Reviewed,
UniProtKB/Swiss-Prot Q99720 (OPRS1_HUMAN)
Last modified
January 19, 2010.
Version 74.
History...
Clusters with 100%,
90%,
50% identity |
Documents (5) |
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Names and origin
| Protein names | Recommended name: Sigma 1-type opioid receptor Short name=Sigma1-receptor Short name=Sigma1R Short name=SIG-1R Short name=hSigmaR1 Alternative name(s): SR31747-binding protein Short name=SR-BP Aging-associated gene 8 protein | ||||||
| Gene names |
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| Organism | Homo sapiens (Human) [Complete proteome] | ||||||
| Taxonomic identifier | 9606 [NCBI] | ||||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 223 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level. |
General annotation (Comments)
| Function | 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. Ref.2 Ref.16 |
| Subcellular location | Nucleus inner membrane. Nucleus outer membrane. Endoplasmic reticulum membrane. Lipid droplet. Cell junction. Cell membrane. Cell projection › growth cone. Note: Targeted to lipid droplets, cholesterol and galactosylceramide-enriched domains of the endoplasmic reticulum. Enriched at cell-cell communication regions, growth cone and postsynaptic structures. Localization is modulated by ligand-binding. Ref.2 Ref.12 |
| Tissue specificity | Widely expressed with higher expression in liver, colon, prostate, placenta, small intestine, heart and pancreas. Expressed in the retina by retinal pigment epithelial cells. Ref.2 Ref.1 Ref.15 |
| Miscellaneous | Depletion of OPRS1 by RNAi inhibits growth and survival signaling cascades and induces cell death. The OSPR1 antagonist rimcazole produces the same effect. |
| Sequence similarities | Belongs to the ERG2 family. |
Ontologies
Alternative products
| This entry describes 5 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q99720-1) This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. | ||||||
| Isoform 2 (identifier: Q99720-2) The sequence of this isoform differs from the canonical sequence as follows: 31-50: Missing. | ||||||
| Isoform 3 (identifier: Q99720-3) Also known as: Sigma-R1A; The sequence of this isoform differs from the canonical sequence as follows: 118-148: Missing. | ||||||
| Isoform 4 (identifier: Q99720-4) The sequence of this isoform differs from the canonical sequence as follows: 103-106: YVLL → ALLG 107-223: Missing. | ||||||
| Isoform 5 (identifier: Q99720-5) The sequence of this isoform differs from the canonical sequence as follows: 31-52: Missing. 63-76: Missing. | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 223 | 223 | Sigma 1-type opioid receptor | PRO_0000268652 | |||||
Regions | |||||||||
| Topological domain | 1 – 9 | 9 | Cytoplasmic Potential | ||||||
| Transmembrane | 10 – 30 | 21 | Potential | ||||||
| Topological domain | 31 – 80 | 50 | Extracellular Potential | ||||||
| Transmembrane | 81 – 101 | 21 | Potential | ||||||
| Topological domain | 102 – 223 | 122 | Cytoplasmic Potential | ||||||
| Region | 2 – 8 | 7 | Targeting to lipid droplets By similarity | ||||||
| Region | 118 – 148 | 31 | Mediates ligand-binding | ||||||
Natural variations | |||||||||
| Alternative sequence | 31 – 52 | 22 | Missing in isoform 5. | VSP_021981 | |||||
| Alternative sequence | 31 – 50 | 20 | Missing in isoform 2. | VSP_021982 | |||||
| Alternative sequence | 63 – 76 | 14 | Missing in isoform 5. | VSP_021983 | |||||
| Alternative sequence | 103 – 106 | 4 | YVLL → ALLG in isoform 4. | VSP_021984 | |||||
| Alternative sequence | 107 – 223 | 117 | Missing in isoform 4. | VSP_021985 | |||||
| Alternative sequence | 118 – 148 | 31 | Missing in isoform 3. | VSP_021986 | |||||
| Natural variant | 2 | 1 | Q → P: dbSNP rs1800866. Ref.17 | VAR_029750 | |||||
| Natural variant | 211 | 1 | R → Q | VAR_029751 | |||||
