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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]
NPPA (Natriuretic Peptide A) is a Protein Coding gene. Diseases associated with NPPA include Atrial Standstill 2 and Atrial Fibrillation, Familial, 6. Among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and MicroRNAs in cardiomyocyte hypertrophy. Gene Ontology (GO) annotations related to this gene include signaling receptor binding and neuropeptide hormone activity. An important paralog of this gene is NPPB.
Natriuretic peptide (NP) receptors are single transmembrane catalytic receptors with intracellular guanylyl cyclase activity. There are three isoforms of NP receptors; NPR1-3, which have conserved catalytic and regulatory domains and divergent ligand binding domains.
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH01J011846 | Promoter/Enhancer | 1.1 | VISTA EPDnew Ensembl | 600.7 | +0.6 | 631 | 1.8 | POLR2A RCOR1 CHD2 | ENSG00000275915 NPPA NPPA-AS1 CLCN6 MIIP MTHFR | |
GH01J011989 | Enhancer | 1.3 | FANTOM5 Ensembl ENCODE dbSUPER | 1.9 | -142.2 | -142164 | 2.2 | GATAD2A REST TFE3 RXRB SP1 EED ETS1 ZBTB26 FOXA2 ATF3 | MFN2 MIIP PLOD1 KIAA2013 RNU5E-1 RNU5E-4P NPPB NPPA NONHSAG000387.2 RF00017-065 | |
GH01J011840 | Enhancer | 1.2 | Ensembl ENCODE | 0.4 | +5.9 | 5919 | 4.3 | GATAD2A ATF7 REST TFE3 ZNF512 LEF1 SOX13 IKZF1 NFKBIZ JUND | ENSG00000276470 piR-35944 NPPA-AS1 TARDBP ENSG00000226849 EXOSC10 MTHFR CLCN6 MIIP NPPA | |
GH01J011838 | Enhancer | 0.9 | ENCODE | 0.4 | +9.5 | 9506 | 0.2 | GATAD2A CTCF ZNF692 POLR2A JUND STAT3 ZNF143 RXRB ZNF24 REST | NPPA-AS1 piR-35944 NPPA lnc-C1orf167-1 MTHFR CLCN6 | |
GH01J011850 | Enhancer | 0.5 | Ensembl | 0.7 | -3.3 | -3256 | 2 | REST ZBTB5 POLR2A MYC MAX | NPPA-AS1 NPPA NPPB |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005102 | signaling receptor binding | IPI | 16870210 |
GO:0005179 | hormone activity | IEA,IBA | 21873635 |
GO:0005184 | neuropeptide hormone activity | IMP | 19646991 |
GO:0005515 | protein binding | IPI | 25416956 |
GO:0051427 | hormone receptor binding | IBA,IPI | 1660465 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | IEA,TAS | -- |
GO:0005615 | extracellular space | IEA,IBA | 21873635 |
GO:0005634 | nucleus | IEA,IBA | 21873635 |
GO:0005737 | cytoplasm | IEA,IBA | 21873635 |
GO:0005903 | brush border | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Cardiac conduction | ||
2 | Oxytocin signaling pathway | ||
3 | Gene Expression |
.48
|
|
4 | MicroRNAs in cardiomyocyte hypertrophy | ||
5 | African trypanosomiasis |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001666 | response to hypoxia | IEA | -- |
GO:0003085 | negative regulation of systemic arterial blood pressure | IBA | 21873635 |
GO:0006182 | cGMP biosynthetic process | IDA | 1672777 |
GO:0006367 | transcription initiation from RNA polymerase II promoter | TAS | -- |
GO:0006457 | protein folding | IDA | 16870210 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Chlorthalidone | Approved | Pharma | 75 | |||
Amlodipine | Approved | Pharma | Calcium channel blocker | 584 | ||
Atrial natriuretic factor (1-28) (rat) | Pharma | Endogenous peptide regulating blood pressure | 0 | |||
Brain natriuretic peptide (1-32) (human) | Pharma | Endogenous peptide agonist at ANP receptor A (NPR1) | 0 | |||
BNP (1-32), human | Pharma | Brain natriuretic peptide | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
AP 811 |
|
124833-45-0 |
|
|
||
Atrial natriuretic factor (1-28) (human, porcine) |
|
91917-63-4 |
|
|
Compound | Action | Cas Number |
---|---|---|
AP 811 | High affinity, selective NPR3 antagonist | 124833-45-0 |
Atrial natriuretic factor (1-28) (human, porcine) | Endogenous peptide regulating blood pressure | 91917-63-4 |
Atrial natriuretic factor (1-28) (rat) | Endogenous peptide regulating blood pressure | 88898-17-3 |
Brain natriuretic peptide (1-32) (human) | Endogenous peptide agonist at ANP receptor A (NPR1) | 124584-08-3 |
C-type natriuretic peptide (1-22) (human, rat, swine) | Endogenous peptide agonist at NPR2 | 127869-51-6 |
Compound | Action | Cas Number |
---|---|---|
Atrial natriuretic factor (1-28) (rat) | 88898-17-3 | |
BNP (1-32), human | Brain natriuretic peptide | 114471-18-0 |
Brain natriuretic peptide (1-32) (human) | 124584-08-3 |
This gene was present in the common ancestor of mammals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | NPPA 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | NPPA 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | NPPA 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Nppa 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Nppa 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | NPPA 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | NPPA 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
642370 | Uncertain Significance: Atrial fibrillation, familial, 6 | 11,847,355(-) | C/A | MISSENSE_VARIANT | |
643252 | Uncertain Significance: Atrial fibrillation, familial, 6 | 11,847,213(-) | G/A | MISSENSE_VARIANT | |
644514 | Uncertain Significance: Atrial fibrillation, familial, 6 | 11,847,573(-) | T/C | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
652171 | Uncertain Significance: Atrial fibrillation, familial, 6 | 11,847,196(-) | G/T | SYNONYMOUS_VARIANT | |
727649 | Likely Benign: not provided | 11,847,404(-) | T/C | SYNONYMOUS_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
atrial standstill 2 |
|
|
atrial fibrillation, familial, 6 |
|
|
atrial standstill |
|
|
familial atrial fibrillation |
|
|
atrial fibrillation |
|