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    NPPA natriuretic peptide A [ Homo sapiens (human) ]

    Gene ID: 4878, updated on 7-Sep-2023

    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
    NEW
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    Try the new Transcript table

    Genomic context

    See NPPA in Genome Data Viewer
    Location:
    1p36.22
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2023_03 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (11845709..11847783, complement)
    RS_2023_03 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (11389795..11391868, complement)
    105.20220307 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 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 H3K27ac hESC enhancer GRCh37_chr1:11865893-11866878 Neighboring gene chloride voltage-gated channel 6 Neighboring gene VISTA enhancer hs2123 Neighboring gene NPPA antisense RNA 1 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: 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
    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

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables hormone activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables hormone receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables hormone receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables neuropeptide hormone activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables neuropeptide receptor binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables signaling receptor binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables signaling receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in aortic valve morphogenesis TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in cGMP biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    acts_upstream_of cGMP biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cGMP-mediated signaling IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in cardiac conduction system development NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in cardiac muscle hypertrophy in response to stress IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in female pregnancy ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of JUN kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of systemic arterial blood pressure IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in neuropeptide signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in neuropeptide signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of cardiac muscle contraction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of delayed rectifier potassium channel activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of heart rate IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of potassium ion export across plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein folding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in receptor guanylyl cyclase signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in receptor guanylyl cyclase signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of atrial cardiac muscle cell membrane repolarization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of blood pressure IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of calcium ion transmembrane transport via high voltage-gated calcium channel ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in regulation of high voltage-gated calcium channel activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in response to muscle stretch TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in sodium ion export across plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in vasodilation IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in cell projection IEA
    Inferred from Electronic Annotation
    more info
     
    located_in collagen-containing extracellular matrix HDA PubMed 
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in extracellular region NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in extracellular region TAS
    Traceable Author Statement
    more info
     
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in perikaryon IEA
    Inferred from Electronic Annotation
    more info
     
    part_of protein-containing complex IDA
    Inferred from Direct Assay
    more info
    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)

    NEW Try the new Transcript table

    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_2023_03

    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)