FBXW5 F-box and WD repeat domain containing 5 [Homo sapiens (human)] - Gene

Summary

Official Symbol: FBXW5provided by HGNC
Official Full Name: F-box and WD repeat domain containing 5provided by HGNC
Primary source: HGNC:HGNC:13613
See related: Ensembl:ENSG00000159069 MIM:609072; AllianceGenome:HGNC:13613
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: Fbw5
Summary: This gene encodes a member of the F-box protein family, members of which are characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into three 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 contains WD-40 domains, in addition to an F-box motif, so it belongs to the Fbw class. Alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene, however, they were found to be nonsense-mediated mRNA decay (NMD) candidates, hence not represented. [provided by RefSeq, Jul 2008]
Expression: Broad expression in testis (RPKM 77.8), colon (RPKM 28.1) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 9q34.3

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (136940435..136944738, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (149174796..149179098, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (139834887..139839190, complement)

Chromosome 9 - NC_000009.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

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?

SCF(Fbxw5) targets kinesin-13 proteins to facilitate ciliogenesis.
Title: SCF(Fbxw5) targets kinesin-13 proteins to facilitate ciliogenesis.
Here, the authors show that the F-box protein FBXW5 targets SEC23B, a component of COPII, for proteasomal degradation and that this event limits the autophagic flux in the presence of nutrients. In response to starvation, ULK1 phosphorylates SEC23B on Serine 186, preventing the interaction of SEC23B with FBXW5 and, therefore, inhibiting SEC23B degradation.
Title: The ULK1-FBXW5-SEC23B nexus controls autophagy.
oxidative stress induces Tnfaip8 l1/Oxi-beta, which results in increased autophagy by its exclusive binding with FBXW5 to stabilize TSC2
Title: Tnfaip8 l1/Oxi-β binds to FBXW5, increasing autophagy through activation of TSC2 in a Parkinson's disease model.
DLC1 was ubiquitinated and degraded by cullin 4A-RING ubiquitin ligase (CRL4A) complex interaction with DDB1 and the FBXW5 substrate receptor.
Title: CRL4A-FBXW5-mediated degradation of DLC1 Rho GTPase-activating protein tumor suppressor promotes non-small cell lung cancer cell growth.
Identify Fbxw5-driven fluctuation of Eps8 levels as an important mechanism that contributes to cell-shape changes during entry into-and exit from-mitosis.
Title: SCFFbxw5 mediates transient degradation of actin remodeller Eps8 to allow proper mitotic progression.
Fbxw5 enhances sumoylation of nuclear c-Myb
Title: Fbxw5 suppresses nuclear c-Myb activity via DDB1-Cul4-Rbx1 ligase-mediated sumoylation.
FBXW5 levels are controlled by the anaphase-promoting (APC/C) complex, which targets FBXW5 for degradation during mitosis and G1, thereby helping to reset the centrosome duplication machinery.
Title: The SCF-FBXW5 E3-ubiquitin ligase is regulated by PLK4 and targets HsSAS-6 to control centrosome duplication.
Observational study of gene-disease association. (HuGE Navigator)
Title: New genetic associations detected in a host response study to hepatitis B vaccine.
These results suggest that FBXW5 negatively regulates TAK1 in the IL-1beta signaling pathway.
Title: An F-box protein, FBXW5, negatively regulates TAK1 MAP3K in the IL-1beta signaling pathway.
Results indicate that FBW5-DDB1-CUL4-ROC1 is an E3 ubiquitin ligase regulating TSC2 protein stability and TSC complex turnover.
Title: WD40 protein FBW5 promotes ubiquitination of tumor suppressor TSC2 by DDB1-CUL4-ROC1 ligase.

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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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase 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 proteasome-mediated ubiquitin-dependent protein catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in protein ubiquitination	IDA Inferred from Direct Assay more info	PubMed
involved_in protein ubiquitination	IEA Inferred from Electronic Annotation more info
involved_in regulation of centrosome duplication	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of mitotic nuclear division	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of Cul4-RING E3 ubiquitin ligase complex	IDA Inferred from Direct Assay more info	PubMed
part_of SCF ubiquitin ligase complex	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info

General protein information

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Preferred Names: F-box/WD repeat-containing protein 5

Names: F-box and WD-40 domain-containing protein 5; WD repeat-containing F-box protein FBW5

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_018998.4 → NP_061871.1 F-box/WD repeat-containing protein 5

See identical proteins and their annotated locations for NP_061871.1

Status: REVIEWED

Source sequence(s)

BC014130, CF132404, DB460097

Consensus CDS

CCDS7014.1

UniProtKB/Swiss-Prot

B2RDZ6, Q59ET5, Q5SPZ8, Q5SPZ9, Q5SQ00, Q5SQ02, Q5SQ03, Q5SQ04, Q8WY79, Q969U6, Q96GJ6, Q9BSU8, Q9H6A8, Q9HBQ6, Q9NSZ3

Related

ENSP00000313034.3, ENST00000325285.8

Conserved Domains (4) summary

smart00320
Location:85 → 120

WD40; WD40 repeats

sd00039
Location:419 → 461

7WD40; WD40 repeat [structural motif]

pfam12937
Location:9 → 50

F-box-like

cl29593
Location:447 → 538

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

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

NC_000009.12 Reference GRCh38.p14 Primary Assembly

Range

136940435..136944738 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017014812.3 → XP_016870301.1 F-box/WD repeat-containing protein 5 isoform X3

Related

ENST00000459905.5
XM_011518789.2 → XP_011517091.1 F-box/WD repeat-containing protein 5 isoform X2

Conserved Domains (5) summary

smart00320
Location:85 → 117

WD40; WD40 repeats

COG2319
Location:387 → 530

WD40; WD40 repeat [General function prediction only]

pfam12937
Location:9 → 52

F-box-like; F-box-like

sd00039
Location:411 → 453

7WD40; WD40 repeat [structural motif]

cl02567
Location:439 → 530

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
XM_005266089.3 → XP_005266146.2 F-box/WD repeat-containing protein 5 isoform X1

Conserved Domains (5) summary

smart00320
Location:85 → 117

WD40; WD40 repeats

COG2319
Location:405 → 548

WD40; WD40 repeat [General function prediction only]

pfam12937
Location:9 → 52

F-box-like; F-box-like

sd00039
Location:429 → 471

7WD40; WD40 repeat [structural motif]

cl02567
Location:457 → 548

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
XM_047423478.1 → XP_047279434.1 F-box/WD repeat-containing protein 5 isoform X5
XM_047423477.1 → XP_047279433.1 F-box/WD repeat-containing protein 5 isoform X4

Alternate T2T-CHM13v2.0

Genomic

NC_060933.1 Alternate T2T-CHM13v2.0

Range

149174796..149179098 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054363120.1 → XP_054219095.1 F-box/WD repeat-containing protein 5 isoform X3
XM_054363119.1 → XP_054219094.1 F-box/WD repeat-containing protein 5 isoform X2
XM_054363118.1 → XP_054219093.1 F-box/WD repeat-containing protein 5 isoform X1
XM_054363122.1 → XP_054219097.1 F-box/WD repeat-containing protein 5 isoform X5
XM_054363121.1 → XP_054219096.1 F-box/WD repeat-containing protein 5 isoform X4

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_178225.1: Suppressed sequence

Description

NM_178225.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
NM_178226.1: Suppressed sequence

Description

NM_178226.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.