ENSG00000175206


Homo sapiens

Features
Gene ID: ENSG00000175206
  
Biological name :NPPA
  
Synonyms : natriuretic peptide A / NPPA / P01160
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 1
Strand: -1
Band: p36.22
Gene start: 11845709
Gene end: 11848345
  
Corresponding Affymetrix probe sets: 209957_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000365659
Ensembl peptide - ENSP00000483195
Ensembl peptide - ENSP00000365663
NCBI entrez gene - 4878     See in Manteia.
OMIM - 108780
RefSeq - NM_006172
RefSeq Peptide - NP_006163
swissprot - B0ZBE8
swissprot - A0A087X094
swissprot - P01160
Ensembl - ENSG00000175206
  
Related genetic diseases (OMIM): 612201 - Atrial fibrillation, familial, 6, 612201
  615745 - Atrial standstill 2, 615745
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 NppaENSMUSG00000041616Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR000663  Natriuretic peptide
 IPR002407  Natriuretic peptide, atrial type
 IPR030480  Natriuretic peptide, conserved site


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001666 response to hypoxia IEA
 biological_processGO:0003085 negative regulation of systemic arterial blood pressure IEA
 biological_processGO:0006182 cGMP biosynthetic process IEA
 biological_processGO:0006367 transcription initiation from RNA polymerase II promoter TAS
 biological_processGO:0006457 protein folding IDA
 biological_processGO:0007168 receptor guanylyl cyclase signaling pathway IDA
 biological_processGO:0007218 neuropeptide signaling pathway IDA
 biological_processGO:0007565 female pregnancy IEA
 biological_processGO:0008217 regulation of blood pressure IEA
 biological_processGO:0010460 positive regulation of heart rate IMP
 biological_processGO:0010469 regulation of signaling receptor activity IEA
 biological_processGO:0014898 cardiac muscle hypertrophy in response to stress IEA
 biological_processGO:0030308 negative regulation of cell growth IEA
 biological_processGO:0032868 response to insulin IEA
 biological_processGO:0035994 response to muscle stretch TAS
 biological_processGO:0044267 cellular protein metabolic process TAS
 biological_processGO:0050880 regulation of blood vessel size IEA
 biological_processGO:0060372 regulation of atrial cardiac muscle cell membrane repolarization IMP
 biological_processGO:0060452 positive regulation of cardiac muscle contraction IMP
 biological_processGO:0061049 cell growth involved in cardiac muscle cell development IEA
 biological_processGO:0071260 cellular response to mechanical stimulus IEA
 biological_processGO:1901841 regulation of high voltage-gated calcium channel activity IEA
 biological_processGO:1902261 positive regulation of delayed rectifier potassium channel activity IEA
 biological_processGO:1902514 regulation of calcium ion transmembrane transport via high voltage-gated calcium channel IEA
 biological_processGO:1903595 positive regulation of histamine secretion by mast cell IEA
 biological_processGO:1903766 positive regulation of potassium ion export across plasma membrane IDA
 biological_processGO:1903779 regulation of cardiac conduction TAS
 biological_processGO:1903815 negative regulation of collecting lymphatic vessel constriction IEA
 cellular_componentGO:0005576 extracellular region IEA
 cellular_componentGO:0005615 extracellular space IEA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0031012 extracellular matrix IDA
 cellular_componentGO:0032991 protein-containing complex IDA
 cellular_componentGO:0042629 mast cell granule IEA
 cellular_componentGO:0048471 perinuclear region of cytoplasm IEA
 molecular_functionGO:0005102 signaling receptor binding IPI
 molecular_functionGO:0005179 hormone activity IEA
 molecular_functionGO:0005184 neuropeptide hormone activity IMP
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0051427 hormone receptor binding IPI
 molecular_functionGO:0051428 peptide hormone receptor binding IEA
 molecular_functionGO:0071855 neuropeptide receptor binding IMP


Pathways (from Reactome)
Pathway description
YAP1- and WWTR1 (TAZ)-stimulated gene expression
Physiological factors
Amyloid fiber formation


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0001638 Cardiomyopathy 
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 HP:0001662 Bradycardia 
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 HP:0005110 Atrial fibrillation 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000145244 CORIN / Q9Y5Q5 / corin, serine peptidase  / reaction
 ENSG00000169418 NPR1 / P16066 / natriuretic peptide receptor 1  / complex / reaction
 ENSG00000175206 NPPA / P01160 / natriuretic peptide A  / -






 

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