Q6W5P4 (NPSR1_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
December 14, 2011.
Version 72.
History...
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Neuropeptide S receptor Alternative name(s): G-protein coupled receptor 154 G-protein coupled receptor PGR14 G-protein coupled receptor for asthma susceptibility | ||||
| Gene names |
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| Organism | Homo sapiens (Human) | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 371 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at transcript level |
General annotation (Comments)
| Function | May be active in signaling pathway in an autocrine or paracrine fashion in several tissues. Receptor for neuropeptide S, it may mediate its action, such as inhibitory effects, on cell growth. Involved in pathogenesis of asthma and other IgE-mediated diseases. Ref.2 Ref.8 |
| Subcellular location | Isoform 1: Cell membrane; Multi-pass membrane protein Ref.2. Isoform 3: Cell membrane; Multi-pass membrane protein Ref.2. Isoform 4: Cell membrane; Multi-pass membrane protein Ref.2. |
| Tissue specificity | Ubiquitous. Isoform 1 is predominantly expressed in smooth muscle. Isoform 4 is predominantly expressed in epithelial cells. In bronchial biopsies, it is expressed in smooth muscle cells of asthma patients, but not in control patients; whereas in epithelial cells, its expression is consistently stronger in asthma patients. Ref.1 Ref.2 |
| Involvement in disease | Defects in NPSR1 are a cause of asthma-related traits type 2 (ASRT2) [MIM:608584]. Asthma-related traits include clinical symptoms of asthma, such as coughing, wheezing, dyspnea, bronchial hyperresponsiveness as assessed by methacholine challenge test, serum IgE levels, atopy and atopic dermatitis. Ref.1 Ref.9 Ref.10 |
| Miscellaneous | Only isoforms with 7 transmembrane topology (isoform 1, isoform 3 and isoform 4) are transported into the plasma membrane in transfected cells, while the truncated ones retain intracellular compartments. |
| Sequence similarities | Belongs to the G-protein coupled receptor 1 family. Vasopressin/oxytocin receptor subfamily. |
Ontologies
| Keywords | |
|---|---|
| Cellular component | Cell membrane Cytoplasm Membrane |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Disease | Asthma |
| Domain | Transmembrane Transmembrane helix |
| Molecular function | G-protein coupled receptor Receptor Transducer |
| PTM | Disulfide bond Glycoprotein |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Cellular component | cytoplasm Inferred from direct assay. Source: HPA integral to membraneInferred from electronic annotation. Source: UniProtKB-KW plasma membraneInferred from direct assay. Source: HPA |
| Molecular function | vasopressin receptor activity Inferred from electronic annotation. Source: InterPro |
| Complete GO annotation... | |
Alternative products
| This entry describes 9 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q6W5P4-1) Also known as: Isoform A; 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: Q6W5P4-2) Also known as: Isoform F; The sequence of this isoform differs from the canonical sequence as follows: 94-159: Missing. | ||||||
| Isoform 3 (identifier: Q6W5P4-3) Also known as: Isoform G; The sequence of this isoform differs from the canonical sequence as follows: 343-371: EQRSQDSRMTFRERTERHEMQILSKPEFI → ANSSVYLLAC...GFQNDVPGEN | ||||||
| Isoform 4 (identifier: Q6W5P4-4) Also known as: Isoform B long form; The sequence of this isoform differs from the canonical sequence as follows: 343-371: EQRSQDSRMTFRERTERHEMQILSKPEFI → VIRLRQLQEAALMLCPQRENWKGTWPGVPSWALPR | ||||||
