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    CCNF cyclin F [ Homo sapiens (human) ]

    Gene ID: 899, updated on 27-Nov-2024

    Summary

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    Official Symbol
    CCNFprovided by HGNC
    Official Full Name
    cyclin Fprovided by HGNC
    Primary source
    HGNC:HGNC:1591
    See related
    Ensembl:ENSG00000162063 MIM:600227; AllianceGenome:HGNC:1591
    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
    FBX1; FBXO1; FTDALS5
    Summary
    This gene encodes a member of the cyclin family. Cyclins are important regulators of cell cycle transitions through their ability to bind and activate cyclin-dependent protein kinases. This member also belongs to the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class and it was one of the first proteins in which the F-box motif was identified. [provided by RefSeq, Jul 2008]
    Expression
    Broad expression in lymph node (RPKM 3.5), bone marrow (RPKM 2.7) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CCNF in Genome Data Viewer
    Location:
    16p13.3
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (2429447..2458854)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (2451862..2480982)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (2479448..2508855)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene ATP binding cassette subfamily A member 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7041 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7042 Neighboring gene ribosomal protein S16 pseudogene 7 Neighboring gene ATP binding cassette subfamily A member 17, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10264 Neighboring gene Sharpr-MPRA regulatory region 3130 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:2450358-2451105 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10265 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:2472691-2473456 Neighboring gene conserved acetylation island sequence C01 enhancer Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:2478509-2479088 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7044 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7045 Neighboring gene uncharacterized LOC105371050 Neighboring gene microRNA 6767 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:2508584-2509398 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10267 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7046 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7047 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7048 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7049 Neighboring gene TEDC2 antisense RNA 1 Neighboring gene microRNA 6768 Neighboring gene tubulin epsilon and delta complex 2

    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. Overexpression of cyclin F/CCNF as an independent prognostic factor for poor survival in clear cell renal cell carcinoma. Kwiatkowski M, et al. Sci Rep, 2024 Apr 23. PMID 38654021, Free PMC Article
    2. A cyclin without cyclin-dependent kinases: cyclin F controls genome stability through ubiquitin-mediated proteolysis. D'Angiolella V, et al. Trends Cell Biol, 2013 Mar. PMID 23182110, Free PMC Article
    3. CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia. Williams KL, et al. Nat Commun, 2016 Apr 15. PMID 27080313, Free PMC Article
    4. Mutations of CCNF gene is rare in patients with amyotrophic lateral sclerosis and frontotemporal dementia from Mainland China. Pan C, et al. Amyotroph Lateral Scler Frontotemporal Degener, 2017 May. PMID 28281833
    5. Investigating CCNF mutations in a Taiwanese cohort with amyotrophic lateral sclerosis. Tsai PC, et al. Neurobiol Aging, 2018 Feb. PMID 29102476

