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 encodi... See more...

Aliases for RIMS1 Gene

Aliases for RIMS1 Gene

  • Regulating Synaptic Membrane Exocytosis 1 2 3 5
  • RIM1 2 3 4
  • Regulating Synaptic Membrane Exocytosis Protein 1 3 4
  • Rab-3-Interacting Protein 2 3 4
  • KIAA0340 2 4
  • RAB3IP2 3 4
  • RIM 2 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
  • CORD7 3
  • RIMS1 5
  • 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 2. Among its related pathways are GABAergic synapse and Synaptic vesicle cycle. Gene Ontology (GO) annotations related to this gene include Rab GTPase binding. An important paralog of this gene is RIMS2.

UniProtKB/Swiss-Prot Summary 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 CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RIMS1 Gene

Genomics for RIMS1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for RIMS1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06J071886 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE CraniofacialAtlas 600.7 +0.7 698 2.8 CREB1 CTCF ZSCAN4 POLR2A ZNF561 SCRT2 RAD21 ZBTB48 ZBTB26 ZBTB17 RIMS1 piR-39279-037 KCNQ5
GH06J072216 Promoter 0.7 EPDnew 600.1 +329.8 329799 0.1 FOXA1 SP1 CTBP1 ESRRA ZNF217 GATA3 DPF2 HNF4A RIMS1 piR-39300-099 HSALNG0051191 KCNQ5
GH06J071603 Promoter 0.3 EPDnew 606.1 -282.7 -282742 0.1 RIMS1 lnc-RIMS1-2 RF00015-061 RNU4-66P OGFRL1
GH06J071418 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 5.7 -466.8 -466803 3.8 PRDM10 REST ZNF692 PRDM1 ZSCAN4 POLR2A CTCF SP1 ZNF501 EZH2 LINC00472 LINC01626 OGFRL1 RIMS1 ENSG00000232295 ENSG00000269966
GH06J071286 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 5.9 -596.8 -596833 6.3 PRDM10 ZNF629 ZNF692 LARP7 ZIC2 ZSCAN4 POLR2A PATZ1 IKZF2 CTCF OGFRL1 ENSG00000232295 ENSG00000230597 RIMS1 lnc-OGFRL1-4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RIMS1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RIMS1

Top Transcription factor binding sites by QIAGEN in the RIMS1 gene promoter:
  • GATA-1
  • LCR-F1
  • Nkx3-1
  • Nkx3-1 v1
  • Nkx3-1 v2
  • Nkx3-1 v3
  • Nkx3-1 v4
  • p53

Genomic Locations for RIMS1 Gene

Genomic Locations for RIMS1 Gene
chr6:71,886,703-72,403,145
(GRCh38/hg38)
Size:
516,443 bases
Orientation:
Plus strand
chr6:72,596,406-73,112,845
(GRCh37/hg19)
Size:
516,440 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 TSPOAP1 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};
    Miscellaneous:
    • [Isoform 2]: May be due to intron retention.

    Three dimensional structures from OCA and Proteopedia for RIMS1 Gene

    Alternative splice isoforms for RIMS1 Gene

neXtProt entry for RIMS1 Gene

Post-translational modifications for RIMS1 Gene

Other Protein References for RIMS1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for RIMS1 Gene

Domains & Families for RIMS1 Gene

Gene Families for RIMS1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for RIMS1 Gene

InterPro:
Blocks:
  • PDZ/DHR/GLGF domain
  • C2 domain
  • Zn-finger, FYVE type
ProtoNet:

Suggested Antigen Peptide Sequences for RIMS1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ52438, highly similar to Regulating synaptic membrane exocytosis protein 1 (B7Z3S3_HUMAN)
  • cDNA FLJ55558, highly similar to Regulating synaptic membrane exocytosis protein 1 (B7Z7W2_HUMAN)
  • RIMS1 protein (Q3ZCW0_HUMAN)
  • Regulating synaptic membrane exocytosis 1 (Q5JY20_HUMAN)
  • Regulating synaptic membrane exocytosis 1 (Q5JY21_HUMAN)
genes like me logo Genes that share domains with RIMS1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for RIMS1 Gene

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).

