Endometriosis Knowledgebase

Search Result

Gene id

5021

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

Gene Summary

Gene Symbol

OXTR Gene UCSC Ensembl

Aliases

OT-R

Gene name

oxytocin receptor

Alternate names

oxytocin receptor,

Gene location

3p25.3 (8769613: 8748578) Exons: 4 NC_000003.12

Gene summary(Entrez)

The protein encoded by this gene belongs to the G-protein coupled receptor family and acts as a receptor for oxytocin. Its activity is mediated by G proteins which activate a phosphatidylinositol-calcium second messenger system. The oxytocin-oxytocin receptor system plays an important role in the uterus during parturition. [provided by RefSeq, Jul 2008]

OMIM

167055

Protein Summary

Protein general information

P30559

Name: Oxytocin receptor (OT R)

Length: 389 Mass: 42,772

Sequence

MEGALAANWSAEAANASAAPPGAEGNRTAGPPRRNEALARVEVAVLCLILLLALSGNACVLLALRTTRQKHSRLF
FFMKHLSIADLVVAVFQVLPQLLWDITFRFYGPDLLCRLVKYLQVVGMFASTYLLLLMSLDRCLAICQPLRSLRR
RTDRLAVLATWLGCLVASAPQVHIFSLREVADGVFDCWAVFIQPWGPKAYITWITLAVYIVPVIVLAACYGLISF
KIWQNLRLKTAAAAAAEAPEGAAAGDGGRVALARVSSVKLISKAKIRTVKMTFIIVLAFIVCWTPFFFVQMWSVW
DANAPKEASAFIIVMLLASLNSCCNPWIYMLFTGHLFHELVQRFLCCSASYLKGRRLGETSASKKSNSSSFVLSH
RSSSQRSCSQPSTA

Structural information

Interpro:	IPR000276 IPR017452 IPR002062 IPR001817
Prosite:	PS00237 PS50262
Pfam:	PF00001
STRING:	ENSP00000324270;

