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NPSR1 neuropeptide S receptor 1 [ Homo sapiens (human) ]

Gene ID: 387129, updated on 14-Nov-2024

Summary

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Official Symbol
NPSR1provided by HGNC
Official Full Name
neuropeptide S receptor 1provided by HGNC
Primary source
HGNC:HGNC:23631
See related
Ensembl:ENSG00000187258 MIM:608595; AllianceGenome:HGNC:23631
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
GPRA; NPSR; VRR1; ASRT2; PGR14; GPR154
Summary
This gene encodes a member of the vasopressin/oxytocin subfamily of G protein-coupled receptors. The encoded membrane protein acts as a receptor for neuropeptide S and affects a variety of cellular processes through its signaling. Increased expression of this gene in ciliated cells of the respiratory epithelium and in bronchial smooth muscle cells is associated with asthma. Polymorphisms in this gene have also been associated with asthma susceptibility, panic disorders, inflammatory bowel disease, and rheumatoid arthritis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
Expression
Low expression observed in reference dataset See more
Orthologs
mouse all
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Genomic context

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See NPSR1 in Genome Data Viewer
Location:
7p14.3
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (34658218..34878332)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (34798021..35019005)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (34697830..34917944)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene ReSE screen-validated silencer GRCh37_chr7:33972520-33972786 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:34033417-34034047 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:34034048-34034677 Neighboring gene BMP binding endothelial regulator Neighboring gene MED14-independent group 3 enhancer GRCh37_chr7:34074011-34075210 Neighboring gene VISTA enhancer hs1336 Neighboring gene NANOG hESC enhancer GRCh37_chr7:34115590-34116091 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:34214913-34215520 Neighboring gene NANOG hESC enhancer GRCh37_chr7:34251459-34251988 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:34258701-34259255 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:34264670-34265500 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25837 Neighboring gene RNA, U6 small nuclear 438, pseudogene Neighboring gene NPSR1 antisense RNA 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:34476732-34476921 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:34553347-34553924 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:34592037-34592538 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr7:34691494-34692079 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:34694009-34695208 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:34699869-34700706 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:34701543-34702378 Neighboring gene ribosomal protein L7 pseudogene 31 Neighboring gene RNA, 7SL, cytoplasmic 132, pseudogene Neighboring gene non-SMC condensin I complex subunit D2 pseudogene 1 Neighboring gene uncharacterized LOC102724723 Neighboring gene dpy-19 like C-mannosyltransferase 1 Neighboring gene microRNA 548n

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. NPSR1 promotes chronic colitis through regulating CD4[+] T cell effector function in inflammatory bowel disease.
    Title: NPSR1 promotes chronic colitis through regulating CD4(+) T cell effector function in inflammatory bowel disease.
  2. Neuropeptide S receptor 1 is a nonhormonal treatment target in endometriosis.
    Title: Neuropeptide S receptor 1 is a nonhormonal treatment target in endometriosis.
  3. Human-Specific Neuropeptide S Receptor Variants Regulate Fear Extinction in the Basal Amygdala of Male and Female Mice Depending on Threat Salience.
    Title: Human-Specific Neuropeptide S Receptor Variants Regulate Fear Extinction in the Basal Amygdala of Male and Female Mice Depending on Threat Salience.
  4. The promoting effects of hsa_circ_0050102 in pancreatic cancer and the molecular mechanism by targeting miR-1182/NPSR1.
    Title: The promoting effects of hsa_circ_0050102 in pancreatic cancer and the molecular mechanism by targeting miR-1182/NPSR1.
  5. Neuropeptide S receptor gene Asn107 polymorphism in obese male individuals in Pakistan.
    Title: Neuropeptide S receptor gene Asn107 polymorphism in obese male individuals in Pakistan.
  6. Association of NPSR1 gene variation and neural activity in patients with panic disorder and agoraphobia and healthy controls.
    Title: Association of NPSR1 gene variation and neural activity in patients with panic disorder and agoraphobia and healthy controls.
  7. Gene polymorphisms (rs324957, rs324981) in NPSR1 are associated with increased risk of primary insomnia: A cross-sectional study.
    Title: Gene polymorphisms (rs324957, rs324981) in NPSR1 are associated with increased risk of primary insomnia: A cross-sectional study.
  8. results support the genetic role of NPSR1 in the pathogenesis of anxiety and suggest that carriers of NPSR1 Ile-allele are at increased risk of anxiety in Hemodialysis patients. Neither BDNF Val66Met nor IL-6 G174C were linked to psychological symptoms.
    Title: Investigating the Contribution of NPSR1, IL-6 and BDNF Polymorphisms to Depressive and Anxiety Symptoms in Hemodialysis Patients.
  9. RORA* NPSR1 interactions appear to be involved in mechanisms specific for nocturnal asthma
    Title: Nocturnal asthma is affected by genetic interactions between RORA and NPSR1.
  10. findings of this study provide some evidence that the NPSR1 and GAD1 polymorphisms might play a role in the development of war-related PTSD and its related psychological expressions; further research is needed to elucidate the interactions of specific gene variants and environmental factors in the development of PTSD
    Title: Association of Neuropeptide S Receptor 1 and Glutamate Decarboxylase 1 Gene Polymorphisms with Posttraumatic Stress Disorder.
Submit: New GeneRIF Correction See all GeneRIFs (84)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Asthma-related traits, susceptibility to, 2
MedGen: C1837811 OMIM: 608584 GeneReviews: Not available
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EBI GWAS Catalog

