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 neurohy... See more...

Aliases for OXT Gene

Aliases for OXT Gene

  • Oxytocin/Neurophysin I Prepropeptide 2 3 5
  • OT-NPI 2 3 4
  • Oxytocin, Prepro- (Neurophysin I) 2 3
  • Oxytocin, Prepropeptide 2 3
  • Oxytocin-Neurophysin 1 3 4
  • Neurophysin I 2 3
  • OXT-NPI 2 3
  • OT 3 4
  • Oxytocin-Neurophysin I, Preproprotein 3
  • Oxytocin 2
  • OXT 5

External Ids for OXT Gene

Previous HGNC Symbols for OXT Gene

  • OT

Previous GeneCards Identifiers for OXT Gene

  • GC20P003040
  • GC20P003000
  • GC20P003047
  • GC20P003064

Summaries for OXT Gene

Entrez Gene Summary for OXT Gene

  • 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]

GeneCards Summary for OXT Gene

OXT (Oxytocin/Neurophysin I Prepropeptide) is a Protein Coding gene. Diseases associated with OXT include Endometritis and Chorioamnionitis. Among its related pathways are Signaling by GPCR and Myometrial Relaxation and Contraction Pathways. Gene Ontology (GO) annotations related to this gene include neurohypophyseal hormone activity and oxytocin receptor binding. An important paralog of this gene is AVP.

UniProtKB/Swiss-Prot Summary for OXT Gene

  • 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).

Tocris Summary for OXT Gene

  • Oxytocin receptors (OT) are G-protein-coupled receptors that mediate parturition and lactation. They are closely related to vasopressin receptors. Oxytocin receptors are coupled to Gq/11 proteins and are localized to the myoepithelial cells of the mammary gland.

Gene Wiki entry for OXT Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for OXT Gene

Genomics for OXT Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for OXT Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH20J003073 Promoter/Enhancer 1.2 EPDnew Ensembl ENCODE 250.7 +3.1 3065 1.5 SMAD4 RARA HNF4A NR2F6 NR2F1 HNRNPL RXRA POLR2A EZH2 LOC101929098 OXT lnc-AVP-2 NONHSAG031142.2 AVP
GH20J003066 Enhancer 0.9 Ensembl ENCODE 256.3 -1.5 -1470 2.4 CEBPA CHD4 CEBPB MAX EP300 RXRA TEAD3 FOXP1 JUND BATF OXT piR-53431-385 lnc-AVP-2 MRPS26
GH20J003069 Enhancer 0.7 ENCODE 250.7 +0.3 299 0.2 ATF3 CEBPB REST CTBP1 RXRA SAP130 RARA JUND FOSL2 HNF4A OXT LOC101929098 lnc-AVP-2 NONHSAG031142.2 AVP
GH20J003106 Enhancer 1 Ensembl ENCODE 13.1 +39.2 39230 3 ZMYM3 ZIC2 HOMEZ THAP11 KDM6A SMAD4 ZNF511 SAP130 ETV4 RARA UBOX5 ITPA OXT LZTS3 MRPS26 GNRH2 FASTKD5 DDRGK1 UBOX5-AS1 piR-43107-176
GH20J003101 Enhancer 1.1 Ensembl ENCODE 12.3 +33.8 33845 3.4 ZNF600 CEBPA CHD4 FOXA1 ZFP64 HOMEZ KMT2B THAP11 FOXA2 KDM6A LZTS3 MRPS26 GNRH2 OXT NOP56 UBOX5-AS1 AVP lnc-OXT-2 FASTKD5
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around OXT on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for OXT

Top Transcription factor binding sites by QIAGEN in the OXT gene promoter:
  • c-Myb
  • CREB
  • deltaCREB
  • GR
  • GR-alpha
  • GR-beta
  • POU3F2 (N-Oct-5b)

Genomic Locations for OXT Gene

Latest Assembly
chr20:3,068,871-3,072,517
(GRCh38/hg38)
Size:
3,647 bases
Orientation:
Plus strand

Previous Assembly
chr20:3,052,266-3,053,163
(GRCh37/hg19 by Entrez Gene)
Size:
898 bases
Orientation:
Plus strand

chr20:3,052,266-3,053,163
(GRCh37/hg19 by Ensembl)
Size:
898 bases
Orientation:
Plus strand

Genomic View for OXT Gene

Genes around OXT on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
OXT Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for OXT Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for OXT Gene

Proteins for OXT Gene

  • Protein details for OXT Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P01178-NEU1_HUMAN
    Recommended name:
    Oxytocin-neurophysin 1
    Protein Accession:
    P01178
    Secondary Accessions:
    • Q3MIG0

    Protein attributes for OXT Gene

    Size:
    125 amino acids
    Molecular mass:
    12722 Da
    Quaternary structure:
    • Interacts with oxytocin receptor (Ki=1.5 nM) (PubMed:18174156). Interacts with vasopressin V1aR/AVPR1A (Ki=37 nM), V1bR/AVPR1B (Ki=222 nM) and V2R/AVPR2 receptors (Ki=823 nM) (PubMed:18174156).

