Gene table of RBCK1 : RANBP2-type and C3HC4-type zinc finger containing 1

Gene-disease associations table

Disease ID	Disease name	Source of annotation with RBCK1	OMIM link	Number of associated genes	genes
PS615895	POLYGLUCOSAN BODY MYOPATHY	ClinVar, OMIM, HUMSAVAR	link to OMIM	2	GYG1, RBCK1

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
protein kinase C binding	GO:0005080	5.83
enzyme binding	GO:0019899	2.27
binding	GO:0005488	0.18
nucleic acid binding	GO:0003676	1.44
DNA binding	GO:0003677	1.92
heterocyclic compound binding	GO:1901363	1.06
ubiquitin-like protein transferase activity	GO:0019787	3.69
cation binding	GO:0043169	1.4
transition metal ion binding	GO:0046914	2.48
ligase activity	GO:0016874	3.72
zinc ion binding	GO:0008270	2.66
ion binding	GO:0043167	1.36
transferase activity	GO:0016740	1.95
double-stranded DNA binding	GO:0003690	3.09
metal ion binding	GO:0046872	1.41
protein kinase binding	GO:0019901	3.44
catalytic activity	GO:0003824	1.05
ubiquitin-protein transferase activity	GO:0004842	3.73
kinase binding	GO:0019900	3.32
transcription factor activity, sequence-specific DNA binding	GO:0003700	2.65
organic cyclic compound binding	GO:0097159	1.05
ubiquitin-like protein binding	GO:0032182	4.93
ubiquitin binding	GO:0043130	5.09
protein binding	GO:0005515	0.46
nucleic acid binding transcription factor activity	GO:0001071	2.65