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GeneE
3 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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AVPI1
arginine vasopressin induced 1
Chromosome 10 Β· 10q24.2
NCBI Gene: 60370Ensembl: ENSG00000119986.8HGNC: HGNC:30898UniProt: Q5T686
21PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingpositive regulation of MAPK cascadeneurodegenerative diseasealcohol drinkingalcohol dependencedeafness
✦AI Summary

AVPI1 (arginine vasopressin induced 1) is a vasopressin-responsive gene with putative roles in cellular signaling and epithelial ion transport regulation. The gene encodes a protein that may facilitate MAP kinase cascade activation and negatively regulate epithelial sodium channel (ENaC) function, thereby modulating sodium transport in collecting duct and airway epithelial cells 1. AVPI1 expression is stimulated through cAMP-dependent, PKA-mediated transcriptional mechanisms downstream of vasopressin signaling 1. Beyond its classical role in adult epithelial physiology, AVPI1 exhibits unexpected expression in early human development; it is uniquely overexpressed approximately 22-fold higher in 8-cell embryos compared to embryonic stem cells, suggesting novel developmental functions distinct from its vasopressin-responsive role 2. In disease contexts, AVPI1 methylation patterns correlate with melanoma invasiveness, with differentially methylated regions associated with transcriptional changes between invasive and noninvasive melanoma cell lines, implicating epigenetic dysregulation of AVPI1 in cancer progression 3. The clinical significance remains incompletely characterized, though the gene's involvement in both epithelial ion homeostasis and cancer-associated methylation changes suggests potential therapeutic relevance in both renal/respiratory pathology and oncology.

Sources cited
1
AVPI1 is a vasopressin-induced gene that inhibits Na+ transport via epithelial sodium channel regulation, with expression controlled by cAMP-PKA-CREB signaling pathway
PMID: 15140762
2
AVPI1 is uniquely overexpressed ~22-fold higher in 8-cell human embryos compared to embryonic stem cells, suggesting novel early developmental roles
PMID: 38133877
3
AVPI1 DNA methylation patterns correlate with melanoma invasiveness, with differentially methylated fragments associated with transcriptional differences between invasive and noninvasive phenotypes
PMID: 33781093
⚠Limited data available β€” This gene has 3 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜20
neurodegenerative diseaseOpen Targets
0.27Weak
alcohol drinkingOpen Targets
0.20Weak
alcohol dependenceOpen Targets
0.08Suggestive
deafnessOpen Targets
0.05Suggestive
autosomal recessive nonsyndromic hearing loss 9Open Targets
0.04Suggestive
autosomal dominant nonsyndromic hearing lossOpen Targets
0.04Suggestive
hearing loss, autosomal recessiveOpen Targets
0.03Suggestive
psoriatic arthritisOpen Targets
0.03Suggestive
ulcerative colitisOpen Targets
0.02Suggestive
adrenal cortex carcinomaOpen Targets
0.01Suggestive
neoplasmOpen Targets
0.01Suggestive
IGA glomerulonephritisOpen Targets
0.01Suggestive
hepatocellular carcinomaOpen Targets
0.01Suggestive
Alzheimer diseaseOpen Targets
0.00Suggestive
lung carcinomaOpen Targets
0.00Suggestive
lung adenocarcinomaOpen Targets
0.00Suggestive
metastatic melanomaOpen Targets
0.00Suggestive
liver hemangiomaOpen Targets
0.00Suggestive
Neoplasm of the lungOpen Targets
0.00Suggestive
non-small cell lung carcinomaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
GPR101Shared pathway50%GPR37L1Shared pathway25%PELI2Shared pathway25%GFRALShared pathway25%GPR37Shared pathway20%DHX33Shared pathway20%
Tissue Expression6 tissues
Ovary
100%
Liver
82%
Lung
44%
Heart
30%
Brain
20%
Bone Marrow
16%
Gene Interaction Network
Click a node to explore
AVPI1GPR101GPR37L1PELI2GFRALGPR37DHX33
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q5T686
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.17LoF Tolerant
pLIβ“˜
0.01Tolerant
Observed/Expected LoF0.67 [0.40–1.17]
RankingsWhere AVPI1 stands among ~20K protein-coding genes
  • #13,834of 20,598
    Most Researched21
  • #12,257of 17,882
    Most Constrained (LOEUF)1.17
Genes detectedAVPI1
Sources retrieved3 papers
Response timeβ€”
πŸ“„ Sources
3
1
Genome-wide DNA methylation and RNA expression differences correlate with invasiveness in melanoma cell lines.
PMID: 33781093
Epigenomics Β· 2021
1.00
2
Microarray evidence that 8-cell human embryos express some hormone family members including oxytocin.
PMID: 38133877
J Assist Reprod Genet Β· 2024
0.67
3
AVP-induced VIT32 gene expression in collecting duct cells occurs via trans-activation of a CRE in the 5'-flanking region of the VIT32 gene.
PMID: 15140762
Am J Physiol Renal Physiol Β· 2004
0.33