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

    Gene ID: 9783, updated on 5-May-2013
    Official Symbol
    RIMS3provided by HGNC
    Official Full Name
    regulating synaptic membrane exocytosis 3provided by HGNC
    Primary source
    HGNC:21292
    Locus tag
    RP4-739H11.2
    See related
    Ensembl:ENSG00000117016; HPRD:17976; MIM:611600; Vega:OTTHUMG00000007453
    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
    Location :
    1pter-p22.2
    Sequence :
    Chromosome: 1; NC_000001.10 (41086352..41131324, complement)
    See RIMS3 in Epigenomics, MapViewer

    Chromosome 1 - NC_000001.10Genomic Context describing neighboring genes Neighboring gene eukaryotic translation initiation factor 2, subunit 3 gamma, 52kDa pseudogene Neighboring gene general transcription factor IIF, polypeptide 2 pseudogene 2 Neighboring gene uncharacterized LOC100130557 Neighboring gene nuclear transcription factor Y, gamma Neighboring gene microRNA 30e

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details

    Related articles in PubMed

    1. Toward an understanding of the protein interaction network of the human liver. Wang J, et al. Mol Syst Biol, 2011 Oct 11. PMID 21988832.
    2. A de novo 1p34.2 microdeletion identifies the synaptic vesicle gene RIMS3 as a novel candidate for autism. Kumar RA, et al. J Med Genet, 2010 Feb. PMID 19546099.
    3. Investigation of the expression of genes affecting cytomatrix active zone function in the amygdala in schizophrenia: effects of antipsychotic drugs. Weidenhofer J, et al. J Psychiatr Res, 2009 Jan. PMID 18490030.
    4. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. Olsen JV, et al. Cell, 2006 Nov 3. PMID 17081983.
    5. The DNA sequence and biological annotation of human chromosome 1. Gregory SG, et al. Nature, 2006 May 18. PMID 16710414.

    See all (10) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. 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.
    2. 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.
    Submit: New GeneRIF Correction

    Review eQTL and phenotype association data in this region using PheGenI

    Products Interactant Other Gene Complex Source Pubs Description
    BioGRID:115127 BioGRID:108969 GJA5    BioGRID  PubMed Two-hybrid 

    Markers

    Genotypes

    Homology

    Clone Names

    • KIAA0237

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ion channel binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    exocytosis IEA
    Inferred from Electronic Annotation
    more info
    		  
    neurotransmitter transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    regulation of membrane potential IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    cell junction IEA
    Inferred from Electronic Annotation
    more info
    		  
    synapse IEA
    Inferred from Electronic Annotation
    more info
    		  
    Preferred Names
    regulating synaptic membrane exocytosis protein 3
    Names
    regulating synaptic membrane exocytosis protein 3
    RIM 3
    RIM3 gamma
    Rab-3 interacting molecule 3
    rab-3-interacting molecule 3

    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)

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

      Status: VALIDATED

      Source sequence(s)
      BC003103, CK005853, D87074
      Consensus CDS
      CCDS30687.1
      UniProtKB/Swiss-Prot
      Q9UJD0
      Related
      ENSP00000361769, OTTHUMP00000008622, ENST00000372684, OTTHUMT00000019585
      Conserved Domains (1) summary
      cd04028
      Location:141 – 286
      Blast Score: 602
      C2B_RIM1alpha; C2 domain second repeat contained in Rab3-interacting molecule (RIM) proteins

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

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

    Reference GRCh37.p10 Primary Assembly

    Genomic

    1. NC_000001.10 Reference GRCh37.p10 Primary Assembly

      Range
      41086352..41131324, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000133.1 Alternate HuRef

      Range
      39204205..39249067, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.0

