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Entry version 159 (16 Oct 2019)
Sequence version 1 (01 May 1997)
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Protein

Sigma non-opioid intracellular receptor 1

Gene

SIGMAR1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Functions in lipid transport from the endoplasmic reticulum and is involved in a wide array of cellular functions probably through regulation of the biogenesis of lipid microdomains at the plasma membrane. Involved in the regulation of different receptors it plays a role in BDNF signaling and EGF signaling. Also regulates ion channels like the potassium channel and could modulate neurotransmitter release. Plays a role in calcium signaling through modulation together with ANK2 of the ITP3R-dependent calcium efflux at the endoplasmic reticulum. Plays a role in several other cell functions including proliferation, survival and death. Originally identified for its ability to bind various psychoactive drugs it is involved in learning processes, memory and mood alteration (PubMed:16472803, PubMed:9341151). Necessary for proper mitochondrial axonal transport in motor neurons, in particular the retrograde movement of mitochondria. Plays a role in protecting cells against oxidative stress-induced cell death via its interaction with RNF112 (By similarity).By similarity2 Publications

Miscellaneous

Depletion by RNAi inhibits growth and survival signaling cascades and induces cell death. The antagonist rimcazole produces the same effect.
Sigma receptors are classified into two subtypes (Sigma-1 and Sigma-2) based on their different pharmacological profile.1 Publication

Caution

The NMR solution structure identifies a second transmembrane helix starting with Gly-91 (PubMed:25647032). The X-ray structure clearly shows that this region is not helical and not in the membrane; instead it is part of two beta-strands (PubMed:27042935).2 Publications

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection describes interesting single amino acid sites on the sequence that are not defined in any other subsection. This subsection can be displayed in different sections (‘Function’, ‘PTM / Processing’, ‘Pathology and Biotech’) according to its content.<p><a href='/help/site' target='_top'>More...</a></p>Sitei126Important for ligand binding1 Publication1
Sitei172Important for ligand binding1 Publication1

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionReceptor
Biological processLipid transport, Transport

Enzyme and pathway databases

SIGNOR Signaling Network Open Resource

More...
SIGNORi
Q99720

Protein family/group databases

Transport Classification Database

More...
TCDBi
8.A.63.1.1 the sigma non-opioid intracellular recpetor, (s1r) family

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Sigma non-opioid intracellular receptor 1
Alternative name(s):
Aging-associated gene 8 protein
SR31747-binding protein
Short name:
SR-BP
Sigma 1-type opioid receptor
Short name:
SIG-1R
Short name:
Sigma1-receptor
Short name:
Sigma1R
Short name:
hSigmaR1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:SIGMAR1
Synonyms:OPRS1, SRBP
ORF Names:AAG8
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 9

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:8157 SIGMAR1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
601978 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q99720

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini1 – 9Lumenal1 Publication9
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei10 – 30Helical1 PublicationAdd BLAST21
Topological domaini31 – 223Cytoplasmic1 PublicationAdd BLAST193

Keywords - Cellular componenti

Cell junction, Cell membrane, Cell projection, Cytoplasmic vesicle, Endoplasmic reticulum, Lipid droplet, Membrane, Nucleus, Postsynaptic cell membrane, Synapse

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Amyotrophic lateral sclerosis 16, juvenile (ALS16)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_067311102E → Q in ALS16; the mutation decreases the viability of motor neurons; the mutant protein is shifted to lower density membranes and forms detergent-resistant complexes; there is an almost 2-fold increase in apoptosis in response to stress compared to controls. 1 PublicationCorresponds to variant dbSNP:rs387906829EnsemblClinVar.1
Distal spinal muscular atrophy, autosomal recessive, 2 (DSMA2)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive neuromuscular disorder characterized by onset of distal muscle weakness and wasting affecting the lower and upper limbs in the first decade. There is no sensory involvement.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07881665L → Q in DSMA2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs140376902Ensembl.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi123E → G: No effect on ligand-binding. 1 Publication1
Mutagenesisi126D → G: Reduces ligand-binding. No effect on subcellular localization. 1 Publication1
Mutagenesisi138E → G: No effect on ligand-binding. 1 Publication1
Mutagenesisi144E → G: No effect on ligand-binding. 1 Publication1
Mutagenesisi150E → G: No effect on ligand-binding. 1 Publication1
Mutagenesisi158E → G: No effect on ligand-binding. 1 Publication1
Mutagenesisi163E → G: No effect on ligand-binding. 1 Publication1
Mutagenesisi172E → G: Reduces ligand-binding. No effect on subcellular localization. 1 Publication1
Mutagenesisi188D → G: No effect on ligand-binding. 1 Publication1
Mutagenesisi195D → G: No effect on ligand-binding. 1 Publication1
Mutagenesisi213E → G: No effect on ligand-binding. 1 Publication1

