NPR1 natriuretic peptide receptor 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: NPR1provided by HGNC
Official Full Name: natriuretic peptide receptor 1provided by HGNC
Primary source: HGNC:HGNC:7943
See related: Ensembl:ENSG00000169418 MIM:108960; AllianceGenome:HGNC:7943
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ANPa; NPRA; ANPRA; GUC2A; GUCY2A
Summary: Guanylyl cyclases, catalyzing the production of cGMP from GTP, are classified as soluble and membrane forms (Garbers and Lowe, 1994 [PubMed 7982997]). The membrane guanylyl cyclases, often termed guanylyl cyclases A through F, form a family of cell-surface receptors with a similar topographic structure: an extracellular ligand-binding domain, a single membrane-spanning domain, and an intracellular region that contains a protein kinase-like domain and a cyclase catalytic domain. GC-A and GC-B function as receptors for natriuretic peptides; they are also referred to as atrial natriuretic peptide receptor A (NPR1) and type B (NPR2; MIM 108961). Also see NPR3 (MIM 108962), which encodes a protein with only the ligand-binding transmembrane and 37-amino acid cytoplasmic domains. NPR1 is a membrane-bound guanylate cyclase that serves as the receptor for both atrial and brain natriuretic peptides (ANP (MIM 108780) and BNP (MIM 600295), respectively).[supplied by OMIM, May 2009]
Expression: Biased expression in fat (RPKM 49.0), lung (RPKM 10.4) and 9 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1q21.3

Exon count:: 22

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (153678688..153693992)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (152815953..152831256)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (153651164..153666468)

Chromosome 1 - NC_000001.11 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?

Biallelic NPR1 loss of function variants are responsible for neonatal systemic hypertension.
Title: Biallelic NPR1 loss of function variants are responsible for neonatal systemic hypertension.
Dual deletion of guanylyl cyclase-A and p38 mitogen-activated protein kinase in podocytes with aldosterone administration causes glomerular intra-capillary thrombi.
Title: Dual deletion of guanylyl cyclase-A and p38 mitogen-activated protein kinase in podocytes with aldosterone administration causes glomerular intra-capillary thrombi.
Discovery of small molecule guanylyl cyclase A receptor positive allosteric modulators.
Title: Discovery of small molecule guanylyl cyclase A receptor positive allosteric modulators.
Natriuretic peptide receptor a promotes gastric malignancy through angiogenesis process.
Title: Natriuretic peptide receptor a promotes gastric malignancy through angiogenesis process.
ANP and BNP Exert Anti-Inflammatory Action via NPR-1/cGMP Axis by Interfering with Canonical, Non-Canonical, and Alternative Routes of Inflammasome Activation in Human THP1 Cells.
Title: ANP and BNP Exert Anti-Inflammatory Action via NPR-1/cGMP Axis by Interfering with Canonical, Non-Canonical, and Alternative Routes of Inflammasome Activation in Human THP1 Cells.
The minor alleles of rs35479618 (p.E967K, gnomAD non-Finnish European allele frequency 0.017) and rs116245325 (p.L1034F, allele frequency 0.0007) of NRP1 were associated with higher blood pressure. [Meta analysis]
Title: Blood Pressure-Associated Genetic Variants in the Natriuretic Peptide Receptor 1 Gene Modulate Guanylate Cyclase Activity.
Data show that all the residues of the ATP-binding site of the are conserved in the phosphorylated pseudokinase domain (PKD) of atrial natriuretic peptide receptor type A (GC-A) and atrial natriuretic factor receptor B (GC-B).
Title: The pseudokinase domains of guanylyl cyclase-A and -B allosterically increase the affinity of their catalytic domains for substrate.
The role of NPR1 signaling in the diabetic complications.[review]
Title: Molecular and genetic aspects of guanylyl cyclase natriuretic peptide receptor-A in regulation of blood pressure and renal function.
It was the aim to investigate the expression of natriuretic peptide receptors NPR-A, NPR-B and NPR-C during adipocyte differentiation (AD), upon stimulation with fatty acids (FA), and in murine and human adipose tissue depots.
Title: Regulation of natriuretic peptides postprandially in vivo and of their receptors in adipocytes by fatty acids in vitro.
These results of the distinct presence of NPRA and NPRBpositive cells in unstable plaques underlying acute myocardial infarction suggested that natriuretic peptides serve a role in regulating plaque instability in humans.
Title: Enhanced expression of natriuretic peptide receptor A and B in neutrophils of culprit lesions in patients with acute myocardial infarction.

