• Gene id: 5422

Gene Summary

• Gene Symbol: POLA1   Gene   UCSC   Ensembl
• Aliases: NSX, POLA, VEODS, p180
• Gene name: DNA polymerase alpha 1, catalytic subunit
• Alternate names: DNA polymerase alpha catalytic subunit, DNA polymerase alpha catalytic subunit p180, polymerase (DNA directed), alpha 1, catalytic subunit, polymerase (DNA) alpha 1, catalytic subunit, polymerase (DNA-directed), alpha (70kD),
• Gene location: Xp22.11-p21.3 (24693876: 24996985)     Exons: 43     NC_000023.11
• Gene summary(Entrez): 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
• OMIM: 604301

Protein Summary

• Protein general information: P09884  
  • Name: DNA polymerase alpha catalytic subunit (EC 2.7.7.7) (DNA polymerase alpha catalytic subunit p180)
  • Length: 1462  
  • Mass: 165913
• Sequence:

  MAPVHGDDSLSDSGSFVSSRARREKKSKKGRQEALERLKKAKAGEKYKYEVEDFTGVYEEVDEEQYSKLVQARQD
  DDWIVDDDGIGYVEDGREIFDDDLEDDALDADEKGKDGKARNKDKRNVKKLAVTKPNNIKSMFIACAGKKTADKA
  VDLSKDGLLGDILQDLNTETPQITPPPVMILKKKRSIGASPNPFSVHTATAVPSGKIASPVSRKEPPLTPVPLKR
  AEFAGDDVQVESTEEEQESGAMEFEDGDFDEPMEVEEVDLEPMAAKAWDKESEPAEEVKQEADSGKGTVSYLGSF
  LPDVSCWDIDQEGDSSFSVQEVQVDSSHLPLVKGADEEQVFHFYWLDAYEDQYNQPGVVFLFGKVWIESAETHVS
  CCVMVKNIERTLYFLPREMKIDLNTGKETGTPISMKDVYEEFDEKIATKYKIMKFKSKPVEKNYAFEIPDVPEKS
  EYLEVKYSAEMPQLPQDLKGETFSHVFGTNTSSLELFLMNRKIKGPCWLEVKSPQLLNQPVSWCKVEAMALKPDL
  VNVIKDVSPPPLVVMAFSMKTMQNAKNHQNEIIAMAALVHHSFALDKAAPKPPFQSHFCVVSKPKDCIFPYAFKE
  VIEKKNVKVEVAATERTLLGFFLAKVHKIDPDIIVGHNIYGFELEVLLQRINVCKAPHWSKIGRLKRSNMPKLGG
  RSGFGERNATCGRMICDVEISAKELIRCKSYHLSELVQQILKTERVVIPMENIQNMYSESSQLLYLLEHTWKDAK
  FILQIMCELNVLPLALQITNIAGNIMSRTLMGGRSERNEFLLLHAFYENNYIVPDKQIFRKPQQKLGDEDEEIDG
  DTNKYKKGRKKAAYAGGLVLDPKVGFYDKFILLLDFNSLYPSIIQEFNICFTTVQRVASEAQKVTEDGEQEQIPE
  LPDPSLEMGILPREIRKLVERRKQVKQLMKQQDLNPDLILQYDIRQKALKLTANSMYGCLGFSYSRFYAKPLAAL
  VTYKGREILMHTKEMVQKMNLEVIYGDTDSIMINTNSTNLEEVFKLGNKVKSEVNKLYKLLEIDIDGVFKSLLLL
  KKKKYAALVVEPTSDGNYVTKQELKGLDIVRRDWCDLAKDTGNFVIGQILSDQSRDTIVENIQKRLIEIGENVLN
  GSVPVSQFEINKALTKDPQDYPDKKSLPHVHVALWINSQGGRKVKAGDTVSYVICQDGSNLTASQRAYAPEQLQK
  QDNLTIDTQYYLAQQIHPVVARICEPIDGIDAVLIATWLGLDPTQFRVHHYHKDEENDALLGGPAQLTDEEKYRD
  CERFKCPCPTCGTENIYDNVFDGSGTDMEPSLYRCSNIDCKASPLTFTVQLSNKLIMDIRRFIKKYYDGWLICEE
  PTCRNRTRHLPLQFSRTGPLCPACMKATLQPEYSDKSLYTQLCFYRYIFDAECALEKLTTDHEKDKLKKQFFTPK
  VLQDYRKLKNTAEQFLSRSGYSEVNLSKLFAGCAVKS

