OXT (oxytocin/neurophysin I prepropeptide)

Gene

• Entrez ID: 5020
• Gene name: Oxytocin/neurophysin I prepropeptide
• Gene symbol: OXT
• Synonyms: OT, OT-NPI, OXT-NPI
• Chromosome: 20
• Chromosome location: 20p13
• 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. Togeth

Transcription factors

Transcription factor	Regulation	Reference
ESR1	Unknown	10411324
ESR2	Unknown	10411324
NR2C2	Unknown	17054912

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001975	Process	Response to amphetamine	IEA
GO:0002027	Process	Regulation of heart rate	IEA
GO:0002125	Process	Maternal aggressive behavior	IEA
GO:0005184	Function	Neuropeptide hormone activity	IBA	21873635
GO:0005185	Function	Neurohypophyseal hormone activity	IEA
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IBA	21873635
GO:0007165	Process	Signal transduction	TAS	10218979
GO:0007186	Process	G protein-coupled receptor signaling pathway	TAS
GO:0007204	Process	Positive regulation of cytosolic calcium ion concentration	IEA
GO:0007507	Process	Heart development	IEA
GO:0007565	Process	Female pregnancy	IEA
GO:0007613	Process	Memory	IEA
GO:0007625	Process	Grooming behavior	IEA
GO:0009744	Process	Response to sucrose	IEA
GO:0010701	Process	Positive regulation of norepinephrine secretion	IEA
GO:0014823	Process	Response to activity	IEA
GO:0030141	Component	Secretory granule	IBA	21873635
GO:0030431	Process	Sleep	IEA
GO:0031855	Function	Oxytocin receptor binding	IBA	21873635
GO:0032094	Process	Response to food	IEA
GO:0032308	Process	Positive regulation of prostaglandin secretion	IEA
GO:0032355	Process	Response to estradiol	IEA
GO:0032526	Process	Response to retinoic acid	IEA
GO:0032570	Process	Response to progesterone	IEA
GO:0034695	Process	Response to prostaglandin E	IEA
GO:0035176	Process	Social behavior	IEA
GO:0035811	Process	Negative regulation of urine volume	IEA
GO:0035815	Process	Positive regulation of renal sodium excretion	IEA
GO:0042220	Process	Response to cocaine	IEA
GO:0042538	Process	Hyperosmotic salinity response	IEA
GO:0042711	Process	Maternal behavior	IEA
GO:0042713	Process	Sperm ejaculation	IEA
GO:0042755	Process	Eating behavior	IEA
GO:0042756	Process	Drinking behavior	IEA
GO:0043195	Component	Terminal bouton	IEA
GO:0043434	Process	Response to peptide hormone	IEA
GO:0045472	Process	Response to ether	IEA
GO:0045776	Process	Negative regulation of blood pressure	IEA
GO:0045777	Process	Positive regulation of blood pressure	IEA
GO:0045778	Process	Positive regulation of ossification	IEA
GO:0045925	Process	Positive regulation of female receptivity	IEA
GO:0050806	Process	Positive regulation of synaptic transmission	IEA
GO:0051384	Process	Response to glucocorticoid	IEA
GO:0051591	Process	Response to cAMP	IEA
GO:0051602	Process	Response to electrical stimulus	IEA
GO:0051930	Process	Regulation of sensory perception of pain	IEA
GO:0051965	Process	Positive regulation of synapse assembly	IEA
GO:0060179	Process	Male mating behavior	IEA
GO:0060406	Process	Positive regulation of penile erection	IEA
GO:0060450	Process	Positive regulation of hindgut contraction	IEA
GO:0060455	Process	Negative regulation of gastric acid secretion	IEA
GO:0070474	Process	Positive regulation of uterine smooth muscle contraction	IEA
GO:0120162	Process	Positive regulation of cold-induced thermogenesis	ISS	18071238

Other IDs

• MIM: 167050
• HGNC: 8528
• e!Ensembl: ENSG00000101405

Protein

• UniProt ID: P01178
• Protein name: Oxytocin-neurophysin 1 (OT-NPI) [Cleaved into: Oxytocin (Ocytocin); Neurophysin 1]
• Protein 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).
• PDB: 7OFG, 7OTD, 7QVM, 7RYC
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00220	Hormone_4	20 → 28	Neurohypophysial hormones, N-terminal Domain	Family
  PF00184	Hormone_5	39 → 116	Neurohypophysial hormones, C-terminal Domain	Family

• Sequence:

  MAGPSLACCLLGLLALTSACYIQNCPLGGKRAAPDLDVRKCLPCGPGGKGRCFGPNICCA
  EELGCFVGTAEALRCQEENYLPSPCQSGQKACGSGGRCAVLGLCCSPDGCHADPACDAEA
  TFSQR