| Isoform 5 (identifier: Q6W5P4-5) Also known as: Isoform B short form; The sequence of this isoform differs from the canonical sequence as follows: 93-103: Missing. 343-371: EQRSQDSRMTFRERTERHEMQILSKPEFI → VIRLRQLQEAALMLCPQRENWKGTWPGVPSWALPR | ||||||
| Isoform 6 (identifier: Q6W5P4-6) Also known as: Isoform D; The sequence of this isoform differs from the canonical sequence as follows: 94-158: DSFTGLVNIL...AIVYPMKFLQ → GCAALRLYLR...HIWEEDTVQR 159-371: Missing. | ||||||
| Isoform 7 (identifier: Q6W5P4-7) Also known as: Isoform E; The sequence of this isoform differs from the canonical sequence as follows: 129-136: VVLLYAST → KSKPGSSL 137-371: Missing. | ||||||
| Isoform 8 (identifier: Q6W5P4-8) The sequence of this isoform differs from the canonical sequence as follows: 130-143: VLLYASTYVLVSLS → MVMKLFHIQKMNME 144-371: Missing. | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 9 (identifier: Q6W5P4-9) Also known as: Isoform C; The sequence of this isoform differs from the canonical sequence as follows: 94-94: D → V 95-371: Missing. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||||
Molecule processing | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 371 | 371 | Neuropeptide S receptor | PRO_0000069639 | |||||||
Regions | |||||||||||
| Topological domain | 1 – 52 | 52 | Extracellular Potential | ||||||||
| Transmembrane | 53 – 73 | 21 | Helical; Name=1; Potential | ||||||||
| Topological domain | 74 – 82 | 9 | Cytoplasmic Potential | ||||||||
| Transmembrane | 83 – 103 | 21 | Helical; Name=2; Potential | ||||||||
| Topological domain | 104 – 123 | 20 | Extracellular Potential | ||||||||
| Transmembrane | 124 – 144 | 21 | Helical; Name=3; Potential | ||||||||
| Topological domain | 145 – 164 | 20 | Cytoplasmic Potential | ||||||||
| Transmembrane | 165 – 185 | 21 | Helical; Name=4; Potential | ||||||||
| Topological domain | 186 – 212 | 27 | Extracellular Potential | ||||||||
| Transmembrane | 213 – 233 | 21 | Helical; Name=5; Potential | ||||||||
| Topological domain | 234 – 275 | 42 | Cytoplasmic Potential | ||||||||
| Transmembrane | 276 – 296 | 21 | Helical; Name=6; Potential | ||||||||
| Topological domain | 297 – 312 | 16 | Extracellular Potential | ||||||||
| Transmembrane | 313 – 333 | 21 | Helical; Name=7; Potential | ||||||||
| Topological domain | 334 – 371 | 38 | Cytoplasmic Potential | ||||||||
Amino acid modifications | |||||||||||
| Glycosylation | 4 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Disulfide bond | 121 ↔ 197 | By similarity | |||||||||
Natural variations | |||||||||||
| Alternative sequence | 93 – 103 | 11 | Missing in isoform 5. | VSP_016078 | |||||||
| Alternative sequence | 94 – 159 | 66 | Missing in isoform 2. | VSP_016079 | |||||||
| Alternative sequence | 94 – 158 | 65 | DSFTG…MKFLQ → GCAALRLYLRPGVPQHRQIP CHRLPHEVPSRRKASQGPHC DRLEPVFSVLHSHPDHIWEE DTVQR in isoform 6. | VSP_016080 | |||||||
| Alternative sequence | 94 | 1 | D → V in isoform 9. | VSP_016081 | |||||||
| Alternative sequence | 95 – 371 | 277 | Missing in isoform 9. | VSP_016082 | |||||||
| Alternative sequence | 129 – 136 | 8 | VVLLYAST → KSKPGSSL in isoform 7. | VSP_016083 | |||||||
| Alternative sequence | 130 – 143 | 14 | VLLYA…LVSLS → MVMKLFHIQKMNME in isoform 8. | VSP_016084 | |||||||
| Alternative sequence | 137 – 371 | 235 | Missing in isoform 7. | VSP_016085 | |||||||
| Alternative sequence | 144 – 371 | 228 | Missing in isoform 8. | VSP_016086 | |||||||
