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

Summary

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

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_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: 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?

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.
Neuropeptide S receptor 1 is a nonhormonal treatment target in endometriosis.
Title: Neuropeptide S receptor 1 is a nonhormonal treatment target in endometriosis.
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.
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.
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.
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.
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.
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.
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.
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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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	Compare labs

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

WI-21900 (e-PCR)
- UniSTS:11077

G16040 (e-PCR)
- UniSTS:40809

SHGC-83741 (e-PCR)
- UniSTS:104340

GPR154__7542 (e-PCR)
- UniSTS:471451

GDB:3755015 (e-PCR)
- UniSTS:59046

SHGC-56032 (e-PCR)
- UniSTS:19643

GDB:3755035 (e-PCR)
- UniSTS:8907

D7S3241 (e-PCR)
- UniSTS:254160

G16032 (e-PCR)
- UniSTS:16339

G42097 (e-PCR)
- UniSTS:93143

G42099 (e-PCR)
- UniSTS:93145

G42100 (e-PCR)
- UniSTS:93146

G42102 (e-PCR)
- UniSTS:93148

D7S497 (e-PCR), detects polymorphism
- UniSTS:51692

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

NG_012185.2 RefSeqGene

Range

4934..196694

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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)
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)
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)
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)
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