• Sequence length: 125

Pathways

KEGG:

cAMP signaling pathway
Neuroactive ligand-receptor interaction
Hormone signaling
Oxytocin signaling pathway

Reactome:

Vasopressin-like receptors
G alpha (q) signalling events

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Autism	Autistic Disorder	rs121964908, rs121912597, rs2710102, rs7794745, rs142990298, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699, rs1553510219, rs1684182454, rs1559060428, rs1553510677, rs1576352885, rs1574152522, rs1574152672, rs1696658542, rs1751123722, rs1750373491, rs1751075634	15288368, 18775368
Carcinoma	Carcinoma, Carcinoma, Spindle-Cell, Undifferentiated carcinoma	rs121912654, rs555607708, rs786202962, rs1564055259	8647655
Colonic neoplasms	Malignant tumor of colon, Colonic Neoplasms	rs267607789, rs774277300, rs781222233, rs1060502734, rs1060503333, rs1339238483	8647655
Epilepsy	Epilepsy, Tonic-Clonic, Familial, Epilepsy, Tonic-Clonic, Symptomatic	rs113994140, rs119454947, rs28937874, rs1589762127, rs104894166, rs28939075, rs2134001459, rs104894167, rs119488099, rs119488100, rs1805032, rs387906420, rs121917752, rs121918622, rs121434579, rs1581220270, rs281865564, rs387907313, rs397514564, rs397514670, rs768241563, rs587776973, rs587776974, rs587776975, rs879255234, rs587776976, rs587776977, rs121917993, rs398123588, rs13306758, rs587777363, rs587777364, rs587777458, rs587777459, rs541024038, rs797044545, rs730882240, rs786205703, rs794726859, rs796053126, rs796053035, rs796053216, rs796052839, rs869025201, rs797044999, rs797044998, rs797045045, rs794726762, rs869312971, rs869312972, rs879255652, rs886037938, rs886037958, rs886037959, rs886037960, rs886037961, rs886037962, rs886037965, rs886037966, rs886039245, rs886039246, rs886039251, rs886039252, rs772872014, rs886039253, rs886039256, rs757511744, rs886039261, rs886039263, rs578185749, rs886039266, rs886039268, rs886039269, rs886039273, rs368820286, rs1057518801, rs1057518688, rs1057519107, rs1057519273, rs752753379, rs767795673, rs1057519424, rs755946598, rs760609867, rs1057521066, rs1057524233, rs1060501488, rs1060501487, rs755127868, rs751533302, rs771373457, rs1475605360, rs1555401942, rs1553567864, rs200661329, rs766667249, rs1556607762, rs1555882921, rs1555882867, rs1555900914, rs1553546836, rs77216276, rs755595256, rs1554169267, rs747661902, rs2105890565, rs1021001959, rs1555441032, rs1555439541, rs1556526609, rs1315483224, rs759952667, rs1555885023, rs1553456695, rs1555942720, rs1569083500, rs1559127505, rs1206309859, rs1567139896, rs1567134495, rs1431914212, rs1569166925, rs1569255443, rs1568955379, rs1567152003, rs374158137, rs1567129567, rs1569523728, rs1568991466, rs1569186093, rs1569254004, rs1372605067, rs1569067939, rs1568963062, rs1563959514, rs1569012755, rs1559118914, rs1602338615, rs1596522356, rs1364913665, rs1596522300, rs1596526976, rs1229740428, rs1596385588, rs1596500172, rs1596505517, rs1601925213, rs1601970168, rs1602010382, rs1602903591, rs1603014297, rs1603014708, rs1601875057, rs1601970824, rs1601755632, rs1587393982, rs1592977444, rs1575562076, rs1570998206, rs1588057922, rs1596528731, rs1602349641, rs1587401875, rs2065899210, rs1596526915, rs2093486364, rs2056165149, rs2056100951, rs781482552, rs1899868619, rs1900088045, rs1898675878, rs1898686157, rs1898837245, rs1898844513, rs2082841677, rs2085727988, rs2092933941, rs2091657024, rs1899864955, rs1898844907, rs2083056830, rs2084070588, rs1899713412, rs2082695884, rs1977106116, rs1977105425, rs1443687532	6407273, 4988877
Hypertension	Hypertensive disease	rs13306026, rs13333226	18562099, 9334988
Schizophrenia	Schizophrenia	rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313	23284802, 21962914, 21899794, 22651577, 20196918
Seizure	Complex partial seizures, Generalized seizures, Visual seizure, Tonic - clonic seizures, Single Seizure	rs587784365, rs28939683, rs74315390, rs28939684, rs74315391, rs267607198, rs74315392, rs118192244, rs118192250, rs121917749, rs121917750, rs121917751, rs121917752, rs267606670, rs267607061, rs121912707, rs118192249, rs118192251, rs118192217, rs118192218, rs118192219, rs118192222, rs118192226, rs118192228, rs118192234, rs118192236, rs118192235, rs118192241, rs118192242, rs118192185, rs118192188, rs118192245, rs118192246, rs118192186, rs118192194, rs118192197, rs118192199, rs118192201, rs118192202, rs118192203, rs118192204, rs118192205, rs118192206, rs118192208, rs118192211, rs118192216, rs118192239, rs387906684, rs387906686, rs387906687, rs1596893185, rs387907126, rs387907281, rs397515405, rs587778771, rs730882067, rs730882073, rs397514579, rs397514582, rs587776976, rs398122394, rs121918784, rs121918751, rs121918735, rs398123588, rs587780450, rs61749751, rs587777620, rs727503974, rs730882124, rs794726710, rs794726697, rs794726799, rs794727444, rs794727740, rs796053166, rs794726825, rs796052676, rs796053219, rs796053220, rs796053228, rs796052653, rs759584387, rs796052650, rs796052641, rs796052626, rs796052623, rs796052663, rs796052615, rs796052802, rs797044999, rs797045047, rs797045942, rs797045941, rs118192212, rs797044938, rs777257591, rs864321712, rs879255652, rs886039268, rs886039517, rs886039529, rs199497486, rs886039496, rs886039903, rs886041300, rs769827124, rs886041339, rs886041591, rs587783092, rs1555850151, rs1057516123, rs1057516121, rs1057516115, rs1057516111, rs1057516106, rs1057516105, rs756921902, rs1057516089, rs1057516087, rs1057516080, rs1057516076, rs1060499544, rs1555850512, rs1057517919, rs118192231, rs1057520413, rs1060503101, rs1064796294, rs1064794981, rs1064794632, rs1064797245, rs1131691830, rs1131692231, rs1131691936, rs1554626549, rs1553579225, rs1553531385, rs121918736, rs1554898088, rs1553579282, rs763353895, rs1553463119, rs1554093891, rs77838305, rs1555408401, rs1554627439, rs1554097873, rs1555850403, rs1064794719, rs1315483224, rs1567134495, rs770187706, rs1057518555, rs1576983339, rs1574192005, rs1459374430, rs1586800133, rs1574641522, rs1572096837, rs1572630269, rs1574554892, rs1574556643, rs1574571769, rs1574641605, rs1574697769, rs1574716524, rs1574746733, rs1574746935, rs1574752700, rs1574754680, rs863225030, rs1601545088, rs1600714727, rs1371059392, rs1600767259, rs1339542565, rs1600785769, rs2065899210, rs1600732174, rs1162306056, rs879255709, rs1900111672, rs2066910297, rs1554122080, rs796052941, rs1600789325, rs2082695884, rs1737677036, rs1737495759, rs868389022, rs1737685202, rs1737672350, rs762737130	292422, 5067144, 19397503, 644406, 3923190, 5493616, 19397503, 3923190, 292422, 5493616, 644406, 5067144, 3923190, 5493616, 5067144, 644406, 19397503, 292422, 292422, 19397503, 5067144, 644406, 3923190, 5493616, 19397503, 5067144, 3923190, 5493616, 644406, 292422

