OXT oxytocin/neurophysin I prepropeptide [Homo sapiens (human)] - Gene

Summary

Official Symbol: OXTprovided by HGNC
Official Full Name: oxytocin/neurophysin I prepropeptideprovided by HGNC
Primary source: HGNC:HGNC:8528
See related: Ensembl:ENSG00000101405 MIM:167050; AllianceGenome:HGNC:8528
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: OT; OT-NPI; OXT-NPI
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]
Expression: Biased expression in liver (RPKM 1.6), kidney (RPKM 0.7) and 5 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 20p13

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	20	NC_000020.11 (3071620..3072517)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	20	NC_060944.1 (3099764..3103415)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	20	NC_000020.10 (3052266..3053163)

Chromosome 20 - NC_000020.11 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?

Epistatic interactions between oxytocin- and dopamine-related genes and trust.
Title: Epistatic interactions between oxytocin- and dopamine-related genes and trust.
Plasma concentrations of peptide hormones: Unrealistic levels of vasopressin (AVP), oxytocin (OXT), and brain natriuretic peptide (BNP).
Title: Plasma concentrations of peptide hormones: Unrealistic levels of vasopressin (AVP), oxytocin (OXT), and brain natriuretic peptide (BNP).
Epigenetic regulation of the oxytocin system as an indicator of adaptation to over-controlling parenting and psychosocial functioning in adulthood.
Title: Epigenetic regulation of the oxytocin system as an indicator of adaptation to over-controlling parenting and psychosocial functioning in adulthood.
Chronic intranasal oxytocin alleviates cognitive impairment and reverses oxytocin signaling upregulation in MK801-induced mice.
Title: Chronic intranasal oxytocin alleviates cognitive impairment and reverses oxytocin signaling upregulation in MK801-induced mice.
The interplay of oxytocin and sex hormones.
Title: The interplay of oxytocin and sex hormones.
Augmented-reality-based multi-person exercise has more beneficial effects on mood state and oxytocin secretion than standard solitary exercise.
Title: Augmented-reality-based multi-person exercise has more beneficial effects on mood state and oxytocin secretion than standard solitary exercise.
Group differences in OXT methylation between patients with Major Depressive Disorder and healthy controls: A pre-registered replication study.
Title: Group differences in OXT methylation between patients with Major Depressive Disorder and healthy controls: A pre-registered replication study.
The Pivotal Role of Oxytocin's Mechanism of Thermoregulation in Prader-Willi Syndrome, Schaaf-Yang Syndrome, and Autism Spectrum Disorder.
Title: The Pivotal Role of Oxytocin's Mechanism of Thermoregulation in Prader-Willi Syndrome, Schaaf-Yang Syndrome, and Autism Spectrum Disorder.
The impact of childhood trauma exposure on social functioning in schizophrenia: the moderated mediation role of oxytocin and oxytocin receptor gene polymorphisms.
Title: The impact of childhood trauma exposure on social functioning in schizophrenia: the moderated mediation role of oxytocin and oxytocin receptor gene polymorphisms.
Oxytocin: physiology, pharmacology, and clinical application for labor management.
Title: Oxytocin: physiology, pharmacology, and clinical application for labor management.

Submit: New GeneRIF Correction See all GeneRIFs (177)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

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

RH64825 (e-PCR)
- UniSTS:68900

STS-M11186 (e-PCR)
- UniSTS:34705

NoName (e-PCR)
- UniSTS:483281

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables V1A vasopressin receptor binding	IBA Inferred from Biological aspect of Ancestor more info
enables neurohypophyseal hormone activity	IEA Inferred from Electronic Annotation more info
enables neuropeptide hormone activity	IBA Inferred from Biological aspect of Ancestor more info
enables oxytocin receptor binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in drinking behavior	IEA Inferred from Electronic Annotation more info
involved_in eating behavior	IEA Inferred from Electronic Annotation more info
involved_in female pregnancy	IEA Inferred from Electronic Annotation more info
involved_in grooming behavior	IEA Inferred from Electronic Annotation more info
involved_in heart development	IEA Inferred from Electronic Annotation more info
involved_in male mating 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 memory	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of blood pressure	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of urine volume	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of blood pressure	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of cold-induced thermogenesis	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in positive regulation of cytosolic calcium ion concentration	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of female receptivity	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of hindgut contraction	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of norepinephrine secretion	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of ossification	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of penile erection	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of prostaglandin secretion	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of synapse assembly	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of synaptic transmission	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of uterine smooth muscle contraction	IEA Inferred from Electronic Annotation more info
involved_in regulation of heart rate	IEA Inferred from Electronic Annotation more info
involved_in response to activity	IEA Inferred from Electronic Annotation more info
involved_in response to amphetamine	IEA Inferred from Electronic Annotation more info
involved_in response to cAMP	IEA Inferred from Electronic Annotation more info
involved_in response to cocaine	IEA Inferred from Electronic Annotation more info
involved_in response to electrical stimulus	IEA Inferred from Electronic Annotation more info
involved_in response to estradiol	IEA Inferred from Electronic Annotation more info
involved_in response to ether	IEA Inferred from Electronic Annotation more info
involved_in response to food	IEA Inferred from Electronic Annotation more info
involved_in response to glucocorticoid	IEA Inferred from Electronic Annotation more info
involved_in response to peptide hormone	IEA Inferred from Electronic Annotation more info
involved_in response to progesterone	IEA Inferred from Electronic Annotation more info
involved_in response to prostaglandin E	IEA Inferred from Electronic Annotation more info
involved_in response to retinoic acid	IEA Inferred from Electronic Annotation more info
involved_in response to sucrose	IEA Inferred from Electronic Annotation more info
involved_in signal transduction	TAS Traceable Author Statement more info	PubMed
involved_in social behavior	IEA Inferred from Electronic Annotation more info
involved_in sperm ejaculation	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in extracellular region	TAS Traceable Author Statement more info
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in neuronal dense core vesicle	IEA Inferred from Electronic Annotation more info
is_active_in secretory granule	IBA Inferred from Biological aspect of Ancestor more info
located_in terminal bouton	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: oxytocin-neurophysin 1

Names: neurophysin I; oxytocin, prepro- (neurophysin I); oxytocin, prepropeptide; oxytocin-neurophysin I, preproprotein

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.