| Alternative sequence | 159 – 371 | 213 | Missing in isoform 6. | VSP_016087 | |||||||
| Alternative sequence | 343 – 371 | 29 | EQRSQ…KPEFI → ANSSVYLLACDVSVLWALVL TSEKESCESWRRKGAKITGF QNDVPGEN in isoform 3. | VSP_016088 | |||||||
| Alternative sequence | 343 – 371 | 29 | EQRSQ…KPEFI → VIRLRQLQEAALMLCPQREN WKGTWPGVPSWALPR in isoform 4 and isoform 5. | VSP_016089 | |||||||
| Natural variant | 107 | 1 | N → I. Ref.1 Ref.3 Ref.4 Ref.5 Corresponds to variant rs324981 [ dbSNP | Ensembl ]. | VAR_023757 | |||||||
| Natural variant | 122 | 1 | R → Q. Ref.5 Corresponds to variant rs35436513 [ dbSNP | Ensembl ]. | VAR_025103 | |||||||
| Natural variant | 143 | 1 | S → G. Ref.5 Corresponds to variant rs325465 [ dbSNP | Ensembl ]. | VAR_025104 | |||||||
| Natural variant | 197 | 1 | C → F. Ref.5 Corresponds to variant rs34705969 [ dbSNP | Ensembl ]. | VAR_025105 | |||||||
| Natural variant | 212 | 1 | T → I. Ref.5 Corresponds to variant rs35537374 [ dbSNP | Ensembl ]. | VAR_025106 | |||||||
| Natural variant | 241 | 1 | S → R. Ref.5 Corresponds to variant rs727162 [ dbSNP | Ensembl ]. | VAR_023758 | |||||||
| Natural variant | 315 | 1 | I → T. Ref.5 Corresponds to variant rs10270766 [ dbSNP | Ensembl ]. | VAR_025107 | |||||||
| Natural variant | 344 | 1 | Q → R. Ref.5 Corresponds to variant rs6972158 [ dbSNP | Ensembl ]. | VAR_023759 | |||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Characterization of a common susceptibility locus for asthma-related traits." Laitinen T., Polvi A., Rydman P., Vendelin J., Pulkkinen V., Salmikangas P., Maekelae S., Rehn M., Pirskanen A., Rautanen A., Zucchelli M., Gullsten H., Leino M., Alenius H., Petaeys T., Haahtela T., Laitinen A., Laprise C. Kere J.Science 304:300-304(2004) [PubMed: 15073379] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 4), VARIANT ILE-107, INVOLVEMENT IN ASRT2, TISSUE SPECIFICITY. |
| [2] | "Characterization of GPRA, a novel G protein-coupled receptor related to asthma." Vendelin J., Pulkkinen V., Rehn M., Pirskanen A., Raisanen-Sokolowski A., Laitinen A., Laitinen L.A., Kere J., Laitinen T. Am. J. Respir. Cell Mol. Biol. 33:262-270(2005) [PubMed: 15947423] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 2; 5; 6; 7 AND 9), FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY. |
| [3] | "Human neuropeptide S receptor isoforms A and G: nucleotide and deduced amino acid sequence." Uebele V.N. Submitted (MAR-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 3), VARIANT ILE-107. |
| [4] | "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 8), VARIANT ILE-107. |
| [5] | SeattleSNPs variation discovery resource Submitted (OCT-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS ILE-107; GLN-122; GLY-143; PHE-197; ILE-212; ARG-241; THR-315 AND ARG-344. |
| [6] | Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. Venter J.C.Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [7] | "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] (ISOFORM 4). Tissue: Brain. |
| [8] | "Neuropeptide S: a neuropeptide promoting arousal and anxiolytic-like effects." Xu Y.-L., Reinscheid R.K., Huitron-Resendiz S., Clark S.D., Wang Z., Lin S.H., Brucher F.A., Zeng J., Ly N.K., Henriksen S.J., de Lecea L., Civelli O. Neuron 43:487-497(2004) [PubMed: 15312648] [Abstract] Cited for: FUNCTION. |
| [9] | "Haplotypes of G protein-coupled receptor 154 are associated with childhood allergy and asthma." Melen E., Bruce S., Doekes G., Kabesch M., Laitinen T., Lauener R., Lindgren C.M., Riedler J., Scheynius A., van Hage-Hamsten M., Kere J., Pershagen G., Wickman M., Nyberg F. Am. J. Respir. Crit. Care Med. 171:1089-1095(2005) [PubMed: 15710598] [Abstract] Cited for: INVOLVEMENT IN ASRT2. |