neXtProt entry for OXT Gene

Post-translational modifications for OXT Gene

No Post-translational modifications

Other Protein References for OXT Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for OXT Gene

Domains & Families for OXT Gene

Gene Families for OXT Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted secreted proteins

Protein Domains for OXT Gene

InterPro:
Blocks:
  • Neurohypophysial hormone

Suggested Antigen Peptide Sequences for OXT Gene

GenScript: Design optimal peptide antigens:
  • Oxytocin-neurophysin 1 (NEU1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P01178

UniProtKB/Swiss-Prot:

NEU1_HUMAN :
  • Belongs to the vasopressin/oxytocin family.
Family:
  • Belongs to the vasopressin/oxytocin family.
genes like me logo Genes that share domains with OXT: view

Function for OXT Gene

Molecular function for OXT Gene

UniProtKB/Swiss-Prot Function:
Neurophysin 1 specifically binds oxytocin.
UniProtKB/Swiss-Prot Function:
Oxytocin causes contraction of the smooth muscle of the uterus and of the mammary gland. Acts by binding to oxytocin receptor (OXTR) (PubMed:18174156).
GENATLAS Biochemistry:
oxytocin,prepro- (neurophysin 1)

Phenotypes From GWAS Catalog for OXT Gene

Gene Ontology (GO) - Molecular Function for OXT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005179 hormone activity IEA --
GO:0005184 neuropeptide hormone activity IEA,IBA 21873635
GO:0005185 neurohypophyseal hormone activity IEA --
GO:0005515 protein binding IPI 32296183
GO:0031855 oxytocin receptor binding IBA 21873635
genes like me logo Genes that share ontologies with OXT: view
genes like me logo Genes that share phenotypes with OXT: view

Animal Models for OXT Gene

MGI Knock Outs for OXT:
  • Oxt Oxt<tm1Wsy>
  • Oxt Oxt<tm1Ljm>
  • Oxt Oxt<tm1Zuk>
  • Oxt Oxt<tm2Ljm>
  • Oxt Oxt<tm3Ljm>

miRNA for OXT Gene

miRTarBase miRNAs that target OXT

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for OXT

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for OXT Gene

Localization for OXT Gene

Subcellular locations from UniProtKB/Swiss-Prot for OXT Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for OXT gene
Compartment Confidence
extracellular 5
plasma membrane 3
nucleus 3
cytoskeleton 2
mitochondrion 2
endoplasmic reticulum 2
cytosol 2
golgi apparatus 2
peroxisome 1
endosome 1
lysosome 1

Gene Ontology (GO) - Cellular Components for OXT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IEA,IBA 21873635
GO:0005737 cytoplasm IEA --
GO:0030141 secretory granule IEA,IBA 21873635
GO:0043195 terminal bouton IEA --
genes like me logo Genes that share ontologies with OXT: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for OXT Gene

Pathways & Interactions for OXT Gene

genes like me logo Genes that share pathways with OXT: view

SIGNOR curated interactions for OXT Gene

Activates:

Gene Ontology (GO) - Biological Process for OXT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001975 response to amphetamine IEA --
GO:0002027 regulation of heart rate IEA --
GO:0002125 maternal aggressive behavior IEA --
GO:0007165 signal transduction TAS 10218979
GO:0007186 G protein-coupled receptor signaling pathway TAS --
genes like me logo Genes that share ontologies with OXT: view

Drugs & Compounds for OXT Gene

(88) Drugs for OXT Gene - From: DrugBank, DGIdb, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Oxytocin Approved, Vet_approved Pharma Carrier, binder, agonist Involved in uterine contraction and lactation 662
Carbetocin Approved, Investigational Pharma Oxytocin analog 64
L-371,257 Pharma Potent and selective oxytocin receptor antagonist 0
TC OT 39 Pharma Potent non-peptide oxytocin receptor partial agonist; also V1a receptor antagonist 0
WAY 267464 dihydrochloride Pharma Potent non-peptide oxytocin receptor agonist 0

(50) Additional Compounds for OXT Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(5) Tocris Compounds for OXT Gene

Compound Action Cas Number
Carbetocin Oxytocin analog 37025-55-1
L-371,257 Potent and selective oxytocin receptor antagonist 162042-44-6
Oxytocin Involved in uterine contraction and lactation 50-56-6
TC OT 39 Potent non-peptide oxytocin receptor partial agonist; also V1a receptor antagonist 479232-57-0
WAY 267464 dihydrochloride Potent non-peptide oxytocin receptor agonist 1432043-31-6
genes like me logo Genes that share compounds with OXT: view

Transcripts for OXT Gene

mRNA/cDNA for OXT Gene

1 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for OXT

Alternative Splicing Database (ASD) splice patterns (SP) for OXT Gene

No ASD Table

Relevant External Links for OXT Gene

GeneLoc Exon Structure for
OXT

Expression for OXT Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for OXT Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for OXT Gene