    Genomic

    1. NC_018912.1 Alternate CHM1_1.0

      Range
      41164383..41209452, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    genomic ABBA01023167.1 (12135..34775) None
    genomic ABBA01023168.1 None
    genomic AL031289.1 (56611..101583) None
    genomic AMYH01000537.1 (251577..285055) None
    genomic AMYH01000538.1 None
    genomic CH471059.2 EAX07206.1
      EAX07207.1
    mRNA AY326956.1 AAQ01683.1
    mRNA BC003103.1 AAH03103.1
    mRNA CK005853.1 None
    mRNA D87074.1 BAA13243.2
    other-genetic EU446752.1 ABZ92281.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9UJD0.1 GenPept UniProtKB/Swiss-Prot:Q9UJD0

    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Medical
    Molecular Biology Databases
    Research Materials
    Tools
    Miscellaneous

      Supplemental Content

      Table of contents

      Related information

      • Order cDNA clone
        Order cDNA clone
      • BioAssay
        Related PubChem BioAssays
      • BioProjects
        BioProjects related to a gene
      • CCDS
        Links from Gene to CCDS are established if a gene encodes a protein sequence that is a member of a Consensus CDS (CCDS).
      • Conserved Domains
        Conserved Domain Database Links between Entrez Gene and Conserved Domain Database (CDD) are calculated from the domains annotated by the CDD group on Reference Sequence proteins.
      • dbVar
        Link from Gene to dbVar
      • EST
        Link to related EST entry
      • Full text in PMC
        PMC links
      • Full text in PMC_nucleotide
        Full text in PubMedCentral identified from shared sequence links
      • GAP
        GAP Links
      • Genome
        Genome records having the gene annotated on corresponding genomic reference sequence.
      • GEO Profiles
        Related GEO
      • HomoloGene
        Links between HomoloGene and Gene are provided by the HomoloGene group when a gene is included in a HomoloGene record.
      • Map Viewer
        These links are maintained by the Map Viewer group and are provided when a GeneID is annotated on a map for the same species.
      • Nucleotide
        Link to related Nucleotide entry
      • OMIM
        Links between OMIM and Gene are calculated by Gene based on MIM numbers included in the summary and phenotype sections of the Gene record.
      • Probe
        Related Probe entry
      • Protein
        Link to related protein entry
      • PubChem Compound
        PubChem Compounds
      • PubChem Substance
        PubChem Substances
      • PubMed
        Links between Gene and PubMed are the result of the following: 1. Manual curation within NCBI. Part of the process of generating a REVIEWED RefSeq is an analysis of the current literature. Papers that are seminal in defining the gene, its sequence, and its function are added to the record at that time. Alert users point out gaps or errors in papers associated with a Gene record. These messages are reviewed and implemented as required. 2. Integration of information from other public databases. Gene integrates gene-citation from resources external to NCBI such as model organism-specific databases, Gene Ontology (GO), groups curating interactions, and sequence databases. The assumption in using these source is that they report citations specific to a gene in a known species. Gene does not process citations from OMIM automatically, because many of citations in OMIM refer to studies of genes in species other than human.
      • PubMed (GeneRIF)
        GeneRIF -- Gene Reference Into Function Staff of the Index Section in the National Library of Medicine review the current literature. When they find articles focused on the structure and function of a gene, they write a brief summary of the impact of the paper and make the connection between the citation (PubMed) and Gene. An interface exists for interested users to submit such data as well. http://www.ncbi.nlm.nih.gov/projects/GeneRIF/GeneRIFhelp.html
      • PubMed (OMIM)
        Links are provided when Gene has a link to a record in OMIM, and OMIM explicitly cites these publications in PubMed.
      • PubMed(nucleotide/PMC)
        Citations in PubMed identified from shared sequence and PMC links.
      • RefSeq Proteins
        Link to Protein RefSeqs
      • RefSeq RNAs
        Link to Nucleotide RefSeq RNAs
      • SNP
        Related SNP records
      • SNP: GeneView
        SNPs linked from GeneView
      • SNP: Genotype
        Gene Genotype Report
      • Taxonomy
        Link to related taxonomy entry
      • UniGene
        Links are provided between Gene and UniGene when both databases calculate links to the same mRNA record (gi).
      • UniSTS
        Related UniSTS records

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