Experimental info | |||||||||
| Mutagenesis | 123 | 1 | E → G: No effect on ligand-binding. Ref.14 | ||||||
| Mutagenesis | 126 | 1 | D → G: Reduces ligand-binding. No effect on subcellular localization. Ref.14 | ||||||
| Mutagenesis | 138 | 1 | E → G: No effect on ligand-binding. Ref.14 | ||||||
| Mutagenesis | 144 | 1 | E → G: No effect on ligand-binding. Ref.14 | ||||||
| Mutagenesis | 150 | 1 | E → G: No effect on ligand-binding. Ref.14 | ||||||
| Mutagenesis | 158 | 1 | E → G: No effect on ligand-binding. Ref.14 | ||||||
| Mutagenesis | 163 | 1 | E → G: No effect on ligand-binding. Ref.14 | ||||||
| Mutagenesis | 172 | 1 | E → G: Reduces ligand-binding. No effect on subcellular localization. Ref.14 | ||||||
| Mutagenesis | 188 | 1 | D → G: No effect on ligand-binding. Ref.14 | ||||||
| Mutagenesis | 195 | 1 | D → G: No effect on ligand-binding. Ref.14 | ||||||
| Mutagenesis | 213 | 1 | E → G: No effect on ligand-binding. Ref.14 | ||||||
| Sequence conflict | 151 | 1 | T → A in AAF64280. Ref.4 | ||||||
| Sequence conflict | 168 | 1 | T → A in ABG29111. Ref.6 | ||||||
| Sequence conflict | 208 | 1 | R → W in AAV33304. Ref.5 | ||||||
| Sequence conflict | 218 | 1 | L → I in ABG29111. Ref.6 | ||||||
| Sequence conflict | 219 | 1 | F → S in BAD96619. Ref.9 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Cloning and functional expression of the human type 1 sigma receptor (hSigmaR1)." Kekuda R., Prasad P.D., Fei Y.-J., Leibach F.H., Ganapathy V. Biochem. Biophys. Res. Commun. 229:553-558(1996) [PubMed: 8954936] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY. Tissue: Choriocarcinoma. |
| [2] | "Purification and characterization of the human SR 31747A-binding protein. A nuclear membrane protein related to yeast sterol isomerase." Jbilo O., Vidal H., Paul R., De Nys N., Bensaid M., Silve S., Carayon P., Davi D., Galiegue S., Bourrie B., Guillemot J.-C., Ferrara P., Loison G., Maffrand J.-P., Le Fur G., Casellas P. J. Biol. Chem. 272:27107-27115(1997) [PubMed: 9341151] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), PROTEIN SEQUENCE OF 40-47; 48-60; 61-64; 120-133 AND 212-222, FUNCTION, TISSUE SPECIFICITY, SUBCELLULAR LOCATION. Tissue: Lymphoblast. |
| [3] | "Exon-intron structure, analysis of promoter region, and chromosomal localization of the human type 1 sigma receptor gene." Prasad P.D., Li H.W., Fei Y.-J., Ganapathy M.E., Fujita T., Plumley L.H., Yang-Feng T.L., Leibach F.H., Ganapathy V. J. Neurochem. 70:443-451(1998) [PubMed: 9453537] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]. |
| [4] | Wang L.-M., Shelness G.S., Childers S.R., Mach R.H., Wheeler K.T. Submitted (JAN-2000) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3). Tissue: Mammary gland. |
| [5] | "Identification of a human aging-associated gene." Kim J.W. Submitted (MAY-2004) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). |
| [6] | "A new splice variant of sigma-1 identified in human breast cancer biopsy sample." Zhang J., Aft R.L., Zhang F., Mach R.H. Submitted (MAY-2006) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 2; 3 AND 4). Tissue: Mammary cancer. |
| [7] | "Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. Sugano S.Nat. Genet. 36:40-45(2004) [PubMed: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 5). Tissue: Thyroid. |
| [8] | "Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)." Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B. Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). |
| [9] | Suzuki Y., Sugano S., Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S. Submitted (APR-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Kidney. |
| [10] | "DNA sequence and analysis of human chromosome 9." Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L. Dunham I.Nature 429:369-374(2004) [PubMed: 15164053] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [11] | "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 4). Tissue: Brain and Muscle. |
