressed in Breast (29.5), Heart (22.3), and Plasma (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for POLA1 Gene



NURSA nuclear receptor signaling pathways regulating expression of POLA1 Gene:

POLA1

SOURCE GeneReport for Unigene cluster for POLA1 Gene:

Hs.567319

Phenotype-based relationships between genes and organs from Gene ORGANizer for POLA1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • skeletal muscle
  • urinary
Organs:
Head and neck:
  • brain
  • cranial nerve
  • ear
  • eye
  • head
Pelvis:
  • penis
  • testicle
  • urethra
General:
  • blood
  • bone marrow
  • peripheral nervous system
  • skin
  • spinal cord
  • white blood cell
genes like me logo Genes that share expression patterns with POLA1: view

Primer Products

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Evidence on tissue expression from TISSUES for POLA1 Gene

Orthologs for POLA1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for POLA1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia POLA1 34 35
  • 98.79 (n)
dog
(Canis familiaris)
 Mammalia POLA1 34 35
  • 92.03 (n)
cow
(Bos Taurus)
 Mammalia POLA1 34 35
  • 90.99 (n)
rat
(Rattus norvegicus)
 Mammalia Pola1 34
  • 89.73 (n)
mouse
(Mus musculus)
 Mammalia Pola1 34 16 35
  • 89.06 (n)
oppossum
(Monodelphis domestica)
 Mammalia POLA1 35
  • 81 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves POLA1 34 35
  • 75.63 (n)
lizard
(Anolis carolinensis)
 Reptilia POLA1 35
  • 73 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia pola1 34
  • 70.68 (n)
Str.19655 34
African clawed frog
(Xenopus laevis)
 Amphibia LOC398200 34
zebrafish
(Danio rerio)
 Actinopterygii pola1 34 35
  • 67.55 (n)
mpzf637-2-001461 34
fruit fly
(Drosophila melanogaster)
 Insecta DNApol-alpha180 35 34
  • 50.36 (n)
 OneToOne
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP001929 34
  • 49.73 (n)
worm
(Caenorhabditis elegans)
 Secernentea Y47D3A.29 34 35
  • 49.43 (n)
baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes POL1 34 35 37
  • 49.12 (n)
A. gosspyii yeast
(Ashbya gossypii)
 Saccharomycetes AGOS_AER381C 34
  • 48.17 (n)
K. lactis yeast
(Kluyveromyces lactis)
 Saccharomycetes KLLA0C13255g 34
  • 46.72 (n)
thale cress
(Arabidopsis thaliana)
 eudicotyledons ICU2 34
  • 50.94 (n)
rice
(Oryza sativa)
 Liliopsida Os01g0868300 34
  • 51.71 (n)
Os.47313 34
sea squirt
(Ciona savignyi)
 Ascidiacea CSA.7288 35
  • 50 (a)
 OneToOne
fission yeast
(Schizosaccharomyces pombe)
 Schizosaccharomycetes pol1 34
  • 48.91 (n)
bread mold
(Neurospora crassa)
 Ascomycetes NCU07870 34
  • 46.45 (n)
sea squirt
(Ciona intestinalis)
 Ascidiacea Cin.10716 34
Species where no ortholog for POLA1 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for POLA1 Gene

ENSEMBL:
Gene Tree for POLA1 (if available)
TreeFam:
Gene Tree for POLA1 (if available)

Paralogs for POLA1 Gene

No data available for Paralogs for POLA1 Gene

Variants for POLA1 Gene

Sequence variations from dbSNP and Humsavar for POLA1 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
rs869312979 Pathogenic 24,726,579(+) TTTCA(A/G)TGAGT intron-variant
rs1000011455 -- 24,820,446(+) TGGGT(A/G)TCCCC intron-variant
rs1000021655 -- 24,759,534(+) AGGTC(A/T)TGATA intron-variant
rs1000040035 -- 24,765,825(+) AATGT(C/G)TGCCC intron-variant
rs1000081341 -- 24,707,308(+) CTTCT(C/G)AAAGA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for POLA1 Gene

Variant ID Type Subtype PubMed ID
esv2146318 CNV deletion 18987734
esv2672026 CNV deletion 23128226
esv2675627 CNV deletion 23128226
esv2740014 CNV deletion 23290073
esv3558714 CNV deletion 23714750
nsv517960 CNV gain 19592680

Variation tolerance for POLA1 Gene

Residual Variation Intolerance Score: 16.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.60; 30.81% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for POLA1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
POLA1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for POLA1 Gene

Disorders for POLA1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for POLA1 Gene - From: OMIM, ClinVar, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
pigmentary disorder, reticulate, with systemic manifestations
  • x-linked reticulate pigmentary disorder
n syndrome
  • nsx
macular degeneration, age-related, 1
  • macular degeneration, age-related, reduced risk of
- elite association - COSMIC cancer census association via MalaCards
Search POLA1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

DPOLA_HUMAN
  • Pigmentary disorder, reticulate, with systemic manifestations, X-linked (PDR) [MIM:301220]: A X-linked recessive disorder characterized by recurrent infections and sterile inflammation in various organs. Diffuse skin hyperpigmentation with a distinctive reticulate pattern is universally evident by early childhood. This is later followed in many patients by hypohidrosis, corneal inflammation and scarring, enterocolitis that resembles inflammatory bowel disease, and recurrent urethral strictures. Melanin and amyloid deposition is present in the dermis. Affected males also have a characteristic facies with frontally upswept hair and flared eyebrows. Female carriers have only restricted pigmentary changes along Blaschkos lines. {ECO:0000269 PubMed:27019227}. Note=The disease is caused by mutations affecting the gene represented in this entry. XLPDR is caused by a recurrent intronic mutation that results in missplicing and reduced POLA1 expression. This leads to a decrease in cytosolic RNA:DNA hybrids and constitutive activation of type I interferon responses, but has no effect on cell replication. {ECO:0000269 PubMed:27019227}.

Relevant External Links for POLA1

Genetic Association Database (GAD)
POLA1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
POLA1
genes like me logo Genes that share disorders with POLA1: view

No data available for Genatlas for POLA1 Gene

Publications for POLA1 Gene

  1. DNA polymerase-I+ regulates the activation of type I interferons through cytosolic RNA:DNA synthesis. (PMID: 27019227) Starokadomskyy P. … Burstein E. (Nat. Immunol. 2016) 3 4 64
  2. Physical interactions between Mcm10, DNA, and DNA polymerase alpha. (PMID: 19608746) Warren E.M. … Eichman B.F. (J. Biol. Chem. 2009) 3 4 64
  3. Nuclear magnetic resonance structures of the zinc finger domain of human DNA polymerase-alpha. (PMID: 14499601) Evanics F. … Bose R.N. (Biochim. Biophys. Acta 2003) 3 4 64
  4. Functional association of poly(ADP-ribose) polymerase with DNA polymerase alpha-primase complex: a link between DNA strand break detection and DNA replication. (PMID: 9518481) Dantzer F. … Menissier-de Murcia J. (Nucleic Acids Res. 1998) 3 4 64
  5. Interaction of herpes simplex virus 1 origin-binding protein with DNA polymerase alpha. (PMID: 7644508) Lee S.S. … Lehman I.R. (Proc. Natl. Acad. Sci. U.S.A. 1995) 3 4 64

Products for POLA1 Gene

Sources for POLA1 Gene

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