Submit: New GeneRIF Correction See all GeneRIFs (60)

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

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

G15870 (e-PCR)
- UniSTS:36883

RH99065 (e-PCR)
- UniSTS:89147

RH68403 (e-PCR)
- UniSTS:48724

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables G protein-coupled peptide receptor activity	NAS Non-traceable Author Statement more info	PubMed
enables GTP binding	IEA Inferred from Electronic Annotation more info
enables guanylate cyclase activity	IBA Inferred from Biological aspect of Ancestor more info
enables guanylate cyclase activity	IDA Inferred from Direct Assay more info	PubMed
enables hormone binding	IPI Inferred from Physical Interaction more info	PubMed
enables natriuretic peptide receptor activity	IDA Inferred from Direct Assay more info	PubMed
enables peptide hormone binding	IPI Inferred from Physical Interaction more info	PubMed
enables peptide receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein kinase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in G protein-coupled receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in blood vessel diameter maintenance	NAS Non-traceable Author Statement more info	PubMed
involved_in body fluid secretion	TAS Traceable Author Statement more info	PubMed
involved_in cGMP biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in cGMP biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in cGMP-mediated signaling	IEA Inferred from Electronic Annotation more info
involved_in cell surface receptor signaling pathway	NAS Non-traceable Author Statement more info	PubMed
involved_in dopamine metabolic process	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of angiogenesis	TAS Traceable Author Statement more info	PubMed
involved_in negative regulation of cell growth	NAS Non-traceable Author Statement more info	PubMed
involved_in negative regulation of smooth muscle cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of cGMP-mediated signaling	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of renal sodium excretion	TAS Traceable Author Statement more info	PubMed
involved_in positive regulation of urine volume	TAS Traceable Author Statement more info	PubMed
involved_in receptor guanylyl cyclase signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in receptor guanylyl cyclase signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in receptor guanylyl cyclase signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of blood pressure	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of blood pressure	NAS Non-traceable Author Statement more info	PubMed
involved_in regulation of vascular permeability	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
part_of ANPR-A receptor complex	ISS Inferred from Sequence or Structural Similarity more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	TAS Traceable Author Statement more info
part_of receptor complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: atrial natriuretic peptide receptor 1

Names: ANP-A; ANPR-A; GC-A; NPR-A; atrial natriuretic peptide receptor type A; atrionatriuretic peptide receptor A; guanylate cyclase A; natriuretic peptide A type receptor; natriuretic peptide receptor A; natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A); testicular tissue protein Li 20

NP_000897.3

EC 4.6.1.2

XP_005245275.1

EC 4.6.1.2

XP_016856863.1

EC 4.6.1.2

XP_054192771.1

EC 4.6.1.2

XP_054192772.1

EC 4.6.1.2

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.

mRNA and Protein(s)

NM_000906.4 → NP_000897.3 atrial natriuretic peptide receptor 1 precursor

See identical proteins and their annotated locations for NP_000897.3

Status: VALIDATED

Source sequence(s)

AK025024

Consensus CDS

CCDS1051.1

UniProtKB/Swiss-Prot

B0ZBF0, P16066, Q5SR08, Q6P4Q3

UniProtKB/TrEMBL

A0A140VJE6

Related

ENSP00000357669.3, ENST00000368680.4

Conserved Domains (7) summary

cd06385
Location:36 → 443

PBP1_NPR_A; Ligand-binding domain of type A natriuretic peptide receptor

smart00219
Location:547 → 801

TyrKc; Tyrosine kinase, catalytic domain

smart00044
Location:840 → 1032

CYCc; Adenylyl- / guanylyl cyclase, catalytic domain

cd14042
Location:534 → 807

PK_GC-A_B; Pseudokinase domain of the membrane Guanylate Cyclase receptors, GC-A and GC-B

pfam00211
Location:867 → 1053

Guanylate_cyc; Adenylate and Guanylate cyclase catalytic domain

pfam01094
Location:54 → 414

ANF_receptor; Receptor family ligand binding region

pfam07701
Location:816 → 861

HNOBA; Heme NO binding associated

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

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

153678688..153693992

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005245218.3 → XP_005245275.1 atrial natriuretic peptide receptor 1 isoform X1

Conserved Domains (6) summary

cd06385
Location:36 → 443

PBP1_NPR_A; Ligand-binding domain of type A natriuretic peptide receptor

smart00044
Location:814 → 1006

CYCc; Adenylyl- / guanylyl cyclase, catalytic domain

cd14042
Location:534 → 781

PK_GC-A_B; Pseudokinase domain of the membrane Guanylate Cyclase receptors, GC-A and GC-B

pfam00211
Location:841 → 1027

Guanylate_cyc; Adenylate and Guanylate cyclase catalytic domain

pfam01094
Location:54 → 414

ANF_receptor; Receptor family ligand binding region

pfam07701
Location:790 → 835

HNOBA; Heme NO binding associated
XM_017001374.3 → XP_016856863.1 atrial natriuretic peptide receptor 1 isoform X2

Alternate T2T-CHM13v2.0

Genomic

NC_060925.1 Alternate T2T-CHM13v2.0

Range

152815953..152831256

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054336796.1 → XP_054192771.1 atrial natriuretic peptide receptor 1 isoform X1
XM_054336797.1 → XP_054192772.1 atrial natriuretic peptide receptor 1 isoform X2