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NPPA natriuretic peptide A [ Homo sapiens (human) ]

Gene ID: 4878, updated on 4-Jan-2025

Summary

Official Symbol
NPPAprovided by HGNC
Official Full Name
natriuretic peptide Aprovided by HGNC
Primary source
HGNC:HGNC:7939
See related
Ensembl:ENSG00000175206 MIM:108780; AllianceGenome:HGNC:7939
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
ANF; ANP; CDD; CDP; PND; ATFB6; ATRST2; CDD-ANF
Summary
The protein encoded by this gene belongs to the natriuretic peptide family. Natriuretic peptides are implicated in the control of extracellular fluid volume and electrolyte homeostasis. This protein is synthesized as a large precursor (containing a signal peptide), which is processed to release a peptide from the N-terminus with similarity to vasoactive peptide, cardiodilatin, and another peptide from the C-terminus with natriuretic-diuretic activity. Mutations in this gene have been associated with atrial fibrillation familial type 6. This gene is located adjacent to another member of the natriuretic family of peptides on chromosome 1. [provided by RefSeq, Oct 2015]
Expression
Restricted expression toward heart (RPKM 12159.5) See more
Orthologs
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Genomic context

See NPPA in Genome Data Viewer
Location:
1p36.22
Exon count:
3
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (11845709..11847783, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (11389795..11391868, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (11905766..11907840, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene chromosome 1 open reading frame 167 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:11847781-11848588 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:11851353-11851865 Neighboring gene methylenetetrahydrofolate reductase Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:11860626-11861224 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:11862804-11863700 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:11863701-11864596 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 272 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 273 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:11865893-11866878 Neighboring gene chloride voltage-gated channel 6 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 178 Neighboring gene VISTA enhancer hs2123 Neighboring gene NPPA antisense RNA 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:11919401-11919567 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:11927350-11927499 Neighboring gene natriuretic peptide B Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:11940245-11940745 Neighboring gene SBF1 pseudogene 2

Genomic regions, transcripts, and products

Expression

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Atrial fibrillation, familial, 6
MedGen: C2677294 OMIM: 612201 GeneReviews: Not available
Compare labs
Atrial standstill 2
MedGen: C3810401 OMIM: 615745 GeneReviews: Not available
Compare labs

EBI GWAS Catalog

Description
Genome-wide association study identifies eight loci associated with blood pressure.
EBI GWAS Catalog
Variants in ZFHX3 are associated with atrial fibrillation in individuals of European ancestry.
EBI GWAS Catalog

Pathways from PubChem

Interactions

General gene information

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables hormone activity  
enables hormone receptor binding  
enables hormone receptor binding PubMed 
enables neuropeptide hormone activity PubMed 
enables neuropeptide receptor binding PubMed 
enables protein binding PubMed 
enables signaling receptor binding PubMed 
enables signaling receptor binding PubMed 
Items 1 - 25 of 27
Process Evidence Code Pubs
involved_in aortic valve morphogenesis PubMed 
involved_in cGMP biosynthetic process  
acts_upstream_of cGMP biosynthetic process PubMed 
involved_in cGMP-mediated signaling  
involved_in cardiac conduction system development PubMed 
involved_in cardiac muscle hypertrophy in response to stress  
involved_in female pregnancy  
involved_in negative regulation of JUN kinase activity PubMed 
involved_in negative regulation of canonical Wnt signaling pathway PubMed 
involved_in negative regulation of epidermal growth factor receptor signaling pathway PubMed 
involved_in negative regulation of systemic arterial blood pressure  
involved_in neuropeptide signaling pathway  
involved_in neuropeptide signaling pathway PubMed 
involved_in positive regulation of cardiac muscle contraction PubMed 
involved_in positive regulation of delayed rectifier potassium channel activity PubMed 
involved_in positive regulation of heart rate PubMed 
involved_in positive regulation of potassium ion export across plasma membrane PubMed 
involved_in protein folding PubMed 
involved_in receptor guanylyl cyclase signaling pathway  
involved_in receptor guanylyl cyclase signaling pathway PubMed 
involved_in regulation of atrial cardiac muscle cell membrane repolarization PubMed 
involved_in regulation of blood pressure PubMed 
involved_in regulation of calcium ion transmembrane transport via high voltage-gated calcium channel PubMed 
involved_in regulation of high voltage-gated calcium channel activity PubMed 
involved_in response to muscle stretch PubMed 
involved_in sodium ion export across plasma membrane  
involved_in vasodilation  
Items 1 - 25 of 27
Component Evidence Code Pubs
located_in cell projection  
located_in collagen-containing extracellular matrix PubMed 
is_active_in cytoplasm  
located_in extracellular region PubMed 
located_in extracellular region  
is_active_in extracellular space  
located_in perikaryon  
part_of protein-containing complex PubMed 

General protein information

Preferred Names
natriuretic peptides A
Names
atrial natriuretic factor prohormone
atrial natriuretic peptide prohormone
atriopeptigen
atriopeptin
cardiodilatin-related peptide
cardionatrin
natriuretic peptide precursor A
preproANP
preproCDD-ANF
prepronatriodilatin
proANF
proANP

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_012926.1 RefSeqGene

    Range
    5001..7075
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_751

mRNA and Protein(s)

  1. NM_006172.4NP_006163.1  natriuretic peptides A preproprotein

    See identical proteins and their annotated locations for NP_006163.1

    Status: REVIEWED

    Source sequence(s)
    AA779538, BC005893
    Consensus CDS
    CCDS139.1
    UniProtKB/Swiss-Prot
    P01160, Q13766, Q5JZE1
    Related
    ENSP00000365663.3, ENST00000376480.7
    Conserved Domains (1) summary
    smart00183
    Location:123146
    NAT_PEP; Natriuretic peptide

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_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    11845709..11847783 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    11389795..11391868 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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