RIMS1 - regulating synaptic membrane exocytosis 1 Gene

Also Known as RIM; RIM1; CORD7; RAB3IP2

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 22999

About RIMS1

Cytogenetic location: 6q13 Genomic coordinates (GRCh38): 6:71,886,550-72,403,145 (from NCBI)

This gene has 21 transcripts (splice variants), 303 orthologues, 4 paralogues and is associated with 3 phenotypes. Biased expression in brain (RPKM 5.2), testis (RPKM 1.0) and 4 other tissues.

Summary

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]

RIMS1 Products (68)

mRNA Protein Name
NM_001168407.2 NP_001161879.1 regulating synaptic membrane exocytosis protein 1 isoform 2
NM_001168408.2 NP_001161880.1 regulating synaptic membrane exocytosis protein 1 isoform 3
NM_001168409.2 NP_001161881.1 regulating synaptic membrane exocytosis protein 1 isoform 4
NM_001168410.2 NP_001161882.1 regulating synaptic membrane exocytosis protein 1 isoform 5 precursor
NM_001168411.2 NP_001161883.1 regulating synaptic membrane exocytosis protein 1 isoform 6
NM_001350411.1 NP_001337340.1 regulating synaptic membrane exocytosis protein 1 isoform 7
NM_001350412.1 NP_001337341.1 regulating synaptic membrane exocytosis protein 1 isoform 8
NM_001350413.1 NP_001337342.1 regulating synaptic membrane exocytosis protein 1 isoform 9
NM_001350414.2 NP_001337343.1 regulating synaptic membrane exocytosis protein 1 isoform 10
NM_001350415.2 NP_001337344.1 regulating synaptic membrane exocytosis protein 1 isoform 11
NM_001350416.2 NP_001337345.1 regulating synaptic membrane exocytosis protein 1 isoform 12
NM_001350417.2 NP_001337346.1 regulating synaptic membrane exocytosis protein 1 isoform 13
NM_001350418.2 NP_001337347.1 regulating synaptic membrane exocytosis protein 1 isoform 14
NM_001350419.2 NP_001337348.1 regulating synaptic membrane exocytosis protein 1 isoform 15
NM_001350420.2 NP_001337349.1 regulating synaptic membrane exocytosis protein 1 isoform 16
NM_001350421.2 NP_001337350.1 regulating synaptic membrane exocytosis protein 1 isoform 17
NM_001350422.2 NP_001337351.1 regulating synaptic membrane exocytosis protein 1 isoform 18
NM_001350423.2 NP_001337352.1 regulating synaptic membrane exocytosis protein 1 isoform 19
NM_001350424.2 NP_001337353.1 regulating synaptic membrane exocytosis protein 1 isoform 20
NM_001350425.2 NP_001337354.1 regulating synaptic membrane exocytosis protein 1 isoform 21
NM_001350426.2 NP_001337355.1 regulating synaptic membrane exocytosis protein 1 isoform 22
NM_001350427.2 NP_001337356.1 regulating synaptic membrane exocytosis protein 1 isoform 23
NM_001350428.2 NP_001337357.1 regulating synaptic membrane exocytosis protein 1 isoform 24
NM_001350429.2 NP_001337358.1 regulating synaptic membrane exocytosis protein 1 isoform 25
NM_001350430.2 NP_001337359.1 regulating synaptic membrane exocytosis protein 1 isoform 26
NM_001350431.2 NP_001337360.1 regulating synaptic membrane exocytosis protein 1 isoform 27
NM_001350432.2 NP_001337361.1 regulating synaptic membrane exocytosis protein 1 isoform 28
NM_001350433.2 NP_001337362.1 regulating synaptic membrane exocytosis protein 1 isoform 29
NM_001350434.2 NP_001337363.1 regulating synaptic membrane exocytosis protein 1 isoform 30
NM_001350435.2 NP_001337364.1 regulating synaptic membrane exocytosis protein 1 isoform 31
NM_001350436.2 NP_001337365.1 regulating synaptic membrane exocytosis protein 1 isoform 32
NM_001350437.2 NP_001337366.1 regulating synaptic membrane exocytosis protein 1 isoform 33
NM_001350438.2 NP_001337367.1 regulating synaptic membrane exocytosis protein 1 isoform 34
NM_001350439.2 NP_001337368.1 regulating synaptic membrane exocytosis protein 1 isoform 35
