TACR1 tachykinin receptor 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: TACR1provided by HGNC
Official Full Name: tachykinin receptor 1provided by HGNC
Primary source: HGNC:HGNC:11526
See related: Ensembl:ENSG00000115353 MIM:162323; AllianceGenome:HGNC:11526
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: SPR; NK1R; NKIR; TAC1R
Summary: 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]
Expression: Broad expression in skin (RPKM 1.8), endometrium (RPKM 1.4) and 17 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 2p12

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (75046463..75199520, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (75055302..75208694, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (75273590..75426646, complement)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Association of genetic variants in CYP3A5, DRD2 and NK1R with opioid overdose.
Title: Association of genetic variants in CYP3A5, DRD2 and NK1R with opioid overdose.
Alpha Calcitonin Gene-related Peptide, Neuropeptide Y, and Substance P as Biomarkers for Diagnosis and Disease Activity and Severity in Multiple Sclerosis.
Title: Alpha Calcitonin Gene-related Peptide, Neuropeptide Y, and Substance P as Biomarkers for Diagnosis and Disease Activity and Severity in Multiple Sclerosis.
TNF-alpha evokes blood-brain barrier dysfunction through activation of Rho-kinase and neurokinin 1 receptor.
Title: TNF-α evokes blood-brain barrier dysfunction through activation of Rho-kinase and neurokinin 1 receptor.
Involvement of Substance P (SP) and Its Related NK1 Receptor in Primary Sjogren's Syndrome (pSS) Pathogenesis.
Title: Involvement of Substance P (SP) and Its Related NK1 Receptor in Primary Sjögren's Syndrome (pSS) Pathogenesis.
The neuropeptide substance P/neurokinin-1 receptor system and diabetes: From mechanism to therapy.
Title: The neuropeptide substance P/neurokinin-1 receptor system and diabetes: From mechanism to therapy.
Neurokinin-1 receptor is highly expressed in cervical cancer and its antagonist induces cervical cancer cell apoptosis.
Title: Neurokinin-1 receptor is highly expressed in cervical cancer and its antagonist induces cervical cancer cell apoptosis.
Upregulated expression of substance P and NK1R in blood monocytes and B cells of patients with allergic rhinitis and asthma.
Title: Upregulated expression of substance P and NK1R in blood monocytes and B cells of patients with allergic rhinitis and asthma.
Substance P promotes the progression of bronchial asthma through activating the PI3K/AKT/NF-kappaB pathway mediated cellular inflammation and pyroptotic cell death in bronchial epithelial cells.
Title: Substance P promotes the progression of bronchial asthma through activating the PI3K/AKT/NF-κB pathway mediated cellular inflammation and pyroptotic cell death in bronchial epithelial cells.
The Neurokinin-1 Receptor Is Essential for the Viability of Human Glioma Cells: A Possible Target for Treating Glioblastoma.
Title: The Neurokinin-1 Receptor Is Essential for the Viability of Human Glioma Cells: A Possible Target for Treating Glioblastoma.
A Substance P (SP)/Neurokinin-1 Receptor Axis Promotes Perineural Invasion of Pancreatic Cancer and Is Affected by lncRNA LOC389641.
Title: A Substance P (SP)/Neurokinin-1 Receptor Axis Promotes Perineural Invasion of Pancreatic Cancer and Is Affected by lncRNA LOC389641.

Submit: New GeneRIF Correction See all GeneRIFs (169)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide scan of healthy human connectome discovers SPON1 gene variant influencing dementia severity. EBI GWAS Catalog EBI GWAS CatalogPubMed
Sex-stratified genome-wide association studies including 270,000 individuals show sexual dimorphism in genetic loci for anthropometric traits. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G43577 (e-PCR)
- UniSTS:95023

