OXT

Gene Information
 
Gene Symbol
OXT
 
Aliases
OT, OT-NPI, OXT-NPI
 
Entrez Gene ID
 
Gene Name
Oxytocin/neurophysin I prepropeptide
 
Chromosomal Location
20p13
 
HGNC ID
 
Summary
This gene encodes a precursor protein that is processed to produce oxytocin and neurophysin I. Oxytocin is a posterior pituitary hormone which is synthesized as an inactive precursor in the hypothalamus along with its carrier protein neurophysin I. Together with neurophysin, it is packaged into neurosecretory vesicles and transported axonally to the nerve endings in the neurohypophysis, where it is either stored or secreted into the bloodstream. The precursor seems to be activated while it is being transported along the axon to the posterior pituitary. This hormone contracts smooth muscle during parturition and lactation. It is also involved in cognition, tolerance, adaptation and complex sexual and maternal behaviour, as well as in the regulation of water excretion and cardiovascular functions. [provided by RefSeq, Dec 2013]
  e!Ensembl
Gene
Transcript  
Protein

Gene Ontology (GO)

GO ID Ontology Function Evidence Reference
GO:0007165 Biological process Signal transduction TAS 10218979
GO:0120162 Biological process Positive regulation of cold-induced thermogenesis ISS 18071238
GO:0005615 Cellular component Extracellular space IBA 21873635
GO:0030141 Cellular component Secretory granule IBA 21873635
GO:0005184 Molecular function Neuropeptide hormone activity IBA 21873635
Protein Information
 
Protein Name
Oxytocin-neurophysin 1, neurophysin I, oxytocin, prepro- (neurophysin I), oxytocin, prepropeptide, oxytocin-neurophysin I, preproprotein
 
Function
Neurophysin 1 specifically binds oxytocin.; Oxytocin causes contraction of the smooth muscle of the uterus and of the mammary gland. Acts by binding to oxytocin receptor (OXTR) (PubMed:18174156).
 
UniProt
 
Pfam
Pfam Accession Pfam ID
PF00220 Hormone_4
PF00184 Hormone_5
Pathways
 
KEGG
 
Reactome
 

cAMP signaling pathway
Neuroactive ligand-receptor interaction
Oxytocin signaling pathway

 

Vasopressin-like receptors
G alpha (q) signalling events

     

Associated Diseases

Disease groupDisease NameReferences
Blood Disorders
Disseminated Intravascular Coagulation
Cardiovascular Diseases
Hypertensive disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Atonic seizures
Endocrine System Diseases
PCOS
Neoplasms
Anaplastic Carcinoma
References
 
 
PubMed ID Associated gene/s Associated condition Genetic Mutation Diagnostic Criteria Association with PCOS Ethnicity Conclusion
 
 
 
Rotterdam Criteria 
Direct 
80 PCOS infertile patients and 81 Non-PCOS infertile patients 
Finally we suggest other studies for more precise evaluation of oxytocin role as a diagnostic factor in PCOS and also as a prognostic factor for ovarian response and success rates in infertility treatments. To improve PCOS management we suggest studies in future with the aim of finding the effect of different doses of oxytocin in PCOS women to accelerate ovulation induction, weight reduction and to balance their hormonal profile. 

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