NM_001350440.2 NP_001337369.1 regulating synaptic membrane exocytosis protein 1 isoform 36
NM_001350441.2 NP_001337370.1 regulating synaptic membrane exocytosis protein 1 isoform 37
NM_001350442.2 NP_001337371.1 regulating synaptic membrane exocytosis protein 1 isoform 38
NM_001350443.2 NP_001337372.1 regulating synaptic membrane exocytosis protein 1 isoform 39
NM_001350444.2 NP_001337373.1 regulating synaptic membrane exocytosis protein 1 isoform 40
NM_001350445.2 NP_001337374.1 regulating synaptic membrane exocytosis protein 1 isoform 41
NM_001350446.2 NP_001337375.1 regulating synaptic membrane exocytosis protein 1 isoform 42
NM_001350447.2 NP_001337376.1 regulating synaptic membrane exocytosis protein 1 isoform 43
NM_001350448.2 NP_001337377.1 regulating synaptic membrane exocytosis protein 1 isoform 44
NM_001350449.2 NP_001337378.1 regulating synaptic membrane exocytosis protein 1 isoform 45
NM_001350450.2 NP_001337379.1 regulating synaptic membrane exocytosis protein 1 isoform 46
NM_001350452.2 NP_001337381.1 regulating synaptic membrane exocytosis protein 1 isoform 47
NM_001350454.2 NP_001337383.1 regulating synaptic membrane exocytosis protein 1 isoform 48
NM_001350455.2 NP_001337384.1 regulating synaptic membrane exocytosis protein 1 isoform 49
NM_001350456.2 NP_001337385.1 regulating synaptic membrane exocytosis protein 1 isoform 50
NM_001350457.2 NP_001337386.1 regulating synaptic membrane exocytosis protein 1 isoform 51
NM_001350458.2 NP_001337387.1 regulating synaptic membrane exocytosis protein 1 isoform 52
NM_001350459.2 NP_001337388.1 regulating synaptic membrane exocytosis protein 1 isoform 53
NM_001350460.2 NP_001337389.1 regulating synaptic membrane exocytosis protein 1 isoform 54
NM_001350461.2 NP_001337390.1 regulating synaptic membrane exocytosis protein 1 isoform 55
NM_001350462.2 NP_001337391.1 regulating synaptic membrane exocytosis protein 1 isoform 56
NM_001350463.2 NP_001337392.1 regulating synaptic membrane exocytosis protein 1 isoform 57
NM_001350464.2 NP_001337393.1 regulating synaptic membrane exocytosis protein 1 isoform 58
NM_001350465.2 NP_001337394.1 regulating synaptic membrane exocytosis protein 1 isoform 59
NM_001350466.2 NP_001337395.1 regulating synaptic membrane exocytosis protein 1 isoform 60
NM_001350467.2 NP_001337396.1 regulating synaptic membrane exocytosis protein 1 isoform 61
NM_001350468.2 NP_001337397.1 regulating synaptic membrane exocytosis protein 1 isoform 62
NM_001350469.2 NP_001337398.1 regulating synaptic membrane exocytosis protein 1 isoform 63
NM_001350470.2 NP_001337399.1 regulating synaptic membrane exocytosis protein 1 isoform 64 precursor
NM_001350471.2 NP_001337400.1 regulating synaptic membrane exocytosis protein 1 isoform 65
NM_001350472.2 NP_001337401.1 regulating synaptic membrane exocytosis protein 1 isoform 66 precursor
NM_001350473.2 NP_001337402.1 regulating synaptic membrane exocytosis protein 1 isoform 67 precursor
NM_001350474.2 NP_001337403.1 regulating synaptic membrane exocytosis protein 1 isoform 68 precursor
NM_014989.7 NP_055804.2 regulating synaptic membrane exocytosis protein 1 isoform 1

Gene Ontology

  • Molecular Function
  • Biological Process
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
11438518 GOA
Biological Process GO Annotation Evidence References Source
involved in acrosomal vesicle exocytosis IDA
IDA: Inferred from direct assay
22248876 GOA
involved in positive regulation of dendrite extension IDA
IDA: Inferred from direct assay
23999003 GOA
involved in protein-containing complex assembly IDA
IDA: Inferred from direct assay
11438518 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

RIMS1 Protein Structure

FYVE_2

FYVE_2: FYVE-type zinc finger (97 - 180)

