NPR1

natriuretic peptide receptor 1, the group of Transmembrane guanylate cyclases

Basic information

Region (hg38): 1:153678688-153693992

Previous symbols: [ "ANPRA", "NPRA" ]

Links

ENSG00000169418

∙ NCBI:4881 ∙ OMIM:108960 ∙ HGNC:7943 ∙ Uniprot:P16066 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the NPR1 gene.

not_specified (89 variants)
not_provided (10 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the NPR1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000000906.4. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous				5 clinvar	2 clinvar	7
missense			86 clinvar	2 clinvar	1 clinvar	89
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	86	7	3

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
NPR1	protein_coding	protein_coding	ENST00000368680	22	15356

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000293	1.00	125719	0	29	125748	0.000115

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.82	414	610	0.679	0.0000358	6776
Missense in Polyphen		143	274.68	0.5206		3109
Synonymous	1.29	231	257	0.898	0.0000146	2216
Loss of Function	4.49	16	50.3	0.318	0.00000249	555

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000207	0.000207
Ashkenazi Jewish	0.00	0.00
East Asian	0.000163	0.000163
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.000127	0.000123
Middle Eastern	0.000163	0.000163
South Asian	0.000163	0.000163
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Function: FUNCTION: Receptor for the atrial natriuretic peptide NPPA/ANP and the brain natriuretic peptide NPPB/BNP which are potent vasoactive hormones playing a key role in cardiovascular homeostasis. Has guanylate cyclase activity upon binding of the ligand. {ECO:0000269|PubMed:1672777}.;
Pathway: Aldosterone synthesis and secretion - Homo sapiens (human);Regulation of lipolysis in adipocytes - Homo sapiens (human);Oxytocin signaling pathway - Homo sapiens (human);Thermogenesis - Homo sapiens (human);cAMP signaling pathway - Homo sapiens (human);Vascular smooth muscle contraction - Homo sapiens (human);Renin secretion - Homo sapiens (human);Purine metabolism - Homo sapiens (human);cGMP-PKG signaling pathway - Homo sapiens (human);WNT-Ncore;Physiological factors;NO-cGMP-PKG mediated Neuroprotection;Purine metabolism;Cardiac conduction;Muscle contraction;Purine nucleotides nucleosides metabolism (Consensus)

Recessive Scores

pRec: 0.318

Intolerance Scores

loftool: 0.186
rvis_EVS: -0.24
rvis_percentile_EVS: 36.31

Haploinsufficiency Scores

pHI: 0.260
hipred: Y
hipred_score: 0.711
ghis: 0.568

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: E
gene_indispensability_score: 0.968

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

Gene name: Npr1
Phenotype: reproductive system phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); hematopoietic system phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); neoplasm; respiratory system phenotype; immune system phenotype; endocrine/exocrine gland phenotype; cellular phenotype; homeostasis/metabolism phenotype; muscle phenotype;

Gene ontology

Biological process: cGMP biosynthetic process;protein phosphorylation;signal transduction;cell surface receptor signaling pathway;receptor guanylyl cyclase signaling pathway;G protein-coupled receptor signaling pathway;body fluid secretion;regulation of blood pressure;positive regulation of cGMP-mediated signaling;negative regulation of angiogenesis;cGMP-mediated signaling;negative regulation of cell growth;positive regulation of urine volume;positive regulation of renal sodium excretion;dopamine metabolic process;regulation of vascular permeability;negative regulation of smooth muscle cell proliferation;regulation of blood vessel diameter;regulation of cardiac conduction
Cellular component: plasma membrane;integral component of membrane;receptor complex
Molecular function: peptide receptor activity;guanylate cyclase activity;protein kinase activity;ATP binding;GTP binding;G protein-coupled peptide receptor activity;natriuretic peptide receptor activity;peptide hormone binding;protein kinase binding;hormone binding