Reactome | Defective AVP mutants do not bind AVPR1A,B

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Defective AVP mutants do not bind AVPR1A,B Show undefined attributes

authored	[InstanceEdit:5621442] Jassal, Bijay, 2014-08-29
category	transition
compartment	[Compartment:984] extracellular region [Compartment:876] plasma membrane
created	[InstanceEdit:5621442] Jassal, Bijay, 2014-08-29
dbId	5621425
disease	[Disease:5623603] neurohypophyseal diabetes insipidus
displayName	Defective AVP mutants do not bind AVPR1A,B
edited	[InstanceEdit:5621442] Jassal, Bijay, 2014-08-29
entityFunctionalStatus	[EntityFunctionalStatus:5621408] loss_of_function of AVP mutants [extracellular region]
eventOf	[Pathway:R-HSA-5619099] Defective AVP does not bind AVPR1A,B and causes neurohypophyseal diabetes insipidus (NDI) - Homo sapiens
input	[DefinedSet:R-HSA-5621383] AVP mutants [extracellular region] [DefinedSet:R-HSA-388458] AVPR1A,B [plasma membrane]
isChimeric	false
isInDisease	true
isInferred	false
literatureReference	[LiteratureReference:5621386] Nephrogenic diabetes insipidus: essential insights into the molecular background and potential therapies for treatment [LiteratureReference:5621403] Possible involvement of inefficient cleavage of preprovasopressin by signal peptidase as a cause for familial central diabetes insipidus [LiteratureReference:5621388] Glu-47, which forms a salt bridge between neurophysin-II and arginine vasopressin, is deleted in patients with familial central diabetes insipidus [LiteratureReference:5621399] Two novel mutations in the coding region for neurophysin-II associated with familial central diabetes insipidus [LiteratureReference:5621423] Identification of mutations of the arginine vasopressin-neurophysin II gene in two kindreds with familial central diabetes insipidus [LiteratureReference:5621467] Autosomal recessive familial neurohypophyseal diabetes insipidus with continued secretion of mutant weakly active vasopressin [LiteratureReference:5621445] Autosomal dominant neurohypophyseal diabetes insipidus due to substitution of histidine for tyrosine(2) in the vasopressin moiety of the hormone precursor [LiteratureReference:5621453] Six novel mutations in the arginine vasopressin gene in 15 kindreds with autosomal dominant familial neurohypophyseal diabetes insipidus give further insight into the pathogenesis
modified	[InstanceEdit:9830342] Matthews, Lisa, 2023-03-08
name	Defective AVP mutants do not bind AVPR1A,B
normalReaction	[Reaction:R-HSA-388468] AVP(20-28) binds AVPR1A,B
releaseDate	2015-09-22
reviewStatus	[ReviewStatus:9821382] five stars
reviewed	[InstanceEdit:6789776] Broer, Stefan, 2015-08-04
schemaClass	FailedReaction
species	[Species:48887] Homo sapiens
stId	R-HSA-5621425
summation	[Summation:5621382] Arginine vasopressin (AVP(20-28)) is a 9 amino-acid long sig...

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[Pathway:R-HSA-5619099] Defective AVP does not bind AVPR1A,B and causes neurohypophyseal diabetes insipidus (NDI)

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