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    flcn folliculin [ Danio rerio (zebrafish) ]

    Gene ID: 678628, updated on 9-Dec-2024

    Summary

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    Official Symbol
    flcnprovided by ZNC
    Official Full Name
    folliculinprovided by ZNC
    Primary source
    ZFIN:ZDB-GENE-060421-3470
    See related
    Ensembl:ENSDARG00000062385 AllianceGenome:ZFIN:ZDB-GENE-060421-3470
    Gene type
    protein coding
    RefSeq status
    PROVISIONAL
    Organism
    Danio rerio
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
    Also known as
    wu:fe38g11; zgc:136982
    Summary
    Predicted to contribute to GTPase activator activity. Predicted to be involved in negative regulation of transcription by RNA polymerase II; positive regulation of TORC1 signaling; and positive regulation of transforming growth factor beta receptor signaling pathway. Predicted to be located in several cellular components, including cilium; lysosomal membrane; and microtubule cytoskeleton. Predicted to be active in cytosol. Is expressed in brain; hatching gland; pectoral fin bud; retina; and tail bud. Used to study Birt-Hogg-Dube syndrome. Human ortholog(s) of this gene implicated in Birt-Hogg-Dube syndrome; colorectal cancer; primary spontaneous pneumothorax; and renal cell carcinoma. Orthologous to human FLCN (folliculin). [provided by Alliance of Genome Resources, Dec 2024]
    Orthologs
    human mouse all
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    Genomic context

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    See flcn in Genome Data Viewer
    Location:
    chromosome: 16
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCz11 (GCF_000002035.6) 16 NC_007127.7 (13818529..13846001)
    105 previous assembly GRCz10 (GCF_000002035.5) 16 NC_007127.6 (13928380..13955881)

    Chromosome 16 - NC_007127.7Genomic Context describing neighboring genes Neighboring gene tweety family member 1 Neighboring gene leukocyte receptor cluster (LRC) member 9 Neighboring gene zgc:174888 Neighboring gene glutamate-rich WD repeat containing 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
    • Description: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
    • BioProject: PRJEB1986
    • Analysis date: Fri Dec 8 19:48:10 2017

    Bibliography

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    Related articles in PubMed

    1. BHD mutations, clinical and molecular genetic investigations of Birt-Hogg-Dubé syndrome: a new series of 50 families and a review of published reports. Toro JR, et al. J Med Genet, 2008 Jun. PMID 18234728, Free PMC Article
    2. Expression and knockdown of zebrafish folliculin suggests requirement for embryonic brain morphogenesis. Kenyon EJ, et al. BMC Dev Biol, 2016 Jul 8. PMID 27391801, Free PMC Article
    3. The KEAP1-NRF2 pathway regulates TFEB/TFE3-dependent lysosomal biogenesis. Ong AJS, et al. Proc Natl Acad Sci U S A, 2023 May 30. PMID 37216554, Free PMC Article
    4. AMPK promotes induction of the tumor suppressor FLCN through activation of TFEB independently of mTOR. Collodet C, et al. FASEB J, 2019 Nov. PMID 31404503, Free PMC Article
    5. A lysosomal regulatory circuit essential for the development and function of microglia. Iyer H, et al. Sci Adv, 2022 Sep 2. PMID 36044568, Free PMC Article

    See all (8) citations in PubMed

    GeneRIFs: Gene References Into Functions

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC136982

    Gene Ontology Provided by ZFIN

    Function Evidence Code Pubs
    contributes_to GTPase activator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables GTPase activator activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in negative regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of TORC1 signaling IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of transforming growth factor beta receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in cell projection IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in centrosome IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cilium IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in lysosomal membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in lysosome IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in spindle IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    folliculin
    NP_001035463.1
    XP_005157956.1

    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_001040373.1 → NP_001035463.1  folliculin

      See identical proteins and their annotated locations for NP_001035463.1

      Status: PROVISIONAL

      Source sequence(s)
      BC115356
      UniProtKB/TrEMBL
      Q1RLN8
      Related
      ENSDARP00000084624.4, ENSDART00000090191.6
      Conserved Domains (2) summary
      pfam11704
      Location:93 → 253
      Folliculin; Vesicle coat protein involved in Golgi to plasma membrane transport
      pfam16692
      Location:329 → 543
      Folliculin_C; Folliculin C-terminal domain

    RefSeqs of Annotated Genomes: GCF_000002035.6-RS_2024_08

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

    Reference GRCz11 Primary Assembly

    Genomic

    1. NC_007127.7 Reference GRCz11 Primary Assembly

      Range
      13818529..13846001
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005157899.4 → XP_005157956.1  folliculin isoform X1

      UniProtKB/TrEMBL
      A0A8M2B4W4, F1R3E5
      Related
      ENSDARP00000133243.1, ENSDART00000163251.3
      Conserved Domains (2) summary
      pfam11704
      Location:93 → 253
      Folliculin; Vesicle coat protein involved in Golgi to plasma membrane transport
      pfam16692
      Location:329 → 543
      Folliculin_C; Folliculin C-terminal domain

    Reference GRCz11 ALT_DRER_TU_1

    Genomic

    1. NW_018394957.1 Reference GRCz11 ALT_DRER_TU_1

      Range
      340243..367497
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version

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