Gene table of UBR1 : ubiquitin protein ligase E3 component n-recognin 1

Gene-disease associations table

Disease ID	Disease name	Source of annotation with UBR1	OMIM link	Number of associated genes	genes
243800	JOHANSON-BLIZZARD SYNDROME	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	UBR1

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
Class I MHC mediated antigen processing & presentation	R-HSA-983169	4.65
Antigen processing: Ubiquitination & Proteasome degradation	R-HSA-983168	5.19
Immune System	R-HSA-168256	2.37
Adaptive Immune System	R-HSA-1280218	3.19

Associated GO terms for Molecular function

GO term	GO ID	GO IC
ubiquitin-like protein transferase activity	GO:0019787	3.69
anion binding	GO:0043168	4.17
transition metal ion binding	GO:0046914	2.48
cation binding	GO:0043169	1.4
leucine binding	GO:0070728	7.95
amino acid binding	GO:0016597	5.71
ubiquitin protein ligase activity	GO:0061630	4.47
carboxylic acid binding	GO:0031406	4.64
ion binding	GO:0043167	1.36
catalytic activity	GO:0003824	1.05
transferase activity	GO:0016740	1.95
ubiquitin-protein transferase activity	GO:0004842	3.73
binding	GO:0005488	0.18
ubiquitin-like protein ligase activity	GO:0061659	4.44
metal ion binding	GO:0046872	1.41
ligase activity	GO:0016874	3.72
zinc ion binding	GO:0008270	2.66