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

Summary

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Official Symbol: OXTprovided by HGNC
Official Full Name: oxytocin/neurophysin I prepropeptideprovided by HGNC
Primary source: HGNC:8528
See related: Ensembl:ENSG00000101405; HPRD:08880; MIM:167050; Vega:OTTHUMG00000031724
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: There are two proteins encoded by this gene, oxytocin and neurophysin I. Oxytocin is 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, Jul 2008]

Genomic context

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Location :: 20p13

Sequence :: Chromosome: 20; NC_000020.10 (3052266..3053162)

See OXT in Epigenomics, MapViewer

Chromosome 20 - NC_000020.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

Bibliography

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GeneRIFs: Gene References Into Functions What's a GeneRIF?

oxytocin and argipressin have been referred to as "social" neuropeptides as they have a highly conserved role as mediators of complex social cognition and interaction in both animals and humans
Title: Oxytocin and vasopressin: social neuropeptides with complex neuromodulatory functions.
The study links defense-motivated competition to oxytocin, a hypothalamic neuropeptide involved in reproduction and social bonding.
Title: Oxytocin motivates non-cooperation in intergroup conflict to protect vulnerable in-group members.
Results show low plasma oxytocin levels in patients with generalized social anxiety disorder compared to controls during a prosocial laboratory task paradigm.
Title: Plasma oxytocin immunoreactive products and response to trust in patients with social anxiety disorder.
Data suggest that nocturnal oxytocin secretion is low in amenorrheic athletes compared with nonathletes and is associated with site-dependent microarchitectural parameters of bone (tibia [weight-bearing]; radius [non-weight-bearing]).
Title: Nocturnal oxytocin secretion is lower in amenorrheic athletes than nonathletes and associated with bone microarchitecture and finite element analysis parameters.
[review] The OT system functions as an important element within a complex, developmentally sensitive biobehavioral system.
Title: Oxytocin and social motivation.
Data suggest that plasma oxytocin is lower in subjects with uncontrolled type 2 diabetes along with psychoticism, somatization, or obsessionality as compared with subjects with controlled type 2 diabetes.
Title: Oxytocin and psychological factors affecting type 2 diabetes mellitus.
first evidence or relationship between plasma oxytocin level and expression of SERT (serotonin transporter) on platelet membranes
Title: A link between oxytocin and serotonin in humans: supporting evidence from peripheral markers.
Oxytocin may be involved in the pathophysiology of anorexia.
Title: Oxytocin secretion is associated with severity of disordered eating psychopathology and insular cortex hypoactivation in anorexia nervosa.
variability within the oxytocin gene appear to explain interindividual differences in dopaminergic responses to stress
Title: Oxytocin gene polymorphisms influence human dopaminergic function in a sex-dependent manner.
Reduced plasma oxytocin and both oxytocin receptor and CD38 risk alleles were related to less parental touch
Title: Sensitive parenting is associated with plasma oxytocin and polymorphisms in the OXTR and CD38 genes.

Submit: New GeneRIF Correction See all (69)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Interactions

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Products	Interactant	Other Gene	Source	Pubs	Description
P01178	Q92731	ESR2	HPRD	PubMed
P01178	P30559	OXTR	HPRD	PubMed
P01178	P48147	PREP	HPRD	PubMed
P01178	Q9BRA2	TXNDC17	HPRD	PubMed
BioGRID:111060	BioGRID:110443	KMT2A	BioGRID	PubMed	Biochemical Activity
BioGRID:111060	BioGRID:124277	TXNDC17	BioGRID	PubMed	Biochemical Activity

