AVPR1A
Arginine Vasopressin Receptor 1A
Gene Information Card
| Symbol | AVPR1A |
|---|---|
| Full Name | Arginine Vasopressin Receptor 1A |
| Gene Type | protein-coding |
| Chromosomal Location | 12q14.2 |
| NCBI Gene ID | 552 ncbi.nlm.nih.gov/gene/552 |
| Ensembl ID | ENSG00000166148 |
| UniProt ID | P37288 |
| OMIM ID | 600821 |
| HGNC ID | 895 |
| Aliases | V1aR, AVPR1, V1a, AVPR V1a |
Description
The AVPR1A gene encodes the arginine vasopressin receptor 1A (V1aR), a G protein-coupled receptor that binds vasopressin. It is involved in social behavior, blood pressure regulation, and stress response. The receptor is expressed in the brain, liver, kidney, and vascular smooth muscle. Variants in AVPR1A have been associated with autism spectrum disorder, aggression, and cardiovascular traits.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Autism spectrum disorder | Altered receptor expression and signaling in brain regions regulating social behavior | ClinVar, OMIM |
| Aggression | Polymorphisms in AVPR1A linked to increased aggression in humans and animal models | OMIM, NCBI |
| Hypertension | V1aR mediates vasoconstriction; variants may influence blood pressure regulation | OMIM, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 5.2 | Low |
| Liver | 8.1 | Medium |
| Kidney | 6.3 | Medium |
| Heart | 3.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 4.5 | Moderate expression |
| SH-SY5Y | 2.1 | Low expression |
| HepG2 | 7.8 | High expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs11174811 | SNP | 0.15 (global) | Associated with altered social behavior |
| rs1042615 | SNP | 0.22 (global) | Linked to autism risk |
| c.123C>T | missense | Rare | Reduced receptor activity |
Mutation functional classification
Loss of Function (LOF)
Missense variants (e.g., c.123C>T) reduce ligand binding or signaling.
Gain of Function (GOF)
Not well documented; some SNPs may increase receptor expression.
Dominant Negative (DN)
Not reported for AVPR1A.
View complete mutation data：
Gene Ontology (GO)
| • G protein-coupled receptor activity | • vasopressin receptor activity |
| • signal transduction | • social behavior |
| • blood pressure regulation |
Pathways
• Vasopressin signaling pathway
• GPCR downstream signaling
• Calcium signaling pathway
Protein Summary
The AVPR1A protein (V1aR) is a 418-amino acid G protein-coupled receptor with seven transmembrane domains. It binds arginine vasopressin and activates phospholipase C, leading to calcium mobilization. It is critical for social bonding, stress response, and vascular tone. The receptor is a target for drug development in autism and hypertension.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AVPR1A Knockout HEK293 Cell Line | EDJ-KQ1596 | Human | 552 | Details Get a Quote |
| AVPR1A Knockout HeLa Cell Line | EDJ-KQ52699 | Human | 552 | Details Get a Quote |
| AVPR1A Knockout A-549 Cell Line | EDJ-KQ61170 | Human | 552 | Details Get a Quote |
| AVPR1A Knockout HCT 116 Cell Line | EDJ-KQ69658 | Human | 552 | Details Get a Quote |
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