SIGMAR1 - sigma non-opioid intracellular receptor 1 Gene

中文名称：西格玛非阿片类细胞内受体 1

种属: Homo sapiens

同用名: SRBP; ALS16; DSMA2; OPRS1; SR-BP; SIG-1R; SR-BP1; sigma1R; hSigmaR1

基因 ID: 10280 | 基因类型: protein coding

关于 SIGMAR1

Cytogenetic location: 9p13.3 Genomic coordinates (GRCh38): 9:34,634,722-34,637,787 (from NCBI)

This gene has 13 transcripts (splice variants), 206 orthologues and is associated with 4 phenotypes. Ubiquitous expression in liver (RPKM 44.6), duodenum (RPKM 22.5) and 25 other tissues.

功能概要

该基因编码一种受体蛋白，该蛋白与多种拟精神病药物相互作用，包括可卡因和苯丙胺。该受体被认为在与内分泌、免疫和神经系统相关的各种组织的细胞功能中发挥重要作用。正如其之前的名称阿片受体 sigma 1 (OPRS1) 所示，该基因的产物被错误地认为具有阿片受体的功能；它现在被认为是一种非阿片受体。该基因的突变与幼年肌萎缩性侧索硬化症 16 有关。该基因的可变剪接导致编码不同亚型的转录变体。[RefSeq 提供，2013 年 8 月]

This gene encodes a receptor protein that interacts with a variety of psychotomimetic drugs, including cocaine and amphetamines. The receptor is believed to play an important role in the cellular functions of various tissues associated with the endocrine, immune, and nervous systems. As indicated by its previous name, Opioid Receptor sigma 1 (OPRS1), the product of this gene was erroneously thought to function as an opioid receptor; it is now thought to be a non-opioid receptor. Mutations in this gene has been associated with juvenile amyotrophic lateral sclerosis 16. Alternative splicing of this gene results in transcript variants encoding distinct isoforms. [provided by RefSeq, Aug 2013]

SIGMAR1 基因产物(11)

mRNA	Protein	Name
NM_001282208.2	NP_001269137.1	sigma non-opioid intracellular receptor 1 isoform 9
NM_147159.1
NM_147157.3	NP_671513.1	sigma non-opioid intracellular receptor 1 isoform 2
NR_104108.2
NM_001282206.2	NP_001269135.1	sigma non-opioid intracellular receptor 1 isoform 7
NM_147160.2
NM_001282209.2	NP_001269138.1	sigma non-opioid intracellular receptor 1 isoform 10
NM_147158.1
NM_001282207.2	NP_001269136.1	sigma non-opioid intracellular receptor 1 isoform 8
NM_001282205.2	NP_001269134.1	sigma non-opioid intracellular receptor 1 isoform 6
NM_005866.4	NP_005857.1	sigma non-opioid intracellular receptor 1 isoform 1

基因本体论

分子功能
生物过程
细胞组分

分子功能 GO 注释	逻辑证据	参考文献	来源
enables identical protein binding	IPI IPI: 通过物理相互作用推断	27042935	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	29876881	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in protein homotrimerization	IPI IPI: 通过物理相互作用推断	27042935	GOA
involved in regulation of neuron apoptotic process	IMP IMP: 通过突变表型推断	21842496	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in endoplasmic reticulum	IDA IDA: 通过直接分析推断	10406945	GOA
located in membrane	IDA IDA: 通过直接分析推断	8954936	GOA
located in nuclear envelope	IDA IDA: 通过直接分析推断	9341151	GOA
located in postsynaptic density	IDA IDA: 通过直接分析推断	23314020	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

SIGMAR1 蛋白结构

ERG2_Sigma1R

0
100
200
223 a.a.

蛋白主名

其他名称

sigma non-opioid intracellular receptor 1

SR31747 binding protein 1	aging-associated gene 8 protein
sigma 1-type opioid receptor

SIGMAR1 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
Intra	SIGMAR1	Q99720	GHSR	Homo sapiens	Q92847-1	BRET	29876881
Intra	SIGMAR1	Q99720	GHSR	Homo sapiens	Q92847-1	Confocal	29876881

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

Alzheimer Disease 7

Ad7	Alzheimer'S Disease 7
Alzheimer Disease, Familial, 7	Alzheimer Disease-7
Alzheimer Disease, Familial 7

