Description: Homo sapiens natriuretic peptide A (NPPA), mRNA. RefSeq Summary (NM_006172): 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]. Transcript (Including UTRs) Position: hg19 chr1:11,905,767-11,907,840 Size: 2,074 Total Exon Count: 3 Strand: - Coding Region Position: hg19 chr1:11,906,066-11,907,741 Size: 1,676 Coding Exon Count: 3
ID:ANF_HUMAN DESCRIPTION: RecName: Full=Natriuretic peptides A; AltName: Full=CDD-ANF; AltName: Full=Prepronatriodilatin; Contains: RecName: Full=Cardiodilatin-related peptide; Short=CDP; Contains: RecName: Full=Atrial natriuretic factor; Short=ANF; AltName: Full=Atrial natriuretic peptide; Short=ANP; Flags: Precursor; FUNCTION: Hormone playing a key role in cardiovascular homeostasis through regulation of natriuresis, diuresis, and vasodilation. Also plays a role in female pregnancy by promoting trophoblast invasion and spiral artery remodeling in uterus. Specifically binds and stimulates the cGMP production of the NPR1 receptor. Binds the clearance receptor NPR3. SUBCELLULAR LOCATION: Secreted. PTM: Cleaved by CORIN upon secretion to produce the functional hormone. POLYMORPHISM: There are two different prepronatriodilatin alleles. One codes for 2 Arg residues at the C-terminus that are cleaved to form the mature peptide, while the other ends in a termination codon immediately after the last codon of the mature peptide. DISEASE: Defects in NPPA are the cause of familial atrial fibrillation type 6 (ATFB6) [MIM:612201]. Atrial fibrillation is a common disorder of cardiac rhythm that is hereditary in a small subgroup of patients. It is characterized by disorganized atrial electrical activity, progressive deterioration of atrial electromechanical function and ineffective pumping of blood into the ventricles. It can be associated with palpitations, syncope, thromboembolic stroke, and congestive heart failure. SIMILARITY: Belongs to the natriuretic peptide family. SEQUENCE CAUTION: Sequence=CAA15955.2; Type=Erroneous initiation; WEB RESOURCE: Name=Wikipedia; Note=Atrial natriuretic peptide entry; URL="http://en.wikipedia.org/wiki/Atrial_natriuretic_peptide";
albuminuria Nannipieri, M. et al. 2003, Association between polymorphisms of the atrial natriuretic peptide gene and proteinuria: apopulation-based study., Diabetologia. 2003 Mar;46(3):429-32.
[PubMed 12687344]
In the general population of Mexico City, both polymorphisms of ANP are associated with albuminuria independently of hypertension, and could play a role in protecting subjects against development of albuminuria.
aldosterone responsiveness to angiotensin Tunny TJ et al. 1994, Association of restriction fragment length polymorphism at the atrial natriuretic peptide gene locus with aldosterone responsiveness to angiotensin in aldosterone-producing adenoma., Biochemical and biophysical research communications. 1994 Nov;204(3):1312-7.
[PubMed 7980610]
Asthma| Angela J Rogers , et al. American journal of respiratory and critical care medicine 2009 179(12):1084-90, Assessing the reproducibility of asthma candidate gene associations, using genome-wide data., American journal of respiratory and critical care medicine 2009 179(12):1084-90.