| [10] | "G-protein-coupled receptor polymorphisms are associated with asthma in a large German population." Kormann M.S., Carr D., Klopp N., Illig T., Leupold W., Fritzsch C., Weiland S.K., von Mutius E., Kabesch M. Am. J. Respir. Crit. Care Med. 171:1358-1362(2005) [PubMed: 15764725] [Abstract] Cited for: INVOLVEMENT IN ASRT2. |
| + | Additional computationally mapped references. |
Web resources
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AY310326 mRNA. Translation: AAQ76966.1. AY310327 mRNA. Translation: AAQ76967.1. AY310328 mRNA. Translation: AAQ76968.1. AY310329 mRNA. Translation: AAQ76969.1. AY310330 mRNA. Translation: AAQ76970.1. AY310331 mRNA. Translation: AAQ76971.1. AY310332 mRNA. Translation: AAQ76972.1. AY956446 mRNA. Translation: AAX63744.1. AY956447 mRNA. Translation: AAX63745.1. AY956448 mRNA. Translation: AAX63746.1. AK172847 mRNA. Translation: BAD18811.1. DQ272236 Genomic DNA. Translation: ABB72550.1. CH471073 Genomic DNA. Translation: EAW94036.1. BC132693 mRNA. Translation: AAI32694.1. BC132695 mRNA. Translation: AAI32696.1. |
| IPI | IPI00410389. IPI00418373. IPI00428568. IPI00428571. IPI00441882. IPI00556142. IPI00654752. IPI00654855. IPI00654899. |
| RefSeq | NP_997055.1. NM_207172.1. NP_997056.1. NM_207173.1. |
| UniGene | Hs.652373. |
3D structure databases | |
| ProteinModelPortal | Q6W5P4. |
| SMR | Q6W5P4. Positions 47-348. |
| ModBase | Search... |
Protein-protein interaction databases | |
| STRING | Q6W5P4. |
Protein family/group databases | |
| GPCRDB | Search... |
PTM databases | |
| PhosphoSite | Q6W5P4. |
Polymorphism databases | |
| DMDM | 74758626. |
Proteomic databases | |
| PRIDE | Q6W5P4. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000360581; ENSP00000353788; ENSG00000187258. |
| GeneID | 387129. |
| KEGG | hsa:387129. |
| UCSC | uc003teg.1. human. uc003teh.1. human. uc003tei.1. human. uc010kwv.1. human. uc010kww.1. human. |
Organism-specific databases | |
| CTD | 387129. |
| GeneCards | GC07P034664. |
| HGNC | HGNC:23631. NPSR1. |
| HPA | HPA007489. |
| MIM | 608584. phenotype. 608595. gene. |
| neXtProt | NX_Q6W5P4. |
| PharmGKB | PA134951416. |
| GenAtlas | Search... |
Phylogenomic databases | |
| GeneTree | ENSGT00550000074198. |
| HOVERGEN | HBG106615. |
| OMA | GEKQARV. |
Enzyme and pathway databases | |
| Reactome | REACT_111102. Signal Transduction. |
Gene expression databases | |
| Bgee | Q6W5P4. |
| Genevestigator | Q6W5P4. |
Family and domain databases | |
| InterPro | IPR000276. 7TM_GPCR_Rhodpsn. IPR017452. GPCR_Rhodpsn_supfam. IPR001817. Vasoprsn_rcpt. [Graphical view] |
| KO | K08376. |
| Pfam | PF00001. 7tm_1. 1 hit. [Graphical view] |
| PRINTS | PR00237. GPCRRHODOPSN. PR00896. VASOPRESSINR. |
| PROSITE | PS00237. G_PROTEIN_RECEP_F1_1. 1 hit. PS50262. G_PROTEIN_RECEP_F1_2. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| DrugBank | DB01159. Halothane. |
| NextBio | 101236. |
| SOURCE | Search... |
Entry information
| Entry name | NPSR1_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q6W5P4 Secondary accession number(s): A2RTZ4 Q6ZMB8 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
| 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
| 7-transmembrane G-linked receptors List of 7-transmembrane G-linked receptor entries |
| Human chromosome 7 Human chromosome 7: 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