ENSG00000101200


Homo sapiens

Features
Gene ID: ENSG00000101200
  
Biological name :AVP
  
Synonyms : arginine vasopressin / AVP / P01185
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 20
Strand: -1
Band: p13
Gene start: 3082556
Gene end: 3084724
  
Corresponding Affymetrix probe sets: 207848_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000369647
NCBI entrez gene - 551     See in Manteia.
OMIM - 192340
RefSeq - XM_011529267
RefSeq - NM_000490
RefSeq Peptide - NP_000481
swissprot - P01185
swissprot - X5DQP6
Ensembl - ENSG00000101200
  
Related genetic diseases (OMIM): 125700 - Diabetes insipidus, neurohypophyseal, 125700
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
 avpENSDARG00000058567Danio rerio
 oxtENSDARG00000042845Danio rerio
 ENSGALG00000019026Gallus gallus
 AvpENSMUSG00000037727Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
OXT / P01178 / oxytocin/neurophysin I prepropeptideENSG0000010140552


Protein motifs (from Interpro)
Interpro ID Name
 IPR000981  Neurohypophysial hormone
 IPR022423  Neurohypophysial hormone, conserved site
 IPR036387  Neurohypophysial hormone domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0002125 maternal aggressive behavior IEA
 biological_processGO:0003084 positive regulation of systemic arterial blood pressure IEA
 biological_processGO:0003091 renal water homeostasis TAS
 biological_processGO:0006091 generation of precursor metabolites and energy TAS
 biological_processGO:0006833 water transport TAS
 biological_processGO:0006915 apoptotic process IEA
 biological_processGO:0007165 signal transduction TAS
 biological_processGO:0007186 G-protein coupled receptor signaling pathway TAS
 biological_processGO:0007204 positive regulation of cytosolic calcium ion concentration IEA
 biological_processGO:0007267 cell-cell signaling TAS
 biological_processGO:0007621 negative regulation of female receptivity IEA
 biological_processGO:0007625 grooming behavior IEA
 biological_processGO:0007626 locomotory behavior IEA
 biological_processGO:0008284 positive regulation of cell proliferation IEA
 biological_processGO:0010469 regulation of signaling receptor activity IEA
 biological_processGO:0010628 positive regulation of gene expression IDA
 biological_processGO:0014049 positive regulation of glutamate secretion IEA
 biological_processGO:0014070 response to organic cyclic compound IEA
 biological_processGO:0030307 positive regulation of cell growth IEA
 biological_processGO:0030819 obsolete positive regulation of cAMP biosynthetic process IEA
 biological_processGO:0031394 positive regulation of prostaglandin biosynthetic process IEA
 biological_processGO:0032849 positive regulation of cellular pH reduction IEA
 biological_processGO:0033138 positive regulation of peptidyl-serine phosphorylation IDA
 biological_processGO:0033574 response to testosterone IEA
 biological_processGO:0035094 response to nicotine IEA
 biological_processGO:0035176 social behavior IEA
 biological_processGO:0035813 regulation of renal sodium excretion IEA
 biological_processGO:0042310 vasoconstriction IEA
 biological_processGO:0042538 hyperosmotic salinity response IEA
 biological_processGO:0042711 maternal behavior IEA
 biological_processGO:0043066 negative regulation of apoptotic process IDA
 biological_processGO:0043084 penile erection IEA
 biological_processGO:0043154 negative regulation of cysteine-type endopeptidase activity involved in apoptotic process IDA
 biological_processGO:0043252 sodium-independent organic anion transport TAS
 biological_processGO:0045471 response to ethanol IEA
 biological_processGO:0045907 positive regulation of vasoconstriction IEA
 biological_processGO:0050880 regulation of blood vessel size IEA
 biological_processGO:0050891 multicellular organismal water homeostasis IEA
 biological_processGO:0051970 negative regulation of transmission of nerve impulse IEA
 biological_processGO:0061024 membrane organization TAS
 biological_processGO:0070371 ERK1 and ERK2 cascade IDA
 biological_processGO:0070528 protein kinase C signaling IDA
 biological_processGO:0090201 negative regulation of release of cytochrome c from mitochondria IDA
 cellular_componentGO:0005576 extracellular region TAS
 cellular_componentGO:0005615 extracellular space IEA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0030141 secretory granule IEA
 cellular_componentGO:0030425 dendrite IEA
 cellular_componentGO:0030665 clathrin-coated vesicle membrane TAS
 molecular_functionGO:0004672 protein kinase activity IDA
 molecular_functionGO:0004871 obsolete signal transducer activity IDA
 molecular_functionGO:0005102 signaling receptor binding TAS
 molecular_functionGO:0005179 hormone activity IEA
 molecular_functionGO:0005184 neuropeptide hormone activity IEA
 molecular_functionGO:0005185 neurohypophyseal hormone activity IEA
 molecular_functionGO:0031894 V1A vasopressin receptor binding IPI
 molecular_functionGO:0031895 V1B vasopressin receptor binding IEA
 molecular_functionGO:0043027 cysteine-type endopeptidase inhibitor activity involved in apoptotic process IDA