Phenotypes From GWAS Catalog for RIMS1 Gene

Gene Ontology (GO) - Molecular Function for RIMS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding HDA 22658674
GO:0005515 protein binding IPI 11438518
GO:0017137 Rab GTPase binding ISS --
GO:0030695 GTPase regulator activity TAS 11438518
GO:0044325 ion channel binding IBA 21873635
genes like me logo Genes that share ontologies with RIMS1: view
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:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RIMS1

Clone Products

  • Addgene plasmids for RIMS1

No data available for Enzyme Numbers (IUBMB) , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RIMS1 gene
Compartment Confidence
cytosol 5
plasma membrane 4
cytoskeleton 4
nucleus 3
extracellular 2
mitochondrion 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 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:0016020 membrane IEA --
GO:0030054 cell junction IEA --
GO:0042734 presynaptic membrane IBA,NAS 11438518
genes like me logo Genes that share ontologies with RIMS1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) 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:0006836 neurotransmitter transport IEA --
GO:0006886 intracellular protein transport IEA --
GO:0006887 exocytosis IEA --
GO:0007269 neurotransmitter secretion TAS --
GO:0007601 visual perception IEA --
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 6556
genes like me logo Genes that share compounds with RIMS1: view

Transcripts for RIMS1 Gene

mRNA/cDNA for RIMS1 Gene

68 REFSEQ mRNAs :
27 NCBI additional mRNA sequence :
20 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RIMS1

Clone Products

  • Addgene plasmids for RIMS1

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

No ASD Table

Relevant External Links for RIMS1 Gene

GeneLoc Exon Structure for
RIMS1

Expression for RIMS1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for RIMS1 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RIMS1

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).

Evidence on tissue expression from TISSUES for RIMS1 Gene

  • Nervous system(4.9)
  • Intestine(4.2)
  • Eye(2.3)
  • Skin(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for RIMS1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • endocrine
  • immune
  • integumentary
  • nervous
  • reproductive
  • skeletal muscle
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • head
  • lacrimal apparatus
  • pituitary gland
Thorax:
  • breast
Pelvis:
  • ovary
  • penis
  • prostate
  • testicle
  • uterus
  • vagina
  • vulva
General:
  • blood
  • blood vessel
  • hair
  • peripheral nervous system
  • skin
genes like me logo Genes that share expression patterns with RIMS1: view

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
Platypus
(Ornithorhynchus anatinus)
Mammalia RIMS1 31
  • 100 (a)
OneToOne
Chimpanzee
(Pan troglodytes)
Mammalia RIMS1 30
  • 99.72 (n)
Dog
(Canis familiaris)
Mammalia RIMS1 30 31
  • 92.66 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia RIMS1 31
  • 91 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Rims1 30 17 31
  • 88.77 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia RIMS1 30 31
  • 88.57 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Rims1 30
  • 87.48 (n)
Chicken
(Gallus gallus)
Aves RIMS1 30 31
  • 83.43 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia RIMS1 31
  • 84 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia rims1 30
  • 76.44 (n)
Zebrafish
(Danio rerio)
Actinopterygii rims1a 31
  • 65 (a)
OneToOne
si:dkey-179o14.1 30
  • 63.42 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta Rim 31 32
  • 19 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea unc-10 31 32
  • 28 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.1713 31
  • 34 (a)
OneToMany
Species where no ortholog for RIMS1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for RIMS1: view image

Paralogs for RIMS1 Gene

Paralogs for RIMS1 Gene

(9) SIMAP similar genes for RIMS1 Gene using alignment to 8 proteins:

  • RIMS1_HUMAN
  • B7Z7W2_HUMAN
  • E5RGM0_HUMAN
  • E7ENC2_HUMAN
  • H0YBE7_HUMAN
  • H0YBU6_HUMAN
  • L8ECF5_HUMAN
  • Q3ZCW0_HUMAN
genes like me logo Genes that share paralogs with RIMS1: view

Variants for RIMS1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RIMS1 Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
638483 Uncertain Significance: Cone-rod dystrophy 7 72,213,210(+) C/T NONSENSE,FIVE_PRIME_UTR_VARIANT,INTRON_VARIANT
677182 Benign: not provided 72,235,789(+) C/T INTRON_VARIANT
677183 Benign: not provided 72,258,906(+) C/T INTRON_VARIANT
725750 Likely Benign: not provided 72,333,786(+) T/C SYNONYMOUS_VARIANT,INTRON_VARIANT
728796 Likely Benign: not provided 72,265,002(+) A/G SYNONYMOUS_VARIANT,INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for RIMS1 Gene