Charcot-Marie-Tooth Disease

Cmt	Hmsn
Hereditary Motor And Sensory Neuropathy	Pma
Cmt - Charcot-Marie-Tooth Disease	Charcot Marie Tooth Disease
Charcot-Marie-Tooth Hereditary Neuropathy	Charcot-Marie-Tooth Syndrome
Peroneal Muscular Atrophy	Hereditary Motor And Sensory Neuropathies

Muscular Atrophy

Muscle Wasting	Amyotrophia
Wasting - Muscle	Skeletal Muscle Atrophy

Amyotrophic Lateral Sclerosis Type 14

Als14	Amyotrophic Lateral Sclerosis 14
Amyotrophic Lateral Sclerosis, With Or Without Frontotemporal Dementia	Amyotrophic Lateral Sclerosis 14 With Or Without Frontotemporal Dementia

Gestational Choriocarcinoma

Gestational Chorionepithelioma

Molar Pregnancy With Choriocarcinoma

Late-Onset Retinal Degeneration

LORD	Retinal Degeneration, Late-Onset, Autosomal Dominant
Autosomal Dominant Late-Onset Retinal Degeneration	Pigmentary Retinopathy
Retinal Degeneration, Late-Onset	Retinitis Pigmentosa

Schizophrenia

SCZD	Schizophrenia With Or Without An Affective Disorder
Schizophrenia 12	Schizophrenia, Susceptibility To
Schizophrenia-1	Dementia Praecox
Schizophrenia 1

Motor Neuron Disease

Anterior Horn Cell Disease	Motor Neuron Diseases
Mnd - [Motor Neurone Disease]	Lou Gehrig Disease
Creeping Palsy	Creeping Paralysis
Bulbar Motor Neuron Disease	Bulbar Syndrome
Anterior Horn Cell Disorder	Hereditary Motor Neuron Disease

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

Placental Choriocarcinoma

Choriocarcinoma Of The Placenta

Cocaine Abuse

Cocaine-Related Disorders

Hereditary Spastic Paraplegia

Familial Spastic Paraplegia	Hereditary Spastic Paraparesis
Strumpell-Lorrain Disease	Hsp
Spg	Strümpell-Lorrain Disease
Spastic Paraplegia, Hereditary	French Settlement Disease
Strumpell-Lorrain Syndrome	Fsp
Familial Spastic Paraparesis	Spastic Paraplegia, Familial
Spastic Paraplegia Hereditary	Spastic Paraplegia 3, Autosomal Dominant
Spastic Paraparesis	Hereditary Spastic Paralysis
Familial Spastic Paralysis	Hereditary Spastic Ataxia

Juvenile Amyotrophic Lateral Sclerosis

Jals	Juvenile Charcot Disease
Juvenile Lou Gehrig Disease	Amyotrophic Lateral Sclerosis, Juvenile

Ritscher-Schinzel Syndrome 1

3c Syndrome	Craniocerebellocardiac Dysplasia
RTSC1	Dandy-Walker-Like Malformation With Atrioventricular Septal Defect
Dandy-Walker Like Malformation With Atrioventricular Septal Defect	Cranio-Cerebello-Cardiac Dysplasia
Dandy-Walker-Like Malformation With Asd	Ritscher Schinzel Syndrome
Ritscher-Schinzel Cranio-Cerebello-Cardiac Syndrome	Ritscher-Schinzel Syndrome
3c

Amyotrophic Lateral Sclerosis Type 6

Amyotrophic Lateral Sclerosis 6, Autosomal Recessive	Als6
Amyotrophic Lateral Sclerosis 6, With Or Without Frontotemporal Dementia	Autosomal Recessive Amyotrophic Lateral Sclerosis 6
Sclerosis, Lateral, Amyotrophic, Type Type 6	Amyotrophic Lateral Sclerosis 6

Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2

Spinal Muscular Atrophy, Jerash Type	DSMA2
Neuropathy, Distal Hereditary Motor, Jerash Type	Hmnj
Autosomal Recessive Distal Spinal Muscular Atrophy 2	Neuronopathy, Distal Hereditary Motor, Jerash Type
Distal Spinal Muscular Atrophy 2	Dhmnj
Hereditary Motor Neuropathy, Jerash Type	Motor Neuropathy, Distal, Jerash Type
Distal Hereditary Motor Neuropathy, Jerash Type	Distal Hereditary Motor Neuropathy Jerash Type
Spinal Muscular Atrophy Jerash Type	Mndj
Autosomal Recessive Distal Spinal Muscular Atrophy Type 2	Distal Spinal Muscular Atrophy, Autosomal Recessive, 2
Atrophy, Muscular, Spinal, Distal, Autosomal Recessive, Type 2

