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

    Gene ID: 140730, updated on 14-Nov-2024

    Summary

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    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, Nov 2024]
    Expression
    Biased expression in brain (RPKM 10.7), testis (RPKM 10.4) and 8 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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?
    1. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    HIV-1 interactions

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    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

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    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 transmembrane transporter binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Process Evidence Code Pubs
    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 ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in presynaptic active zone TAS
    Traceable Author Statement
    more info
    		 PubMed 
    located_in synaptic membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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

    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)

    1. NM_001205317.2 → NP_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:101 → 246
      C2; C2 domain

    2. NM_182970.4 → NP_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:100 → 245
      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)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H426.3 GenPept UniProtKB/Swiss-Prot:Q9H426

    Gene LinkOut

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

    Chemical Information
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