Other Databases

GeneCards: OXTR; Malacards: OXTR

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001967	suckling behavior	IEA	biological_process
GO:0001975	response to amphetamine	IEA	biological_process
GO:0001992	regulation of systemic ar terial blood pressure by vasopressin	IBA	biological_process
GO:0004990	oxytocin receptor activit y	IEA	molecular_function
GO:0005000	vasopressin receptor acti vity	IBA	molecular_function
GO:0005829	cytosol	IEA	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005887	integral component of pla sma membrane	TAS	cellular_component
GO:0005902	microvillus	IEA	cellular_component
GO:0005913	cell-cell adherens juncti on	IEA	cellular_component
GO:0006936	muscle contraction	TAS	biological_process
GO:0007166	cell surface receptor sig naling pathway	TAS	biological_process
GO:0007186	G-protein coupled recepto r signaling pathway	IEA	biological_process
GO:0007204	positive regulation of cy tosolic calcium ion conce ntration	IEA	biological_process
GO:0007507	heart development	IEA	biological_process
GO:0007565	female pregnancy	IEA	biological_process
GO:0007595	lactation	TAS	biological_process
GO:0007613	memory	IEA	biological_process
GO:0010701	positive regulation of no repinephrine secretion	IEA	biological_process
GO:0016324	apical plasma membrane	IEA	cellular_component
GO:0017046	peptide hormone binding	IEA	molecular_function
GO:0021537	telencephalon development	IEA	biological_process
GO:0030431	sleep	IEA	biological_process
GO:0032230	positive regulation of sy naptic transmission, GABA ergic	IEA	biological_process
GO:0032355	response to estradiol	IEA	biological_process
GO:0032570	response to progesterone	IEA	biological_process
GO:0032870	cellular response to horm one stimulus	IBA	biological_process
GO:0034059	response to anoxia	IEA	biological_process
GO:0034097	response to cytokine	IEA	biological_process
GO:0035176	social behavior	IBA	biological_process
GO:0042220	response to cocaine	IEA	biological_process
GO:0042277	peptide binding	IBA	molecular_function
GO:0042493	response to drug	IEA	biological_process
GO:0042711	maternal behavior	IBA	biological_process
GO:0042713	sperm ejaculation	IEA	biological_process
GO:0042755	eating behavior	IEA	biological_process
GO:0043434	response to peptide hormo ne	IEA	biological_process
GO:0044849	estrous cycle	IEA	biological_process
GO:0045777	positive regulation of bl ood pressure	IEA	biological_process
GO:0045907	positive regulation of va soconstriction	IBA	biological_process
GO:0048565	digestive tract developme nt	IEA	biological_process
GO:0051965	positive regulation of sy napse assembly	IEA	biological_process
GO:0051968	positive regulation of sy naptic transmission, glut amatergic	IEA	biological_process
GO:0060137	maternal process involved in parturition	IEA	biological_process
GO:0060406	positive regulation of pe nile erection	IEA	biological_process
GO:0060455	negative regulation of ga stric acid secretion	IEA	biological_process
GO:0070371	ERK1 and ERK2 cascade	IEA	biological_process
GO:0070474	positive regulation of ut erine smooth muscle contr action	IEA	biological_process
GO:1901652	response to peptide	IBA	biological_process
GO:0001967	suckling behavior	IEA	biological_process
GO:0001975	response to amphetamine	IEA	biological_process
GO:0001992	regulation of systemic ar terial blood pressure by vasopressin	IBA	biological_process
GO:0004871	signal transducer activit y	IEA	molecular_function
GO:0004930	G-protein coupled recepto r activity	IEA	molecular_function
GO:0004930	G-protein coupled recepto r activity	IEA	molecular_function
GO:0004990	oxytocin receptor activit y	IEA	molecular_function
GO:0004990	oxytocin receptor activit y	IEA	molecular_function
GO:0004990	oxytocin receptor activit y	TAS	molecular_function
GO:0005000	vasopressin receptor acti vity	IEA	molecular_function
GO:0005000	vasopressin receptor acti vity	IBA	molecular_function
GO:0005622	intracellular	IEA	cellular_component
GO:0005829	cytosol	IEA	cellular_component
GO:0005886	plasma membrane	IEA	cellular_component
GO:0005886	plasma membrane	IEA	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005887	integral component of pla sma membrane	TAS	cellular_component
GO:0005902	microvillus	IEA	cellular_component
GO:0005913	cell-cell adherens juncti on	IEA	cellular_component
GO:0006936	muscle contraction	TAS	biological_process
GO:0007165	signal transduction	IEA	biological_process
GO:0007166	cell surface receptor sig naling pathway	TAS	biological_process
GO:0007186	G-protein coupled recepto r signaling pathway	IEA	biological_process
GO:0007186	G-protein coupled recepto r signaling pathway	IEA	biological_process
