Human Gene TACR1 (uc002sng.2)
  Description: Homo sapiens tachykinin receptor 1 (TACR1), transcript variant long, mRNA.
RefSeq Summary (NM_001058): 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].
Transcript (Including UTRs)
   Position: hg19 chr2:75,273,590-75,426,645 Size: 153,056 Total Exon Count: 5 Strand: -
Coding Region
   Position: hg19 chr2:75,276,559-75,426,060 Size: 149,502 Coding Exon Count: 5 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein Structure
Other SpeciesGO AnnotationsmRNA DescriptionsPathwaysOther NamesModel Information
Methods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr2:75,273,590-75,426,645)mRNA (may differ from genome)Protein (407 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkHGNCHPRDHuman Cortex Gene ExpressionLynxMalacards
MGIneXtProtOMIMPubMedReactomeTreefam
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: NK1R_HUMAN
DESCRIPTION: RecName: Full=Substance-P receptor; Short=SPR; AltName: Full=NK-1 receptor; Short=NK-1R; AltName: Full=Tachykinin receptor 1;
FUNCTION: This is a receptor for the tachykinin neuropeptide substance P. It is probably associated with G proteins that activate a phosphatidylinositol-calcium second messenger system. The rank order of affinity of this receptor to tachykinins is: substance P > substance K > neuromedin-K.
SUBUNIT: Interacts with ARRB1 (By similarity).
SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
SIMILARITY: Belongs to the G-protein coupled receptor 1 family.
WEB RESOURCE: Name=Wikipedia; Note=Tachykinin entry; URL="http://en.wikipedia.org/wiki/Tachykinin";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): TACR1
CDC HuGE Published Literature: TACR1
Positive Disease Associations: Body Height , Hip , slow transit constipation
Related Studies:
  1. Body Height
    , , . [PubMed 0]
  2. Hip
    Douglas P Kiel et al. BMC medical genetics 2007, Genome-wide association with bone mass and geometry in the Framingham Heart Study., BMC medical genetics. [PubMed 17903296]
    The FHS 100K SNP project offers an unbiased genome-wide strategy to identify new candidate loci and to replicate previously suggested candidate genes for osteoporosis.
  3. slow transit constipation
    Garcia-Barcelo, M. et al. 2007, Application of HapMap data to the evaluation of 8 candidate genes for pediatric slow transit constipation, J Pediatr Surg 2007 42(4) 666-71. [PubMed 17448763]
    Our data indicate that 5 SNPs in the NOS1, TACR1, TACR3, and KIT genes could be involved in STC, especially rs3771863 in intron 1 of TACR1, which showed the highest association.
           more ... click here to view the complete list

-  MalaCards Disease Associations
  MalaCards Gene Search: TACR1
Diseases sorted by gene-association score: neurotrophic keratopathy (4), cystitis (4), astrocytoma (4), mood disorder (3), spinocerebellar ataxia 23 (3), constipation (3), retinitis pigmentosa 68 (2), attention deficit-hyperactivity disorder (2), migraine with or without aura 1 (2), diverticulitis of colon (2), gastrointestinal system disease (1), perry syndrome (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 4.38 RPKM in Cervix - Endocervix
Total median expression: 46.50 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -218.21585-0.373 Picture PostScript Text
3' UTR -939.522969-0.316 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000276 - 7TM_GPCR_Rhodpsn
IPR017452 - GPCR_Rhodpsn_supfam
IPR001681 - Neurokn_rcpt
IPR000046 - NK1_rcpt

Pfam Domains:
PF00001 - 7 transmembrane receptor (rhodopsin family)

SCOP Domains:
81321 - Family A G protein-coupled receptor-like

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2KS9 - NMR 2KSA - NMR 2KSB - NMR


ModBase Predicted Comparative 3D Structure on P25103
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserGenome BrowserNo orthologGenome BrowserNo ortholog
Gene DetailsGene Details  Gene Details 
Gene SorterGene Sorter  Gene Sorter 
 RGDEnsembl WormBase 
 Protein SequenceProtein Sequence Protein Sequence 
 AlignmentAlignment Alignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004871 signal transducer activity
GO:0004930 G-protein coupled receptor activity
GO:0004995 tachykinin receptor activity
GO:0005515 protein binding
GO:0016496 substance P receptor activity

