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FLASH GENE
Symbol AVPR1A contributors: mct - updated : 28-09-2010
HGNC name arginine vasopressin receptor 1A
HGNC id 895
DNA
TYPE functioning gene
STRUCTURE 7.58 kb     2 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked   status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
2 - 4154 47.1 421 - PMID: 8838314
EXPRESSION
Rna function
  • mRNA expressed in the liver and to a lesser degree in the heart, the kidney, and skeletal muscle
    • Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrineparathyroid    
    Nervousbrainlimbic systemhippocampus  
    Respiratoryrespiratory tracttrachea   
    Urinarykidney    
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    		seven transmembrane segments (7TM) receptor
    HOMOLOGY
    Homologene
    FAMILY G protein coupled receptor superfamily
    CATEGORY receptor
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endosome
    intracellular,cytoplasm,cytosolic,vesicle
    basic FUNCTION
  • arginine vasopressin receptor, mediating cell contraction and proliferation, platelet aggregation, release of coagulation factor and glycogenolysis
  • the counteractivity of AVPR2 and AVPR1A could be required to maintain minimum urine volume in the dehydrated state
  • role in contributing to the prepulse inhibition response to auditory stimuli
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling hormonal
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
  • to autism
  • variation in pair-bonding behavior
  • to autism spectrum disorder
  • to diabetes in subjects with a high fat intake or who are overweight
  • to hypertension in nonobese individuals
    • Variant & Polymorphism SNP , repeat
  • association between a polymorphic repeat sequence in the 5' flanking region and proneness for monogamous behavior in males
  • rs7294536 and rs10877969, in the promoter region of AVPR1A significant associated to autism spectrum disorder
  • rs1042615 T allele is associated with diabetes in subjects with a high fat intake or who are overweight
  • significant association between one of the genotypes and alleles at SNP -6951 and hypertension in a subsample of nonobese individuals
    • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • male arginine vasopressin 1a receptor knockout mice (V1aR(-/-)) display a phenotype of low triglycerides and high glucose concentrations and high-fat-diet-induced obesity and diabetes