PDZ

PDZ: PDZ domain (Also known as DHR or GLGF) (606 - 687)

C2

C2: C2 domain (759 - 848)

C2

C2: C2 domain (1553 - 1639)

  • 0
  • 300
  • 600
  • 900
  • 1200
  • 1500
  • 1692 a.a.
Protein Preferred Names Protein Names

regulating synaptic membrane exocytosis protein 1

  • RAB3-interacting protein 2

RIMS1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
RIMS1 Q86UR5 ABL1 Homo sapiens P00519
Peptide Array
17474147
Intra
RIMS1 Q86UR5 FYN Homo sapiens P06241
Peptide Array
17474147
Intra
RIMS1 Q86UR5 FYN Homo sapiens P06241
Anti Bait CoIP
37207277
Intra
RIMS1 Q86UR5 SRPK2 Homo sapiens P78362
Anti Bait CoIP
37207277
Intra
RIMS1 Q86UR5 MARK3 Homo sapiens P27448
Anti Bait CoIP
37207277
Intra
RIMS1 Q86UR5 FXR1 Homo sapiens P51114
Anti Bait CoIP
37207277
Intra
RIMS1 Q86UR5 RALY Homo sapiens Q9UKM9
Anti Bait CoIP
37207277
Intra
RIMS1 Q86UR5 GABBR2 Homo sapiens O75899
Anti Bait CoIP
37207277
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Cone-Rod Dystrophy 7