Pathways (from Reactome)
Pathway description
BMAL1:CLOCK,NPAS2 activates circadian gene expression
Vasopressin-like receptors
G alpha (q) signalling events
G alpha (s) signalling events
Vasopressin regulates renal water homeostasis via Aquaporins
Defective AVP causes neurohypophyseal diabetes insipidus (NDI)
Transport of organic anions
Cargo recognition for clathrin-mediated endocytosis
Clathrin-mediated endocytosis
Defective AVP causes neurohypophyseal diabetes insipidus (NDI)


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:0000316 Hypertelorism 
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 HP:0000343 Long philtrum 
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 HP:0000445 Broad nose 
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 HP:0000737 Irritability 
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 HP:0000863 Central diabetes insipidus "A form of diabetes insipidus related to a failure of vasopressin (AVP) release from the hypothalamus." [HPO:curators]
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 HP:0000873 Diabetes insipidus "A state of excessive water intake and hypotonic (dilute) polyuria. Diabetes insipidus may be due to failure of vasopressin (AVP) release (central or neurogenic diabetes insipidus) or to a failure of the kidney to respond to AVP (nephrogenic diabetes insipidus)." [HPO:curators]
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 HP:0000938 Osteopenia "Osteopenia refers to a reduction in bone mineral density (BMD) below normal peak BMD but not low enough to be classified as osteoporosis. According to the WHO, osteopenia is characterized by a value of BMD more than 1 standard deviation below the young adult mean, but less than 2 standard deviations below this value." [HPO:curators]
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 HP:0001254 Lethargy 
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 HP:0001510 Growth retardation 
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 HP:0001824 Weight loss 
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 HP:0001939 Metabolism abnormality 
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 HP:0001945 Fever 
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 HP:0001959 Polydipsia 
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 HP:0002013 Vomiting 
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 HP:0002014 Diarrhea 
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 HP:0002171 Gliosis 
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 HP:0003196 Nasal hypoplasia "Underdevelopment of the `nose` (FMA:46472)." [HPO:probinson]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000087460 GNAS / O95467 / Q5JWF2 / P63092 / P84996 / GNAS complex locus  / complex / reaction
 ENSG00000173020 GRK2 / P25098 / G protein-coupled receptor kinase 2  / reaction
 ENSG00000166148 AVPR1A / P37288 / arginine vasopressin receptor 1A  / complex / reaction
 ENSG00000126895 AVPR2 / P30518 / arginine vasopressin receptor 2  / complex / reaction
 ENSG00000176463 Q9UIG8 / SLCO3A1 / solute carrier organic anion transporter family member 3A1  / reaction
 ENSG00000100077 GRK3 / P35626 / G protein-coupled receptor kinase 3  / reaction
 ENSG00000198049 AVPR1B / P47901 / arginine vasopressin receptor 1B  / reaction / complex
 ENSG00000141480 ARRB2 / P32121 / arrestin beta 2  / complex / reaction
 ENSG00000137486 ARRB1 / P49407 / arrestin beta 1  / reaction / complex






 

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