Unknown
Disease name	Disease term	dbSNP ID	References
Anaplastic carcinoma	Anaplastic carcinoma		8647655
Anxiety disorder	Anxiety Disorders, Anxiety States, Neurotic		19228979
Clonic seizures	Clonic Seizures		644406, 5067144, 3923190, 292422, 19397503, 5493616
Cryptogenic tonic-clonic epilepsy	Cryptogenic Tonic-Clonic Epilepsy		6407273, 4988877
Disseminated intravascular coagulation	Disseminated Intravascular Coagulation		15547535
Hypotonic seizures	Epileptic drop attack		5067144, 644406, 3923190, 19397503, 5493616, 292422
Jacksonian seizure	Jacksonian Seizure		3923190, 292422, 5067144, 644406, 19397503, 5493616
Mental depression	Mental Depression, Depressive disorder, Unipolar Depression, Major Depressive Disorder	rs587778876, rs587778877	23846912, 23941164, 25025656, 24025838, 22088430, 25025656, 24025838, 23941164, 23846912, 22088430, 19500216, 19515497, 21208749, 19500216, 21208749, 19515497
Mood disorder	Mood Disorders		20547007
Prostatic diseases	Prostatic Diseases		17492653
Taste disorders	Taste Disorders		7080326
Tonic-clonic epilepsy	Tonic-Clonic Epilepsy		6407273, 4988877