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    RIMS4 regulating synaptic membrane exocytosis 4 [ Homo sapiens (human) ]

    Gene ID: 140730, updated on 10-Dec-2024

    Summary

    Official Symbol
    RIMS4provided by HGNC
    Official Full Name
    regulating synaptic membrane exocytosis 4provided by HGNC
    Primary source
    HGNC:HGNC:16183
    See related
    Ensembl:ENSG00000101098 MIM:611601; AllianceGenome:HGNC:16183
    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
    RIM4; RIM 4; RIM-4; C20orf190; RIM4gamma; RIM4-gamma
    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 synaptic membrane. Predicted to be active in cytoskeleton of presynaptic active zone; glutamatergic synapse; and presynaptic membrane. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in brain (RPKM 10.7), testis (RPKM 10.4) and 8 other tissues See more
    Orthologs
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    Genomic context

    See RIMS4 in Genome Data Viewer
    Location:
    20q13.12
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (44751808..44810546, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (46487544..46546418, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (43380449..43439187, complement)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124904911 Neighboring gene Sharpr-MPRA regulatory region 14821 Neighboring gene KCNK15 and WISP2 antisense RNA 1 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:43355350-43355875 Neighboring gene cellular communication network factor 5 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:43380582-43381129 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr20:43385377-43386576 Neighboring gene potassium two pore domain channel subfamily K member 15 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:43401277-43401777 Neighboring gene ReSE screen-validated silencer GRCh37_chr20:43405721-43405858 Neighboring gene piggyBac transposable element derived 4 pseudogene 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12948 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:43514076-43514692 Neighboring gene tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein beta

    Genomic regions, transcripts, and products

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Phenotypes

    BioGRID CRISPR Screen Phenotypes (14 hits/1253 screens)

    EBI GWAS Catalog

    Description
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    Knockdown of regulating synaptic membrane exocytosis 4 (RIMS4) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

    General gene information

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding PubMed 
    enables small GTPase binding  
    enables transmembrane transporter binding  
    Process Evidence Code Pubs
    involved_in maintenance of presynaptic active zone structure  
    involved_in regulation of membrane potential  
    involved_in regulation of synaptic vesicle exocytosis  
    Component Evidence Code Pubs
    located_in presynaptic active zone PubMed 
    located_in synaptic membrane  

    General protein information

    Preferred Names
    regulating synaptic membrane exocytosis protein 4
    Names
    RIM4 gamma
    rab3-interacting molecule 4

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001205317.2NP_001192246.1  regulating synaptic membrane exocytosis protein 4 isoform 1

      See identical proteins and their annotated locations for NP_001192246.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AL118522, BC112985
      Consensus CDS
      CCDS56191.1
      UniProtKB/TrEMBL
      Q3MI43
      Related
      ENSP00000439287.1, ENST00000541604.2
      Conserved Domains (1) summary
      cl14603
      Location:101246
      C2; C2 domain
    2. NM_182970.4NP_892015.1  regulating synaptic membrane exocytosis protein 4 isoform 2

      See identical proteins and their annotated locations for NP_892015.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AL118522, BU167487
      Consensus CDS
      CCDS13338.1
      UniProtKB/Swiss-Prot
      A4FU94, E1P613, Q3MI44, Q5JWT7, Q9H426
      UniProtKB/TrEMBL
      Q3MI43
      Related
      ENSP00000361942.4, ENST00000372851.8
      Conserved Domains (1) summary
      cl14603
      Location:100245
      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

    1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      44751808..44810546 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      46487544..46546418 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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