RIMS3 regulating synaptic membrane exocytosis 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: RIMS3provided by HGNC
Official Full Name: regulating synaptic membrane exocytosis 3provided by HGNC
Primary source: HGNC:HGNC:21292
See related: Ensembl:ENSG00000117016 MIM:611600; AllianceGenome:HGNC:21292
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: NIM3; RIM3; RIM 3
Summary: Predicted to enable transmembrane transporter binding activity. Predicted to be involved in several processes, including calcium ion-regulated exocytosis of neurotransmitter; modulation of chemical synaptic transmission; and regulation of synapse organization. Predicted to be located in presynaptic active zone. Predicted to be active in several cellular components, including cytoskeleton of presynaptic active zone; postsynaptic cytosol; and presynaptic membrane. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Biased expression in brain (RPKM 26.0), adrenal (RPKM 4.0) and 9 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1p34.2

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (40620680..40692066, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (40489861..40544972, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (41086352..41131354, complement)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

We identified four novel CNVs in three different genes (one duplication in USH2A gene, two duplications in CEP290 gene, and one duplication in RIMS2 gene) in total four families, at a detection rate of 8% (4/50).
Title: Genome-Wide Detection of Copy Number Variations in Unsolved Inherited Retinal Disease.
Observational study of gene-disease association. (HuGE Navigator)
Title: A de novo 1p34.2 microdeletion identifies the synaptic vesicle gene RIMS3 as a novel candidate for autism.
Western blot analysis shows increased piccolo protein expression in the amygdala in schizophrenia.
Title: Investigation of the expression of genes affecting cytomatrix active zone function in the amygdala in schizophrenia: effects of antipsychotic drugs.

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Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-36790 (e-PCR)
- UniSTS:6940

SHGC-74662 (e-PCR)
- UniSTS:10930

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables small GTPase binding	IEA Inferred from Electronic Annotation more info
enables structural constituent of presynaptic active zone	IBA Inferred from Biological aspect of Ancestor more info
enables transmembrane transporter binding	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in calcium-ion regulated exocytosis	ISS Inferred from Sequence or Structural Similarity more info
involved_in maintenance of presynaptic active zone structure	IEA Inferred from Electronic Annotation more info
involved_in regulation of membrane potential	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of synaptic vesicle exocytosis	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of synaptic vesicle exocytosis	ISS Inferred from Sequence or Structural Similarity more info
involved_in synaptic vesicle docking	IBA Inferred from Biological aspect of Ancestor more info
involved_in synaptic vesicle priming	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in presynaptic active zone	TAS Traceable Author Statement more info	PubMed
is_active_in presynaptic active zone cytoplasmic component	IBA Inferred from Biological aspect of Ancestor more info
is_active_in presynaptic membrane	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: regulating synaptic membrane exocytosis protein 3

Names: RIM3 gamma; Rab-3 interacting molecule 3; rab-3-interacting molecule 3

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_014747.3 → NP_055562.2 regulating synaptic membrane exocytosis protein 3

See identical proteins and their annotated locations for NP_055562.2

Status: VALIDATED

Source sequence(s)

AL031289

Consensus CDS

CCDS30687.1

UniProtKB/Swiss-Prot

D3DPV8, Q92511, Q9UJD0, X5D7U7

Related

ENSP00000361769.3, ENST00000372684.8

Conserved Domains (1) summary

cl14603
Location:141 → 286

C2; C2 domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

40620680..40692066 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047435189.1 → XP_047291145.1 regulating synaptic membrane exocytosis protein 3 isoform X1

UniProtKB/Swiss-Prot

D3DPV8, Q92511, Q9UJD0, X5D7U7
XM_047435184.1 → XP_047291140.1 regulating synaptic membrane exocytosis protein 3 isoform X1

UniProtKB/Swiss-Prot

D3DPV8, Q92511, Q9UJD0, X5D7U7