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FLASH GENE

Symbol

AVPR1A

contributors: mct - updated : 28-09-2010

HGNC name	arginine vasopressin receptor 1A
HGNC id	895

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

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)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Endocrine parathyroid         Nervous brain limbic system hippocampus     Respiratory respiratory tract trachea       Urinary kidney

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