    See all (64) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Cyclin F-EXO1 axis controls cell cycle-dependent execution of double-strand break repair.
      Title: Cyclin F-EXO1 axis controls cell cycle-dependent execution of double-strand break repair.
    2. Overexpression of cyclin F/CCNF as an independent prognostic factor for poor survival in clear cell renal cell carcinoma.
      Title: Overexpression of cyclin F/CCNF as an independent prognostic factor for poor survival in clear cell renal cell carcinoma.
    3. ALS/FTD-associated mutation in cyclin F inhibits ER-Golgi trafficking, inducing ER stress, ERAD and Golgi fragmentation.
      Title: ALS/FTD-associated mutation in cyclin F inhibits ER-Golgi trafficking, inducing ER stress, ERAD and Golgi fragmentation.
    4. Cyclin F, Neurodegeneration, and the Pathogenesis of ALS/FTD.
      Title: Cyclin F, Neurodegeneration, and the Pathogenesis of ALS/FTD.
    5. The E3 Ubiquitin Ligase SCF Cyclin F Promotes Sequestosome-1/p62 Insolubility and Foci Formation and is Dysregulated in ALS and FTD Pathogenesis.
      Title: The E3 Ubiquitin Ligase SCF Cyclin F Promotes Sequestosome-1/p62 Insolubility and Foci Formation and is Dysregulated in ALS and FTD Pathogenesis.
    6. ALS-linked CCNF variant disrupts motor neuron ubiquitin homeostasis.
      Title: ALS-linked CCNF variant disrupts motor neuron ubiquitin homeostasis.
    7. Genetic and Phenotypic Spectrum of Amyotrophic Lateral Sclerosis Patients with CCNF Variants from a Large Chinese Cohort.
      Title: Genetic and Phenotypic Spectrum of Amyotrophic Lateral Sclerosis Patients with CCNF Variants from a Large Chinese Cohort.
    8. The Skp1-Cullin1-FBXO1 complex is a pleiotropic regulator required for the formation of gametes and motile forms in Plasmodium berghei.
      Title: The Skp1-Cullin1-FBXO1 complex is a pleiotropic regulator required for the formation of gametes and motile forms in Plasmodium berghei.
    9. ALS-linked loss of Cyclin-F function affects HSP90.
      Title: ALS-linked loss of Cyclin-F function affects HSP90.
    10. ALS/FTD-causing mutation in cyclin F causes the dysregulation of SFPQ.
      Title: ALS/FTD-causing mutation in cyclin F causes the dysregulation of SFPQ.
    Submit: New GeneRIF Correction See all GeneRIFs (32)

    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

    Associated conditions

    Description Tests
    Frontotemporal dementia and/or amyotrophic lateral sclerosis 5
    MedGen: C5436884 OMIM: 619141 GeneReviews: Not available
    		Compare labs

    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

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables anaphase-promoting complex binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables cyclin-dependent protein serine/threonine kinase regulator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in G1/S transition of mitotic cell cycle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in SCF-dependent proteasomal ubiquitin-dependent protein catabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in cell division IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of centrosome duplication IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in placenta development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein ubiquitination IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in re-entry into mitotic cell cycle IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of cell cycle IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of SCF ubiquitin ligase complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cell junction IDA
    Inferred from Direct Assay
    more info
    		  
    located_in centriole IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
    		  
    part_of cyclin-dependent protein kinase holoenzyme complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    is_active_in microtubule organizing center IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in perinuclear region of cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    cyclin-F
    Names
    F-box only protein 1
    G2/mitotic-specific cyclin-F

    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_001323538.2 → NP_001310467.1  cyclin-F isoform 2

      Status: REVIEWED

      Source sequence(s)
      AB208829, AC106820, BQ009827, HY027359
      UniProtKB/TrEMBL
      Q59HD0

    2. NM_001761.3 → NP_001752.2  cyclin-F isoform 1

      See identical proteins and their annotated locations for NP_001752.2

      Status: REVIEWED

      Source sequence(s)
      AB208829, BC012349, DB523776, Z36714
      Consensus CDS
      CCDS10467.1
      UniProtKB/Swiss-Prot
      B2R8H3, P41002, Q96EG9
      UniProtKB/TrEMBL
      Q59HD0
      Related
      ENSP00000380256.4, ENST00000397066.9
      Conserved Domains (5) summary
      smart00256
      Location:35 → 73
      FBOX; A Receptor for Ubiquitination Targets
      COG0790
      Location:88 → 146
      TPR; TPR repeat [Signal transduction mechanisms]
      sd00010
      Location:88 → 112
      SLR; SLR repeat [structural motif]
      pfam00134
      Location:281 → 406
      Cyclin_N; Cyclin, N-terminal domain
      pfam02984
      Location:421 → 531
      Cyclin_C; Cyclin, C-terminal domain

    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_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      2429447..2458854
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      2451862..2480982
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P41002.2 GenPept UniProtKB/Swiss-Prot:P41002

    Gene LinkOut

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