InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: RIMS1

Summary

InnateDB Protein

IDBP-92172.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

RIMS1

Protein Name

regulating synaptic membrane exocytosis 1

Synonyms

CORD7; RAB3IP2; RIM; RIM1;

Species

Homo sapiens

Ensembl Protein

ENSP00000264839

InnateDB Gene

IDBG-92166 (RIMS1)

Protein Structure

UniProt Annotation

Function

Rab effector involved in exocytosis. May act as scaffold protein that regulates neurotransmitter release at the active zone. Essential for maintaining normal probability of neurotransmitter release and for regulating release during short- term synaptic plasticity (By similarity). {ECO:0000250}.

Subcellular Localization

Cell membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}. Cell junction, synapse {ECO:0000250}. Cell junction, synapse, presynaptic cell membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}.

Disease Associations

Cone-rod dystrophy 7 (CORD7) [MIM:603649]: An inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa. {ECO:0000269PubMed:12659814}. Note=The disease may be caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Detected in brain and retina.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 18 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.

Experimentally validated
Total	18 [view]
Protein-Protein	18 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	3 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005083	small GTPase regulator activity
GO:0005515	protein binding
GO:0017137	Rab GTPase binding
GO:0044822	poly(A) RNA binding
GO:0046872	metal ion binding

Biological Process

GO:0006461	protein complex assembly
GO:0006886	intracellular protein transport
GO:0007268	synaptic transmission
GO:0007269	neurotransmitter secretion
GO:0007601	visual perception
GO:0014047	glutamate secretion
GO:0016079	synaptic vesicle exocytosis
GO:0017156	calcium ion-dependent exocytosis
GO:0045055	regulated secretory pathway
GO:0046903	secretion
GO:0050790	regulation of catalytic activity
GO:0050896	response to stimulus
GO:0061025	membrane fusion