[PubMed 19264973]
We replicated asthma associations for a minority of candidate genes.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P01160
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0001666 response to hypoxia GO:0003085 negative regulation of systemic arterial blood pressure GO:0006182 cGMP biosynthetic process GO:0006367 transcription initiation from RNA polymerase II promoter GO:0006457 protein folding GO:0007168 receptor guanylyl cyclase signaling pathway GO:0007218 neuropeptide signaling pathway GO:0007565 female pregnancy GO:0008217 regulation of blood pressure GO:0010460 positive regulation of heart rate GO:0010469 regulation of receptor activity GO:0014898 cardiac muscle hypertrophy in response to stress GO:0030308 negative regulation of cell growth GO:0032868 response to insulin GO:0035994 response to muscle stretch GO:0044267 cellular protein metabolic process GO:0050880 regulation of blood vessel size GO:0060372 regulation of atrial cardiac muscle cell membrane repolarization GO:0060452 positive regulation of cardiac muscle contraction GO:0061049 cell growth involved in cardiac muscle cell development GO:0071260 cellular response to mechanical stimulus GO:1901841 regulation of high voltage-gated calcium channel activity GO:1902261 positive regulation of delayed rectifier potassium channel activity GO:1902514 regulation of calcium ion transmembrane transport via high voltage-gated calcium channel GO:1903595 positive regulation of histamine secretion by mast cell GO:1903766 positive regulation of potassium ion export across plasma membrane GO:1903779 regulation of cardiac conduction GO:1903815 negative regulation of collecting lymphatic vessel constriction
E00562 - CDNA encoding gamma human atrium natriuretic polypeptide. E05725 - gamma-hANP gene. BC005893 - Homo sapiens natriuretic peptide precursor A, mRNA (cDNA clone MGC:14467 IMAGE:4273949), complete cds. M30262 - Human cardiodilatin-atrial natriuretic factor (CDD-ANF) mRNA, complete cds. JD221501 - Sequence 202525 from Patent EP1572962. JD546147 - Sequence 527171 from Patent EP1572962. JD268100 - Sequence 249124 from Patent EP1572962. JD252749 - Sequence 233773 from Patent EP1572962. JD426423 - Sequence 407447 from Patent EP1572962. E00468 - cDNA coding for cardionatrin. E01124 - cDNA coding human cardionatrin precursor. JD242051 - Sequence 223075 from Patent EP1572962. JD040037 - Sequence 21061 from Patent EP1572962. JD175478 - Sequence 156502 from Patent EP1572962. K02044 - Human prepronatriodilatin gene, atrial natriuretic factor coding region. AB528342 - Synthetic construct DNA, clone: pF1KE0902, Homo sapiens NPPA gene for natriuretic peptide precursor A, without stop codon, in Flexi system. KJ897262 - Synthetic construct Homo sapiens clone ccsbBroadEn_06656 NPPA gene, encodes complete protein. KR710208 - Synthetic construct Homo sapiens clone CCSBHm_00010347 NPPA (NPPA) mRNA, encodes complete protein. DQ893115 - Synthetic construct clone IMAGE:100005745; FLH193874.01X; RZPDo839C1279D natriuretic peptide precursor A (NPPA) gene, encodes complete protein. DQ896389 - Synthetic construct Homo sapiens clone IMAGE:100010849; FLH193870.01L; RZPDo839C1269D natriuretic peptide precursor A (NPPA) gene, encodes complete protein. EU176780 - Synthetic construct Homo sapiens clone IMAGE:100011669; FLH264107.01L; RZPDo839E08257D natriuretic peptide precursor A (NPPA) gene, encodes complete protein. E01044 - cDNA encoding human cardiodilatin. E01558 - cDNA encoding atrial vasodilatin-like protein of human heart. E01583 - cDNA encoding human atrial vasodilatin-like peptide. JD444982 - Sequence 426006 from Patent EP1572962. JD168993 - Sequence 150017 from Patent EP1572962.
Biochemical and Signaling Pathways
KEGG - Kyoto Encyclopedia of Genes and Genomes hsa04270 - Vascular smooth muscle contraction
BioCarta from NCI Cancer Genome Anatomy Project h_alkPathway - ALK in cardiac myocytes h_gcrPathway - Corticosteroids and cardioprotection h_nfatPathway - NFAT and Hypertrophy of the heart (Transcription in the broken heart)
Reactome (by CSHL, EBI, and GO)
Protein P01160 (Reactome details) participates in the following event(s):
US Server
