Free for academic non-profit institutions. Other users need a Commercial license

Aliases for RIMS1 Gene

Aliases for RIMS1 Gene

  • Regulating Synaptic Membrane Exocytosis 1 2 3
  • RIM1 3 4 6
  • Rab-3-Interacting Protein 2 3 4
  • KIAA0340 4 6
  • RAB3IP2 3 4
  • CORD7 3 6
  • RIM 3 6
  • Regulating Synaptic Membrane Exocytosis Protein 1 3
  • Rab-3-Interacting Molecule 1 4
  • Rab3-Interacting Molecule 1 3
  • RAB3 Interacting Protein 2 2
  • RAB3-Interacting Protein 2 3
  • Rab3-Interacting Molecule 2
  • RIM 1 4

External Ids for RIMS1 Gene

Previous HGNC Symbols for RIMS1 Gene

  • RAB3IP2
  • CORD7

Previous GeneCards Identifiers for RIMS1 Gene

  • GC06P072554
  • GC06P072592
  • GC06P072653
  • GC06P069794

Summaries for RIMS1 Gene

Entrez Gene Summary for RIMS1 Gene

  • The protein encoded by this gene is a RAS gene superfamily member that regulates synaptic vesicle exocytosis. This gene also plays a role in the regulation of voltage-gated calcium channels during neurotransmitter and insulin release. Mutations have suggested a role cognition and have been identified as the cause of cone-rod dystrophy type 7. Multiple transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Mar 2012]

GeneCards Summary for RIMS1 Gene

RIMS1 (Regulating Synaptic Membrane Exocytosis 1) is a Protein Coding gene. Diseases associated with RIMS1 include cone-rod dystrophy 7 and cone-rod dystrophy 6. Among its related pathways are Transmission across Chemical Synapses and Transmission across Chemical Synapses. GO annotations related to this gene include ion channel binding. An important paralog of this gene is RIMS4.

UniProtKB/Swiss-Prot for RIMS1 Gene

  • Rab effector involved in exocytosis. May act as scaffold protein that regulates neurotransmitter release at the active zone. Essential for maintaining normal probability of neurotransmitter release and for regulating release during short-term synaptic plasticity (By similarity).

Gene Wiki entry for RIMS1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RIMS1 Gene

Genomics for RIMS1 Gene

Regulatory Elements for RIMS1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for RIMS1 Gene

Start:
71,886,703 bp from pter
End:
72,403,143 bp from pter
Size:
516,441 bases
Orientation:
Plus strand

Genomic View for RIMS1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for RIMS1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RIMS1 Gene

Proteins for RIMS1 Gene

  • Protein details for RIMS1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q86UR5-RIMS1_HUMAN
    Recommended name:
    Regulating synaptic membrane exocytosis protein 1
    Protein Accession:
    Q86UR5
    Secondary Accessions:
    • A7MBN6
    • B7Z2M0
    • B7Z2Q9
    • B7Z3S3
    • B7Z6S2
    • E7EX08
    • E9PCB7
    • E9PCZ1
    • E9PF48
    • E9PHF5
    • E9PHR1
    • O15048
    • Q5JY21
    • Q5JY25
    • Q5SZK1
    • Q8TDY9
    • Q8TDZ5
    • Q9HBA1
    • Q9HBA2
    • Q9HBA3
    • Q9HBA4
    • Q9HBA5
    • Q9HBA6

    Protein attributes for RIMS1 Gene

    Size:
    1692 amino acids
    Molecular mass:
    189073 Da
    Quaternary structure:
    • Binds RAB3A, RAB3B and RAB3D that have been activated by GTP-binding. Interacts with RAB3C, RAB10, RAB26 AND RAB37. Binds UNC13A. Interacts with BZRAP1/RIMBP1 and RIMBP2. Interacts with PPFIA3 and PPFIA4. Interacts with ERC1 (By similarity). Binds SNAP25, SYT1 and CACNA1B. Interaction with SYT1 is enhanced by calcium ions. Interaction with SNAP25 is weaker in the presence of calcium ions.
    SequenceCaution:
    • Sequence=BAA20798.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAI39600.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI42135.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for RIMS1 Gene

    Alternative splice isoforms for RIMS1 Gene

neXtProt entry for RIMS1 Gene

Proteomics data for RIMS1 Gene at MOPED

Post-translational modifications for RIMS1 Gene

No data available for DME Specific Peptides for RIMS1 Gene

Domains for RIMS1 Gene

Graphical View of Domain Structure for InterPro Entry

Q86UR5

UniProtKB/Swiss-Prot:

RIMS1_HUMAN :
  • Q86UR5
Domain:
  • Contains 2 C2 domains.
  • Contains 1 PDZ (DHR) domain.
  • Contains 1 RabBD (Rab-binding) domain.
Similarity:
  • Contains 1 FYVE-type zinc finger.
genes like me logo Genes that share domains with RIMS1: view

No data available for Gene Families for RIMS1 Gene

Function for RIMS1 Gene

Molecular function for RIMS1 Gene

UniProtKB/Swiss-Prot Function: Rab effector involved in exocytosis. May act as scaffold protein that regulates neurotransmitter release at the active zone. Essential for maintaining normal probability of neurotransmitter release and for regulating release during short-term synaptic plasticity (By similarity).

