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

Gene ID: 140730, updated on 5-Mar-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 regulation of membrane potential; regulation of synapse organization; and regulation of synaptic vesicle exocytosis. Predicted to be located in synaptic membrane. Predicted to be active in glutamatergic synapse. [provided by Alliance of Genome Resources, Apr 2022]
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

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Location:
20q13.12
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (44751808..44810546, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (46487544..46546418, complement)
105.20220307 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
  • 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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Related articles in PubMed

  1. Genomic definition of RIM proteins: evolutionary amplification of a family of synaptic regulatory proteins. Wang Y, et al. Genomics, 2003 Feb. PMID 12620390
  2. The synaptic vesicle cycle. Sudhof TC. Annu Rev Neurosci, 2004. PMID 15217342
  3. A yeast two-hybrid screen reveals that osteopontin associates with MAP1A and MAP1B in addition to other proteins linked to microtubule stability, apoptosis and protein degradation in the human brain. Long P, et al. Eur J Neurosci, 2012 Sep. PMID 22779921
  4. Identification of host proteins required for HIV infection through a functional genomic screen. Brass AL, et al. Science, 2008 Feb 15. PMID 18187620
  5. The DNA sequence and comparative analysis of human chromosome 20. Deloukas P, et al. Nature, 2001 Dec 20-27. PMID 11780052

See all (18) citations in PubMed

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)

Genotypes

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 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 of neurotransmitter IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in positive regulation of synaptic transmission IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in regulation of membrane potential IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in regulation of membrane potential ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in regulation of synaptic plasticity IBA
Inferred from Biological aspect of Ancestor
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
  
Component Evidence Code Pubs
is_active_in cytoskeleton of presynaptic active zone IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in presynaptic active zone TAS
Traceable Author Statement
more info
 PubMed 
is_active_in presynaptic membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
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_2023_10

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.

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