Pathways from BioSystems

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Class A/1 (Rhodopsin-like receptors), organism-specific biosystem (from REACTOME)
Class A/1 (Rhodopsin-like receptors), organism-specific biosystemRhodopsin-like receptors (class A/1) are the largest group of GPCRs and are the best studied group from a functional and structural point of view. They show great diversity at the sequence level and ...
G alpha (q) signalling events, organism-specific biosystem (from REACTOME)
G alpha (q) signalling events, organism-specific biosystemThe classic signalling route for G alpha (q) is activation of phospholipase C beta thereby triggering phosphoinositide hydrolysis, calcium mobilization and protein kinase C activation. This provides ...
GPCR downstream signaling, organism-specific biosystem (from REACTOME)
GPCR downstream signaling, organism-specific biosystemG protein-coupled receptors (GPCRs) are classically defined as the receptor, G-protein and downstream effectors, the alpha subunit of the G-protein being the primary signaling molecule. However, it h...
GPCR ligand binding, organism-specific biosystem (from REACTOME)
GPCR ligand binding, organism-specific biosystemThere are more than 800 G-protein coupled receptor (GPCRs) in the human genome, making it the largest receptor superfamily. GPCRs are also the largest class of drug targets, involved in virtually all...
Gastrin-CREB signalling pathway via PKC and MAPK, organism-specific biosystem (from REACTOME)
Gastrin-CREB signalling pathway via PKC and MAPK, organism-specific biosystemGastrin is a hormone whose main function is to stimulate secretion of hydrochloric acid by the gastric mucosa, which results in gastrin formation inhibition. This hormone also acts as a mitogenic fac...
Myometrial Relaxation and Contraction Pathways, organism-specific biosystem (from WikiPathways)
Myometrial Relaxation and Contraction Pathways, organism-specific biosystemThis pathway illustrates signaling networks implicated in uterine muscle contraction at labor and quiescence throughout gestation (pregnancy). The muscle of the uterus, responsible for contractile ac...
Peptide ligand-binding receptors, organism-specific biosystem (from REACTOME)
Peptide ligand-binding receptors, organism-specific biosystemThese receptors, a subset of the Class A/1 (Rhodopsin-like) family, all bind peptide ligands which include the chemokines, opioids and somatostatins.
Signal Transduction, organism-specific biosystem (from REACTOME)
Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
Signaling by GPCR, organism-specific biosystem (from REACTOME)
Signaling by GPCR, organism-specific biosystemG protein-coupled receptors (GPCRs; 7TM receptors; seven transmembrane domain receptors; heptahelical receptors; G protein-linked receptors [GPLR]) are the largest family of transmembrane receptors i...
Vasopressin-like receptors, organism-specific biosystem (from REACTOME)
Vasopressin-like receptors, organism-specific biosystemThe vasopressins are peptide hormones consisting of nine amino acids (nonapeptides). They include arginine vasopressin (AVP; anti-diuretic hormone, ADH) and oxytocin. They are synthesized in the hypo...

