2. Gene
  3. RIMS1 - regulating synaptic membrane exocytosis 1 Gene

RIMS1 - regulating synaptic membrane exocytosis 1 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：调节突触膜胞吐作用 1

种属: Homo sapiens

同用名: RIM; RIM1; CORD7; RAB3IP2

基因 ID: 22999 | 基因类型: protein coding

关于 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.

功能概要

该基因编码的蛋白质是 Ras 基因超家族成员，可调节突触小泡胞吐作用。该基因还在神经递质和胰岛素释放过程中调节电压门控钙通道。突变表明了角色认知，并已被确定为 7 型锥杆营养不良的原因。已针对该基因描述了编码不同亚型的多种转录本变体。[RefSeq 提供，2012 年 3 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
11438518 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in acrosomal vesicle exocytosis IDA
IDA: 通过直接分析推断
22248876 GOA
involved in positive regulation of dendrite extension IDA
IDA: 通过直接分析推断
23999003 GOA
involved in protein-containing complex assembly IDA
IDA: 通过直接分析推断
11438518 GOA
EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

RIMS1 蛋白结构

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.
蛋白主名 其他名称

regulating synaptic membrane exocytosis protein 1

RAB3-interacting protein 2

RIMS1 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
RIMS1 Q86UR5 ABL1 Homo sapiens P00519
Peptide Array
17474147
种属内
RIMS1 Q86UR5 FYN Homo sapiens P06241
Peptide Array
17474147
种属内
RIMS1 Q86UR5 FYN Homo sapiens P06241
Anti Bait CoIP
37207277
种属内
RIMS1 Q86UR5 SRPK2 Homo sapiens P78362
Anti Bait CoIP
37207277
种属内
RIMS1 Q86UR5 MARK3 Homo sapiens P27448
Anti Bait CoIP
37207277
种属内
RIMS1 Q86UR5 FXR1 Homo sapiens P51114
Anti Bait CoIP
37207277
种属内
RIMS1 Q86UR5 RALY Homo sapiens Q9UKM9
Anti Bait CoIP
37207277
种属内
RIMS1 Q86UR5 GABBR2 Homo sapiens O75899
Anti Bait CoIP
37207277
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
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
疾病名称 别名
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

相关产品

Pre-clinical Phase
生物活性分子 (2)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-D1751 RIM-1 / 否
HY-RS11978 RIMS1 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 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
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