Keywords - Diseasei

Amyotrophic lateral sclerosis, Disease mutation, Neurodegeneration

Organism-specific databases

DisGeNET

More...
DisGeNETi
10280

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...
GeneReviewsi
SIGMAR1

MalaCards human disease database

More...
MalaCardsi
SIGMAR1
MIMi605726 phenotype
614373 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000147955

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
139552 Distal hereditary motor neuropathy, Jerash type
300605 Juvenile amyotrophic lateral sclerosis

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA164725706

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q99720

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL287

Drug and drug target database

More...
DrugBanki
DB00321 Amitriptyline
DB09014 Captodiame
DB00907 Cocaine
DB00514 Dextromethorphan
DB01488 Dimethyltryptamine
DB00540 Nortriptyline
DB06174 Noscapine
DB00652 Pentazocine
DB11186 Pentoxyverine
DB03575 Phencyclidine
DB01708 Prasterone
DB00409 Remoxipride
DB01104 Sertraline

DrugCentral

More...
DrugCentrali
Q99720

IUPHAR/BPS Guide to PHARMACOLOGY

More...
GuidetoPHARMACOLOGYi
2552

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
SIGMAR1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
74752153

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002686521 – 223Sigma non-opioid intracellular receptor 1Add BLAST223

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q99720

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q99720

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q99720

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q99720

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q99720

PeptideAtlas

More...
PeptideAtlasi
Q99720

PRoteomics IDEntifications database

More...
PRIDEi
Q99720

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
78435 [Q99720-1]
78436 [Q99720-2]
78437 [Q99720-3]
78438 [Q99720-4]
78439 [Q99720-5]

Consortium for Top Down Proteomics

More...
TopDownProteomicsi
Q99720-1 [Q99720-1]
Q99720-2 [Q99720-2]
Q99720-3 [Q99720-3]
Q99720-4 [Q99720-4]
Q99720-5 [Q99720-5]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q99720

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q99720

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
Q99720

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Widely expressed with higher expression in liver, colon, prostate, placenta, small intestine, heart and pancreas. Expressed in the retina by retinal pigment epithelial cells. Expressed in alpha-motor neurons (PubMed:23314020).4 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000147955 Expressed in 223 organ(s), highest expression level in right lobe of liver

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q99720 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q99720 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
CAB013470
HPA018002
HPA024071

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Homotrimer (PubMed:27042935).

Forms a ternary complex with ANK2 and ITPR3. The complex is disrupted by agonists.

Interacts with KCNA4.

Interacts with KCNA2; cocaine consumption leads to increased interaction.

Interacts with RNF112 in an oxidative stress-regulated manner (By similarity).

By similarity1 Publication

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

WithEntry#Exp.IntActNotes
DRD2P144165EBI-3248663,EBI-2928178

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
115569, 17 interactors

CORUM comprehensive resource of mammalian protein complexes

More...
CORUMi
Q99720

Database of interacting proteins

More...
DIPi
DIP-61974N

The Eukaryotic Linear Motif resource for Functional Sites in Proteins

More...
ELMi
Q99720

Protein interaction database and analysis system

More...
IntActi
Q99720, 9 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000277010

Chemistry databases

BindingDB database of measured binding affinities

More...
BindingDBi
Q99720

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1223
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
Q99720

Database of comparative protein structure models

More...
ModBasei
Search...