Gene Ontology (GO) - Molecular Function for RIMS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 11438518
GO:0017137 Rab GTPase binding ISS --
GO:0030695 GTPase regulator activity TAS 11438518
GO:0044325 ion channel binding IEA --
GO:0044822 poly(A) RNA binding IDA 22658674
genes like me logo Genes that share ontologies with RIMS1: view
genes like me logo Genes that share phenotypes with RIMS1: view

Animal Models for RIMS1 Gene

MGI Knock Outs for RIMS1:

Animal Model Products

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for RIMS1

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting and HOMER Transcription for RIMS1 Gene

Localization for RIMS1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RIMS1 Gene

Cell membrane; Peripheral membrane protein. Cell junction, synapse. Cell junction, synapse, presynaptic cell membrane; Peripheral membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for RIMS1 Gene COMPARTMENTS Subcellular localization image for RIMS1 gene
Compartment Confidence
plasma membrane 5
cytosol 3
nucleus 3
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for RIMS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane ISS --
GO:0030054 cell junction IEA --
GO:0042734 presynaptic membrane NAS 11438518
GO:0045202 synapse --
genes like me logo Genes that share ontologies with RIMS1: view

Pathways for RIMS1 Gene

genes like me logo Genes that share pathways with RIMS1: view

Gene Ontology (GO) - Biological Process for RIMS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006461 protein complex assembly IDA 11438518
GO:0006886 intracellular protein transport IEA --
GO:0007268 synaptic transmission TAS --
GO:0007269 neurotransmitter secretion TAS --
GO:0007601 visual perception IEA --
genes like me logo Genes that share ontologies with RIMS1: view

Compounds for RIMS1 Gene

(2) HMDB Compounds for RIMS1 Gene

Compound Synonyms Cas Number PubMed IDs
Calcium
  • Ca
7440-70-2
Guanosine triphosphate
  • 5'-GTP
86-01-1
genes like me logo Genes that share compounds with RIMS1: view

Transcripts for RIMS1 Gene

Unigene Clusters for RIMS1 Gene

Regulating synaptic membrane exocytosis 1:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for RIMS1

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for RIMS1
  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for RIMS1 Gene

No ASD Table

Relevant External Links for RIMS1 Gene

GeneLoc Exon Structure for
RIMS1
ECgene alternative splicing isoforms for
RIMS1

Expression for RIMS1 Gene

mRNA expression in normal human tissues for RIMS1 Gene

mRNA differential expression in normal tissues according to GTEx for RIMS1 Gene

This gene is overexpressed in Brain - Cerebellar Hemisphere (10.3), Brain - Cerebellum (6.8), Brain - Frontal Cortex (BA9) (5.2), Brain - Anterior cingulate cortex (BA24) (5.1), Brain - Cortex (5.1), Brain - Hippocampus (4.5), and Brain - Amygdala (4.3).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for RIMS1 Gene

SOURCE GeneReport for Unigene cluster for RIMS1 Gene Hs.485729

mRNA Expression by UniProt/SwissProt for RIMS1 Gene

Q86UR5-RIMS1_HUMAN
Tissue specificity: Detected in brain and retina
genes like me logo Genes that share expressions with RIMS1: view

In Situ Assay Products

Orthologs for RIMS1 Gene

This gene was present in the common ancestor of animals.

Orthologs for RIMS1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RIMS1 35
  • 99.72 (n)
  • 99.88 (a)
cow
(Bos Taurus)
Mammalia RIMS1 35
  • 88.57 (n)
  • 94.17 (a)
RIMS1 36
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RIMS1 35
  • 92.66 (n)
  • 94.14 (a)
RIMS1 36
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rims1 35
  • 88.77 (n)
  • 93.9 (a)
Rims1 16
Rims1 36
  • 89 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia RIMS1 36
  • 91 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RIMS1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rims1 35
  • 87.48 (n)
  • 92.41 (a)
chicken
(Gallus gallus)
Aves RIMS1 35
  • 83.43 (n)
  • 88.81 (a)
RIMS1 36
  • 86 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RIMS1 36
  • 84 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rims1 35
  • 76.44 (n)
  • 82.99 (a)
zebrafish
(Danio rerio)
Actinopterygii rims1a 36
  • 65 (a)
OneToOne
si:dkey-179o14.1 35
  • 63.42 (n)
  • 65.09 (a)
fruit fly
(Drosophila melanogaster)
Insecta Rim 36
  • 19 (a)
OneToMany
Rim 37
  • 61 (a)
worm
(Caenorhabditis elegans)
Secernentea unc-10 36
  • 28 (a)
OneToMany
unc-10 37
  • 46 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1713 36
  • 34 (a)
OneToMany
Species with no ortholog for RIMS1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for RIMS1 Gene