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

Variant ID Type Subtype PubMed ID
dgv10759n54 CNV loss 21841781
dgv10760n54 CNV loss 21841781
dgv10761n54 CNV loss 21841781
dgv10762n54 CNV loss 21841781
dgv10763n54 CNV gain+loss 21841781
dgv10764n54 CNV loss 21841781
dgv10765n54 CNV loss 21841781
dgv10766n54 CNV loss 21841781
dgv10767n54 CNV loss 21841781
dgv10768n54 CNV loss 21841781
dgv10769n54 CNV gain 21841781
dgv10770n54 CNV gain 21841781
dgv1129e199 CNV deletion 23128226
dgv1800e212 CNV loss 25503493
esv2298302 CNV deletion 18987734
esv23486 CNV gain 19812545
esv2452816 CNV deletion 19546169
esv2536377 CNV deletion 19546169
esv2599517 CNV loss 19546169
esv2619394 CNV deletion 19546169
esv2656505 CNV deletion 23128226
esv2657331 CNV deletion 23128226
esv2676826 CNV deletion 23128226
esv2732274 CNV deletion 23290073
esv2732275 CNV deletion 23290073
esv3309006 CNV mobile element insertion 20981092
esv3329515 CNV insertion 20981092
esv3539959 CNV deletion 23714750
esv3539960 CNV deletion 23714750
esv3539961 CNV deletion 23714750
esv3609473 CNV loss 21293372
esv3609474 CNV loss 21293372
esv3609478 CNV gain 21293372
esv3609479 CNV loss 21293372
esv3609480 CNV gain 21293372
esv3609481 CNV loss 21293372
esv3609482 CNV loss 21293372
nsv1073214 CNV deletion 25765185
nsv286 CNV insertion 15895083
nsv349724 CNV deletion 16902084
nsv470833 CNV loss 18288195
nsv472537 CNV novel sequence insertion 20440878
nsv473293 CNV novel sequence insertion 20440878
nsv475681 CNV novel sequence insertion 20440878
nsv477191 CNV novel sequence insertion 20440878
nsv477496 CNV novel sequence insertion 20440878
nsv477506 CNV novel sequence insertion 20440878
nsv499825 CNV loss 21111241
nsv507338 OTHER sequence alteration 20534489
nsv507339 OTHER sequence alteration 20534489
nsv509139 CNV insertion 20534489
nsv514369 CNV loss 21397061
nsv5346 CNV deletion 18451855
nsv5347 CNV insertion 18451855
nsv5348 CNV deletion 18451855
nsv5349 CNV insertion 18451855
nsv603640 CNV gain 21841781
nsv603641 CNV loss 21841781
nsv603645 CNV gain+loss 21841781
nsv603681 CNV loss 21841781
nsv603689 CNV loss 21841781
nsv603690 CNV gain+loss 21841781
nsv603691 CNV loss 21841781
nsv819587 CNV gain 19587683
nsv821430 CNV deletion 20802225
nsv823728 CNV loss 20364138
nsv823729 CNV loss 20364138
nsv830687 CNV gain 17160897
nsv830688 CNV gain 17160897

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)

Additional Variant Information for RIMS1 Gene

Human Gene Mutation Database (HGMD)
RIMS1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RIMS1

SNP Genotyping and Copy Number Assay Products

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

Disorders for RIMS1 Gene

MalaCards: The human disease database

(18) MalaCards diseases for RIMS1 Gene - From: UniProtKB/Swiss-Prot, OMIM, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
cone-rod dystrophy 7
  • cord7
cone-rod dystrophy 2
  • cord2
cone-rod dystrophy 12
  • cord12
cone-rod dystrophy 17
  • cord17
stargardt macular degeneration
  • stargardt disease 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, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors. {ECO:0000269 PubMed:12659814}. Note=The disease may be caused by mutations affecting the gene represented in this entry.

Additional Disease Information for RIMS1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
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 (The Journal of biological chemistry 2001) 2 3 4
  2. 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 research : an international journal for rapid publication of reports on genes and genomes 1997) 2 3 4
  3. SYT14L, especially its C2 domain, is involved in regulating melanocyte differentiation. (PMID: 23999003) Yoo JC … Yoon TJ (Journal of dermatological science 2013) 3 4
  4. Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip. (PMID: 20801516) Booij JC … Florijn RJ (Ophthalmology 2011) 3 41
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41

Products for RIMS1 Gene

Sources for RIMS1 Gene