Gene Gene information from NCBI Gene database.
Entrez ID 552
Gene name Arginine vasopressin receptor 1A
Gene symbol AVPR1A
Synonyms (NCBI Gene)
AVPR V1aAVPR1V1aR
Chromosome 12
Chromosome location 12q14.2
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 phosph
miRNA miRNA information provided by mirtarbase database.
132
miRTarBase ID miRNA Experiments Reference
MIRT620542 hsa-miR-1276 HITS-CLIP 23824327
MIRT620541 hsa-miR-508-5p HITS-CLIP 23824327
MIRT620540 hsa-miR-1273g-3p HITS-CLIP 23824327
MIRT620539 hsa-miR-6849-3p HITS-CLIP 23824327
MIRT620538 hsa-miR-221-5p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
55
GO ID Ontology Definition Evidence Reference
GO:0001992 Process Regulation of systemic arterial blood pressure by vasopressin IBA
GO:0001992 Process Regulation of systemic arterial blood pressure by vasopressin IEA
GO:0002125 Process Maternal aggressive behavior IEA
GO:0003084 Process Positive regulation of systemic arterial blood pressure IEA
GO:0004930 Function G protein-coupled receptor activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
600821 895 ENSG00000166148
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P37288
Protein name Vasopressin V1a receptor (V1aR) (AVPR V1a) (Antidiuretic hormone receptor 1a) (Vascular/hepatic-type arginine vasopressin receptor)
Protein function Receptor for arginine vasopressin. The activity of this receptor is mediated by G proteins which activate a phosphatidyl-inositol-calcium second messenger system. Has been involved in social behaviors, including affiliation and attachment. {ECO:
PDB 1YTV
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00001 7tm_1 68 348 7 transmembrane receptor (rhodopsin family) Family
PF08983 DUF1856 372 418 Domain of unknown function (DUF1856) Domain
Sequence
Sequence length 418
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Calcium signaling pathway
Phospholipase D signaling pathway
Neuroactive ligand-receptor interaction
Hormone signaling
Vascular smooth muscle contraction
  Vasopressin-like receptors
G alpha (q) signalling events
Defective AVP does not bind AVPR1A,B and causes neurohypophyseal diabetes insipidus (NDI)
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
6
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
AUTISM SPECTRUM DISORDER CTD, ClinGen
CTD, ClinGen
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AVPR1A-related disorder Uncertain significance; Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Anemia Sickle Cell Sickle cell anemia Pubtator 31710639 Associate
★☆☆☆☆
Found in Text Mining only
Anemia, Sickle Cell Anemia BEFREE 31710639
★☆☆☆☆
Found in Text Mining only
Antisocial Personality Disorder Antisocial Personality Disorder BEFREE 28769746
★☆☆☆☆
Found in Text Mining only
Anxiety Anxiety Disorder BEFREE 29958961
★☆☆☆☆
Found in Text Mining only
Anxiety Disorders Anxiety Disorder BEFREE 24924430, 29958961
★☆☆☆☆
Found in Text Mining only
Autism Spectrum Disorder Autism Pubtator 27027249, 28808521, 29309996 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Autism Spectrum Disorders Autism Spectrum Disorder BEFREE 16520824, 19195791, 20452058, 20546835, 27027249, 27711048, 29309996, 29503216, 30514927, 31043521
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Autism Spectrum Disorders Autism Spectrum Disorder CTD_human_DG 20546835
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Autistic Disorder Autism BEFREE 12082568, 15098001, 16520824, 18490926, 18655900, 22764113, 24924430, 25707602, 27874273
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Autistic Disorder Autism LHGDN 12082568, 16520824
★★☆☆☆
Found in Text Mining + Unknown/Other Associations