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Aliases for OXT Gene

Aliases for OXT Gene

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

External Ids for OXT Gene

Previous HGNC Symbols for OXT Gene

  • OT

Previous GeneCards Identifiers for OXT Gene

  • GC20P003040
  • GC20P003000
  • GC20P003047

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 Peptide ligand-binding receptors and Signaling by GPCR. 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 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

Additional gene information for OXT Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for OXT Gene

Genomics for OXT Gene

GeneHancer (GH) Regulatory Elements for OXT Gene

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
GH20I003071 Promoter 0.9 EPDnew 550.8 +2.7 2730 0.1 SKI RXRA NR2F1 SMAD4 NR2F6 HNF4A RARA EZH2 OXT LOC101929098
GH20I003069 Enhancer 0.7 ENCODE 550.8 +0.3 299 0.2 ESRRA SAP130 JUN MAX NFXL1 RARA FOSL1 CTBP1 HNF4G NR2F6 OXT LOC101929098
GH20I003067 Enhancer 0.5 ENCODE 555.3 -1.0 -1041 0.2 GTF3C2 RXRA MAX HNF4G HNF4A OXT GC20P003063
GH20I003106 Enhancer 1 Ensembl ENCODE 12.2 +38.2 38223 0.9 ELF3 MLX ARID4B DMAP1 THRB ZNF48 RARA CREM THAP11 MIXL1 UBOX5-AS1 LZTS3 MRPS26 GNRH2 OXT UBOX5 ITPA GC20P003124
GH20I003172 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE 3.7 +105.4 105401 3.3 PKNOX1 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 SLC30A9 LZTS3 GC20P003173 ITPA DDRGK1 ZNF343 UBOX5-AS1 SNRPB ENSG00000229539 AVP OXT
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around OXT on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the OXT gene promoter:

Genomic Locations for OXT Gene

Genomic Locations for OXT Gene
chr20:3,068,871-3,072,517
(GRCh38/hg38)
Size:
3,647 bases
Orientation:
Plus strand
chr20:3,052,266-3,053,163
(GRCh37/hg19)

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

Suggested Antigen Peptide Sequences for OXT Gene

GenScript: Design optimal peptide antigens:

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

GENATLAS Biochemistry:
oxytocin,prepro- (neurophysin 1)
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).

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 --
GO:0005185 neurohypophyseal hormone activity IEA --
GO:0031855 oxytocin receptor binding IEA --
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:

miRNA for OXT Gene

miRTarBase miRNAs that target OXT

Clone Products

  • Addgene plasmids for OXT

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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
nucleus 3
plasma membrane 2
cytoskeleton 2
mitochondrion 2
endoplasmic reticulum 2
cytosol 2
lysosome 1
golgi apparatus 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 --
GO:0005737 cytoplasm IEA --
GO:0030141 secretory granule IEA --
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

(87) 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 Full agonist, Agonist, Target, binder, agonist Involved in uterine contraction and lactation 474
Carbetocin Approved, Investigational Pharma Oxytocin analog 37
L-371,257 Pharma Antagonist Potent and selective oxytocin receptor antagonist 0
WAY 267464 dihydrochloride Pharma Potent non-peptide oxytocin receptor agonist 0

(51) 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

(2) REFSEQ mRNAs :
(6) Additional mRNA sequences :
(7) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for OXT Gene

Oxytocin/neurophysin I prepropeptide:
Representative Sequences:

Clone Products

  • Addgene plasmids 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
ECgene alternative splicing isoforms for
OXT

Expression for OXT Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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).

NURSA nuclear receptor signaling pathways regulating expression of OXT Gene:

OXT

SOURCE GeneReport for Unigene cluster for OXT Gene:

Hs.113216

Evidence on tissue expression from TISSUES for OXT Gene

  • Lung(4.2)
  • Nervous system(3.9)
  • Blood(3)
  • Muscle(3)
  • Heart(2.6)
  • Adrenal gland(2.4)
  • Kidney(2.4)
  • Intestine(2)
genes like me logo Genes that share expression patterns with OXT: view

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 33 34
  • 98.67 (n)
dog
(Canis familiaris)
Mammalia OXT 33 34
  • 91.2 (n)
cow
(Bos Taurus)
Mammalia OXT 33 34
  • 89.6 (n)
rat
(Rattus norvegicus)
Mammalia Oxt 33
  • 87.2 (n)
mouse
(Mus musculus)
Mammalia Oxt 33 16 34
  • 86.93 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 74 (a)
ManyToMany
-- 34
  • 51 (a)
ManyToMany
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 71 (a)
ManyToMany
-- 34
  • 48 (a)
ManyToMany
-- 34
  • 46 (a)
ManyToMany
chicken
(Gallus gallus)
Aves OXT 33
  • 71.34 (n)
MST 34
  • 66 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100485685 33
  • 66.98 (n)
zebrafish
(Danio rerio)
Actinopterygii oxt 34
  • 44 (a)
OneToMany
itnp 33
Species where no ortholog for OXT was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 squirt (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)

Paralogs for OXT Gene

Paralogs for OXT Gene

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

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

Variants for OXT Gene

Sequence variations from dbSNP and Humsavar for OXT Gene

SNP ID Clin Chr 20 pos Variation AA Info Type
rs1000979810 -- 3,071,237(+) G/A genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000980529 -- 3,070,599(+) G/C genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1001198740 -- 3,068,326(+) G/A upstream_transcript_variant
rs1001433579 -- 3,071,436(+) C/A genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1001816739 -- 3,068,065(+) C/G upstream_transcript_variant

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

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

Disorders for OXT Gene

MalaCards: The human disease database

(52) MalaCards diseases for OXT Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
endometritis
chorioamnionitis
persistent genital arousal disorder
  • persistent genital arousal
epignathus
  • oropharyngeal teratoma
inhibited male orgasm
  • male orgasmic disorder
- 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

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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. 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 44 58
  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 44 58
  3. 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 44 58
  4. Polymorphisms of candidate genes in Slovak autistic patients. (PMID: 20436377) Kelemenova S … Ostatnikova D (Psychiatric genetics 2010) 3 44 58
  5. A common variant in DRD3 receptor is associated with autism spectrum disorder. (PMID: 19058789) de Krom M … van Ree JM (Biological psychiatry 2009) 3 44 58

Products for OXT Gene

Sources for OXT Gene

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