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NPR3 natriuretic peptide receptor 3 [ Homo sapiens (human) ]

Gene ID: 4883, updated on 22-Sep-2022

Summary

Official Symbol
NPR3provided by HGNC
Official Full Name
natriuretic peptide receptor 3provided by HGNC
Primary source
HGNC:HGNC:7945
See related
Ensembl:ENSG00000113389 MIM:108962; AllianceGenome:HGNC:7945
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
NPRC; ANP-C; ANPRC; BOMOS; NPR-C; ANPR-C; GUCY2B; C5orf23
Summary
This gene encodes one of three natriuretic peptide receptors. Natriutetic peptides are small peptides which regulate blood volume and pressure, pulmonary hypertension, and cardiac function as well as some metabolic and growth processes. The product of this gene encodes a natriuretic peptide receptor responsible for clearing circulating and extracellular natriuretic peptides through endocytosis of the receptor. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Feb 2011]
Expression
Biased expression in kidney (RPKM 35.4), fat (RPKM 14.2) and 8 other tissues See more
Orthologs
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Genomic context

See NPR3 in Genome Data Viewer
Location:
5p13.3
Exon count:
10
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (32690872..32791720)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (32804528..32905709)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (32690978..32791826)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene SUB1 regulator of transcription Neighboring gene long intergenic non-protein coding RNA 2061 Neighboring gene Sharpr-MPRA regulatory region 158 Neighboring gene NPR3 intron CAGE-defined low expression enhancer Neighboring gene uncharacterized LOC124900956 Neighboring gene uncharacterized LOC124900955 Neighboring gene long intergenic non-protein coding RNA 2120

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Boudin-Mortier syndrome
MedGen: C5561992 OMIM: 619543 GeneReviews: Not available
Compare labs

EBI GWAS Catalog

Description
A genome-wide association study of northwestern Europeans involves the C-type natriuretic peptide signaling pathway in the etiology of human height variation.
EBI GWAS Catalog
Gene-age interactions in blood pressure regulation: a large-scale investigation with the CHARGE, Global BPgen, and ICBP Consortia.
EBI GWAS Catalog
Genetic variants and environmental factors associated with hormonal markers of ovarian reserve in Caucasian and African American women.
EBI GWAS Catalog
Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.
EBI GWAS Catalog
Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure.
EBI GWAS Catalog
Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.
EBI GWAS Catalog
Hundreds of variants clustered in genomic loci and biological pathways affect human height.
EBI GWAS Catalog
Meta-analysis of genome-wide association studies identifies common variants associated with blood pressure variation in east Asians.
EBI GWAS Catalog
Meta-analysis of genome-wide scans for human adult stature identifies novel Loci and associations with measures of skeletal frame size.
EBI GWAS Catalog

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Tat tat Microarray analysis indicates HIV-1 Tat-induced downregulation of natriuretic peptide receptor 3 (NPR3) in primary human brain microvascular endothelial cells PubMed

Go to the HIV-1, Human Interaction Database

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ14054, MGC22189

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables G protein-coupled peptide receptor activity ISS
Inferred from Sequence or Structural Similarity
more info
 
enables chloride ion binding IDA
Inferred from Direct Assay
more info
PubMed 
enables hormone binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables natriuretic peptide receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables natriuretic peptide receptor activity IDA
Inferred from Direct Assay
more info
PubMed 
enables peptide binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables peptide hormone binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables peptide hormone binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables peptide hormone binding ISS
Inferred from Sequence or Structural Similarity
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein homodimerization activity IDA
Inferred from Direct Assay
more info
PubMed 
enables signaling receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
involved_in adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of adenylate cyclase activity IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of cold-induced thermogenesis ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
involved_in negative regulation of smooth muscle cell proliferation IEA
Inferred from Electronic Annotation
more info
 
involved_in osteoclast proliferation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in pancreatic juice secretion IEA
Inferred from Electronic Annotation
more info
 
involved_in phosphatidylinositol-mediated signaling IEA
Inferred from Electronic Annotation
more info
 
involved_in phospholipase C-activating G protein-coupled receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of nitric-oxide synthase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of urine volume 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 osteoblast proliferation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in skeletal system development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in vasodilation IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
atrial natriuretic peptide receptor 3
Names
atrial natriuretic peptide clearance receptor
atrial natriuretic peptide receptor type C
atrionatriuretic peptide receptor C
guanylate cyclase C
natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)

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_028162.2 RefSeqGene

    Range
    27246..107645
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000908.4NP_000899.1  atrial natriuretic peptide receptor 3 isoform 2 precursor

