Endometriosis Knowledgebase

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Gene id

6869

Gene Summary SNPs Protein Summary Gene ontology KEGG pathways Diseases PubMed references

Gene Summary

Gene Symbol

TACR1 Gene UCSC Ensembl

Aliases

NK1R, NKIR, SPR, TAC1R

Gene name

tachykinin receptor 1

Alternate names

substance-P receptor, NK-1 receptor, NK-1R, tachykinin receptor 1 (substance P receptor; neurokinin-1 receptor),

Gene location

2p12 (75199518: 75046462) Exons: 5 NC_000002.12

Gene summary(Entrez)

This gene belongs to a gene family of tachykinin receptors. These tachykinin receptors are characterized by interactions with G proteins and contain seven hydrophobic transmembrane regions. This gene encodes the receptor for the tachykinin substance P, also referred to as neurokinin 1. The encoded protein is also involved in the mediation of phosphatidylinositol metabolism of substance P. [provided by RefSeq, Sep 2008]

OMIM

162323

SNPs

rs881

Strand:    Allele origin:   Allele change: C/G   Mutation type: snp

CM000664.2   g.75049302C>G
NC_000002.11   g.75276429C>G
NC_000002.12   g.75049302C>G
NG_029522.1   g.155217G>C
NM_001058.3   c.*130G>C

Protein Summary

Protein general information

P25103

Name: Substance P receptor (SPR) (NK 1 receptor) (NK 1R) (Tachykinin receptor 1)

Length: 407 Mass: 46,251

Sequence

MDNVLPVDSDLSPNISTNTSEPNQFVQPAWQIVLWAAAYTVIVVTSVVGNVVVMWIILAHKRMRTVTNYFLVNLA
FAEASMAAFNTVVNFTYAVHNEWYYGLFYCKFHNFFPIAAVFASIYSMTAVAFDRYMAIIHPLQPRLSATATKVV
ICVIWVLALLLAFPQGYYSTTETMPSRVVCMIEWPEHPNKIYEKVYHICVTVLIYFLPLLVIGYAYTVVGITLWA
SEIPGDSSDRYHEQVSAKRKVVKMMIVVVCTFAICWLPFHIFFLLPYINPDLYLKKFIQQVYLAIMWLAMSSTMY
NPIIYCCLNDRFRLGFKHAFRCCPFISAGDYEGLEMKSTRYLQTQGSVYKVSRLETTISTVVGAHEEEPEDGPKA
TPSSLDLTSNCSSRSDSKTMTESFSFSSNVLS

Structural information

Interpro:	IPR000276 IPR017452 IPR001681 IPR000046
Prosite:	PS00237 PS50262
Pfam:	PF00001
PDB:	2KS9 2KSA 2KSB
PDBsum:	2KS9 2KSA 2KSB
STRING:	ENSP00000303522;

