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

Gene ID: 64106, updated on 27-Nov-2024

Summary

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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
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Genomic context

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See NPFFR1 in Genome Data Viewer
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_000010.11Genomic Context describing neighboring genes Neighboring gene ribosomal protein S25 pseudogene 9 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:71981496-71981996 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:71981997-71982497 Neighboring gene inorganic pyrophosphatase 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2443 Neighboring gene H3K27me3-DHS negatively-acting regulatory element H2 Neighboring gene Sharpr-MPRA regulatory region 3619 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3499 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:72042967-72043468 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:72051346-72051556 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3500 Neighboring gene leucine rich repeat containing 20 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2444 Neighboring gene Sharpr-MPRA regulatory region 4423 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:72094756-72095256 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3501 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3502 Neighboring gene NANOG hESC enhancer GRCh37_chr10:72128656-72129157 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:72141592-72142211 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2445 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3504 Neighboring gene centrosomal protein 57 like 1 pseudogene 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. The human gonadotropin-inhibitory hormone ortholog RFamide-related peptide-3 suppresses gonadotropin-induced progesterone production in human granulosa cells. Oishi H, et al. Endocrinology, 2012 Jul. PMID 22691551
  2. Developmental changes in the mammalian gonadotropin-inhibitory hormone (GnIH) ortholog RFamide-related peptide (RFRP) and its cognate receptor GPR147 in the rat hypothalamus. Iwasa T, et al. Int J Dev Neurosci, 2012 Feb. PMID 22064075
  3. 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. Lima CJ, et al. J Neuroendocrinol, 2014 Nov. PMID 25180599
  4. Identification of human GnIH homologs, RFRP-1 and RFRP-3, and the cognate receptor, GPR147 in the human hypothalamic pituitary axis. Ubuka T, et al. PLoS One, 2009 Dec 22. PMID 20027225, Free PMC Article
  5. Effects of systematic N-terminus deletions and benzoylations of endogenous RF-amide peptides on NPFF1R, NPFF2R, GPR10, GPR54 and GPR103. Rouméas L, et al. Peptides, 2015 Sep. PMID 26211894

See all (17) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
Submit: New GeneRIF Correction

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ10751

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)

  1. 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

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

    Range
    70247329..70284004 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060934.1 Alternate T2T-CHM13v2.0

    Range
    71116278..71152972 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9GZQ6.1 GenPept UniProtKB/Swiss-Prot:Q9GZQ6

Gene LinkOut

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