Gene table of POLR1A : RNA polymerase I subunit A

Gene-disease associations table

Disease ID	Disease name	Source of annotation with POLR1A	OMIM link	Number of associated genes	genes
616462	ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	POLR1A

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
Negative epigenetic regulation of rRNA expression	R-HSA-5250941	6.75
Epigenetic regulation of gene expression	R-HSA-212165	6.46
RNA Polymerase I, RNA Polymerase III, and Mitochondrial Transcription	R-HSA-504046	6.16
RNA Polymerase I Promoter Escape	R-HSA-73772	8.08
RNA Polymerase I Transcription Initiation	R-HSA-73762	7.43
RNA Polymerase I Chain Elongation	R-HSA-73777	7.18
NoRC negatively regulates rRNA expression	R-HSA-427413	6.81
RNA Polymerase I Transcription	R-HSA-73864	6.72
RNA Polymerase I Promoter Clearance	R-HSA-73854	6.75
Gene Expression	R-HSA-74160	2.72
RNA Polymerase I Transcription Termination	R-HSA-73863	8.03

Associated GO terms for Molecular function

GO term	GO ID	GO IC
cation binding	GO:0043169	1.4
nucleotidyltransferase activity	GO:0016779	4.81
RNA polymerase I activity	GO:0001054	7.25
transition metal ion binding	GO:0046914	2.48
organic cyclic compound binding	GO:0097159	1.05
DNA binding	GO:0003677	1.92
RNA polymerase activity	GO:0034062	5.93
ion binding	GO:0043167	1.36
catalytic activity	GO:0003824	1.05
transferase activity	GO:0016740	1.95
binding	GO:0005488	0.18
protein binding	GO:0005515	0.46
transferase activity, transferring phosphorus-containing groups	GO:0016772	2.77
DNA-directed RNA polymerase activity	GO:0003899	5.98
metal ion binding	GO:0046872	1.41
heterocyclic compound binding	GO:1901363	1.06
nucleic acid binding	GO:0003676	1.44
zinc ion binding	GO:0008270	2.66