SIGMAR1 - sigma non-opioid intracellular receptor 1 Gene

Also Known as SRBP; ALS16; DSMA2; OPRS1; SR-BP; SIG-1R; SR-BP1; sigma1R; hSigmaR1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 10280

About 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.

Summary

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 Products (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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables identical protein binding	IPI IPI: Inferred from physical interaction	27042935	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	29876881	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in protein homotrimerization	IPI IPI: Inferred from physical interaction	27042935	GOA
involved in regulation of neuron apoptotic process	IMP IMP: Inferred from mutant phenotype	21842496	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in endoplasmic reticulum	IDA IDA: Inferred from direct assay	10406945	GOA
located in membrane	IDA IDA: Inferred from direct assay	8954936	GOA
located in nuclear envelope	IDA IDA: Inferred from direct assay	9341151	GOA
located in postsynaptic density	IDA IDA: Inferred from direct assay	23314020	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

SIGMAR1 Protein Structure

ERG2_Sigma1R

0
100
200
223 a.a.

Protein Preferred Names	Protein Names
sigma non-opioid intracellular receptor 1	SR31747 binding protein 1 aging-associated gene 8 protein sigma 1-type opioid receptor

SIGMAR1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	SIGMAR1	Q99720	GHSR	Homo sapiens	Q92847-1	BRET	29876881
Intra	SIGMAR1	Q99720	GHSR	Homo sapiens	Q92847-1	Confocal	29876881

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
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

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 (4)

Cat. No.	Product Name	Purity	Rare Diseases
HY-N0837	Veratramine	99.88%	Unkown
HY-RS12909	Sigmar1 Mouse Pre-designed siRNA Set A	/	Unkown
HY-RS12910	Sigmar1 Rat Pre-designed siRNA Set A	/	Unkown
HY-RS12908	SIGMAR1 Human Pre-designed siRNA Set A	/	Unkown

Orthologs Information

Species	Symbol	Source	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