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    NPFF neuropeptide FF-amide peptide precursor [ Homo sapiens (human) ]

    Gene ID: 8620, updated on 2-Nov-2024

    Summary

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    Official Symbol
    NPFFprovided by HGNC
    Official Full Name
    neuropeptide FF-amide peptide precursorprovided by HGNC
    Primary source
    HGNC:HGNC:7901
    See related
    Ensembl:ENSG00000139574 MIM:604643; AllianceGenome:HGNC:7901
    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
    FMRFAL
    Summary
    This gene encodes a member of the FMRFamide related peptide (FARP) family of neuropeptides. The encoded preproprotein is proteolytically processed to generate multiple amidated peptides. These peptides may play a role in the regulation of heart rate and blood pressure and the modulation of morphine-induced antinociception. Patients with hypertension exhibit decreased expression of the encoded protein. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Feb 2016]
    Expression
    Ubiquitous expression in skin (RPKM 3.8), spleen (RPKM 2.1) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See NPFF in Genome Data Viewer
    Location:
    12q13.13
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (53506688..53507484, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (53472693..53473489, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (53900472..53901268, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene poly(rC) binding protein 2 Neighboring gene PCBP2 overlapping transcript 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:53876139-53876652 Neighboring gene mitogen-activated protein kinase kinase kinase 12 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4514 Neighboring gene Sharpr-MPRA regulatory region 1043 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4515 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6423 Neighboring gene Sharpr-MPRA regulatory region 3466 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:53902821-53903053 Neighboring gene ATF7-NPFF readthrough Neighboring gene uncharacterized LOC100652999 Neighboring gene TARBP2 subunit of RISC loading complex Neighboring gene ReSE screen-validated silencer GRCh37_chr12:53909665-53909906 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:53910873-53911372 Neighboring gene activating transcription factor 7 Neighboring gene uncharacterized LOC124902937 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr12:53962840-53963409 Neighboring gene zinc finger protein 337 pseudogene

    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 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?
    1. Renal autocrine neuropeptide FF (NPFF) signaling regulates blood pressure.
      Title: Renal autocrine neuropeptide FF (NPFF) signaling regulates blood pressure.
    2. The distribution of Neuropeptide FF and Neuropeptide VF in central and peripheral tissues and their role in energy homeostasis control.
      Title: The distribution of Neuropeptide FF and Neuropeptide VF in central and peripheral tissues and their role in energy homeostasis control.
    3. Our results...highlight the neuropeptide FF-amide peptide encoding gene (NPFF) as a novel candidate risk gene for both migraine with aura and migraine without aura
      Title: Gene-based pleiotropy across migraine with aura and migraine without aura patient groups.
    4. reduction of NPFF release within the dorsal motor nucleus and ambiguus nucleus could serve as a possible cause of the impairment of cardiac vagal control in hypertensive patients
      Title: Vasopressin (VP) and neuropeptide FF (NPFF) systems in the normal and hypertensive human brainstem.
    5. the findings from the early studies on the analgesic and morphine modulating activities suggested a role for NPFF in pain modulation--review
      Title: Modulatory role of neuropeptide FF system in nociception and opiate analgesia.
    6. expression of hNPFF2 receptor mRNA was up-regulated by neuropeptide FF
      Title: Regulation of endogenous human NPFF2 receptor by neuropeptide FF in SK-N-MC neuroblastoma cell line.
    7. neuropeptide FF and micro-opioid receptor association could be a possible molecular basis for anti-opioid activity
      Title: Physical association between neuropeptide FF and micro-opioid receptors as a possible molecular basis for anti-opioid activity.
    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

    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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    Protein interactions

    Protein Gene Interaction Pubs
    Vif vif HIV-1 Vif upregulates the expression of neuropeptide FF-amide peptide precursor (NPFF) in Vif-expression T cells PubMed

    Go to the HIV-1, Human Interaction Database

    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

    Readthrough ATF7-NPFF

    Readthrough gene: ATF7-NPFF, Included gene: ATF7

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables G protein-coupled receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables neuropeptide activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables neuropeptide hormone activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables signaling receptor binding TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in chemical synaptic transmission TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in excitatory postsynaptic potential IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in neuropeptide signaling pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in axon terminus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in dendrite IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in extracellular region TAS
    Traceable Author Statement
    more info
    		  
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in perikaryon IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in postsynapse IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    pro-FMRFamide-related neuropeptide FF

    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_001320296.2 → NP_001307225.1  pro-FMRFamide-related neuropeptide FF isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) retains an intron compared to variant 1. The encoded isoform (2) is longer, has a distinct N-terminus, and lacks a predicted signal peptide compared to isoform 1.
      Source sequence(s)
      BC035758, BC104234
      UniProtKB/Swiss-Prot
      O15130
      Related
      ENST00000448979.4
      Conserved Domains (1) summary
      pfam15085
      Location:54 → 116
      NPFF; Neuropeptide FF

    2. NM_003717.4 → NP_003708.1  pro-FMRFamide-related neuropeptide FF isoform 1 preproprotein

      See identical proteins and their annotated locations for NP_003708.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the shorter transcript and encodes the shorter isoform (1).
      Source sequence(s)
      AF005271, BC035758
      Consensus CDS
      CCDS8862.1
      UniProtKB/Swiss-Prot
      O15130, Q3SXL4
      Related
      ENSP00000267017.3, ENST00000267017.4
      Conserved Domains (1) summary
      pfam15085
      Location:51 → 113
      NPFF; Neuropeptide FF

    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_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      53506688..53507484 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      53472693..53473489 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O15130.1 GenPept UniProtKB/Swiss-Prot:O15130

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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