ENSEMBL:
Gene Tree for RIMS1 (if available)
TreeFam:
Gene Tree for RIMS1 (if available)

Paralogs for RIMS1 Gene

Paralogs for RIMS1 Gene

genes like me logo Genes that share paralogs with RIMS1: view

Variants for RIMS1 Gene

Sequence variations from dbSNP and Humsavar for RIMS1 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type MAF
rs471574 -- 72,057,036(-) TCCCT(C/G)CTCCC intron-variant
rs481951 -- 72,040,275(+) ATAGA(A/C)CCTGG intron-variant
rs482736 -- 72,040,317(+) TTGGA(C/G)CTAAA intron-variant
rs484596 -- 72,047,095(+) AGTGT(A/C)CTGTG intron-variant
rs489348 -- 72,023,647(+) ATTCC(C/T)ATGCT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for RIMS1 Gene

Variant ID Type Subtype PubMed ID
nsv830687 CNV Gain 17160897
nsv886151 CNV Gain 21882294
esv2732274 CNV Deletion 23290073
nsv507338 CNV Insertion 20534489
nsv5346 CNV Loss 18451855
esv2676826 CNV Deletion 23128226
nsv886152 CNV Loss 21882294
esv2452816 CNV Deletion 19546169
esv271195 CNV Insertion 20981092
esv273279 CNV Insertion 20981092
nsv5347 CNV Insertion 18451855
nsv509139 CNV Insertion 20534489
nsv286 CNV Insertion 15895083
esv2657331 CNV Deletion 23128226
nsv830688 CNV Gain 17160897
nsv5348 CNV Loss 18451855
esv2599517 CNV Loss 19546169
esv2656505 CNV Deletion 23128226
nsv819587 CNV Gain 19587683
esv2536377 CNV Deletion 19546169
esv2298302 CNV Deletion 18987734
nsv823728 CNV Loss 20364138
nsv823729 CNV Loss 20364138
nsv821430 CNV Deletion 20802225
nsv499825 CNV Loss 21111241
dgv1129e199 CNV Deletion 23128226
esv2732275 CNV Deletion 23290073
esv23486 CNV Gain 19812545
nsv514369 CNV Loss 21397061
nsv349724 CNV Loss 16902084
nsv507339 CNV Insertion 20534489
nsv470833 CNV Loss 18288195
esv2619394 CNV Deletion 19546169
nsv5349 CNV Insertion 18451855

Relevant External Links for RIMS1 Gene

HapMap Linkage Disequilibrium report
RIMS1
Human Gene Mutation Database (HGMD)
RIMS1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RIMS1 Gene

Disorders for RIMS1 Gene

(1) OMIM Diseases for RIMS1 Gene (606629)

UniProtKB/Swiss-Prot

RIMS1_HUMAN
  • Cone-rod dystrophy 7 (CORD7) [MIM:603649]: An inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa. {ECO:0000269 PubMed:12659814}. Note=The disease may be caused by mutations affecting the gene represented in this entry.

(3) University of Copenhagen DISEASES for RIMS1 Gene

(1) Novoseek inferred disease relationships for RIMS1 Gene

Disease -log(P) Hits PubMed IDs
cone-rod dystrophy 90.5 6

Relevant External Links for RIMS1

Genetic Association Database (GAD)
RIMS1
Human Genome Epidemiology (HuGE) Navigator
RIMS1
genes like me logo Genes that share disorders with RIMS1: view

Publications for RIMS1 Gene

  1. Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PMID: 9205841) Nagase T. … Ohara O. (DNA Res. 1997) 2 3 4
  2. Direct interaction of the Rab3 effector RIM with Ca2+ channels, SNAP- 25, and synaptotagmin. (PMID: 11438518) Coppola T. … Regazzi R. (J. Biol. Chem. 2001) 2 3 4
  3. Localization of a gene (CORD7) for a dominant cone-rod dystrophy to chromosome 6q. (PMID: 9634506) Kelsell R.E. … Hunt D.M. (Am. J. Hum. Genet. 1998) 3 23
  4. Functional interaction of the active zone proteins Munc13-1 and RIM1 in synaptic vesicle priming. (PMID: 11343654) Betz A. … Brose N. (Neuron 2001) 3 23
  5. Distinct Rab binding specificity of Rim1, Rim2, rabphilin, and Noc2. Identification of a critical determinant of Rab3A/Rab27A recognition by Rim2. (PMID: 12578829) Fukuda M. (J. Biol. Chem. 2003) 3 23

Products for RIMS1 Gene

Sources for RIMS1 Gene

Back to Top

Content