Format

Send to:

Choose Destination

Links from PubMed

    • Showing Current items.

    NPPA natriuretic peptide A [ Homo sapiens (human) ]

    Gene ID: 4878, updated on 19-Mar-2017
    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]
    Orthologs
    Location:
    1p36.22
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 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
    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 
    receptor binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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 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 
    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
    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 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, OTTHUMP00000002504, ENST00000376480, OTTHUMT00000006852
      Conserved Domains (1) summary
      smart00183
      Location:123146
      NAT_PEP; Natriuretic peptide

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p7 Primary Assembly

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

    Alternate CHM1_1.1

    Genomic

    1. NC_018912.2 Alternate CHM1_1.1

      Range
      11893660..11895736 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Support Center