    See identical proteins and their annotated locations for NP_000899.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region compared to variant 1. The resulting protein (isoform 2) is shorter compared to isoform 1.
    Source sequence(s)
    AC008766, AC026703, AF025998
    Consensus CDS
    CCDS47196.1
    UniProtKB/Swiss-Prot
    P17342
    UniProtKB/TrEMBL
    Q60I31
    Related
    ENSP00000398028.2, ENST00000415167.2
    Conserved Domains (3) summary
    cd06386
    Location:54446
    PBP1_NPR_C_like; Ligand-binding domain of type C natriuretic peptide receptor
    cd12841
    Location:471506
    TM_EphA1; Transmembrane domain of Ephrin Receptor A1 Protein Tyrosine Kinase
    pfam01094
    Location:71422
    ANF_receptor; Receptor family ligand binding region
  2. NM_001204375.2NP_001191304.1  atrial natriuretic peptide receptor 3 isoform 1 precursor

    See identical proteins and their annotated locations for NP_001191304.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest protein (isoform 1).
    Source sequence(s)
    AC008766, AC026703, AK290870
    Consensus CDS
    CCDS56357.1
    UniProtKB/Swiss-Prot
    E7EPG9, P17342
    UniProtKB/TrEMBL
    A8K4A5
    Related
    ENSP00000265074.8, ENST00000265074.13
    Conserved Domains (3) summary
    cd06386
    Location:54446
    PBP1_NPR_C_like; Ligand-binding domain of type C natriuretic peptide receptor
    cd12841
    Location:476507
    TM_EphA1; Transmembrane domain of Ephrin Receptor A1 Protein Tyrosine Kinase
    pfam01094
    Location:71422
    ANF_receptor; Receptor family ligand binding region
  3. NM_001204376.2NP_001191305.1  atrial natriuretic peptide receptor 3 isoform 3

    See identical proteins and their annotated locations for NP_001191305.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (3) has a distinct N-terminus and is shorter than isoform 1.
    Source sequence(s)
    AC008766, AC026703, AK300094
    Consensus CDS
    CCDS56356.1
    UniProtKB/Swiss-Prot
    P17342
    Related
    ENSP00000318340.2, ENST00000326958.5
    Conserved Domains (2) summary
    cl10011
    Location:39230
    Periplasmic_Binding_Protein_Type_1; Type 1 periplasmic binding fold superfamily
    cl25995
    Location:255290
    TM_EphA1; Transmembrane domain of Ephrin Receptor A1 Protein Tyrosine Kinase
  4. NM_001363652.2NP_001350581.1  atrial natriuretic peptide receptor 3 isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (4) has a distinct N-terminus and is shorter than isoform 1.
    Source sequence(s)
    AC008766, AC026703
    Consensus CDS
    CCDS87291.1
    UniProtKB/TrEMBL
    C9JK69
    Related
    ENSP00000388408.2, ENST00000434067.6
    Conserved Domains (2) summary
    cl10011
    Location:39230
    Periplasmic_Binding_Protein_Type_1; Type 1 periplasmic binding fold superfamily
    cl25995
    Location:260291
    TM_EphA1; Transmembrane domain of Ephrin Receptor A1 Protein Tyrosine Kinase
  5. NM_001364458.2NP_001351387.1  atrial natriuretic peptide receptor 3 isoform 5

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (5) has a shorter and distinct N-terminus compared to isoform 1.
    Source sequence(s)
    AC008766, AC026703
    Conserved Domains (2) summary
    cl10011
    Location:17206
    Periplasmic_Binding_Protein_Type_1; Type 1 periplasmic binding fold superfamily
    cl25995
    Location:236267
    TM_EphA1; Transmembrane domain of Ephrin Receptor A1 Protein Tyrosine Kinase
  6. NM_001364460.2NP_001351389.1  atrial natriuretic peptide receptor 3 isoform 6

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) differs in the 5' UTR and coding sequence and lacks an alternate in-frame exon compared to variant 1. The resulting isoform (6) has a shorter and distinct N-terminus and lacks an alternate internal segment compared to isoform 1.
    Source sequence(s)
    AC008766, AC026703
    Conserved Domains (2) summary
    cl10011
    Location:41189
    Periplasmic_Binding_Protein_Type_1; Type 1 periplasmic binding fold superfamily
    cl25995
    Location:219250
    TM_EphA1; Transmembrane domain of Ephrin Receptor A1 Protein Tyrosine Kinase

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    32690872..32791720
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    32804528..32905709
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_024563.3: Suppressed sequence

    Description
    NM_024563.3: This RefSeq was permanently suppressed because it is now thought that this gene does not encode a protein.