NPFFR1

protein-coding

neuropeptide FF receptor 1, the group of Neuropeptide FF receptors

Gene summary

Enables neuropeptide receptor activity. Involved in neuropeptide signaling pathway. Located in cilium. Is active in plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]

Previous symbols:

GPR147

MANE transcript

NM_022146.5

Inheritance

—

ClinVar variants

U:73B:9

Top phenotype

EBV-positive nodal T- and NK-cell lymphoma

gnomAD constraint

pLI —, LoF o/e 1.49

Max pathogenic AF

—

Genomic locus

chr10:70,247,329-70,284,004

External References & Databases

Ensembl (ENSG00000148734)

Transcript & Mutation Effects

hg38 • Region Span ~36.7 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to NPFFR1 variants in ClinVar

3 Conditions Cataloged

not specifiedTotal: 73

not providedTotal: 5

EBV-positive nodal T- and NK-cell lymphomaTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_022146.5. 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				1 clinvar	2 clinvar	3
missense			71 clinvar	5 clinvar	1 clinvar	77
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			2 clinvar			2
Total	0	0	73	6	3	82

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 3 of 3 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_022146.5	RefSeq	NP_071429.1	4	MANE Select
ENST00000277942.7	Ensembl	ENSP00000277942.5	4	MANE Select
ENST00001142068.1	Ensembl	ENSP00000804304.1	4	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Neuroactive ligand-receptor interaction - Homo sapiens (human)
GPCRs, Class A Rhodopsin-like
Signaling by GPCR
Signal Transduction
Orexin and neuropeptides FF and QRFP bind to their respective receptors

Biological Process

G protein-coupled receptor signaling pathway
neuropeptide signaling pathway
biological_process
cellular response to hormone stimulus

Molecular Function

G protein-coupled receptor activity
neuropeptide receptor activity

Cellular Component

plasma membrane
integral component of plasma membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000277942
Coding exons: 4
Length: 36348
Individuals with no LoFs: 124227
Homozygous LoFs: 0
Heterozygous LoFs: 586
Defined: 124813
p: 0.00235

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.48	202	270	0.747	0.0000176	2717
Missense (PolyPhen)		67	99.789	0.67141		1085
Synonymous	1.62	100	123	0.814	0.00000854	917
Loss of Function	-1.57	18	12.1	1.49	5.61e-7	122

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00085	0.00083	rare
Latino/Admixed American	0.0020	0.0019	notable
Ashkenazi Jewish	0.0013	0.0012	notable
East Asian	0.00053	0.00050	rare
Finnish	0.00052	0.00051	rare
European (Non-Finnish)	0.0041	0.0040	notable
South Asian	0.00013	0.00013	rare
Other	0.0029	0.0028	notable

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Receptor for NPAF (A-18-F-amide) and NPFF (F-8-F-amide) neuropeptides, also known as morphine-modulating peptides. Can also be activated by a variety of naturally occurring or synthetic FMRF-amide like ligands. This receptor mediates its action by association with G proteins that activate a phosphatidylinositol- calcium second messenger system.;

Recessive Scores

pRec: 0.105

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.196

Gene Damage Prediction

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