Protein Data Bank in Europe - Knowledge Base

More...
PDBe-KBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni2 – 8Targeting to endoplasmic reticulum-associated lipid dropletsBy similarity7
Regioni99 – 106Important for ligand-bindingBy similarity8
Regioni177 – 223C-terminal hydrophobic region1 PublicationAdd BLAST47

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The C-terminal helices form a flat, hydrophobic surface that is probably tightly associated with the cytosolic surface of the endoplasmic reticulum membrane.1 Publication

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the ERG2 family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG4143 Eukaryota
ENOG410XP0Z LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000012082

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q99720

KEGG Orthology (KO)

More...
KOi
K20719

Identification of Orthologs from Complete Genome Data

More...
OMAi
ESCFALE

Database of Orthologous Groups

More...
OrthoDBi
1285317at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q99720

TreeFam database of animal gene trees

More...
TreeFami
TF300106

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR006716 ERG2_sigma1_rcpt-like

The PANTHER Classification System

More...
PANTHERi
PTHR10868 PTHR10868, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF04622 ERG2_Sigma1R, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (5+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 5 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 5 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 1 (identifier: Q99720-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MQWAVGRRWA WAALLLAVAA VLTQVVWLWL GTQSFVFQRE EIAQLARQYA
60 70 80 90 100
GLDHELAFSR LIVELRRLHP GHVLPDEELQ WVFVNAGGWM GAMCLLHASL
110 120 130 140 150
SEYVLLFGTA LGSRGHSGRY WAEISDTIIS GTFHQWREGT TKSEVFYPGE
160 170 180 190 200
TVVHGPGEAT AVEWGPNTWM VEYGRGVIPS TLAFALADTV FSTQDFLTLF
210 220
YTLRSYARGL RLELTTYLFG QDP
Length:223
Mass (Da):25,128
Last modified:May 1, 1997 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i0C498636BEB1C443
GO
Isoform 2 (identifier: Q99720-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     31-50: Missing.

Show »
Length:203
Mass (Da):22,803
Checksum:i755BFC0F9182D947
GO
Isoform 3 (identifier: Q99720-3) [UniParc]FASTAAdd to basket
Also known as: Sigma-R1A

The sequence of this isoform differs from the canonical sequence as follows:
     118-148: Missing.

Show »
Length:192
Mass (Da):21,483
Checksum:i9E0C6A120A89126F
GO
Isoform 4 (identifier: Q99720-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     103-106: YVLL → ALLG
     107-223: Missing.

Show »
Length:106
Mass (Da):11,992
Checksum:i8A4FDBFAFF6DAEEE
GO
Isoform 5 (identifier: Q99720-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     31-52: Missing.
     63-76: Missing.

Note: No experimental confirmation available.
Show »
Length:187
Mass (Da):21,013
Checksum:iE50731B80FB98FBF
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
Q5T1J1Q5T1J1_HUMAN
HCG20471, isoform CRA_c
SIGMAR1 hCG_20471
134Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti151T → A in AAF64280 (Ref. 4) Curated1
Sequence conflicti168T → A in ABG29111 (Ref. 6) Curated1
Sequence conflicti208R → W in AAV33304 (Ref. 5) Curated1
Sequence conflicti218L → I in ABG29111 (Ref. 6) Curated1
Sequence conflicti219F → S in BAD96619 (Ref. 9) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0297502Q → P1 PublicationCorresponds to variant dbSNP:rs1800866Ensembl.1
Natural variantiVAR_07881665L → Q in DSMA2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs140376902Ensembl.1
Natural variantiVAR_067311102E → Q in ALS16; the mutation decreases the viability of motor neurons; the mutant protein is shifted to lower density membranes and forms detergent-resistant complexes; there is an almost 2-fold increase in apoptosis in response to stress compared to controls. 1 PublicationCorresponds to variant dbSNP:rs387906829EnsemblClinVar.1
Natural variantiVAR_029751211R → Q1 PublicationCorresponds to variant dbSNP:rs192644838Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_02198131 – 52Missing in isoform 5. 1 PublicationAdd BLAST22
Alternative sequenceiVSP_02198231 – 50Missing in isoform 2. 1 PublicationAdd BLAST20
Alternative sequenceiVSP_02198363 – 76Missing in isoform 5. 1 PublicationAdd BLAST14
Alternative sequenceiVSP_021984103 – 106YVLL → ALLG in isoform 4. 2 Publications4
Alternative sequenceiVSP_021985107 – 223Missing in isoform 4. 2 PublicationsAdd BLAST117
Alternative sequenceiVSP_021986118 – 148Missing in isoform 3. 2 PublicationsAdd BLAST31

