• Gene id: 5424

Gene Summary

• Gene Symbol: POLD1   Gene   UCSC   Ensembl
• Aliases: CDC2, CRCS10, MDPL, POLD
• Gene name: DNA polymerase delta 1, catalytic subunit
• Alternate names: DNA polymerase delta catalytic subunit, 3'-5' exodeoxyribonuclease, CDC2 homolog, DNA polymerase subunit delta p125, polymerase (DNA directed), delta 1, catalytic subunit 125kDa, polymerase (DNA) delta 1, catalytic subunit,
• Gene location: 19q13.33 (50384290: 50418017)     Exons: 30     NC_000019.10
• Gene summary(Entrez): This gene encodes the 125-kDa catalytic subunit of DNA polymerase delta. DNA polymerase delta possesses both polymerase and 3' to 5' exonuclease activity and plays a critical role in DNA replication and repair. Alternatively spliced transcript variants ha
• OMIM: 180660

Protein Summary

• Protein general information: P28340  
  • Name: DNA polymerase delta catalytic subunit (EC 2.7.7.7) (3' 5' exodeoxyribonuclease) (EC 3.1.11. ) (DNA polymerase subunit delta p125)
  • Length: 1107  
  • Mass: 123631
  • Tissue specificity: Widely expressed, with high levels of expression in heart and lung. {ECO
• Sequence:

  MDGKRRPGPGPGVPPKRARGGLWDDDDAPRPSQFEEDLALMEEMEAEHRLQEQEEEELQSVLEGVADGQVPPSAI
  DPRWLRPTPPALDPQTEPLIFQQLEIDHYVGPAQPVPGGPPPSRGSVPVLRAFGVTDEGFSVCCHIHGFAPYFYT
  PAPPGFGPEHMGDLQRELNLAISRDSRGGRELTGPAVLAVELCSRESMFGYHGHGPSPFLRITVALPRLVAPARR
  LLEQGIRVAGLGTPSFAPYEANVDFEIRFMVDTDIVGCNWLELPAGKYALRLKEKATQCQLEADVLWSDVVSHPP
  EGPWQRIAPLRVLSFDIECAGRKGIFPEPERDPVIQICSLGLRWGEPEPFLRLALTLRPCAPILGAKVQSYEKEE
  DLLQAWSTFIRIMDPDVITGYNIQNFDLPYLISRAQTLKVQTFPFLGRVAGLCSNIRDSSFQSKQTGRRDTKVVS
  MVGRVQMDMLQVLLREYKLRSYTLNAVSFHFLGEQKEDVQHSIITDLQNGNDQTRRRLAVYCLKDAYLPLRLLER
  LMVLVNAVEMARVTGVPLSYLLSRGQQVKVVSQLLRQAMHEGLLMPVVKSEGGEDYTGATVIEPLKGYYDVPIAT
  LDFSSLYPSIMMAHNLCYTTLLRPGTAQKLGLTEDQFIRTPTGDEFVKTSVRKGLLPQILENLLSARKRAKAELA
  KETDPLRRQVLDGRQLALKVSANSVYGFTGAQVGKLPCLEISQSVTGFGRQMIEKTKQLVESKYTVENGYSTSAK
  VVYGDTDSVMCRFGVSSVAEAMALGREAADWVSGHFPSPIRLEFEKVYFPYLLISKKRYAGLLFSSRPDAHDRMD
  CKGLEAVRRDNCPLVANLVTASLRRLLIDRDPEGAVAHAQDVISDLLCNRIDISQLVITKELTRAASDYAGKQAH
  VELAERMRKRDPGSAPSLGDRVPYVIISAAKGVAAYMKSEDPLFVLEHSLPIDTQYYLEQQLAKPLLRIFEPILG
  EGRAEAVLLRGDHTRCKTVLTGKVGGLLAFAKRRNCCIGCRTVLSHQGAVCEFCQPRESELYQKEVSHLNALEER
  FSRLWTQCQRCQGSLHEDVICTSRDCPIFYMRKKVRKDLEDQEQLLRRFGPPGPEAW

• Structural information:
  • Interpro: IPR006172  IPR017964  IPR006133  IPR006134  IPR042087   IPR023211  IPR012337  IPR036397  IPR025687  
  • Prosite: PS00116
  • PDB: 6S1M 6S1N 6S1O 6TNY 6TNZ
  • PDBsum: 6S1M 6S1N 6S1O 6TNY 6TNZ
  • STRING: ENSP00000406046
• Other Databases: GeneCards:  POLD1  Malacards:  POLD1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003887	DNA-directed DNA polymerase activity	IBA	molecular function
GO:0006261	DNA-dependent DNA replication	IBA	biological process
GO:0045004	DNA replication proofreading	IBA	biological process
GO:0006287	base-excision repair, gap-filling	IBA	biological process
GO:0006297	nucleotide-excision repair, DNA gap filling	IBA	biological process
GO:0008296	3'-5'-exodeoxyribonuclease activity	IBA	molecular function
GO:0043625	delta DNA polymerase complex	IBA	cellular component
GO:0003682	chromatin binding	IDA	molecular function
GO:0034644	cellular response to UV	IDA	biological process
GO:0003684	damaged DNA binding	IDA	molecular function
GO:0000731	DNA synthesis involved in DNA repair	IDA	biological process
GO:0070987	error-free translesion synthesis	IDA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0055089	fatty acid homeostasis	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
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:0051539	4 iron, 4 sulfur cluster binding	IEA	molecular function
GO:0006260	DNA replication	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0016779	nucleotidyltransferase activity	IEA	molecular function
GO:0006281	DNA repair	IEA	biological process
GO:0004518	nuclease activity	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0006281	DNA repair	IEA	biological process
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0004527	exonuclease activity	IEA	molecular function
GO:0003887	DNA-directed DNA polymerase activity	IEA	molecular function
GO:0051536	iron-sulfur cluster binding	IEA	molecular function
GO:0003677	DNA binding	TAS	molecular function
GO:0003887	DNA-directed DNA polymerase activity	TAS	molecular function
GO:0009411	response to UV	TAS	biological process
GO:0006260	DNA replication	TAS	biological process
GO:0006281	DNA repair	TAS	biological process
GO:0003887	DNA-directed DNA polymerase activity	IEA	molecular function
GO:0043625	delta DNA polymerase complex	IDA	cellular component
GO:0006283	transcription-coupled nucleotide-excision repair	TAS	biological process
GO:0033683	nucleotide-excision repair, DNA incision	TAS	biological process
GO:0000723	telomere maintenance	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: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:0006296	nucleotide-excision repair, DNA incision, 5'-to lesion	TAS	biological process
GO:0006297	nucleotide-excision repair, DNA gap filling	TAS	biological process
GO:0006298	mismatch repair	TAS	biological process
GO:0006298	mismatch repair	TAS	biological process
GO:0019985	translesion synthesis	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: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:0032201	telomere maintenance via semi-conservative replication	TAS	biological process
GO:0042769	DNA damage response, detection of DNA damage	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: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: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:0005515	protein binding	IPI	molecular function
GO:0000784	nuclear chromosome, telomeric region	IDA	colocalizes with
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0016235	aggresome	IDA	cellular component
GO:0043625	delta DNA polymerase complex	IDA	cellular component
GO:0006297	nucleotide-excision repair, DNA gap filling	IC	biological process
GO:0006287	base-excision repair, gap-filling	IDA	biological process
GO:0006287	base-excision repair, gap-filling	IDA	biological process
GO:0000731	DNA synthesis involved in DNA repair	IDA	biological process
GO:0071897	DNA biosynthetic process	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0003682	chromatin binding	IDA	molecular function
GO:0003677	DNA binding	IDA	molecular function
GO:0000109	nucleotide-excision repair complex	IDA	cellular component
GO:0016020	membrane	HDA	cellular component
GO:0006297	nucleotide-excision repair, DNA gap filling	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0003887	DNA-directed DNA polymerase activity	IMP	molecular function
GO:0006260	DNA replication	IMP	biological process
GO:0000731	DNA synthesis involved in DNA repair	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa03420	Nucleotide excision repair
hsa03440	Homologous recombination
hsa03030	DNA replication
hsa03410	Base excision repair
hsa03430	Mismatch repair

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray