F2R coagulation factor II thrombin receptor [Homo sapiens (human)] - Gene

Summary

Official Symbol: F2Rprovided by HGNC
Official Full Name: coagulation factor II thrombin receptorprovided by HGNC
Primary source: HGNC:HGNC:3537
See related: Ensembl:ENSG00000181104 MIM:187930; AllianceGenome:HGNC:3537
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: TR; HTR; CF2R; PAR1; PAR-1
Summary: Coagulation factor II receptor is a 7-transmembrane receptor involved in the regulation of thrombotic response. Proteolytic cleavage leads to the activation of the receptor. F2R is a G-protein coupled receptor family member. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]
Expression: Ubiquitous expression in spleen (RPKM 37.1), gall bladder (RPKM 26.8) and 21 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 5q13.3

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (76716126..76735770)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (77198009..77217657)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (76011951..76031595)

Chromosome 5 - NC_000005.10 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
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?

KLK10 promotes the progression of KRAS mutant colorectal cancer via PAR1-PDK1-AKT signaling pathway.
Title: KLK10 promotes the progression of KRAS mutant colorectal cancer via PAR1-PDK1-AKT signaling pathway.
Thrombomodulin Switches Signaling and Protease-Activated Receptor 1 Cleavage Specificity of Thrombin.
Title: Thrombomodulin Switches Signaling and Protease-Activated Receptor 1 Cleavage Specificity of Thrombin.
Thrombin receptor PAR1 silencing in endothelial colony-forming cells modifies stemness and vasculogenic properties.
Title: Thrombin receptor PAR1 silencing in endothelial colony-forming cells modifies stemness and vasculogenic properties.
Protease-Activated Receptor 1-Mediated Damage of Podocytes in Diabetic Nephropathy.
Title: Protease-Activated Receptor 1-Mediated Damage of Podocytes in Diabetic Nephropathy.
PAR1 regulates sepsis-induced vascular endothelial barrier dysfunction by mediating ERM phosphorylation via the RhoA/ROCK signaling pathway.
Title: PAR1 regulates sepsis-induced vascular endothelial barrier dysfunction by mediating ERM phosphorylation via the RhoA/ROCK signaling pathway.
Protease-Activated Receptor 1 (PAR1) Expression Contributes to HPV-Associated Oropharyngeal Cancer Prognosis.
Title: Protease-Activated Receptor 1 (PAR1) Expression Contributes to HPV-Associated Oropharyngeal Cancer Prognosis.
Stage lighting on PAR-1: a step further in the understanding of acquired focal and segmental glomerulosclerosis.
Title: Stage lighting on PAR-1: a step further in the understanding of acquired focal and segmental glomerulosclerosis.
Elevated serum PAR-1 levels as an emerging biomarker of inflammation to predict the dengue infection severity.
Title: Elevated serum PAR-1 levels as an emerging biomarker of inflammation to predict the dengue infection severity.
Serum protease-activated receptor (PAR-1) levels as a potential biomarker for diagnosis of inflammation in type 2 diabetic patients.
Title: Serum protease-activated receptor (PAR-1) levels as a potential biomarker for diagnosis of inflammation in type 2 diabetic patients.
Associations of CYP2C19 and F2R genetic polymorphisms with platelet reactivity in Chinese ischemic stroke patients receiving clopidogrel therapy.
Title: Associations of CYP2C19 and F2R genetic polymorphisms with platelet reactivity in Chinese ischemic stroke patients receiving clopidogrel therapy.

Submit: New GeneRIF Correction See all GeneRIFs (331)

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
New gene functions in megakaryopoiesis and platelet formation. 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)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
HIV-1 infectivity is decreased by F2R (PAR1), but not F2R (PAR1) mutant R46A, overexpression in the virus producing cells (HEK293T)	PubMed

Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp160, precursor	env	HIV-1 (HXBC2) gp160 furin-mediated processing is inhibited by F2R (PAR1) whilst F2R (PAR1) K46A does not (in COS-1 and HEK293T cells), indicating amino acid residue F2R Arg46 as critical for the inhibitory effect	PubMed
Envelope transmembrane glycoprotein gp41	env	HIV-1 gp160 furin-mediated processing to gp41 is inhibited by PAR1 in cells (COS-1 and HEK293T) overexpressing F2R	PubMed
Vpr	vpr	F2R (PAR1) DOES NOT block processing of Vpr by soluble PCSK6 (PACE4)	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

PMC98608P1 (e-PCR)
- UniSTS:273676

D8S2279 (e-PCR)
- UniSTS:473907

WI-14632 (e-PCR)
- UniSTS:7478

STS-N35000 (e-PCR)
- UniSTS:65770

D11S3316 (e-PCR)
- UniSTS:152558

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables G protein-coupled receptor activity	ISS Inferred from Sequence or Structural Similarity more info
enables G protein-coupled receptor activity	TAS Traceable Author Statement more info	PubMed
enables G-protein alpha-subunit binding	ISS Inferred from Sequence or Structural Similarity more info
enables G-protein beta-subunit binding	ISS Inferred from Sequence or Structural Similarity more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables signaling receptor binding	IPI Inferred from Physical Interaction more info	PubMed
enables thrombin-activated receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables thrombin-activated receptor activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in G protein-coupled receptor signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in activation of cysteine-type endopeptidase activity involved in apoptotic process	IDA Inferred from Direct Assay more info	PubMed
involved_in anatomical structure morphogenesis	TAS Traceable Author Statement more info	PubMed
involved_in cell-cell junction maintenance	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in connective tissue replacement involved in inflammatory response wound healing	IDA Inferred from Direct Assay more info	PubMed
involved_in dendritic cell homeostasis	IEA Inferred from Electronic Annotation more info
involved_in establishment of synaptic specificity at neuromuscular junction	ISS Inferred from Sequence or Structural Similarity more info
involved_in homeostasis of number of cells within a tissue	ISS Inferred from Sequence or Structural Similarity more info
involved_in inflammatory response	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of cell population proliferation	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of glomerular filtration	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of neuron apoptotic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of renin secretion into blood stream	ISS Inferred from Sequence or Structural Similarity more info
involved_in phospholipase C-activating G protein-coupled receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in phospholipase C-activating G protein-coupled receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in phospholipase C-activating G protein-coupled receptor signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in platelet activation	IDA Inferred from Direct Assay more info	PubMed
involved_in platelet dense granule organization	IC Inferred by Curator more info	PubMed
involved_in positive regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of ERK1 and ERK2 cascade	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of GTPase activity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of MAPK cascade	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of Rho protein signal transduction	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of Rho protein signal transduction	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of blood coagulation	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of blood coagulation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of calcium ion transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of canonical NF-kappaB signal transduction	IEP Inferred from Expression Pattern more info	PubMed
involved_in positive regulation of cell migration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of cell population proliferation	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of collagen biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of cysteine-type endopeptidase activity involved in apoptotic process	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of cytosolic calcium ion concentration	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of interleukin-6 production	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of interleukin-8 production	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of receptor signaling pathway via JAK-STAT	NAS Non-traceable Author Statement more info	PubMed
involved_in positive regulation of release of sequestered calcium ion into cytosol	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of smooth muscle contraction	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of vasoconstriction	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein kinase C-activating G protein-coupled receptor signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of blood coagulation	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of interleukin-1 beta production	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of sensory perception of pain	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of synaptic plasticity	ISS Inferred from Sequence or Structural Similarity more info
involved_in release of sequestered calcium ion into cytosol	ISS Inferred from Sequence or Structural Similarity more info
involved_in response to lipopolysaccharide	ISS Inferred from Sequence or Structural Similarity more info
involved_in response to wounding	IDA Inferred from Direct Assay more info	PubMed
involved_in thrombin-activated receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in trans-synaptic signaling by endocannabinoid, modulating synaptic transmission	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in Golgi apparatus	TAS Traceable Author Statement more info	PubMed
located_in caveola	IDA Inferred from Direct Assay more info	PubMed
located_in cell surface	IDA Inferred from Direct Assay more info	PubMed
located_in early endosome	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
located_in late endosome	IDA Inferred from Direct Assay more info	PubMed
located_in neuromuscular junction	ISS Inferred from Sequence or Structural Similarity 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 platelet dense tubular network	IDA Inferred from Direct Assay more info	PubMed
located_in postsynaptic membrane	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: proteinase-activated receptor 1

Names: protease-activated receptor 1

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_032906.1 RefSeqGene

Range

5084..24728

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_641

mRNA and Protein(s)

NM_001311313.2 → NP_001298242.1 proteinase-activated receptor 1 isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation from a downstream start codon, compared to variant 1. It encodes isoform 2, which is shorter at the N-terminus, compared to isoform 1.

Source sequence(s)

AK308169, BC051909, BM994328, DA799420

UniProtKB/TrEMBL

B4DLS3

Conserved Domains (2) summary

cd14964
Location:17 → 38

7tm_GPCRs; TM helix 2 [structural motif]

cl28897
Location:1 → 261

7tm_GPCRs; seven-transmembrane G protein-coupled receptor superfamily
NM_001992.5 → NP_001983.2 proteinase-activated receptor 1 isoform 1 precursor

See identical proteins and their annotated locations for NP_001983.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the shorter transcript and encodes the longer isoform (1).

Source sequence(s)

BC051909, BM994328

Consensus CDS

CCDS4032.1

UniProtKB/Swiss-Prot

P25116, Q53XV0, Q96RF7, Q9BUN4

Related

ENSP00000321326.4, ENST00000319211.5

Conserved Domains (1) summary

pfam00001
Location:120 → 371

7tm_1; 7 transmembrane receptor (rhodopsin family)