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
U75283 mRNA Translation: AAB50402.1
U79528 mRNA Translation: AAB51238.1
AF001977, AF001976 Genomic DNA Translation: AAC04507.1
AF226604 mRNA Translation: AAF64280.1
AY633611 mRNA Translation: AAV33304.1
DQ644568 mRNA Translation: ABG29111.1
DQ647702 mRNA Translation: ABG36559.1
DQ656583 mRNA Translation: ABG46369.1
AK098451 mRNA Translation: BAC05307.1
CR457075 mRNA Translation: CAG33356.1
AK222899 mRNA Translation: BAD96619.1
AL450283 Genomic DNA No translation available.
CH471071 Genomic DNA Translation: EAW58431.1
CH471071 Genomic DNA Translation: EAW58434.1
BC004899 mRNA Translation: AAH04899.1
BC007839 mRNA Translation: AAH07839.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS6562.1 [Q99720-1]
CCDS6563.1 [Q99720-3]

Protein sequence database of the Protein Information Resource

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PIRi
JC5266

NCBI Reference Sequences

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RefSeqi
NP_001269134.1, NM_001282205.1
NP_001269135.1, NM_001282206.1
NP_001269136.1, NM_001282207.1 [Q99720-2]
NP_001269137.1, NM_001282208.1
NP_001269138.1, NM_001282209.1
NP_005857.1, NM_005866.3 [Q99720-1]
NP_671513.1, NM_147157.2 [Q99720-3]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000277010; ENSP00000277010; ENSG00000147955 [Q99720-1]
ENST00000353468; ENSP00000434453; ENSG00000147955 [Q99720-4]
ENST00000477726; ENSP00000420022; ENSG00000147955 [Q99720-3]

Database of genes from NCBI RefSeq genomes

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GeneIDi
10280

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:10280

UCSC genome browser

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UCSCi
uc003zvb.5 human [Q99720-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Wikipedia

Sigma-1 receptor entry

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U75283 mRNA Translation: AAB50402.1
U79528 mRNA Translation: AAB51238.1
AF001977, AF001976 Genomic DNA Translation: AAC04507.1
AF226604 mRNA Translation: AAF64280.1
AY633611 mRNA Translation: AAV33304.1
DQ644568 mRNA Translation: ABG29111.1
DQ647702 mRNA Translation: ABG36559.1
DQ656583 mRNA Translation: ABG46369.1
AK098451 mRNA Translation: BAC05307.1
CR457075 mRNA Translation: CAG33356.1
AK222899 mRNA Translation: BAD96619.1
AL450283 Genomic DNA No translation available.
CH471071 Genomic DNA Translation: EAW58431.1
CH471071 Genomic DNA Translation: EAW58434.1
BC004899 mRNA Translation: AAH04899.1
BC007839 mRNA Translation: AAH07839.1
CCDSiCCDS6562.1 [Q99720-1]
CCDS6563.1 [Q99720-3]
PIRiJC5266
RefSeqiNP_001269134.1, NM_001282205.1
NP_001269135.1, NM_001282206.1
NP_001269136.1, NM_001282207.1 [Q99720-2]
NP_001269137.1, NM_001282208.1
NP_001269138.1, NM_001282209.1
NP_005857.1, NM_005866.3 [Q99720-1]
NP_671513.1, NM_147157.2 [Q99720-3]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5HK1X-ray2.51A/B/C1-223[»]
5HK2X-ray3.20A/B/C1-223[»]
6DJZX-ray3.08A/B/C1-223[»]
6DK0X-ray2.90A/B/C1-223[»]
6DK1X-ray3.12A/B/C1-223[»]
SMRiQ99720
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGridi115569, 17 interactors
CORUMiQ99720
DIPiDIP-61974N
ELMiQ99720
IntActiQ99720, 9 interactors
STRINGi9606.ENSP00000277010

