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NPPA natriuretic peptide A [ Homo sapiens (human) ]

Gene ID: 4878, updated on 3-Jun-2018
Official Symbol
NPPAprovided by HGNC
Official Full Name
natriuretic peptide Aprovided by HGNC
Primary source
HGNC:HGNC:7939
See related
Ensembl:ENSG00000175206 MIM:108780; Vega:OTTHUMG00000002388
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
See NPPA in Genome Data Viewer
Location:
1p36.22
Exon count:
3
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (11845709..11847783, complement)
105 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 uncharacterized LOC102724659 Neighboring gene methylenetetrahydrofolate reductase Neighboring gene chloride voltage-gated channel 6 Neighboring gene NPPA antisense RNA 1 Neighboring gene natriuretic peptide B Neighboring gene SET binding factor 1 pseudogene

  • 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 Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

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

NHGRI GWAS Catalog

Description
Genome-wide association study identifies eight loci associated with blood pressure.
NHGRI GWA Catalog
Variants in ZFHX3 are associated with atrial fibrillation in individuals of European ancestry.
NHGRI GWA Catalog
  • Amyloid fiber formation, organism-specific biosystem (from REACTOME)
    Amyloid fiber formation, organism-specific biosystemAmyloid is a term used to describe deposits of fibrillar proteins, typically extracellular. The abnormal accumulation of amyloid, amyloidosis, is a term associated with tissue damage caused by amyloi...
  • Cardiac Hypertrophic Response, organism-specific biosystem (from WikiPathways)
    Cardiac Hypertrophic Response, organism-specific biosystemIntegrated schematic of the more extensively characterized intracellular signal-transduction pathways that coordinate the cardiac hypertrophic response. During development and in response to physiolo...
  • Cardiac conduction, organism-specific biosystem (from REACTOME)
    Cardiac conduction, organism-specific biosystemThe normal sequence of contraction of atria and ventricles of the heart require activation of groups of cardiac cells. The mechanism must elicit rapid changes in heart rate and respond to changes in ...
  • Gene Expression, organism-specific biosystem (from REACTOME)
    Gene Expression, organism-specific biosystemGene Expression covers the pathways by which genomic DNA is transcribed to yield RNA, the regulation of these transcription processes, and the pathways by which newly-made RNA Transcripts are process...
  • Generic Transcription Pathway, organism-specific biosystem (from REACTOME)
    Generic Transcription Pathway, organism-specific biosystemOVERVIEW OF TRANSCRIPTION REGULATION: Detailed studies of gene transcription regulation in a wide variety of eukaryotic systems has revealed the general principles and mechanisms by which cell- or t...
  • HIF-1 signaling pathway, organism-specific biosystem (from KEGG)
    HIF-1 signaling pathway, organism-specific biosystemHypoxia-inducible factor 1 (HIF-1) is a transcription factor that functions as a master regulator of oxygen homeostasis. It consists of two subunits: an inducibly-expressed HIF-1alpha subunit and a c...
  • Metabolism of proteins, organism-specific biosystem (from REACTOME)
    Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
  • MicroRNAs in cardiomyocyte hypertrophy, organism-specific biosystem (from WikiPathways)
    MicroRNAs in cardiomyocyte hypertrophy, organism-specific biosystemThis pathway shows the role of microRNAs in the process of cardiac hypertrophy. MicroRNA targets were predicted by the TargetScan algorithm, and the predicted interactions are shown in red dashed lin...
  • Muscle contraction, organism-specific biosystem (from REACTOME)
    Muscle contraction, organism-specific biosystemIn this module, the processes by which calcium binding triggers actin - myosin interactions and force generation in smooth and striated muscle tissues are annotated.
  • Physiological factors, organism-specific biosystem (from REACTOME)
    Physiological factors, organism-specific biosystemCardiovascular homeostasis can be regulated by natriuretic peptides (Pandey 2014).
  • YAP1- and WWTR1 (TAZ)-stimulated gene expression, organism-specific biosystem (from REACTOME)
    YAP1- and WWTR1 (TAZ)-stimulated gene expression, organism-specific biosystemYAP1 and WWTR1 (TAZ) are transcriptional co-activators, both homologues of the Drosophila Yorkie protein. They both interact with members of the TEAD family of transcription factors, and WWTR1 intera...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
hormone receptor binding IPI
Inferred from Physical Interaction
more info
PubMed 
neuropeptide hormone activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
neuropeptide receptor binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
peptide hormone receptor binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
signaling receptor binding IDA
Inferred from Direct Assay
more info
PubMed 
signaling receptor binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
cGMP biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
cardiac muscle hypertrophy in response to stress IEA
Inferred from Electronic Annotation
more info
 
cell growth involved in cardiac muscle cell development IEA
Inferred from Electronic Annotation
more info
 
cellular protein metabolic process TAS
Traceable Author Statement
more info
 
cellular response to mechanical stimulus IEA
Inferred from Electronic Annotation
more info
 
female pregnancy ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of cell growth IEA
Inferred from Electronic Annotation
more info
 
negative regulation of collecting lymphatic vessel constriction IEA
Inferred from Electronic Annotation
more info
 
negative regulation of systemic arterial blood pressure IEA
Inferred from Electronic Annotation
more info
 
neuropeptide signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of cardiac muscle contraction IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of delayed rectifier potassium channel activity IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of heart rate IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of histamine secretion by mast cell IEA
Inferred from Electronic Annotation
more info
 
positive regulation of potassium ion export across plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
protein folding IDA
Inferred from Direct Assay
more info
PubMed 
receptor guanylyl cyclase signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
regulation of atrial cardiac muscle cell membrane repolarization IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of blood pressure IDA
Inferred from Direct Assay
more info
PubMed 
regulation of blood vessel size IEA
Inferred from Electronic Annotation
more info
 
regulation of calcium ion transmembrane transport via high voltage-gated calcium channel ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
regulation of cardiac conduction TAS
Traceable Author Statement
more info
 
regulation of high voltage-gated calcium channel activity ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
regulation of signaling receptor activity IEA
Inferred from Electronic Annotation
more info
 
response to hypoxia IEA
Inferred from Electronic Annotation
more info
 
response to insulin IEA
Inferred from Electronic Annotation
more info
 
response to muscle stretch TAS
Traceable Author Statement
more info
PubMed 
transcription initiation from RNA polymerase II promoter TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
collagen-containing extracellular matrix HDA PubMed 
extracellular region NAS
Non-traceable Author Statement
more info
PubMed 
extracellular region TAS
Traceable Author Statement
more info
 
extracellular space IEA
Inferred from Electronic Annotation
more info
 
mast cell granule IEA
Inferred from Electronic Annotation
more info
 
nucleus IEA
Inferred from Electronic Annotation
more info
 
perinuclear region of cytoplasm IEA
Inferred from Electronic Annotation
more info
 
protein-containing complex IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
natriuretic peptides A
Names
atriopeptin
cardiodilatin-related peptide
cardionatrin
natriuretic peptide precursor A variant 1
prepronatriodilatin

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_006172.3NP_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
    Related
    ENSP00000365663.3, OTTHUMP00000002504, ENST00000376480.7, OTTHUMT00000006852
    Conserved Domains (1) summary
    smart00183
    Location:123146
    NAT_PEP; Natriuretic peptide

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

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