This gene is overexpressed in Brain - Hypothalamus (x51.9).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for OXT

SOURCE GeneReport for Unigene cluster for OXT Gene:

Hs.113216

Evidence on tissue expression from TISSUES for OXT Gene

  • Lung(4.3)
  • Nervous system(3.7)
  • Muscle(2.9)
  • Blood(2.9)
  • Heart(2.7)
  • Kidney(2.6)
  • Adrenal gland(2.6)
  • Skin(2.4)
  • Intestine(2.3)
  • Liver(2.3)
  • Stomach(2.2)
  • Urine(2.2)
  • Saliva(2.1)
genes like me logo Genes that share expression patterns with OXT: view

Primer products for research

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for OXT Gene

Orthologs for OXT Gene

This gene was present in the common ancestor of chordates.

Orthologs for OXT Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia OXT 29 30
  • 98.67 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia OXT 29 30
  • 91.2 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia OXT 29 30
  • 89.6 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Oxt 29
  • 87.2 (n)
Mouse
(Mus musculus)
Mammalia Oxt 29 16 30
  • 86.93 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 74 (a)
ManyToMany
-- 30
  • 51 (a)
ManyToMany
Oppossum
(Monodelphis domestica)
Mammalia -- 30
  • 71 (a)
ManyToMany
-- 30
  • 48 (a)
ManyToMany
-- 30
  • 46 (a)
ManyToMany
Chicken
(Gallus gallus)
Aves OXT 29
  • 71.34 (n)
MST 30
  • 66 (a)
OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC100485685 29
  • 66.98 (n)
Zebrafish
(Danio rerio)
Actinopterygii oxt 30
  • 44 (a)
OneToMany
itnp 29
Species where no ortholog for OXT was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for OXT Gene

ENSEMBL:
Gene Tree for OXT (if available)
TreeFam:
Gene Tree for OXT (if available)
Aminode:
Evolutionary constrained regions (ECRs) for OXT: view image
Alliance of Genome Resources:
Additional Orthologs for OXT

Paralogs for OXT Gene

Paralogs for OXT Gene

(1) SIMAP similar genes for OXT Gene using alignment to 1 proteins:

  • NEU1_HUMAN
genes like me logo Genes that share paralogs with OXT: view

Variants for OXT Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for OXT Gene

SNP ID Clinical significance and condition Chr 20 pos Variation AA Info Type
982583 Uncertain Significance: Neurodevelopmental disorder 3,071,650(+) C/CGCACCATGGCCG
NM_000915.4(OXT):c.-3_9dup (p.Pro4_Ser5insThrMetAlaGly)
INITIATIOR_CODON_VARIANT,INFRAME_INSERTION
rs114029030 Benign: not provided 3,072,358(+) T/C
NM_000915.4(OXT):c.323-5T>C
INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for OXT Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for OXT Gene

Variant ID Type Subtype PubMed ID
nsv523746 CNV loss 19592680
nsv585276 CNV gain 21841781
nsv833897 CNV loss 17160897

Variation tolerance for OXT Gene

Residual Variation Intolerance Score: 52.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.13; 2.96% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for OXT Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
OXT
Leiden Open Variation Database (LOVD)
OXT

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for OXT Gene

Disorders for OXT Gene

MalaCards: The human disease database

(127) MalaCards diseases for OXT Gene - From: COP and GCD

Disorder Aliases PubMed IDs
endometritis
chorioamnionitis
placenta accreta
meconium aspiration syndrome
  • meconium aspiration
neonatal jaundice
  • neonatal hyperbilirubinemia
- elite association - COSMIC cancer census association via MalaCards
Search OXT in MalaCards View complete list of genes associated with diseases

Additional Disease Information for OXT

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with OXT: view

No data available for UniProtKB/Swiss-Prot and Genatlas for OXT Gene

Publications for OXT Gene

  1. Polymorphism in the oxytocin promoter region in patients with lactase non-persistence is not related to symptoms. (PMID: 19943975) Truedsson M … Ohlsson B (BMC gastroenterology 2009) 3 22 40
  2. Physiogenomic analysis of statin-treated patients: domain-specific counter effects within the ACACB gene on low-density lipoprotein cholesterol? (PMID: 20602615) Ruaño G … Wu AH (Pharmacogenomics 2010) 3 40
  3. Association study of 182 candidate genes in anorexia nervosa. (PMID: 20468064) Pinheiro AP … Woodside DB (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2010) 3 40
  4. Polymorphisms of candidate genes in Slovak autistic patients. (PMID: 20436377) Kelemenova S … Ostatnikova D (Psychiatric genetics 2010) 3 40
  5. No association between oxytocin or prolactin gene variants and childhood-onset mood disorders. (PMID: 20547007) Strauss JS … International Consortium for Childhood-Onset Mood Disorders (Psychoneuroendocrinology 2010) 3 40

Products for OXT Gene

Sources for OXT Gene