NPFFR1 neuropeptide FF receptor 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: NPFFR1provided by HGNC
Official Full Name: neuropeptide FF receptor 1provided by HGNC
Primary source: HGNC:HGNC:17425
See related: Ensembl:ENSG00000148734 MIM:607448; AllianceGenome:HGNC:17425
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: NPFF1; GPR147; NPFF1R1; OT7T022
Summary: Enables neuropeptide receptor activity. Involved in neuropeptide signaling pathway. Located in cilium. Is active in plasma membrane. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Low expression observed in reference dataset See more
Orthologs: mouse all
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Genomic context

Location:: 10q22.1

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (70247329..70284004, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (71116278..71152972, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (72007085..72043760, complement)

Chromosome 10 - NC_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

Effects of systematic N-terminus deletions and benzoylations of endogenous RF-amide peptides on NPFF1R, NPFF2R, GPR10, GPR54 and GPR103.
Title: Effects of systematic N-terminus deletions and benzoylations of endogenous RF-amide peptides on NPFF1R, NPFF2R, GPR10, GPR54 and GPR103.
RFRP-3/GPR147 may play secondary, modulatory roles on the regulation of pubertal development; a restraining modulatory effect of the NPVF p.I71_K72 variant on the activation of the gonadotrophic axis cannot be ruled out
Title: Mutational analysis of the genes encoding RFamide-related peptide-3, the human orthologue of gonadotrophin-inhibitory hormone, and its receptor (GPR147) in patients with gonadotrophin-releasing hormone-dependent pubertal disorders.
ovarian RFRP-3/GPR147 signaling could contribute to normal ovarian function
Title: The human gonadotropin-inhibitory hormone ortholog RFamide-related peptide-3 suppresses gonadotropin-induced progesterone production in human granulosa cells.
In male rats, mRNA expressions of both RFRP and GPR147 increases from postnatal days 12 and 16; mRNA expression of GPR147 in female rats increases from postnatal day 16, peaking at postnatal day 28 and decreasing from postnatal day 35.
Title: Developmental changes in the mammalian gonadotropin-inhibitory hormone (GnIH) ortholog RFamide-related peptide (RFRP) and its cognate receptor GPR147 in the rat hypothalamus.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
GnIH homologs in the human hypothalamus and were identified and human GnIH receptor (GPR147) mRNA expression in the hypothalamus as well as in the pituitary, was characterized.
Title: Identification of human GnIH homologs, RFRP-1 and RFRP-3, and the cognate receptor, GPR147 in the human hypothalamic pituitary axis.
Observational study of gene-disease association. (HuGE Navigator)
Title: A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.

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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 association study identifies germline polymorphisms associated with relapse of childhood acute lymphoblastic leukemia. 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

NoName (e-PCR)
- UniSTS:481811

G62960 (e-PCR)
- UniSTS:139935

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables G protein-coupled receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables G protein-coupled receptor activity	NAS Non-traceable Author Statement more info	PubMed
enables neuropeptide receptor activity	IDA Inferred from Direct Assay more info	PubMed
enables neuropeptide receptor activity	ISS Inferred from Sequence or Structural Similarity more info
enables neuropeptide receptor activity	NAS Non-traceable Author Statement more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in G protein-coupled receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in cellular response to hormone stimulus	IBA Inferred from Biological aspect of Ancestor more info
involved_in neuropeptide signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in neuropeptide signaling pathway	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in cilium	IDA Inferred from Direct Assay more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
is_active_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: neuropeptide FF receptor 1

Names: G-protein coupled receptor 147; RFamide-related peptide receptor OT7T022; neuropeptide FF 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.

mRNA and Protein(s)

NM_022146.5 → NP_071429.1 neuropeptide FF receptor 1

See identical proteins and their annotated locations for NP_071429.1

Status: VALIDATED

Source sequence(s)

AL355138, EU432128

Consensus CDS

CCDS53539.1

UniProtKB/Swiss-Prot

A2RRF0, Q8NGR0, Q96RN3, Q9GZQ6

Related

ENSP00000277942.5, ENST00000277942.7

Conserved Domains (2) summary

cd14964
Location:46 → 70

7tm_GPCRs; TM helix 1 [structural motif]

cl28897
Location:44 → 340

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