GO:0007186	G-protein coupled recepto r signaling pathway	IEA	biological_process
GO:0007204	positive regulation of cy tosolic calcium ion conce ntration	IEA	biological_process
GO:0007507	heart development	IEA	biological_process
GO:0007565	female pregnancy	IEA	biological_process
GO:0007565	female pregnancy	TAS	biological_process
GO:0007595	lactation	TAS	biological_process
GO:0007613	memory	IEA	biological_process
GO:0010701	positive regulation of no repinephrine secretion	IEA	biological_process
GO:0014070	response to organic cycli c compound	IEA	biological_process
GO:0016020	membrane	IEA	cellular_component
GO:0016021	integral component of mem brane	IEA	cellular_component
GO:0016021	integral component of mem brane	IEA	cellular_component
GO:0016324	apical plasma membrane	IEA	cellular_component
GO:0017046	peptide hormone binding	IEA	molecular_function
GO:0021537	telencephalon development	IEA	biological_process
GO:0030431	sleep	IEA	biological_process
GO:0032230	positive regulation of sy naptic transmission, GABA ergic	IEA	biological_process
GO:0032355	response to estradiol	IEA	biological_process
GO:0032570	response to progesterone	IEA	biological_process
GO:0032870	cellular response to horm one stimulus	IBA	biological_process
GO:0034059	response to anoxia	IEA	biological_process
GO:0034097	response to cytokine	IEA	biological_process
GO:0035176	social behavior	IEA	biological_process
GO:0035176	social behavior	IBA	biological_process
GO:0042220	response to cocaine	IEA	biological_process
GO:0042277	peptide binding	IBA	molecular_function
GO:0042493	response to drug	IEA	biological_process
GO:0042711	maternal behavior	IEA	biological_process
GO:0042711	maternal behavior	IBA	biological_process
GO:0042713	sperm ejaculation	IEA	biological_process
GO:0042755	eating behavior	IEA	biological_process
GO:0043434	response to peptide hormo ne	IEA	biological_process
GO:0044058	regulation of digestive s ystem process	IEA	biological_process
GO:0044849	estrous cycle	IEA	biological_process
GO:0045777	positive regulation of bl ood pressure	IEA	biological_process
GO:0045907	positive regulation of va soconstriction	IBA	biological_process
GO:0048545	response to steroid hormo ne	IEA	biological_process
GO:0048565	digestive tract developme nt	IEA	biological_process
GO:0051965	positive regulation of sy napse assembly	IEA	biological_process
GO:0051968	positive regulation of sy naptic transmission, glut amatergic	IEA	biological_process
GO:0060137	maternal process involved in parturition	IEA	biological_process
GO:0060406	positive regulation of pe nile erection	IEA	biological_process
GO:0060455	negative regulation of ga stric acid secretion	IEA	biological_process
GO:0070371	ERK1 and ERK2 cascade	IEA	biological_process
GO:0070474	positive regulation of ut erine smooth muscle contr action	IEA	biological_process
GO:1901652	response to peptide	IBA	biological_process
GO:0001992	regulation of systemic ar terial blood pressure by vasopressin	IBA	biological_process
GO:0004990	oxytocin receptor activit y	TAS	molecular_function
GO:0005000	vasopressin receptor acti vity	IBA	molecular_function
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005887	integral component of pla sma membrane	TAS	cellular_component
GO:0006936	muscle contraction	TAS	biological_process
GO:0007166	cell surface receptor sig naling pathway	TAS	biological_process
GO:0007565	female pregnancy	TAS	biological_process
GO:0007595	lactation	TAS	biological_process
GO:0032870	cellular response to horm one stimulus	IBA	biological_process
GO:0035176	social behavior	IBA	biological_process
GO:0042277	peptide binding	IBA	molecular_function
GO:0042711	maternal behavior	IBA	biological_process
GO:0045907	positive regulation of va soconstriction	IBA	biological_process
GO:1901652	response to peptide	IBA	biological_process

KEGG pathways

hsa04080  Neuroactive ligand-receptor interaction
hsa04024  cAMP signaling pathway
hsa04020  Calcium signaling pathway
hsa04921  Oxytocin signaling pathway

Diseases

Associated diseases	References
Adenomyosis	PMID: 20413116
Asthenozoospermia	PMID: 21090345
Attention-deficit hyperactivity disorder (ADHD)	PMID: 11140838
Autism	PMID: 15992526
Azoospermia	PMID: 20711752
Depression	PMID: 19515497
Dysmenorrhea	PMID: 20096818
Endometriosis	PMID: 28049501
Irritable bowel syndrome	PMID: 19943975
Oligozoospermia	PMID: 20711752
Endometriosis	INFBASE28049501
Psychiatric disorders	PMID: 19086053

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
28049501	Endometrio sis			69 (21 endometr iosis patients( 17 ovarian endo metriosis, 4 de ep infiltrating endometriosis) , 48 controls ( 36 cervical can cer, 12 CIN III ))			Show abstract