Other Databases

GeneCards: TACR1; Malacards: TACR1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0002118	aggressive behavior	IEA	biological_process
GO:0002526	acute inflammatory respon se	IEA	biological_process
GO:0002687	positive regulation of le ukocyte migration	IEA	biological_process
GO:0003051	angiotensin-mediated drin king behavior	IEA	biological_process
GO:0004995	tachykinin receptor activ ity	TAS	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005829	cytosol	IEA	cellular_component
GO:0005886	plasma membrane	IDA	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:0006954	inflammatory response	TAS	biological_process
GO:0007166	cell surface receptor sig naling pathway	IBA	biological_process
GO:0007200	phospholipase C-activatin g G-protein coupled recep tor signaling pathway	TAS	biological_process
GO:0007204	positive regulation of cy tosolic calcium ion conce ntration	IEA	biological_process
GO:0007217	tachykinin receptor signa ling pathway	IDA	biological_process
GO:0007268	chemical synaptic transmi ssion	IBA	biological_process
GO:0007616	long-term memory	IEA	biological_process
GO:0008306	associative learning	IEA	biological_process
GO:0009408	response to heat	IEA	biological_process
GO:0009582	detection of abiotic stim ulus	TAS	biological_process
GO:0009986	cell surface	IEA	cellular_component
GO:0010193	response to ozone	IEA	biological_process
GO:0010634	positive regulation of ep ithelial cell migration	IEA	biological_process
GO:0010996	response to auditory stim ulus	IEA	biological_process
GO:0014910	regulation of smooth musc le cell migration	IEA	biological_process
GO:0016496	substance P receptor acti vity	IBA	molecular_function
GO:0019233	sensory perception of pai n	IEA	biological_process
GO:0030425	dendrite	IEA	cellular_component
GO:0032224	positive regulation of sy naptic transmission, chol inergic	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:0035094	response to nicotine	IEA	biological_process
GO:0035106	operant conditioning	IEA	biological_process
GO:0035815	positive regulation of re nal sodium excretion	IEA	biological_process
GO:0042713	sperm ejaculation	IEA	biological_process
GO:0042755	eating behavior	IEA	biological_process
GO:0043117	positive regulation of va scular permeability	IEA	biological_process
GO:0043278	response to morphine	IEA	biological_process
GO:0044297	cell body	IEA	cellular_component
GO:0045471	response to ethanol	IEA	biological_process
GO:0045760	positive regulation of ac tion potential	IEA	biological_process
GO:0045777	positive regulation of bl ood pressure	IEA	biological_process
GO:0045778	positive regulation of os sification	IEA	biological_process
GO:0045907	positive regulation of va soconstriction	IEA	biological_process
GO:0045987	positive regulation of sm ooth muscle contraction	IBA	biological_process
GO:0046878	positive regulation of sa liva secretion	IEA	biological_process
GO:0046887	positive regulation of ho rmone secretion	IEA	biological_process
GO:0048266	behavioral response to pa in	IEA	biological_process
GO:0048660	regulation of smooth musc le cell proliferation	IEA	biological_process
GO:0050671	positive regulation of ly mphocyte proliferation	IEA	biological_process
GO:0050679	positive regulation of ep ithelial cell proliferati on	IEA	biological_process
GO:0051496	positive regulation of st ress fiber assembly	IEA	biological_process
GO:0051602	response to electrical st imulus	IEA	biological_process
GO:0060083	smooth muscle contraction involved in micturition	IEA	biological_process
GO:0070474	positive regulation of ut erine smooth muscle contr action	IEA	biological_process
GO:0002118	aggressive behavior	IEA	biological_process
GO:0002526	acute inflammatory respon se	IEA	biological_process
GO:0002687	positive regulation of le ukocyte migration	IEA	biological_process
GO:0003051	angiotensin-mediated drin king behavior	IEA	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:0004995	tachykinin receptor activ ity	IEA	molecular_function
GO:0004995	tachykinin receptor activ ity	TAS	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005737	cytoplasm	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	IEA	cellular_component
GO:0005886	plasma membrane	IEA	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	IDA	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:0006954	inflammatory response	TAS	biological_process
GO:0007165	signal transduction	IEA	biological_process
GO:0007166	cell surface receptor sig naling pathway	IBA	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:0007200	phospholipase C-activatin g G-protein coupled recep tor signaling pathway	TAS	biological_process