• Structural information:
  • Interpro: IPR006172  IPR017964  IPR006133  IPR006134  IPR024647   IPR042087  IPR023211  IPR038256  IPR012337  IPR036397  IPR015088  
  • Prosite: PS00116
  • PDB: 1K0P 1K18 1N5G 4Q5V 4QCL 4Y97 5EXR 5IUD 6AS7
  • PDBsum: 1K0P 1K18 1N5G 4Q5V 4QCL 4Y97 5EXR 5IUD 6AS7
  • STRING: ENSP00000368349
• Other Databases: GeneCards:  POLA1  Malacards:  POLA1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003697	single-stranded DNA binding	IBA	molecular function
GO:0003887	DNA-directed DNA polymerase activity	IBA	molecular function
GO:0005658	alpha DNA polymerase:primase complex	IBA	cellular component
GO:0006272	leading strand elongation	IBA	biological process
GO:0006273	lagging strand elongation	IBA	biological process
GO:0019103	pyrimidine nucleotide binding	IBA	molecular function
GO:1902975	mitotic DNA replication initiation	IBA	biological process
GO:0003682	chromatin binding	IBA	molecular function
GO:0003688	DNA replication origin binding	IBA	molecular function
GO:0017076	purine nucleotide binding	IBA	molecular function
GO:0005829	cytosol	IDA	cellular component
GO:0006269	DNA replication, synthesis of RNA primer	IDA	biological process
GO:0006260	DNA replication	IMP	biological process
GO:0032479	regulation of type I interferon production	IMP	biological process
GO:0006260	DNA replication	IEA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0003676	nucleic acid binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0003887	DNA-directed DNA polymerase activity	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0016779	nucleotidyltransferase activity	IEA	molecular function
GO:0051539	4 iron, 4 sulfur cluster binding	IEA	molecular function
GO:0006260	DNA replication	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0051536	iron-sulfur cluster binding	IEA	molecular function
GO:0016032	viral process	IEA	biological process
GO:0003887	DNA-directed DNA polymerase activity	IEA	molecular function
GO:0003887	DNA-directed DNA polymerase activity	IEA	molecular function
GO:0005658	alpha DNA polymerase:primase complex	IDA	cellular component
GO:0000083	regulation of transcription involved in G1/S transition of mitotic cell cycle	TAS	biological process
GO:0006270	DNA replication initiation	TAS	biological process
GO:0000082	G1/S transition of mitotic cell cycle	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0032201	telomere maintenance via semi-conservative replication	TAS	biological process
GO:0032201	telomere maintenance via semi-conservative replication	TAS	biological process
GO:0032201	telomere maintenance via semi-conservative replication	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005829	cytosol	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0016363	nuclear matrix	IDA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0006269	DNA replication, synthesis of RNA primer	IDA	biological process
GO:0003682	chromatin binding	IDA	molecular function
GO:0006273	lagging strand elongation	IDA	biological process
GO:0006272	leading strand elongation	IDA	biological process
GO:0006270	DNA replication initiation	IDA	biological process
GO:0005635	nuclear envelope	IDA	cellular component
GO:0003887	DNA-directed DNA polymerase activity	IDA	molecular function
GO:0003677	DNA binding	IDA	molecular function
GO:0006281	DNA repair	IDA	NOT|biological process
GO:0006273	lagging strand elongation	IDA	biological process
GO:0006272	leading strand elongation	IDA	biological process
GO:0005658	alpha DNA polymerase:primase complex	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0003887	DNA-directed DNA polymerase activity	IDA	molecular function
GO:0000785	chromatin	IDA	colocalizes with
GO:0000166	nucleotide binding	IDA	molecular function
GO:0019901	protein kinase binding	IPI	molecular function
GO:0000731	DNA synthesis involved in DNA repair	IMP	biological process
GO:0006271	DNA strand elongation involved in DNA replication	IMP	biological process
GO:0006260	DNA replication	IMP	biological process
GO:0006260	DNA replication	IMP	biological process
GO:0006289	nucleotide-excision repair	IMP	NOT|biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0006281	DNA repair	IMP	biological process
GO:0006303	double-strand break repair via nonhomologous end joining	IMP	biological process
GO:0006260	DNA replication	IMP	biological process
GO:1904161	DNA synthesis involved in UV-damage excision repair	IMP	NOT|biological process
GO:0005658	alpha DNA polymerase:primase complex	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0003887	DNA-directed DNA polymerase activity	IMP	molecular function

KEGG pathways

Pathway id	Pathway name
hsa03030	DNA replication

Diseases

Associated diseases	References
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray