Gene table of POLA1 : DNA polymerase alpha 1, catalytic subunit

Gene-disease associations table

Disease ID	Disease name	Source of annotation with POLA1	OMIM link	Number of associated genes	genes
301220	PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS	ClinVar	link to OMIM	1	POLA1
310465	N SYNDROME	OMIM	link to OMIM	1	POLA1

Associated genes in ENSEMBL

Associated proteins - SwissProt Accession ID

Associated PDB IDs

Cytogenetic Band

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
DNA replication initiation	R-HSA-68952	10.4
Leading Strand Synthesis	R-HSA-69109	9.18
Cell Cycle	R-HSA-1640170	3.89
DNA strand elongation	R-HSA-69190	7.94
Cell Cycle, Mitotic	R-HSA-69278	4.16
Polymerase switching	R-HSA-69091	9.18
Inhibition of replication initiation of damaged DNA by RB1/E2F1	R-HSA-113501	9.4
Chromosome Maintenance	R-HSA-73886	6.56
Synthesis of DNA	R-HSA-69239	6.37
Mitotic G1-G1/S phases	R-HSA-453279	5.91
Activation of the pre-replicative complex	R-HSA-68962	8.08
Polymerase switching on the C-strand of the telomere	R-HSA-174411	9.18
Telomere C-strand (Lagging Strand) Synthesis	R-HSA-174417	8.46
Telomere Maintenance	R-HSA-157579	7.1
Telomere C-strand synthesis initiation	R-HSA-174430	10.4
Removal of the Flap Intermediate	R-HSA-69166	9.18
DNA Replication Pre-Initiation	R-HSA-69002	6.62
Lagging Strand Synthesis	R-HSA-69186	8.59
G1/S Transition	R-HSA-69206	6.21
G1/S-Specific Transcription	R-HSA-69205	8.89
Extension of Telomeres	R-HSA-180786	8.12
S Phase	R-HSA-69242	6.02
DNA Replication	R-HSA-69306	6.25
Processive synthesis on the lagging strand	R-HSA-69183	8.98
E2F mediated regulation of DNA replication	R-HSA-113510	7.94
M/G1 Transition	R-HSA-68874	6.62

Associated GO terms for Molecular function

GO term	GO ID	GO IC
RNA polymerase activity	GO:0034062	5.93
enzyme binding	GO:0019899	2.27
macromolecular complex binding	GO:0044877	2.61
binding	GO:0005488	0.18
nucleic acid binding	GO:0003676	1.44
DNA binding	GO:0003677	1.92
nucleotide binding	GO:0000166	1.96
heterocyclic compound binding	GO:1901363	1.06
nucleoside phosphate binding	GO:1901265	1.96
nucleoside binding	GO:0001882	2.21
cation binding	GO:0043169	1.4
3'-5' exonuclease activity	GO:0008408	5.83
metal cluster binding	GO:0051540	5.55
exonuclease activity	GO:0004527	5.33
ion binding	GO:0043167	1.36
DNA-directed DNA polymerase activity	GO:0003887	6.41
transferase activity	GO:0016740	1.95
metal ion binding	GO:0046872	1.41
hydrolase activity	GO:0016787	1.9
protein binding	GO:0005515	0.46
hydrolase activity, acting on ester bonds	GO:0016788	3.1
protein kinase binding	GO:0019901	3.44
catalytic activity	GO:0003824	1.05
DNA polymerase activity	GO:0034061	5.93
small molecule binding	GO:0036094	1.89
nucleotidyltransferase activity	GO:0016779	4.81
protein heterodimerization activity	GO:0046982	3.64
4 iron, 4 sulfur cluster binding	GO:0051539	6.0
kinase binding	GO:0019900	3.32
nuclease activity	GO:0004518	4.33
organic cyclic compound binding	GO:0097159	1.05
iron-sulfur cluster binding	GO:0051536	5.55
carbohydrate derivative binding	GO:0097367	2.03
DNA primase activity	GO:0003896	8.35
transferase activity, transferring phosphorus-containing groups	GO:0016772	2.77
DNA-directed RNA polymerase activity	GO:0003899	5.98
protein dimerization activity	GO:0046983	2.72
chromatin binding	GO:0003682	3.64