AVPR1A arginine vasopressin receptor 1A [Homo sapiens (human)] - Gene

Summary

Official Symbol: AVPR1Aprovided by HGNC
Official Full Name: arginine vasopressin receptor 1Aprovided by HGNC
Primary source: HGNC:HGNC:895
See related: Ensembl:ENSG00000166148 MIM:600821; AllianceGenome:HGNC:895
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: V1aR; AVPR1; AVPR V1a
Summary: 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. [provided by RefSeq, Jul 2008]
Expression: Biased expression in adrenal (RPKM 29.7), endometrium (RPKM 8.7) and 7 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 12q14.2

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (63142759..63151201, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (63121411..63352402, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (63536539..63544981, complement)

Chromosome 12 - NC_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Association between arginine vasopressin receptor 1A (AVPR1A) polymorphism and inequity aversion.
Title: Association between arginine vasopressin receptor 1A (AVPR1A) polymorphism and inequity aversion.
Exploiting Dependence of Castration-Resistant Prostate Cancer on the Arginine Vasopressin Signaling Axis by Repurposing Vaptans.
Title: Exploiting Dependence of Castration-Resistant Prostate Cancer on the Arginine Vasopressin Signaling Axis by Repurposing Vaptans.
Evidence for association of vasopressin receptor 1A promoter region repeat with childhood onset aggression.
Title: Evidence for association of vasopressin receptor 1A promoter region repeat with childhood onset aggression.
Class A G protein-coupled receptors assemble into functional higher-order hetero-oligomers.
Title: Class A G protein-coupled receptors assemble into functional higher-order hetero-oligomers.
Cumulative Risk on Oxytocin-Pathway Genes Impairs Default Mode Network Connectivity in Trauma-Exposed Youth.
Title: Cumulative Risk on Oxytocin-Pathway Genes Impairs Default Mode Network Connectivity in Trauma-Exposed Youth.
Neural mechanisms of AVPR1A RS3-RS1 haplotypes that impact verbal learning and memory.
Title: Neural mechanisms of AVPR1A RS3-RS1 haplotypes that impact verbal learning and memory.
No association between genetic variants in MAOA, OXTR, and AVPR1a and cooperative strategies.
Title: No association between genetic variants in MAOA, OXTR, and AVPR1a and cooperative strategies.
Peripheral Blood Mononuclear Cell Oxytocin and Vasopressin Receptor Expression Positively Correlates with Social and Behavioral Function in Children with Autism.
Title: Peripheral Blood Mononuclear Cell Oxytocin and Vasopressin Receptor Expression Positively Correlates with Social and Behavioral Function in Children with Autism.
Depletion of AVPR1A in castration-resistant prostate cancer cells resulted in decreased cell proliferation and reduced cyclin A.
Title: Arginine vasopressin receptor 1a is a therapeutic target for castration-resistant prostate cancer.
The single nucleotide polymorphisms rs11174811 and rs3803107 in the AVPR1A gene are associated with an increased risk of hypertension in the Chinese Han population. This may be related to the effect of these variants on the regulation of AVPR1A expression by miRNAs.
Title: Correlation between miRNA target site polymorphisms in the 3' UTR of AVPR1A and the risk of hypertension in the Chinese Han population.

Submit: New GeneRIF Correction See all GeneRIFs (78)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

PMC156606P1 (e-PCR)
- UniSTS:271408

RH48734 (e-PCR)
- UniSTS:12664

D12S1901 (e-PCR)
- UniSTS:33995

G59776 (e-PCR)
- UniSTS:136929

NoName (e-PCR)
- UniSTS:482019

STS-L25615 (e-PCR)
- UniSTS:54781

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables V1A vasopressin receptor binding	IEA Inferred from Electronic Annotation more info
enables peptide hormone binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase C binding	TAS Traceable Author Statement more info	PubMed
enables vasopressin receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables vasopressin receptor activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in G protein-coupled receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in G protein-coupled receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in blood circulation	TAS Traceable Author Statement more info	PubMed
involved_in calcium-mediated signaling	IEA Inferred from Electronic Annotation more info
involved_in cellular response to hormone stimulus	IBA Inferred from Biological aspect of Ancestor more info
involved_in cellular response to water deprivation	IEA Inferred from Electronic Annotation more info
involved_in generation of precursor metabolites and energy	TAS Traceable Author Statement more info	PubMed
involved_in grooming behavior	IEA Inferred from Electronic Annotation more info
involved_in maternal aggressive behavior	IEA Inferred from Electronic Annotation more info
involved_in maternal behavior	IEA Inferred from Electronic Annotation more info
involved_in myotube differentiation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of female receptivity	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of transmission of nerve impulse	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of cell growth	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of cell population proliferation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of cellular pH reduction	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of cytosolic calcium ion concentration	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of glutamate secretion	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of heart rate	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of prostaglandin biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of systemic arterial blood pressure	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of vasoconstriction	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of systemic arterial blood pressure by vasopressin	IBA Inferred from Biological aspect of Ancestor more info
involved_in response to corticosterone	IEA Inferred from Electronic Annotation more info
involved_in social behavior	IEA Inferred from Electronic Annotation more info
involved_in sperm ejaculation	IEA Inferred from Electronic Annotation more info
involved_in telencephalon development	IEA Inferred from Electronic Annotation more info
involved_in transport across blood-brain barrier	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in endocytic vesicle	IDA Inferred from Direct Assay more info	PubMed
located_in endosome	IDA Inferred from Direct Assay more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: vasopressin V1a receptor

Names: SCCL vasopressin subtype 1a receptor; V1-vascular vasopressin receptor AVPR1A; V1a vasopressin receptor; antidiuretic hormone receptor 1A; vascular/hepatic-type arginine vasopressin receptor

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_000706.5 → NP_000697.1 vasopressin V1a receptor

See identical proteins and their annotated locations for NP_000697.1

Status: REVIEWED

Source sequence(s)

AA533159, AC135584, AF101725

Consensus CDS

CCDS8965.1

UniProtKB/Swiss-Prot

P37288

UniProtKB/TrEMBL

Q3S2J4, X5D2B0

Related

ENSP00000299178.3, ENST00000299178.4

Conserved Domains (2) summary

pfam08983
Location:372 → 418

DUF1856; Domain of unknown function (DUF1856)

cd15385
Location:52 → 359

7tmA_V1aR; vasopressin receptor subtype 1A, member of the class A family of seven-transmembrane G protein-coupled receptors