Lateral Sclerosis

Primary Lateral Sclerosis	Adult-Onset Primary Lateral Sclerosis
Adult-Onset Pls	Motor Neuron Disease
Pls	Pls - [Primary Lateral Sclerosis]
Lateral Spinal Sclerosis	Lateral Complete Paralysis
Lateral Incomplete Paralysis	Lateral Paralysis

Dissociative Amnesia

Psychogenic Amnesia	Amnesia, Dissociative
Amnesia, Psychogenic	Amnesia Neurosis
Hysterical Fugue	Dissociative Fugue

Spinal Muscular Atrophy

Sma	5q Sma
Proximal Sma	Sma-Associated Sma
Spinal Amyotrophies	Spinal Amyotrophy
Spinal Muscle Degeneration	Spinal Muscle Wasting
Muscular Atrophy Spinal	Atrophy, Muscular, Spinal
Hereditary Motor Neuronopathy	Progressive Muscular Atrophy
Sma - [Spinal Muscular Atrophy]

Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1

FTDALS1	Frontotemporal Dementia And/Or Motor Neuron Disease
Ftdmnd	Amyotrophic Lateral Sclerosis And/Or Frontotemporal Dementia
Alsftd	Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis-1	Frontotemporal Dementia With Motor Neuron Disease
Ftdals	Ftd-Als
Ftd-Mnd	Frontotemporal Dementia With Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis With Frontotemporal Dementia 1	Amyotrophic Lateral Sclerosis/Frontotemporal Dementia
Dementia, Frontotemporal, And/Or Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis And/Or Frontotemporal Dementia 1
Frontotemporal Lobar Degeneration	Grn-Related Frontotemporal Dementia

Amyotrophic Lateral Sclerosis 18

Amyotrophic Lateral Sclerosis Type 18	ALS18
Sclerosis, Lateral, Amyotrophic, Type 18

Amyotrophic Lateral Sclerosis 1

Amyotrophic Lateral Sclerosis	ALS
Lou Gehrig Disease	Amyotrophic Lateral Sclerosis Type 1
Charcot Disease	ALS1
Amyotrophic Lateral Sclerosis, Susceptibility To	Fals
Lou Gehrig'S Disease	Mnd
Motor Neuron Disease	Familial Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 1, Familial	Amyotrophic Lateral Sclerosis 1, Autosomal Dominant
Motor Neuron Disease, Bulbar	Motor Neurone Disease
Amyotrophic Lateral Sclerosis With Dementia	Dementia With Amyotrophic Lateral Sclerosis
Motor Neuron Disease, Amyotrophic Lateral Sclerosis	Sclerosis, Lateral, Amyotrophic
Sclerosis, Lateral, Amyotrophic, Type 1	Amyotrophic Sclerosis
Als - [Amyotrophic Lateral Sclerosis]	Wasting Palsy
Amyotrophic Paralysis	Amyotrophy Lateral Sclerosis
Wasting Paralysis	Spinal Progressive Amyotrophy
Progressive Atrophic Paralysis

Amyotrophic Lateral Sclerosis Type 15

Amyotrophic Lateral Sclerosis 15, With Or Without Frontotemporal Dementia	Als15
Amyotrophic Lateral Sclerosis 15

Amyotrophic Lateral Sclerosis 16, Juvenile

Amyotrophic Lateral Sclerosis Type 16	ALS16
Amyotrophic Lateral Sclerosis 16	Sclerosis, Lateral, Amyotrophic, Type 16, Juvenile

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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS12908	SIGMAR1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否
HY-RS12909	Sigmar1 Mouse Pre-designed siRNA Set A	Pre-designed Sets	/	否
HY-RS12910	Sigmar1 Rat Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Bos taurus	SIGMAR1	VGNC	VGNC:34619
Mus musculus	SIGMAR1	MGD	MGI:1195268
Rattus norvegicus	SIGMAR1	RGD	RGD:68364
Felis catus	SIGMAR1	VGNC	VGNC:68636
Canis familiaris	SIGMAR1	VGNC	VGNC:46170
Macaca mulatta	SIGMAR1	VGNC	VGNC:77361
Others	SIGMAR1	NCBI

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