Chemistry databases

BindingDBiQ99720
ChEMBLiCHEMBL287
DrugBankiDB00321 Amitriptyline
DB09014 Captodiame
DB00907 Cocaine
DB00514 Dextromethorphan
DB01488 Dimethyltryptamine
DB00540 Nortriptyline
DB06174 Noscapine
DB00652 Pentazocine
DB11186 Pentoxyverine
DB03575 Phencyclidine
DB01708 Prasterone
DB00409 Remoxipride
DB01104 Sertraline
DrugCentraliQ99720
GuidetoPHARMACOLOGYi2552

Protein family/group databases

TCDBi8.A.63.1.1 the sigma non-opioid intracellular recpetor, (s1r) family

PTM databases

iPTMnetiQ99720
PhosphoSitePlusiQ99720
SwissPalmiQ99720

Polymorphism and mutation databases

BioMutaiSIGMAR1
DMDMi74752153

Proteomic databases

EPDiQ99720
jPOSTiQ99720
MassIVEiQ99720
MaxQBiQ99720
PaxDbiQ99720
PeptideAtlasiQ99720
PRIDEiQ99720
ProteomicsDBi78435 [Q99720-1]
78436 [Q99720-2]
78437 [Q99720-3]
78438 [Q99720-4]
78439 [Q99720-5]
TopDownProteomicsiQ99720-1 [Q99720-1]
Q99720-2 [Q99720-2]
Q99720-3 [Q99720-3]
Q99720-4 [Q99720-4]
Q99720-5 [Q99720-5]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
10280

Genome annotation databases

EnsembliENST00000277010; ENSP00000277010; ENSG00000147955 [Q99720-1]
ENST00000353468; ENSP00000434453; ENSG00000147955 [Q99720-4]
ENST00000477726; ENSP00000420022; ENSG00000147955 [Q99720-3]
GeneIDi10280
KEGGihsa:10280
UCSCiuc003zvb.5 human [Q99720-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
10280
DisGeNETi10280

GeneCards: human genes, protein and diseases

More...
GeneCardsi
SIGMAR1
GeneReviewsiSIGMAR1
HGNCiHGNC:8157 SIGMAR1
HPAiCAB013470
HPA018002
HPA024071
MalaCardsiSIGMAR1
MIMi601978 gene
605726 phenotype
614373 phenotype
neXtProtiNX_Q99720
OpenTargetsiENSG00000147955
Orphaneti139552 Distal hereditary motor neuropathy, Jerash type
300605 Juvenile amyotrophic lateral sclerosis
PharmGKBiPA164725706

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG4143 Eukaryota
ENOG410XP0Z LUCA
GeneTreeiENSGT00390000012082
InParanoidiQ99720
KOiK20719
OMAiESCFALE
OrthoDBi1285317at2759
PhylomeDBiQ99720
TreeFamiTF300106

Enzyme and pathway databases

SIGNORiQ99720

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
SIGMAR1 human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
Sigma-1_receptor

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
10280
PharosiQ99720

Protein Ontology

More...
PROi
PR:Q99720

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000147955 Expressed in 223 organ(s), highest expression level in right lobe of liver
ExpressionAtlasiQ99720 baseline and differential
GenevisibleiQ99720 HS

Family and domain databases

InterProiView protein in InterPro
IPR006716 ERG2_sigma1_rcpt-like
PANTHERiPTHR10868 PTHR10868, 1 hit
PfamiView protein in Pfam
PF04622 ERG2_Sigma1R, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiSGMR1_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q99720
Secondary accession number(s): D3DRM7
, O00673, O00725, Q0Z9W6, Q153Z1, Q2TSD1, Q53GN2, Q7Z653, Q8N7H3, Q9NYX0
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 12, 2006
Last sequence update: May 1, 1997
Last modified: October 16, 2019
This is version 159 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
  6. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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