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CCNF cyclin F [ Homo sapiens (human) ]

Gene ID: 899, updated on 2-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
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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 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
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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

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