FPR1

protein-coding

formyl peptide receptor 1, the group of Formyl peptide receptors

Gene summary

This gene encodes a G protein-coupled receptor of mammalian phagocytic cells that is a member of the G-protein coupled receptor 1 family. The protein mediates the response of phagocytic cells to invasion of the host by microorganisms and is important in host defense and inflammation.[provided by RefSeq, Jul 2010]

MANE transcript

NM_002029.4

Inheritance

ClinVar variants

U:159B:99

Top phenotype

susceptibility to localized juvenile periodontitis

gnomAD constraint

pLI —, LoF o/e —

Max pathogenic AF

—

Genomic locus

chr19:51,745,172-51,804,115

External References & Databases

Ensembl (ENSG00000171051)

Transcript & Mutation Effects

hg38 • Region Span ~58.9 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

susceptibility to localized juvenile periodontitisSUPPORTIVE

Inheritance Pattern: AR

Disease ID:MONDO:0018643

Submitter: Orphanet

Tourette syndromeNO_KNOWN

Inheritance Pattern: Unknown

Disease ID:MONDO:0007661

Submitter: Labcorp Genetics (formerly Invitae)

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to FPR1 variants in ClinVar

6 Conditions Cataloged

Gingival disorderTotal: 239

not specifiedTotal: 39

not providedTotal: 14

FPR1-related disorderTotal: 10

Prostate cancerTotal: 1

PeriodontitisTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_002029.4. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous				84 clinvar	3 clinvar	87
missense			149 clinvar	10 clinvar	2 clinvar	161
nonsense			6 clinvar			6
start loss						0
frameshift			4 clinvar			4
splice donor/acceptor (+/-2bp)						0
Total	0	0	159	94	5	258

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 25 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_002029.4	RefSeq	NP_002020.1	1	MANE Select
ENST00000304748.5	Ensembl	ENSP00000302707.3	1	MANE Select
NM_001193306.2	RefSeq	NP_001180235.1	1	Standard
ENST00000594900.2	Ensembl	ENSP00000470750.2	1	Standard

Model Organisms & Knockout Phenotypes

Observed phenotypic effects in mouse and zebrafish models

Gene / Model	Organism	Observed Phenotype
fpr1	Danio rerio	Structure: neutrophil activation involved in immune response Quality: disrupted abnormal

Gene / Model

Organism

Observed Phenotype

fpr1

Danio rerio

Structure: neutrophil activation involved in immune response

Quality: disrupted

abnormal

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Staphylococcus aureus infection - Homo sapiens (human)
Rap1 signaling pathway - Homo sapiens (human)
Neuroactive ligand-receptor interaction - Homo sapiens (human)
Peptide GPCRs
Human Complement System

Biological Process

activation of MAPK activity
complement receptor mediated signaling pathway
chemotaxis
inflammatory response
signal transduction

Molecular Function

G protein-coupled receptor binding
G protein-coupled receptor activity
N-formyl peptide receptor activity
scavenger receptor binding
protein binding

Cellular Component

plasma membrane
integral component of membrane
secretory granule membrane
azurophil granule membrane
ficolin-1-rich granule membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000595042
Coding exons: 1
Length: 58939

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.552	181	203	0.891	0.0000124	2274
Missense (PolyPhen)		43	51.574	0.83375		677
Synonymous	-1.79	102	81.5	1.25	0.00000530	760
Loss of Function

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0	0.0	absent
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0	0.0	absent
South Asian	0	0.0	absent
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: High affinity receptor for N-formyl-methionyl peptides (fMLP), which are powerful neutrophil chemotactic factors (PubMed:2161213, PubMed:2176894, PubMed:10514456, PubMed:15153520). Binding of fMLP to the receptor stimulates intracellular calcium mobilization and superoxide anion release (PubMed:2161213, PubMed:1712023, PubMed:15153520). This response is mediated via a G-protein that activates a phosphatidylinositol- calcium second messenger system (PubMed:1712023, PubMed:10514456). {ECO:0000269|PubMed:10514456, ECO:0000269|PubMed:15153520, ECO:0000269|PubMed:2161213, ECO:0000269|PubMed:2176894, ECO:0000303|PubMed:10514456, ECO:0000303|PubMed:1712023, ECO:0000303|PubMed:2161213, ECO:0000303|PubMed:2176894}.;

Recessive Scores

pRec: 0.194

Intolerance Scores

LoFtool: 0.570
RVIS EVS: 1.13
RVIS percentile EVS: 92.26

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.165

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium