Gene table of RIMS1 : regulating synaptic membrane exocytosis 1

Gene-disease associations table

Disease ID	Disease name	Source of annotation with RIMS1	OMIM link	Number of associated genes	genes
603649	CONE-ROD DYSTROPHY 7	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	RIMS1

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
Synaptic vesicle cycle	hsa04721	6.74
Retrograde endocannabinoid signaling	hsa04723	6.03

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
Glutamate Neurotransmitter Release Cycle	R-HSA-210500	8.4
Norepinephrine Neurotransmitter Release Cycle	R-HSA-181430	8.81
GABA synthesis, release, reuptake and degradation	R-HSA-888590	8.73
Serotonin Neurotransmitter Release Cycle	R-HSA-181429	8.81
Dopamine Neurotransmitter Release Cycle	R-HSA-212676	8.46
Acetylcholine Neurotransmitter Release Cycle	R-HSA-264642	8.89
Neuronal System	R-HSA-112316	4.82
Transmission across Chemical Synapses	R-HSA-112315	5.28
Neurotransmitter Release Cycle	R-HSA-112310	7.34

Associated GO terms for Molecular function

GO term	GO ID	GO IC
cation binding	GO:0043169	1.4
metal ion binding	GO:0046872	1.41
protein binding	GO:0005515	0.46
GTPase regulator activity	GO:0030695	4.01
organic cyclic compound binding	GO:0097159	1.05
enzyme regulator activity	GO:0030234	2.85
heterocyclic compound binding	GO:1901363	1.06
Rab GTPase binding	GO:0017137	4.96
enzyme binding	GO:0019899	2.27
ion binding	GO:0043167	1.36
small GTPase binding	GO:0031267	4.13
GTPase binding	GO:0051020	4.05
binding	GO:0005488	0.18
nucleic acid binding	GO:0003676	1.44
RNA binding	GO:0003723	2.36
SH3 domain binding	GO:0017124	4.98
molecular function regulator	GO:0098772	2.51
nucleoside-triphosphatase regulator activity	GO:0060589	3.92
poly(A) RNA binding	GO:0044822	2.69
Ras GTPase binding	GO:0017016	4.2
protein domain specific binding	GO:0019904	3.32