Gene table of STUB1 : STIP1 homology and U-box containing protein 1

Gene-disease associations table

Disease ID	Disease name	Source of annotation with STUB1	OMIM link	Number of associated genes	genes
615768	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	STUB1

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

KEGG pathway	KEGG ID	KEGG IC
Protein processing in endoplasmic reticulum	hsa04141	5.35
Ubiquitin mediated proteolysis	hsa04120	5.63

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
Signaling by TGF-beta Receptor Complex	R-HSA-170834	6.81
Immune System	R-HSA-168256	2.37
Class I MHC mediated antigen processing & presentation	R-HSA-983169	4.65
Antigen processing: Ubiquitination & Proteasome degradation	R-HSA-983168	5.19
TGF-beta receptor signaling activates SMADs	R-HSA-2173789	7.98
Downregulation of TGF-beta receptor signaling	R-HSA-2173788	8.28
Signaling by ERBB2	R-HSA-1227986	4.66
Adaptive Immune System	R-HSA-1280218	3.19
Signal Transduction	R-HSA-162582	1.78

Associated GO terms for Molecular function

GO term	GO ID	GO IC
ubiquitin-like protein ligase binding	GO:0044389	4.15
ubiquitin protein ligase activity involved in ERAD pathway	GO:1904264	7.54
heat shock protein binding	GO:0031072	5.24
enzyme binding	GO:0019899	2.27
binding	GO:0005488	0.18
G-protein coupled receptor binding	GO:0001664	4.18
ubiquitin-like protein transferase activity	GO:0019787	3.69
Hsp70 protein binding	GO:0030544	6.37
ubiquitin-protein transferase activity	GO:0004842	3.73
TPR domain binding	GO:0030911	8.13
transferase activity	GO:0016740	1.95
binding, bridging	GO:0060090	4.57
Hsp90 protein binding	GO:0051879	6.37
identical protein binding	GO:0042802	2.63
protein homodimerization activity	GO:0042803	3.16
ubiquitin-ubiquitin ligase activity	GO:0034450	7.17
SMAD binding	GO:0046332	5.45
catalytic activity	GO:0003824	1.05
protein domain specific binding	GO:0019904	3.32
ubiquitin protein ligase activity	GO:0061630	4.47
receptor binding	GO:0005102	2.43
ubiquitin-like protein ligase activity	GO:0061659	4.44
protein binding, bridging	GO:0030674	4.68
ubiquitin protein ligase binding	GO:0031625	4.17
kinase binding	GO:0019900	3.32
misfolded protein binding	GO:0051787	7.25
protein binding	GO:0005515	0.46
protein dimerization activity	GO:0046983	2.72
ligase activity	GO:0016874	3.72