General gene information

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Markers

RH64825 (e-PCR)
- UniSTS:68900

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

NoName (e-PCR)
- UniSTS:483281

Homology

Homologs of the OXT gene: The OXT gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, and zebrafish.
Map Viewer (Mouse, Rat)
OrthoDB: The Hierarchical Catalog of Eukaryotic Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
neurohypophyseal hormone activity	IEA Inferred from Electronic Annotation more info
oxytocin receptor binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
drinking behavior	IEA Inferred from Electronic Annotation more info
eating behavior	IEA Inferred from Electronic Annotation more info
elevation of cytosolic calcium ion concentration	IEA Inferred from Electronic Annotation more info
female pregnancy	IEA Inferred from Electronic Annotation more info
grooming behavior	IEA Inferred from Electronic Annotation more info
heart development	IEA Inferred from Electronic Annotation more info
hyperosmotic salinity response	IEA Inferred from Electronic Annotation more info
male mating behavior	IEA Inferred from Electronic Annotation more info
maternal aggressive behavior	IEA Inferred from Electronic Annotation more info
maternal behavior	IEA Inferred from Electronic Annotation more info
memory	IEA Inferred from Electronic Annotation more info
negative regulation of blood pressure	IEA Inferred from Electronic Annotation more info
negative regulation of gastric acid secretion	IEA Inferred from Electronic Annotation more info
negative regulation of urine volume	IEA Inferred from Electronic Annotation more info
positive regulation of blood pressure	IEA Inferred from Electronic Annotation more info
positive regulation of female receptivity	IEA Inferred from Electronic Annotation more info
positive regulation of hindgut contraction	IEA Inferred from Electronic Annotation more info
positive regulation of norepinephrine secretion	IEA Inferred from Electronic Annotation more info
positive regulation of ossification	IEA Inferred from Electronic Annotation more info
positive regulation of penile erection	IEA Inferred from Electronic Annotation more info
positive regulation of prostaglandin secretion	IEA Inferred from Electronic Annotation more info
positive regulation of renal sodium excretion	IEA Inferred from Electronic Annotation more info
positive regulation of synapse assembly	IEA Inferred from Electronic Annotation more info
positive regulation of synaptic transmission	IEA Inferred from Electronic Annotation more info
positive regulation of uterine smooth muscle contraction	IEA Inferred from Electronic Annotation more info
regulation of heart rate	IEA Inferred from Electronic Annotation more info
regulation of sensory perception of pain	IEA Inferred from Electronic Annotation more info
response to activity	IEA Inferred from Electronic Annotation more info
response to amphetamine	IEA Inferred from Electronic Annotation more info
response to cAMP	IEA Inferred from Electronic Annotation more info
response to cocaine	IEA Inferred from Electronic Annotation more info
response to electrical stimulus	IEA Inferred from Electronic Annotation more info
response to estradiol stimulus	IEA Inferred from Electronic Annotation more info
response to ether	IEA Inferred from Electronic Annotation more info
response to glucocorticoid stimulus	IEA Inferred from Electronic Annotation more info
response to peptide hormone stimulus	IEA Inferred from Electronic Annotation more info
response to progesterone stimulus	IEA Inferred from Electronic Annotation more info
response to prostaglandin E stimulus	IEA Inferred from Electronic Annotation more info
response to retinoic acid	IEA Inferred from Electronic Annotation more info
response to sucrose stimulus	IEA Inferred from Electronic Annotation more info
signal transduction	TAS Traceable Author Statement more info	PubMed
sleep	IEA Inferred from Electronic Annotation more info
social behavior	IEA Inferred from Electronic Annotation more info
sperm ejaculation	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
extracellular region	TAS Traceable Author Statement more info
extracellular space	IEA Inferred from Electronic Annotation more info
secretory granule	IEA Inferred from Electronic Annotation more info
terminal bouton	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: oxytocin-neurophysin 1

Names: oxytocin-neurophysin 1; neurophysin I; oxytocin, prepropeptide; oxytocin, prepro- (neurophysin I); 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.

mRNA and Protein(s)

NM_000915.2 → NP_000906.1 oxytocin-neurophysin 1 preproprotein

Status: REVIEWED

Source sequence(s)

M11186, M25650

Consensus CDS

CCDS13044.1

UniProtKB/Swiss-Prot

P01178

Related

ENSP00000217386, OTTHUMP00000030079, ENST00000217386, OTTHUMT00000077698

Conserved Domains (1) summary

pfam00184
Location:39 – 116
Blast Score: 258

Hormone_5; Neurohypophysial hormones, C-terminal Domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p10 Primary Assembly

Genomic

NC_000020.10 Reference GRCh37.p10 Primary Assembly

Range

3052266..3053162

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000152.1 Alternate HuRef

Range

2998607..2999504

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.0

Genomic

NC_018931.1 Alternate CHM1_1.0

Range

2995857..2996754

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	ABBA01053805.1 (17269..18166)	None
genomic	AL160414.18 (22461..23357)	None
genomic	AMYH01011672.1 (241373..242270)	None
genomic	AY082910.1	AAL92860.1
genomic	CH471133.3	EAX10555.1
genomic	CQ753275.1	CAF32560.1
genomic	M11186.1	AAA98806.1
mRNA	BC069144.1	AAH69144.1
mRNA	BC101841.1	AAI01842.1
mRNA	BC101843.1	AAI01844.1
mRNA	M25650.1	AAA59977.1
mRNA	M62611.1	AAA59979.1
mRNA	X03173.1	CAA26936.1