Biological Process:
GO:0002118 aggressive behavior
GO:0002526 acute inflammatory response
GO:0002687 positive regulation of leukocyte migration
GO:0003051 angiotensin-mediated drinking behavior
GO:0006954 inflammatory response
GO:0007165 signal transduction
GO:0007186 G-protein coupled receptor signaling pathway
GO:0007200 phospholipase C-activating G-protein coupled receptor signaling pathway
GO:0007204 positive regulation of cytosolic calcium ion concentration
GO:0007217 tachykinin receptor signaling pathway
GO:0007268 chemical synaptic transmission
GO:0007611 learning or memory
GO:0007616 long-term memory
GO:0008217 regulation of blood pressure
GO:0008306 associative learning
GO:0009408 response to heat
GO:0009582 detection of abiotic stimulus
GO:0009725 response to hormone
GO:0010193 response to ozone
GO:0010634 positive regulation of epithelial cell migration
GO:0010996 response to auditory stimulus
GO:0014070 response to organic cyclic compound
GO:0014910 regulation of smooth muscle cell migration
GO:0019233 sensory perception of pain
GO:0032224 positive regulation of synaptic transmission, cholinergic
GO:0032230 positive regulation of synaptic transmission, GABAergic
GO:0032355 response to estradiol
GO:0032570 response to progesterone
GO:0035094 response to nicotine
GO:0035106 operant conditioning
GO:0035815 positive regulation of renal sodium excretion
GO:0042713 sperm ejaculation
GO:0042755 eating behavior
GO:0043117 positive regulation of vascular permeability
GO:0043278 response to morphine
GO:0045471 response to ethanol
GO:0045760 positive regulation of action potential
GO:0045777 positive regulation of blood pressure
GO:0045778 positive regulation of ossification
GO:0045907 positive regulation of vasoconstriction
GO:0045987 positive regulation of smooth muscle contraction
GO:0046878 positive regulation of saliva secretion
GO:0046887 positive regulation of hormone secretion
GO:0048265 response to pain
GO:0048266 behavioral response to pain
GO:0048660 regulation of smooth muscle cell proliferation
GO:0050671 positive regulation of lymphocyte proliferation
GO:0050679 positive regulation of epithelial cell proliferation
GO:0051496 positive regulation of stress fiber assembly
GO:0051602 response to electrical stimulus
GO:0060083 smooth muscle contraction involved in micturition
GO:0070472 regulation of uterine smooth muscle contraction
GO:0070474 positive regulation of uterine smooth muscle contraction
GO:1902093 positive regulation of flagellated sperm motility

Cellular Component:
GO:0005737 cytoplasm
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0009986 cell surface
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0030425 dendrite
GO:0036126 sperm flagellum
GO:0044297 cell body
GO:0071944 cell periphery
GO:0097225 sperm midpiece


-  Descriptions from all associated GenBank mRNAs
  M74290 - Human substance P receptor protein mRNA.
M84425 - Homo sapiens substance P receptor (long form) mRNA, complete cds.
M81797 - Human NK-1 receptor mRNA, complete cds.
S62045 - NK-1 receptor [human, lung, mRNA, 1486 nt].
AK289765 - Homo sapiens cDNA FLJ77011 complete cds, highly similar to Homo sapiens tachykinin receptor 1 (TACR1), transcript variant long, mRNA.
BC074911 - Homo sapiens tachykinin receptor 1, mRNA (cDNA clone MGC:104072 IMAGE:30915523), complete cds.
BC074912 - Homo sapiens tachykinin receptor 1, mRNA (cDNA clone MGC:103920 IMAGE:30915310), complete cds.
M76675 - Human neurokinin 1 receptor (NKIR) mRNA, complete cds.
AY462098 - Homo sapiens tachykinin receptor 1 (TACR1) mRNA, complete cds.
BC095528 - Homo sapiens tachykinin receptor 1, mRNA (cDNA clone IMAGE:6912748), partial cds.
KJ892242 - Synthetic construct Homo sapiens clone ccsbBroadEn_01636 TACR1 gene, encodes complete protein.
M84426 - Homo sapiens substance P receptor (short form) mRNA, complete cds.
JD255418 - Sequence 236442 from Patent EP1572962.
JD087277 - Sequence 68301 from Patent EP1572962.
JD353915 - Sequence 334939 from Patent EP1572962.
JD264798 - Sequence 245822 from Patent EP1572962.
JD167252 - Sequence 148276 from Patent EP1572962.
JD275242 - Sequence 256266 from Patent EP1572962.
JD038577 - Sequence 19601 from Patent EP1572962.
JD038578 - Sequence 19602 from Patent EP1572962.
JD433670 - Sequence 414694 from Patent EP1572962.
JD532531 - Sequence 513555 from Patent EP1572962.
JD454603 - Sequence 435627 from Patent EP1572962.
JD211368 - Sequence 192392 from Patent EP1572962.
JD204414 - Sequence 185438 from Patent EP1572962.
JD044350 - Sequence 25374 from Patent EP1572962.
JD164357 - Sequence 145381 from Patent EP1572962.
JD349292 - Sequence 330316 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04020 - Calcium signaling pathway
hsa04080 - Neuroactive ligand-receptor interaction