  • CORD7

  • Dystrophy, Cone-Rod, Type 7

  • Retinitis Pigmentosa 7
Gyrate Atrophy Of Choroid And Retina

  • Gyrate Atrophy

  • Ornithine Aminotransferase Deficiency

  • HOGA

  • Hyperornithinemia With Gyrate Atrophy Of Choroid And Retina

  • Oat Deficiency

  • Okt Deficiency

  • Hyperornithinemia

  • Ornithine Keto Acid Aminotransferase Deficiency

  • Ornithine-Delta-Aminotransferase Deficiency

  • Gyrate Atrophy Of The Choroid And Retina

  • GACR

  • Gyrate Atrophy Of Choroid And Retina With Or Without Ornithinemia

  • Gyrate Atrophy Of The Retina

  • Ornithinemia With Gyrate Atrophy

  • Ornithinemia

  • Fuchs Atrophia Gyrata Chorioideae Et Retinae

  • Hyperornithinemia-Gyrate Atrophy Of Choroid And Retina Syndrome

  • Gyrate Atrophy Of The Choroid And/Or Retina

  • Girate Atrophy Of The Retina

  • Ornithine Ketoacid Aminotransferase Deficiency

  • Atrophy, Gyrate, Of Choroid And Retina
Cone-Rod Dystrophy 2

  • Cone-Rod Dystrophy

  • CORD2

  • Cone-Rod Retinal Dystrophy

  • Rcrd2

  • Cone-Rod Retinal Dystrophy 2

  • Crd2

  • Cord

  • Crd

  • Retinal Cone-Rod Dystrophy

  • Cone-Rod Retinal Dystrophy-2

  • Retinal Cone-Rod Dystrophy 2

  • Tapetoretinal Degeneration

  • Cone-Rod Degeneration

  • Cone Rod Dystrophy

  • Dystrophy, Cone-Rod

  • Dystrophy, Cone-Rod, Type 2

  • Retinitis Pigmentosa

  • Retinitis Pigmentosa 2

  • Progressive Cone-Rod Dystrophy
Retinal Cone Dystrophy 1

  • RCD1

  • Retinal Cone Dystrophy-1

  • Retinal Cone Degeneration

  • Cone Dystrophy, Autosomal Dominant

  • Cone Dystrophy Autosomal Dominant

  • Doid:0081024
Cone-Rod Dystrophy 17

  • CORD17
Retinitis Pigmentosa

  • RP

  • Rod-Cone Dystrophy

  • Autosomal Recessive Retinitis Pigmentosa

  • Non-Syndromic Retinitis Pigmentosa

  • Pericentral Pigmentary Retinopathy

  • Pigmentary Retinopathy

  • Tapetoretinal Degeneration

  • Rcd

  • Retinitis Pigmentosa Autosomal Recessive

  • ARRP

  • Retinitis Pigmentosa, Autosomal Recessive

  • Retinitis Pigmentosa 1
Hereditary Choroidal Atrophy

  • Hereditary Choroidal Dystrophy
Partial Central Choroid Dystrophy

  • Choroidal Dystrophy, Central Areolar
Cone-Rod Dystrophy 3

  • CORD3

  • Dystrophy, Cone Rod, Type 3
Martsolf Syndrome 1

  • Martsolf Syndrome

  • Cataract-Intellectual Disability-Hypogonadism Syndrome

  • MARTS1

  • Marts

  • Cataract-Mental Retardation-Hypogonadism

  • Martsolf
Choroidal Dystrophy, Central Areolar, 1

  • Choroidal Sclerosis

  • Choroidal Dystrophy

  • Choroidal Dystrophy, Central Areolar

  • Cacd

  • Central Areolar Choroidal Dystrophy

  • CACD1

  • Choroidal Dystrophy, Central Areolar 1

  • Choroidal Dystrophy Central Areolar

  • Central Areolar Choroidal Sclerosis

  • Choroidal Degenerations

  • Areolar Atrophy Of The Macula

  • Partial Central Choroid Dystrophy

  • Degenerative Choroidopathy

  • Chorioretinal Degeneration

  • Hereditary Chorioretinal Degeneration

  • Hereditary Degeneration Of Choroid

  • Hereditary Choroidal Dystrophies

  • Generalised Choroidal Dystrophy

  • Hereditary Choroidopathy
Autism Spectrum Disorder

  • Asd

  • Autism Spectrum Disorders

  • Autistic Continuum

  • Pervasive Developmental Disorder

  • Pervasive Development Disorder

  • Autistic Behavior

  • Autistic Disorder

  • Autistic

  • Autistic Disorder Of Childhood Onset

  • Infantile Autism

  • Childhood Autism

  • Kanner Syndrome

  • Pervasive Developmental Delay Nos

  • Pervasive Developmental Disorder, Not Otherwise Specified
Autism

  • Autistic Disorder

  • Autism Susceptibility 1

  • Childhood Autism

  • Autistic Disorder Of Childhood Onset

  • Infantile Autism

  • Kanner'S Syndrome

  • Autistic
Cone Dystrophy

  • Retinal Cone Dystrophy

  • Dystrophy, Cone

  • Cone Dystrophy 3
Congenital Stationary Night Blindness

  • Night Blindness, Congenital Stationary

  • Congenital Essential Nyctalopia

  • Oguchi Disease

  • Blindness, Night, Stationary, Congenital
Fundus Dystrophy

  • Retinal Dystrophy

  • Retinal Dystrophies

  • Dystrophy, Retinal
Leber Plus Disease

  • Leber Congenital Amaurosis

  • Lca

  • Leber'S Amaurosis

  • Leber'S Disease

  • Amaurosis Congenita Of Leber

  • Amaurosis Congenita Of Leber, Type 1

  • Lhon Plus Disease

  • Congenital Absence Of The Rods And Cones

  • Congenital Retinal Blindness

  • Crb

  • Congenital Amaurosis Of Retinal Origin

  • Leber'S Congenital Amaurosis

  • Leber Congenital Amaurosis 1

  • Leber'S Congenital Tapetoretinal Degeneration

  • Leber'S Congenital Tapetoretinal Dysplasia

  • Lca1

  • Leber Congenital Amaurosis Type 1

  • Retinal Blindness, Congenital

  • Amaurosis, Leber Congenital

  • Dysgenesis Neuroepithelialis Retinae

  • Hereditary Epithelial Dysplasia Of Retina

  • Hereditary Retinal Aplasia

  • Heredoretinopathia Congenitalis

  • Leber Abiotrophy

  • Leber Congenital Tapetoretinal Degeneration

  • Lebers Congenital Amaurosis

  • Optic Atrophy, Hereditary, Leber
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (2)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-D1751 RIM-1 / Unkown
HY-RS11978 RIMS1 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Macaca mulatta RIMS1 VGNC VGNC:76748
Felis catus RIMS1 VGNC VGNC:102502
Canis familiaris RIMS1 VGNC VGNC:45582
Rattus norvegicus RIMS1 RGD RGD:620000
Bos taurus RIMS1 VGNC VGNC:53801
Mus musculus RIMS1 MGD MGI:2152971
Others RIMS1 NCBI