GO:0007204	positive regulation of cy tosolic calcium ion conce ntration	IEA	biological_process
GO:0007217	tachykinin receptor signa ling pathway	IDA	biological_process
GO:0007217	tachykinin receptor signa ling pathway	TAS	biological_process
GO:0007268	chemical synaptic transmi ssion	IBA	biological_process
GO:0007611	learning or memory	IEA	biological_process
GO:0007616	long-term memory	IEA	biological_process
GO:0008217	regulation of blood press ure	IEA	biological_process
GO:0008306	associative learning	IEA	biological_process
GO:0009408	response to heat	IEA	biological_process
GO:0009582	detection of abiotic stim ulus	TAS	biological_process
GO:0009725	response to hormone	IEA	biological_process
GO:0009986	cell surface	IEA	cellular_component
GO:0010193	response to ozone	IEA	biological_process
GO:0010634	positive regulation of ep ithelial cell migration	IEA	biological_process
GO:0010996	response to auditory stim ulus	IEA	biological_process
GO:0014070	response to organic cycli c compound	IEA	biological_process
GO:0014910	regulation of smooth musc le cell migration	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:0016496	substance P receptor acti vity	IEA	molecular_function
GO:0016496	substance P receptor acti vity	IBA	molecular_function
GO:0019233	sensory perception of pai n	IEA	biological_process
GO:0030425	dendrite	IEA	cellular_component
GO:0032224	positive regulation of sy naptic transmission, chol inergic	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:0035094	response to nicotine	IEA	biological_process
GO:0035106	operant conditioning	IEA	biological_process
GO:0035815	positive regulation of re nal sodium excretion	IEA	biological_process
GO:0042713	sperm ejaculation	IEA	biological_process
GO:0042755	eating behavior	IEA	biological_process
GO:0043117	positive regulation of va scular permeability	IEA	biological_process
GO:0043278	response to morphine	IEA	biological_process
GO:0044297	cell body	IEA	cellular_component
GO:0045471	response to ethanol	IEA	biological_process
GO:0045760	positive regulation of ac tion potential	IEA	biological_process
GO:0045777	positive regulation of bl ood pressure	IEA	biological_process
GO:0045778	positive regulation of os sification	IEA	biological_process
GO:0045907	positive regulation of va soconstriction	IEA	biological_process
GO:0045987	positive regulation of sm ooth muscle contraction	IBA	biological_process
GO:0046878	positive regulation of sa liva secretion	IEA	biological_process
GO:0046887	positive regulation of ho rmone secretion	IEA	biological_process
GO:0048265	response to pain	IEA	biological_process
GO:0048266	behavioral response to pa in	IEA	biological_process
GO:0048660	regulation of smooth musc le cell proliferation	IEA	biological_process
GO:0050671	positive regulation of ly mphocyte proliferation	IEA	biological_process
GO:0050679	positive regulation of ep ithelial cell proliferati on	IEA	biological_process
GO:0051496	positive regulation of st ress fiber assembly	IEA	biological_process
GO:0051602	response to electrical st imulus	IEA	biological_process
GO:0060083	smooth muscle contraction involved in micturition	IEA	biological_process
GO:0070472	regulation of uterine smo oth muscle contraction	IEA	biological_process
GO:0070474	positive regulation of ut erine smooth muscle contr action	IEA	biological_process
GO:0071944	cell periphery	IEA	cellular_component
GO:0004995	tachykinin receptor activ ity	TAS	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	IDA	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:0006954	inflammatory response	TAS	biological_process
GO:0007166	cell surface receptor sig naling pathway	IBA	biological_process
GO:0007200	phospholipase C-activatin g G-protein coupled recep tor signaling pathway	TAS	biological_process
GO:0007217	tachykinin receptor signa ling pathway	IDA	biological_process
GO:0007217	tachykinin receptor signa ling pathway	TAS	biological_process
GO:0007268	chemical synaptic transmi ssion	IBA	biological_process
GO:0009582	detection of abiotic stim ulus	TAS	biological_process
GO:0016496	substance P receptor acti vity	IBA	molecular_function
GO:0045987	positive regulation of sm ooth muscle contraction	IBA	biological_process

KEGG pathways

hsa04080  Neuroactive ligand-receptor interaction
hsa05162  Measles
hsa04020  Calcium signaling pathway
PTHR43919:SF2  CCKR signaling map
PTHR43919:SF2  CCKR signaling map

Diseases

Associated diseases	References
Endometriosis	PMID: 23553861
Endometriosis	INFBASE19903051

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
19903051	Endometrio sis	NK1R (rs811)				NK1R	Show abstract
23553861	Endometrio sis	FCRL3 -169T>C				TACR1 TACR2	Show abstract