| Name | Avpr1a |
|---|---|
| Description | arginine vasopressin receptor 1A |
| Notes | AVPR1a's exons were screened in 125 independent autistic probands. 2 promoter polymorphisms were typed in 65 autism-affected sibling-pair families. Linkage & linkage disequilibrium were seen in a subset with relatively less severe language impairment. AVPR1a's exons were screened in 125 independent autistic probands. 2 promoter polymorphisms were typed in 65 autism-affected sibling-pair families. Linkage & linkage disequilibrium were seen in a subset with relatively less severe language impairment. Glu54 is critical for arginine vasopressin binding by V1aR. In the wildtype V1aR, Arg46 constrains the inactive conformation of the receptor; on binding AVP this constraint is alleviated, promoting the transition to active V1aR. The protein encoded by this gene acts as receptor for arginine vasopressin. This receptor belongs to the subfamily of G-protein coupled receptors which includes AVPR1B, V2R and OXT receptors. Its activity is mediated by G proteins which stimulate a phosphatidylinositol-calcium second messenger system. The receptor mediates cell contraction and proliferation, platelet aggregation, release of coagulation factor and glycogenolysis. Examination of interaction with beta-arrestin and trafficking patterns by heterodimerization with V2 vasopressin receptor. Residue Phe225, located in transmembrane domain V, directly participates in the binding of the V1a-selective nonpeptide antagonist SR49059. Transmission disequilibrium testing of polymorphism in autism. |
| Owner | Public |
| URN | urn:agi-llid:552 |
| Connectivity | 157 |
| KEGG pathway | Calcium signaling pathway |
|---|---|
| Neuroactive ligand-receptor interaction |
| LocusLink ID | 552 |
|---|---|
| 54140 | |
| 25107 |
| OMIM ID | 600821 |
|---|
| GO ID | 0031894 |
|---|---|
| 0017046 | |
| 0005080 | |
| 0004872 | |
| 0001584 | |
| 0005000 | |
| 0007186 | |
| 0007202 | |
| 0008015 | |
| 0019722 | |
| 0042631 | |
| 0007204 | |
| 0006091 | |
| 0001992 | |
| 0007165 | |
| 0035176 | |
| 0031410 | |
| 0005768 | |
| 0005887 | |
| 0005886 | |
| 0004930 | |
| 0004871 | |
| 0016021 | |
| 0016020 | |
| 0030146 | |
| 0045819 | |
| 0051459 | |
| 0030659 | |
| 0004990 |
| Hugo ID | 895 |
|---|
| Human chromosome position | 12q14-q15 |
|---|
| Unigene ID | Hs.2131 |
|---|---|
| Mm.4351 | |
| Rn.32282 |
| KEGG ID | hsa:552 |
|---|---|
| mmu:54140 | |
| rno:25107 |
| Alias | AVPR1 |
|---|---|
| arginine vasopressin receptor 1A | |
| V1a vasopressin receptor | |
| antidiuretic hormone receptor 1A | |
| SCCL vasopressin subtype 1a receptor | |
| V1-vascular vasopressin receptor AVPR1A | |
| vascular/hepatic-type arginine vasopressin receptor | |
| V1a | |
| AVPR | |
| V1aR | |
| V1a arginine vasopressin receptor | |
| MGC108538 | |
| vasopressin receptor V1a | |
| arginine vasopressin receptor V1a | |
| AVPR V1a | |
| AVPR1A | |
| Vascular/hepatic-type arginine vasopressin receptor | |
| Vasopressin V1a receptor | |
| AVPR I | |
| Vasopressin V1a receptors | |
| Vascular/hepatic-type arginine vasopressin receptors | |
| SCCL vasopressin subtype 1a receptors | |
| V1a vasopressin receptors | |
| V1-A | |
| V-1A | |
| V 1A | |
| V(1)A |
| Organism | Homo sapiens |
|---|---|
| Mus musculus | |
| Rattus norvegicus |
| Mouse chromosome position | 10 D3 |
|---|
| Rat chromosome position | 7q21 |
|---|
| Cell Localization | Plasma membrane |
|---|
| Homologene ID | 568 |
|---|
| Pathway | VasopressinR1 -> STAT signaling |
|---|---|
| VasopressinR1 -> MEF/MYOD/NFATC/MYOG signaling | |
| VasopressinR1 -> CREB/ELK-SRF/AP-1/EGR signaling | |
| vasopressin signaling pathway | |
| vasopressin signaling pathway - first |
| MGI ID | 1859216 |
|---|
| Ariadne Ontology | GPCR-GqCR |
|---|
| RGD ID | 2185 |
|---|
| GO Molecular Function | peptide hormone binding |
|---|---|
| oxytocin receptor activity | |
| vasopressin receptor activity | |
| protein kinase C binding | |
| V1A vasopressin receptor binding | |
| signal transducer activity | |
| receptor activity | |
| G-protein coupled receptor activity | |
| rhodopsin-like receptor activity |
| GO Cellular Component | membrane |
|---|---|
| cytoplasmic vesicle | |
| endosome | |
| cytoplasmic vesicle membrane | |
| plasma membrane | |
| integral to membrane | |
| integral to plasma membrane |
| GO Biological Process | positive regulation of glycogen catabolic process |
|---|---|
| regulation of adrenocorticotropin hormone secretion | |
| elevation of cytosolic calcium ion concentration | |
| diuresis | |
| regulation of systemic arterial blood pressure by vasopressin | |
| activation of phospholipase C activity | |
| signal transduction | |
| cellular response to water deprivation | |
| G-protein coupled receptor protein signaling pathway | |
| calcium-mediated signaling | |
| generation of precursor metabolites and energy | |
| social behavior | |
| blood circulation |
| Group | membrane |
|---|---|
| cytoplasmic vesicle | |
| endosome | |
| cytoplasmic vesicle membrane | |
| plasma membrane | |
| integral to membrane | |
| integral to plasma membrane | |
| peptide hormone binding | |
| oxytocin receptor activity | |
| vasopressin receptor activity | |
| protein kinase C binding | |
| V1A vasopressin receptor binding | |
| signal transducer activity | |
| receptor activity | |
| G-protein coupled receptor activity | |
| rhodopsin-like receptor activity | |
| positive regulation of glycogen catabolic process | |
| regulation of adrenocorticotropin hormone secretion | |
| elevation of cytosolic calcium ion concentration | |
| diuresis | |
| regulation of systemic arterial blood pressure by vasopressin | |
| activation of phospholipase C activity | |
| signal transduction | |
| cellular response to water deprivation | |
| G-protein coupled receptor protein signaling pathway | |
| calcium-mediated signaling | |
| generation of precursor metabolites and energy | |
| social behavior | |
| blood circulation | |
| GPCR-GqCR |
| Swiss-Prot Accession | P37288 |
|---|---|
| Q9UH72 | |
| Q62463 | |
| P30560 | |
| Q5M8D1 |