| [12] | "Colocalization of sterol isomerase and sigma(1) receptor at endoplasmic reticulum and nuclear envelope level." Dussossoy D., Carayon P., Belugou S., Feraut D., Bord A., Goubet C., Roque C., Vidal H., Combes T., Loison G., Casellas P. Eur. J. Biochem. 263:377-386(1999) [PubMed: 10406945] [Abstract] Cited for: SUBCELLULAR LOCATION. |
| [13] | "Molecular and ligand-binding characterization of the sigma-receptor in the Jurkat human T lymphocyte cell line." Ganapathy M.E., Prasad P.D., Huang W., Seth P., Leibach F.H., Ganapathy V. J. Pharmacol. Exp. Ther. 289:251-260(1999) [PubMed: 10087012] [Abstract] Cited for: CHARACTERIZATION (ISOFORM 3). |
| [14] | "Expression pattern of the type 1 sigma receptor in the brain and identity of critical anionic amino acid residues in the ligand-binding domain of the receptor." Seth P., Ganapathy M.E., Conway S.J., Bridges C.D., Smith S.B., Casellas P., Ganapathy V. Biochim. Biophys. Acta 1540:59-67(2001) [PubMed: 11476895] [Abstract] Cited for: MUTAGENESIS OF GLU-123; ASP-126; GLU-138; GLU-144; GLU-150; GLU-158; GLU-163; GLU-172; ASP-188; ASP-195 AND GLU-213. |
| [15] | "Expression pattern of sigma receptor 1 mRNA and protein in mammalian retina." Ola M.S., Moore P., El-Sherbeny A., Roon P., Agarwal N., Sarthy V.P., Casellas P., Ganapathy V., Smith S.B. Brain Res. Mol. Brain Res. 95:86-95(2001) [PubMed: 11687279] [Abstract] Cited for: TISSUE SPECIFICITY. |
| [16] | "Silencing of sigma-1 receptor induces cell death in human lens cells." Wang L., Duncan G. Exp. Cell Res. 312:1439-1446(2006) [PubMed: 16472803] [Abstract] Cited for: FUNCTION. |
| [17] | "Lack of association between sigma receptor gene variants and schizophrenia." Satoh F., Miyatake R., Furukawa A., Suwaki H. Psychiatry Clin. Neurosci. 58:359-363(2004) [PubMed: 15298647] [Abstract] Cited for: VARIANTS PRO-2 AND GLN-211. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | 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. Translation: CAI14185.1. BC004899 mRNA. Translation: AAH04899.1. BC007839 mRNA. Translation: AAH07839.1. |
| IPI | IPI00004267. IPI00167206. IPI00218268. IPI00376226. IPI00816436. |
| PIR | JC5266. |
| RefSeq | NP_005857.1. NP_671513.1. |
| UniGene | Hs.522087 |
3D structure databases | |
| ModBase | Search... |
Protein-protein interaction databases | |
| STRING | Q99720. |
Proteomic databases | |
| PRIDE | Q99720. |
Genome annotation databases | |
| Ensembl | ENST00000277010; ENSP00000277010; ENSG00000147955; Homo sapiens. [Genome view] |
| GeneID | 10280. |
| KEGG | hsa:10280. |
| UCSC | uc003zvb.1. human. uc003zvc.1. human. |
Organism-specific databases | |
| CTD | 10280. |
| GeneCards | GC09M034625. |
| HGNC | HGNC:8157. OPRS1. |
| HPA | CAB013470. HPA018002. HPA024071. |
| MIM | 601978. gene. |
| PharmGKB | PA31946. |
| GenAtlas | Search... |
Phylogenomic databases | |
| HOVERGEN | Q99720. |
| InParanoid | Q99720. |
| OMA | FYTLRAY. |
| PhylomeDB | Q99720. |
Gene expression databases | |
| ArrayExpress | Q99720. |
| Bgee | Q99720. |
| Genevestigator | Q99720. |
| GermOnline | ENSG00000147955. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR006716. ERG2_sigma1_rcpt-like. [Graphical view] |
| Pfam | PF04622. ERG2_Sigma1R. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other Resources | |
| DrugBank | DB00514. Dextromethorphan. |
| NextBio | 38946. |
| SOURCE | Search... |
Entry information
| Entry name | OPRS1_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q99720 Secondary accession number(s): O00673 Q9NYX0 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
| Disclaimer | Any 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. | ||||||||
Relevant documents
| Human chromosome 9 Human chromosome 9: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with


