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MGP002125

UniProt Annotations

Entry Information
Gene Namenatriuretic peptide A
Protein EntryANF_HUMAN
UniProt IDP01160
SpeciesHuman
Comments
Comment typeDescription
DiseaseAtrial fibrillation, familial, 6 (ATFB6) [MIM:612201]: A familial form of atrial fibrillation, a common sustained cardiac rhythm disturbance. Atrial fibrillation is characterized by disorganized atrial electrical activity and ineffective atrial contraction promoting blood stasis in the atria and reduces ventricular filling. It can result in palpitations, syncope, thromboembolic stroke, and congestive heart failure. {ECO:0000269|PubMed:18614783}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseAtrial standstill 2 (ATRST2) [MIM:615745]: A rare arrhythmia characterized by the absence of electrical and mechanical activity in the atria. Electrocardiographically, it is characterized by bradycardia, the absence of P waves, and a junctional narrow complex escape rhythm. {ECO:0000269|PubMed:23275345}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionHormone 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. {ECO:0000269|PubMed:1672777}.
PolymorphismThere 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.
PtmAtrial natriuretic factor: Cleaved by MME. The cleavage initiates degradation of the factor and thereby regulate its activity. {ECO:0000269|PubMed:2972276}.
PtmCleaved by CORIN upon secretion to produce the functional hormone. {ECO:0000269|PubMed:10880574, ECO:0000269|PubMed:14559895}.
Sequence CautionSequence=CAA15955.2; Type=Erroneous initiation; Evidence={ECO:0000305};
SimilarityBelongs to the natriuretic peptide family. {ECO:0000305}.
Subcellular LocationSecreted.
Web ResourceName=Wikipedia; Note=Atrial natriuretic peptide entry; URL="http://en.wikipedia.org/wiki/Atrial_natriuretic_peptide";
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