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

Gene ID: 140730, updated on 22-Sep-2022

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 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

See RIMS4 in Genome Data Viewer
Location:
20q13.12
Exon count:
6
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (44751808..44810546, complement)
110 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 KCNK15 and WISP2 antisense RNA 1 Neighboring gene cellular communication network factor 5 Neighboring gene potassium two pore domain channel subfamily K member 15 Neighboring gene piggyBac transposable element derived 4 pseudogene 2 Neighboring gene tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein beta

Genomic regions, transcripts, and products

Expression

  • 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

Phenotypes

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

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 exocytosis IEA
Inferred from Electronic Annotation
more info
 
involved_in neurotransmitter transport 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

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_001205317.2NP_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/Swiss-Prot
    Q9H426
    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
    Q5JWT7, Q9H426
    Related
    ENSP00000361942.4, ENST00000372851.8
    Conserved Domains (1) summary
    cl14603
    Location:100245
    C2; C2 domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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)