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Aliases for RIMS1 Gene

Aliases for RIMS1 Gene

  • Regulating Synaptic Membrane Exocytosis 1 2 3 5
  • Rab-3-Interacting Protein 2 3 4
  • RAB3IP2 3 4
  • RIM1 3 4
  • 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
  • KIAA0340 4
  • CORD7 3
  • RIM 1 4
  • RIM 3

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 seckel syndrome 2. Among its related pathways are Neurotransmitter Release Cycle and Transmission across Chemical Synapses. GO annotations related to this gene include poly(A) RNA binding and Rab GTPase binding. An important paralog of this gene is RIMS4.

UniProtKB/Swiss-Prot for RIMS1 Gene

  • Rab effector involved in exocytosis (By similarity). 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). Plays a role in dendrite formation by melanocytes (PubMed:23999003).

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

Promoters for RIMS1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around RIMS1 on UCSC Golden Path with GeneCards custom track

Genomic Location for RIMS1 Gene

Chromosome:
6
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

Genes around RIMS1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RIMS1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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 & Families for RIMS1 Gene

Graphical View of Domain Structure for InterPro Entry

Q86UR5

UniProtKB/Swiss-Prot:

RIMS1_HUMAN :
  • Contains 2 C2 domains.
  • Contains 1 FYVE-type zinc finger.
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

Function for RIMS1 Gene

Molecular function for RIMS1 Gene

UniProtKB/Swiss-Prot Function:
Rab effector involved in exocytosis (By similarity). 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). Plays a role in dendrite formation by melanocytes (PubMed:23999003).
genes like me logo Genes that share phenotypes with RIMS1: view

Human Phenotype Ontology for RIMS1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for RIMS1 Gene

MGI Knock Outs for RIMS1:

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , miRNA , Transcription Factor Targets 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
cytosol 5
plasma membrane 5
nucleus 3
cytoskeleton 1

No data available for Gene Ontology (GO) - Cellular Components for RIMS1 Gene

Pathways & Interactions for RIMS1 Gene

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

SIGNOR curated interactions for RIMS1 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for RIMS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006461 protein complex assembly IDA 11438518
GO:0007268 synaptic transmission TAS --
GO:0007269 neurotransmitter secretion TAS --
GO:0010628 positive regulation of gene expression ISS --
GO:0017156 calcium ion regulated exocytosis TAS 11438518
genes like me logo Genes that share ontologies with RIMS1: view

Drugs & Compounds for RIMS1 Gene

(2) Drugs for RIMS1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine triphosphate Experimental Pharma 0
calcium Nutra 0
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

Inhibitory RNA Products

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 expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Brain - Cerebellar Hemisphere (x10.3), Brain - Cerebellum (x6.8), Brain - Frontal Cortex (BA9) (x5.2), Brain - Anterior cingulate cortex (BA24) (x5.1), Brain - Cortex (x5.1), Brain - Hippocampus (x4.5), and Brain - Amygdala (x4.3).

Protein differential expression in normal tissues from HIPED for RIMS1 Gene

This gene is overexpressed in Bone marrow stromal cell (30.5), Brain (21.9), and Pancreas (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines 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: Expressed in melanocytes (PubMed:23999003). Detected in brain and retina (PubMed:23999003).
genes like me logo Genes that share expression patterns with RIMS1: view

Primer Products

In Situ Assay Products

No data available for Protein tissue co-expression partners for RIMS1 Gene

Orthologs for RIMS1 Gene

This gene was present in the common ancestor of animals.

Orthologs for RIMS1 Gene

Organism Taxonomy Gene Similarity Type Details
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
chimpanzee
(Pan troglodytes)
Mammalia RIMS1 35
  • 99.72 (n)
  • 99.88 (a)
rat
(Rattus norvegicus)
Mammalia Rims1 35
  • 87.48 (n)
  • 92.41 (a)
oppossum
(Monodelphis domestica)
Mammalia RIMS1 36
  • 91 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RIMS1 36
  • 100 (a)
OneToOne
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 si:dkey-179o14.1 35
  • 63.42 (n)
  • 65.09 (a)
rims1a 36
  • 65 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Rim 37
  • 61 (a)
Rim 36
  • 19 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea unc-10 37
  • 46 (a)
unc-10 36
  • 28 (a)
OneToMany
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
VAR_016804 Cone-rod dystrophy 7 (CORD7)
rs471574 -- 72,057,036(-) TCCCT(C/G)CTCCC intron-variant
rs489348 -- 72,023,647(+) ATTCC(C/T)ATGCT intron-variant
rs490471 -- 72,006,522(-) tcgcc(C/T)tgcct intron-variant
rs509760 -- 72,047,571(+) AGCTT(C/T)TAAAG 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

Variation tolerance for RIMS1 Gene

Residual Variation Intolerance Score: 2.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.37; 63.45% of all genes are more intolerant (likely to be disease-causing)

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

MalaCards: The human disease database

(13) MalaCards diseases for RIMS1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
cone-rod dystrophy 7
  • retinitis pigmentosa 7
seckel syndrome 2
  • seckel syndrome type 2
jawad syndrome
  • microcephaly with mental retardation and digital anomalies
pancreatic cancer
  • pancreatic carcinoma, somatic
retinitis pigmentosa
  • retinitis pigmentosa 1
- elite association - COSMIC cancer census association via MalaCards
Search RIMS1 in MalaCards View complete list of genes associated with diseases

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.

Relevant External Links for RIMS1

Genetic Association Database (GAD)
RIMS1
Human Genome Epidemiology (HuGE) Navigator
RIMS1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RIMS1
genes like me logo Genes that share disorders with RIMS1: view

No data available for Genatlas for RIMS1 Gene

Publications for RIMS1 Gene

  1. 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 67
  2. Genetic enhancement of cognition in a kindred with cone-rod dystrophy due to RIMS1 mutation. (PMID: 17237123) Sisodiya S.M. … Moore A.T. (J. Med. Genet. 2007) 3 23
  3. Physical and functional interaction of the active zone proteins, CAST, RIM1, and Bassoon, in neurotransmitter release. (PMID: 14734538) Takao-Rikitsu E. … Takai Y. (J. Cell Biol. 2004) 3 23
  4. 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
  5. 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

Products for RIMS1 Gene

Sources for RIMS1 Gene

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