A008C01 (e-PCR)
- UniSTS:62008

WI-18908 (e-PCR)
- UniSTS:72761

NoName (e-PCR)
- UniSTS:482116

SHGC-12799 (e-PCR)
- UniSTS:8023

RH69174 (e-PCR)
- UniSTS:7540

STS-T91312 (e-PCR)
- UniSTS:49783

D2S286 (e-PCR), detects polymorphism
- UniSTS:54406

G60248 (e-PCR)
- UniSTS:137355

D2S286 (e-PCR), detects polymorphism
- UniSTS:76191

SHGC-12520 (e-PCR)
- UniSTS:2998

SHGC-37085 (e-PCR)
- UniSTS:13779

SHGC-30537 (e-PCR)
- UniSTS:79077

G31043 (e-PCR)
- UniSTS:19689

G59805 (e-PCR)
- UniSTS:136954

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables substance P receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables substance P receptor activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables tachykinin receptor activity	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in aggressive behavior	IEA Inferred from Electronic Annotation more info
involved_in angiotensin-mediated drinking behavior	IEA Inferred from Electronic Annotation more info
involved_in associative learning	IEA Inferred from Electronic Annotation more info
involved_in behavioral response to pain	IEA Inferred from Electronic Annotation more info
involved_in detection of abiotic stimulus	TAS Traceable Author Statement more info	PubMed
involved_in eating behavior	IEA Inferred from Electronic Annotation more info
involved_in inflammatory response	TAS Traceable Author Statement more info	PubMed
involved_in long-term memory	IEA Inferred from Electronic Annotation more info
involved_in operant conditioning	IEA Inferred from Electronic Annotation more info
involved_in phospholipase C-activating G protein-coupled receptor signaling pathway	TAS Traceable Author Statement more info	PubMed
involved_in positive regulation of action potential	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of blood pressure	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of cytosolic calcium ion concentration	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of epithelial cell migration	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of epithelial cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of flagellated sperm motility	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of flagellated sperm motility	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of hormone secretion	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of leukocyte migration	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of lymphocyte proliferation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of ossification	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of stress fiber assembly	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of synaptic transmission, GABAergic	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of synaptic transmission, cholinergic	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of uterine smooth muscle contraction	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of vascular permeability	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of vasoconstriction	IEA Inferred from Electronic Annotation more info
involved_in regulation of smooth muscle cell migration	IEA Inferred from Electronic Annotation more info
involved_in regulation of smooth muscle cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in response to auditory stimulus	IEA Inferred from Electronic Annotation more info
involved_in response to electrical stimulus	IEA Inferred from Electronic Annotation more info
involved_in response to estradiol	IEA Inferred from Electronic Annotation more info
involved_in response to ethanol	IEA Inferred from Electronic Annotation more info
involved_in response to nicotine	IEA Inferred from Electronic Annotation more info
involved_in response to ozone	IEA Inferred from Electronic Annotation more info
involved_in response to progesterone	IEA Inferred from Electronic Annotation more info
involved_in smooth muscle contraction involved in micturition	IEA Inferred from Electronic Annotation more info
involved_in sperm ejaculation	IEA Inferred from Electronic Annotation more info
involved_in tachykinin receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in tachykinin receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in cell body	IEA Inferred from Electronic Annotation more info
located_in cell surface	IEA Inferred from Electronic Annotation more info
located_in dendrite	IEA Inferred from Electronic Annotation more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info
located_in postsynaptic membrane	IEA Inferred from Electronic Annotation more info
located_in sperm flagellum	IDA Inferred from Direct Assay more info	PubMed
located_in sperm head	IDA Inferred from Direct Assay more info	PubMed
is_active_in sperm midpiece	IBA Inferred from Biological aspect of Ancestor more info
located_in sperm midpiece	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: substance-P receptor

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

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_029522.2 RefSeqGene

Range

5000..158057

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001058.4 → NP_001049.1 substance-P receptor isoform long

See identical proteins and their annotated locations for NP_001049.1

Status: REVIEWED

Description

Transcript Variant: This variant (long) represents the longer and predominant transcript and it encodes the longer protein (isoform long).

Source sequence(s)

AC007400, AC007681, AW206679, DB203452, M74290

Consensus CDS

CCDS1958.1

UniProtKB/Swiss-Prot

A8K150, P25103

UniProtKB/TrEMBL

Q4VBL8

Related

ENSP00000303522.4, ENST00000305249.10

Conserved Domains (1) summary

cd16002
Location:33 → 316

7tmA_NK1R; neurokinin 1 receptor, member of the class A family of seven-transmembrane G protein-coupled receptors
NM_015727.3 → NP_056542.1 substance-P receptor isoform short

See identical proteins and their annotated locations for NP_056542.1

Status: REVIEWED

Description

Transcript Variant: This variant (short) uses a different splice site in the 3' coding region, compared to variant long. The resulting protein (isoform short) has a shorter and distinct C-terminus when compared to the long isoform.

Source sequence(s)

AC007400, AC007681, DB203452, M74290, M84426

Consensus CDS

CCDS46345.1

UniProtKB/Swiss-Prot

P25103

Related

ENSP00000386448.3, ENST00000409848.3

Conserved Domains (2) summary

cd14964
Location:35 → 59

7tm_GPCRs; TM helix 1 [structural motif]

cl28897
Location:33 → 311

7tm_GPCRs; seven-transmembrane G protein-coupled receptor superfamily