Entity Details

Primary name RIMS1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ86UR5
EntryNameRIMS1_HUMAN
FullNameRegulating synaptic membrane exocytosis protein 1
TaxID9606
Evidenceevidence at protein level
Length1692
SequenceStatuscomplete
DateCreated2003-08-29
DateModified2021-06-02

Ontological Relatives

GenesRIMS1

GO terms

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GOName
GO:0003723 RNA binding
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0006836 neurotransmitter transport
GO:0006886 intracellular protein transport
GO:0007269 neurotransmitter secretion
GO:0007601 visual perception
GO:0010628 positive regulation of gene expression
GO:0016079 synaptic vesicle exocytosis
GO:0017156 calcium-ion regulated exocytosis
GO:0030154 cell differentiation
GO:0030695 GTPase regulator activity
GO:0031267 small GTPase binding
GO:0042391 regulation of membrane potential
GO:0042734 presynaptic membrane
GO:0042995 cell projection
GO:0044325 transmembrane transporter binding
GO:0045055 regulated exocytosis
GO:0046872 metal ion binding
GO:0046903 secretion
GO:0046928 regulation of neurotransmitter secretion
GO:0048167 regulation of synaptic plasticity
GO:0048786 presynaptic active zone
GO:0048788 cytoskeleton of presynaptic active zone
GO:0048791 calcium ion-regulated exocytosis of neurotransmitter
GO:0050806 positive regulation of synaptic transmission
GO:0050896 response to stimulus
GO:0060478 acrosomal vesicle exocytosis
GO:0061025 membrane fusion
GO:0065003 protein-containing complex assembly
GO:0097151 positive regulation of inhibitory postsynaptic potential
GO:1903861 positive regulation of dendrite extension
GO:2000300 regulation of synaptic vesicle exocytosis
GO:2000463 positive regulation of excitatory postsynaptic potential

Subcellular Location

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Subcellular Location
Cell junction
Cell membrane

Domains

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DomainNameCategoryType
IPR000008 C2 domainDomainDomain
IPR001478 PDZ domainDomainDomain
IPR010911 Rab-binding domainDomainDomain
IPR011011 Zinc finger, FYVE/PHD-typeFamilyHomologous superfamily
IPR017455 Zinc finger, FYVE-relatedDomainDomain
IPR035892 C2 domain superfamilyFamilyHomologous superfamily
IPR036034 PDZ superfamilyFamilyHomologous superfamily
IPR039032 Rim-likeFamilyFamily
IPR041282 FYVE-type zinc fingerDomainDomain

Diseases

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Disease IDSourceNameDescription
603649 OMIMCone-rod dystrophy 7 (CORD7)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, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors. The disease may be caused by variants affecting the gene represented in this entry.