CCNF cyclin F [Homo sapiens (human)] - Gene

Summary

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

Location:: 16p13.3

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (2429447..2458854)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (2451862..2480982)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (2479448..2508855)

Chromosome 16 - NC_000016.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
Cyclin F, Neurodegeneration, and the Pathogenesis of ALS/FTD.
Title: Cyclin F, Neurodegeneration, and the Pathogenesis of ALS/FTD.
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.
ALS-linked CCNF variant disrupts motor neuron ubiquitin homeostasis.
Title: ALS-linked CCNF variant disrupts motor neuron ubiquitin homeostasis.
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.
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.
ALS-linked loss of Cyclin-F function affects HSP90.
Title: ALS-linked loss of Cyclin-F function affects HSP90.
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.
Increased expression of Cyclin F in liver cancer predicts poor prognosis: A study based on TCGA database.
Title: Increased expression of Cyclin F in liver cancer predicts poor prognosis: A study based on TCGA database.
Pathogenic mutations in the ALS gene CCNF cause cytoplasmic mislocalization of Cyclin F and elevated VCP ATPase activity
Title: Pathogenic mutations in the ALS gene CCNF cause cytoplasmic mislocalization of Cyclin F and elevated VCP ATPase activity.

Submit: New GeneRIF Correction See all GeneRIFs (30)

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

GDB:335751 (e-PCR)
- UniSTS:156601

SHGC-12618 (e-PCR)
- UniSTS:86758

RH98649 (e-PCR)
- UniSTS:84730

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 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 mitotic cell cycle phase transition	IBA Inferred from Biological aspect of Ancestor 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
involved_in regulation of cyclin-dependent protein serine/threonine kinase activity	IBA Inferred from Biological aspect of Ancestor more info

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
is_active_in centrosome	IBA Inferred from Biological aspect of Ancestor more info
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 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)

NM_001323538.2 → NP_001310467.1 cyclin-F isoform 2

Status: REVIEWED

Source sequence(s)

AB208829, AC106820, BQ009827, HY027359

UniProtKB/TrEMBL

Q59HD0
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