Entity Details

Primary name DPOLA_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP09884
EntryNameDPOLA_HUMAN
FullNameDNA polymerase alpha catalytic subunit
TaxID9606
Evidenceevidence at protein level
Length1462
SequenceStatuscomplete
DateCreated1989-07-01
DateModified2021-06-02

Ontological Relatives

GenesPOLA1

GO terms

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GOName
GO:0000083 regulation of transcription involved in G1/S transition of mitotic cell cycle
GO:0000166 nucleotide binding
GO:0000731 DNA synthesis involved in DNA repair
GO:0003677 DNA binding
GO:0003682 chromatin binding
GO:0003688 DNA replication origin binding
GO:0003697 single-stranded DNA binding
GO:0003887 DNA-directed DNA polymerase activity
GO:0005634 nucleus
GO:0005635 nuclear envelope
GO:0005654 nucleoplasm
GO:0005658 alpha DNA polymerase:primase complex
GO:0005730 nucleolus
GO:0005829 cytosol
GO:0006260 DNA replication
GO:0006269 DNA replication, synthesis of RNA primer
GO:0006270 DNA replication initiation
GO:0006271 DNA strand elongation involved in DNA replication
GO:0006272 leading strand elongation
GO:0006273 lagging strand elongation
GO:0006281 DNA repair
GO:0006303 double-strand break repair via nonhomologous end joining
GO:0016032 viral process
GO:0016363 nuclear matrix
GO:0017076 purine nucleotide binding
GO:0019103 pyrimidine nucleotide binding
GO:0019901 protein kinase binding
GO:0032201 telomere maintenance via semi-conservative replication
GO:0032479 regulation of type I interferon production
GO:0046872 metal ion binding
GO:0051539 4 iron, 4 sulfur cluster binding
GO:1902975 mitotic DNA replication initiation

Subcellular Location

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Subcellular Location
Cytoplasm
Nucleus

Domains

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DomainNameCategoryType
IPR006133 DNA-directed DNA polymerase, family B, exonuclease domainDomainDomain
IPR006134 DNA-directed DNA polymerase, family B, multifunctional domainDomainDomain
IPR006172 DNA-directed DNA polymerase, family BFamilyFamily
IPR012337 Ribonuclease H-like superfamilyFamilyHomologous superfamily
IPR015088 Zinc finger, DNA-directed DNA polymerase, family B, alphaDomainDomain
IPR017964 DNA-directed DNA polymerase, family B, conserved siteSiteConserved site
IPR023211 DNA polymerase, palm domain superfamilyFamilyHomologous superfamily
IPR024647 DNA polymerase alpha catalytic subunit, N-terminal domainDomainDomain
IPR036397 Ribonuclease H superfamilyFamilyHomologous superfamily
IPR038256 DNA polymerase alpha, zinc finger domain superfamilyFamilyHomologous superfamily
IPR042087 DNA polymerase family B, thumb domainFamilyHomologous superfamily
IPR043502 DNA/RNA polymerase superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
301030 OMIMVan Esch-O'Driscoll syndrome (VEODS)An X-linked recessive syndrome characterized by different degrees of intellectual disability, moderate to severe short stature, microcephaly, hypogonadism, and variable congenital malformations. The disease is caused by variants affecting the gene represented in this entry.
301220 OMIMPigmentary disorder, reticulate, with systemic manifestations, X-linked (PDR)An 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 Blaschko's lines. The disease is caused by variants 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.

Drugs

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DrugNameSourceType
DB00242 CladribineDrugbanksmall molecule
DB00631 ClofarabineDrugbanksmall molecule
DB01073 FludarabineDrugbanksmall molecule
DB01280 NelarabineDrugbanksmall molecule

Interactions

29 interactions

InteractorPartnerSourcesPublicationsLink
DPOLA_HUMANDPOA2_HUMANBioGRID, HPRD, IntAct12138179 22863883 22939629 26344197 8223465 details
DPOLA_HUMANPRI2_HUMANBioGRID, IntAct12138179 22593576 22863883 22939629 28757209 details
DPOLA_HUMANRBMS1_HUMANBioGRID10869558 details
DPOLA_HUMANCDKA1_HUMANBioGRID, HPRD10877824 details
DPOLA_HUMANCDK2_HUMANBioGRID, HPRD10877824 11259605 details
DPOLA_HUMANCDC45_HUMANBioGRID, HPRD10518787 details
DPOLA_HUMANPARP1_HUMANBioGRID, HPRD9518481 9563011 details
DPOLA_HUMANHELB_HUMANBioGRID, HPRD12181327 details
DPOLA_HUMANSLD5_HUMANBioGRID21705323 details
DPOLA_HUMANCCNA2_HUMANBioGRID11259605 details
DPOLA_HUMANCCNB1_HUMANBioGRID11259605 details
DPOLA_HUMANCDK1_HUMANBioGRID, HPRD11259605 details
DPOLA_HUMANRAD51_HUMANBioGRID28757209 details
DPOLA_HUMANSUMO2_HUMANBioGRID32786267 details
DPOLA_HUMANPRI1_HUMANBioGRID, IntAct12138179 22593576 22939629 26344197 28514442 details
DPOLA_HUMANSMC1A_HUMANBioGRID, HPRD, IntAct16438930 details
DPOLA_HUMANRFA1_HUMANBioGRID, MINT17666013 24332808 details
DPOLA_HUMANH31_HUMANBioGRID, IntAct29568061 30104407 details
DPOLA_HUMANRB_HUMANBioGRID, HPRD9395244 details
DPOLA_HUMANXRCC5_HUMANBioGRID, HPRD12393188 details
DPOLA_HUMANP53_HUMANBioGRID, HPRD11917009 details
DPOLA_HUMANCHK1_HUMANBioGRID19177015 details
DPOLA_HUMANCCNE1_HUMANBioGRID11259605 details
DPOLA_HUMANPP2AA_HUMANBioGRID11259605 details
DPOLA_HUMAN2AAB_HUMANBioGRID11259605 details
DPOLA_HUMANMCM2_HUMANBioGRID11259605 details
DPOLA_HUMANDPOE1_HUMANBioGRID, HPRD26344197 9563011 details
DPOLA_HUMANH4_HUMANBioGRID30104407 details
DPOLA_HUMANAACT_HUMANHPRD3490907 details