Description
Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables neuropeptide receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables neuropeptide receptor activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables vasopressin receptor activity IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in eating behavior IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of defecation IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of eating behavior IEA
Inferred from Electronic Annotation
more info
  
involved_in neuropeptide signaling pathway IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in neuropeptide signaling pathway IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of ERK1 and ERK2 cascade IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of release of sequestered calcium ion into cytosol IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in positive regulation of release of sequestered calcium ion into cytosol IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in righting reflex IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
  
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
neuropeptide S receptor
Names
G-protein coupled receptor 154
G-protein coupled receptor PGR14
G-protein coupled receptor for asthma susceptibility
vasopressin receptor-related receptor 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_012185.2 RefSeqGene

    Range
    4934..196694
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001300933.2 → NP_001287862.1  neuropeptide S receptor isoform B short

    See identical proteins and their annotated locations for NP_001287862.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate in-frame splice site in the central coding region, and uses an alternate 3-terminal exon, compared to variant 1. The encoded isoform (B short, 15947423) is shorter and has a distinct C-terminus, compared to isoform A.
    Source sequence(s)
    AC005493, AK172847, AY310328
    Consensus CDS
    CCDS75580.1
    UniProtKB/TrEMBL
    A0A090N8G9
    Related
    ENSP00000433258.1, ENST00000531252.5
    Conserved Domains (1) summary
    pfam00001
    Location:66 → 319
    7tm_1; 7 transmembrane receptor (rhodopsin family)

  2. NM_001300934.2 → NP_001287863.1  neuropeptide S receptor isoform F

    See identical proteins and their annotated locations for NP_001287863.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks two consecutive in-frame exons in the central coding region, compared to variant 1. The encoded isoform (F, PMID: 15947423) is shorter, compared to isoform A.
    Source sequence(s)
    AC005493, AK172847, AY310332
    Consensus CDS
    CCDS75581.1
    UniProtKB/TrEMBL
    B7ZMA2
    Related
    ENSP00000370953.1, ENST00000381542.5
    Conserved Domains (1) summary
    pfam00001
    Location:95 → 264
    7tm_1; 7 transmembrane receptor (rhodopsin family)

  3. NM_001300935.2 → NP_001287864.1  neuropeptide S receptor isoform G

    See identical proteins and their annotated locations for NP_001287864.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) includes an alternate exon in the 3' coding region, which results in a frameshift, compared to variant 1. The encoded isoform (G) has a longer and distinct C-terminus, compared to isoform A.
    Source sequence(s)
    AC005493, AK172847, AY310326, AY956448
    Consensus CDS
    CCDS75579.1
    UniProtKB/TrEMBL
    A0A090N8G9
    Related
    ENSP00000370950.3, ENST00000381539.3
    Conserved Domains (1) summary
    pfam00001
    Location:66 → 330
    7tm_1; 7 transmembrane receptor (rhodopsin family)

  4. NM_207172.2 → NP_997055.1  neuropeptide S receptor isoform A

    See identical proteins and their annotated locations for NP_997055.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes isoform A (PMID: 15947423).
    Source sequence(s)
    AC005493, AY310326
    Consensus CDS
    CCDS5444.1
    UniProtKB/Swiss-Prot
    A2RTZ4, Q2XP58, Q56H76, Q56H77, Q56H78, Q6JSL4, Q6JSL5, Q6JSL6, Q6JSL7, Q6JSL8, Q6W5P3, Q6W5P4, Q6ZMB8
    UniProtKB/TrEMBL
    A0A090N8G9, A0A090N8Z1
    Related
    ENSP00000353788.1, ENST00000360581.6
    Conserved Domains (1) summary
    pfam00001
    Location:66 → 330
    7tm_1; 7 transmembrane receptor (rhodopsin family)

  5. NM_207173.2 → NP_997056.1  neuropeptide S receptor isoform B

    See identical proteins and their annotated locations for NP_997056.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate 3' terminal exon, compared to variant 1. The encoded isoform (B, PMID: 15947423) has a longer and distinct C-terminus, compared to isoform A.
    Source sequence(s)
    AC005493, AY310327
    Consensus CDS
    CCDS5443.1
    UniProtKB/TrEMBL
    A0A090N8G9
    Related
    ENSP00000352839.1, ENST00000359791.5
    Conserved Domains (1) summary
    cd15197
    Location:50 → 341
    7tmA_NPSR; neuropeptide S receptor, member of the class A family of seven-transmembrane G protein-coupled receptors

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    34658218..34878332
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    34798021..35019005
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6W5P4.1 GenPept UniProtKB/Swiss-Prot:Q6W5P4

Gene LinkOut

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