Reactome (by CSHL, EBI, and GO)

Protein P25103 (Reactome details) participates in the following event(s):

R-HSA-380076 Tachykinin receptor 1 (NK1) binds to substance P
R-HSA-749452 The Ligand:GPCR:Gq complex dissociates
R-HSA-8866269 ARRB bind GPCRs
R-HSA-749448 Liganded Gq-activating GPCRs bind inactive heterotrimeric Gq
R-HSA-8866283 ARBB recruits GPCRs into clathrin-coated pits
R-HSA-379048 Liganded Gq/11-activating GPCRs act as GEFs for Gq/11
R-HSA-8867756 CLASP proteins and cargo are recruited to the nascent clathrin-coated pit
R-HSA-8868071 Clathrin recruits PIK3C2A
R-HSA-8868661 Dynamin-mediated GTP hydrolysis promotes vesicle scission
R-HSA-8868648 SYNJ hydrolyze PI(4,5)P2 to PI(4)P
R-HSA-8871194 RAB5 and GAPVD1 bind AP-2
R-HSA-8868658 HSPA8-mediated ATP hydrolysis promotes vesicle uncoating
R-HSA-8868659 Clathrin recruits auxilins to the clathrin-coated vesicle
R-HSA-8868660 Auxilin recruits HSPA8:ATP to the clathrin-coated vesicle
R-HSA-8867754 F- and N- BAR domain proteins bind the clathrin-coated pit
R-HSA-8868230 SNX9 recruits components of the actin polymerizing machinery
R-HSA-8868072 Clathrin-associated PIK3C2A phosphorylates PI(4)P to PI(3,4)P2
R-HSA-8868236 BAR domain proteins recruit dynamin
R-HSA-8868651 Endophilins recruit synaptojanins to the clathrin-coated pit
R-HSA-380095 Tachykinin receptors bind tachykinins
R-HSA-416476 G alpha (q) signalling events
R-HSA-8856825 Cargo recognition for clathrin-mediated endocytosis
R-HSA-375276 Peptide ligand-binding receptors
R-HSA-388396 GPCR downstream signalling
R-HSA-8856828 Clathrin-mediated endocytosis
R-HSA-373076 Class A/1 (Rhodopsin-like receptors)
R-HSA-372790 Signaling by GPCR
R-HSA-199991 Membrane Trafficking
R-HSA-500792 GPCR ligand binding
R-HSA-162582 Signal Transduction
R-HSA-5653656 Vesicle-mediated transport

-  Other Names for This Gene
  Alternate Gene Symbols: A8K150, NK1R, NK1R_HUMAN, NM_001058, NP_001049, P25103, TAC1R
UCSC ID: uc002sng.2
RefSeq Accession: NM_001058
Protein: P25103 (aka NK1R_HUMAN)
CCDS: CCDS1958.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001058.3
exon count: 5CDS single in 3' UTR: no RNA size: 4795
ORF size: 1224CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 2535.50frame shift in genome: no % Coverage: 99.65
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.