Fbxw4 F-box and WD-40 domain protein 4 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Fbxw4provided by MGI
Official Full Name: F-box and WD-40 domain protein 4provided by MGI
Primary source: MGI:MGI:1354698
See related: Ensembl:ENSMUSG00000040913 AllianceGenome:MGI:1354698
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Dac; Fbw4; SHFM3; SHSF3; dactylin; dactylyn
Summary: Acts upstream of or within cartilage development; embryonic digit morphogenesis; and positive regulation of mesenchymal cell proliferation. Predicted to be part of SCF ubiquitin ligase complex. Is expressed in brain; diencephalon roof plate; midbrain ventricular layer; and midbrain-hindbrain junction. Orthologous to human FBXW4 (F-box and WD repeat domain containing 4). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in adrenal adult (RPKM 14.9), ovary adult (RPKM 14.4) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 19 C3; 19 38.75 cM

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	19	NC_000085.7 (45566693..45648954, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	19	NC_000085.6 (45578254..45660520, complement)

Chromosome 19 - NC_000085.7 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: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Dactylaplasia in mouse is not associated with duplication of Fbxw4, in contrast with the described human cases.
Title: Characterization of mouse Dactylaplasia mutations: a model for human ectrodactyly SHFM3.
Both dactylaplasia-related Dac insertions are caused by a type D mouse endogenous provirus (MusD) element, which can be silenced by Mda.
Title: Genetically regulated epigenetic transcriptional activation of retrotransposon insertion confers mouse dactylaplasia phenotype.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (2)
Spontaneous (2) 1 citation
Targeted (2) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Fbxw4 (e-PCR), detects polymorphism
- UniSTS:507972

Gene Ontology Provided by MGI

Process	Evidence Code	Pubs
involved_in SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in Wnt signaling pathway	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within cartilage development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within embryonic digit morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within limb development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within limb development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of mesenchymal cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
part_of SCF ubiquitin ligase complex	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: F-box/WD repeat-containing protein 4

Names: F-box and WD-40 domain-containing protein 4; F-box protein Fbw4; dactylaplasia; protein hagoromo

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_013907.3 → NP_038935.2 F-box/WD repeat-containing protein 4

Status: VALIDATED

Source sequence(s)

AC126454, AC140332

Consensus CDS

CCDS29863.1

RNA

NR_182263.1 RNA Sequence

Status: VALIDATED

Source sequence(s)

AC126454, AC140332

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000085.7 Reference GRCm39 C57BL/6J

Range

45566693..45648954 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006527131.5 → XP_006527194.1 F-box/WD repeat-containing protein 4 isoform X1

Conserved Domains (3) summary

sd00039
Location:303 → 335

7WD40; WD40 repeat [structural motif]

pfam12937
Location:165 → 206

F-box-like

cl29593
Location:294 → 534

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_011247258.4 → XP_011245560.1 F-box/WD repeat-containing protein 4 isoform X2

Conserved Domains (3) summary

sd00039
Location:303 → 335

7WD40; WD40 repeat [structural motif]

pfam12937
Location:165 → 206

F-box-like

cl29593
Location:245 → 460

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_011247261.4 → XP_011245563.1 F-box/WD repeat-containing protein 4 isoform X4

Conserved Domains (2) summary

sd00039
Location:119 → 155

7WD40; WD40 repeat [structural motif]

cl29593
Location:65 → 304

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_011247259.4 → XP_011245561.1 F-box/WD repeat-containing protein 4 isoform X3

Conserved Domains (3) summary

sd00039
Location:303 → 335

7WD40; WD40 repeat [structural motif]

pfam12937
Location:165 → 206

F-box-like

cl29593
Location:291 → 391

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 ...