FBXW4 F-box and WD repeat domain containing 4 [Homo sapiens (human)] - Gene

Summary

Official Symbol: FBXW4provided by HGNC
Official Full Name: F-box and WD repeat domain containing 4provided by HGNC
Primary source: HGNC:HGNC:10847
See related: Ensembl:ENSG00000107829 MIM:608071; AllianceGenome:HGNC:10847
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: DAC; FBW4; FBWD4; SHFM3; SHSF3
Summary: This gene is a member of the F-box/WD-40 gene family, which recruit specific target proteins through their WD-40 protein-protein binding domains for ubiquitin mediated degradation. In mouse, a highly similar protein is thought to be responsible for maintaining the apical ectodermal ridge of developing limb buds; disruption of the mouse gene results in the absence of central digits, underdeveloped or absent metacarpal/metatarsal bones and syndactyly. This phenotype is remarkably similar to split hand-split foot malformation in humans, a clinically heterogeneous condition with a variety of modes of transmission. An autosomal recessive form has been mapped to the chromosomal region where this gene is located, and complex rearrangements involving duplications of this gene and others have been associated with the condition. A pseudogene of this locus has been mapped to one of the introns of the BCR gene on chromosome 22. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in fat (RPKM 17.7), lung (RPKM 17.4) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 10q24.32

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (101610666..101695295, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (102494739..102578296, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (103370423..103455052, complement)

Chromosome 10 - NC_000010.11 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?

CircFBXW4 Suppresses Colorectal Cancer Progression by Regulating the MiR-338-5p/SLC5A7 Axis.
Title: CircFBXW4 Suppresses Colorectal Cancer Progression by Regulating the MiR-338-5p/SLC5A7 Axis.
biochemical characterization of the novel F-box and WD40 containing protein, FBXW4
Title: The novel ubiquitin ligase complex, SCF(Fbxw4), interacts with the COP9 signalosome in an F-box dependent manner, is mutated, lost and under-expressed in human cancers.
results indicate that genomic rearrangement of SHFM3 is rare among non-syndromic SHFM patients and emphasize the importance of screening for genomic rearrangements even in sporadic cases of SHFM
Title: Genomic rearrangement at 10q24 in non-syndromic split-hand/split-foot malformation.
Genomic rearrangements involving the SHFM3 locus at chromosome 10q24 is associated with syndromic and non-syndromic split-hand/foot malformation
Title: Frequency of genomic rearrangements involving the SHFM3 locus at chromosome 10q24 in syndromic and non-syndromic split-hand/foot malformation.
a complex rearrangement associated with a approximately 0.5 Mb tandem duplication ion containing a disrupted extra copy of the DACTYLIN gene and the entire LBX1 and beta-TRCP genes.
Title: A genomic rearrangement resulting in a tandem duplication is associated with split hand-split foot malformation 3 (SHFM3) at 10q24.

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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

Copy number response

Description
Copy number response Haploinsufficency No evidence available (Last evaluated 2014-10-08) ClinGen Genome Curation Page Triplosensitivity No evidence available (Last evaluated 2014-10-08) ClinGen Genome Curation Page

Variation

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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

RH11197 (e-PCR)
- UniSTS:83988

SHGC-32623 (e-PCR)
- UniSTS:42613

G65567 (e-PCR)
- UniSTS:225410

RH118906 (e-PCR)
- UniSTS:138898

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
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	IBA Inferred from Biological aspect of Ancestor more info
involved_in Wnt signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in embryonic limb morphogenesis	NAS Non-traceable Author Statement more info	PubMed
involved_in ubiquitin-dependent protein catabolic process	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
part_of SCF ubiquitin ligase complex	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	TAS Traceable Author Statement more info
part_of ubiquitin ligase complex	NAS Non-traceable Author Statement more info	PubMed

General protein information

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

Names: F-box and WD-40 domain protein 4; F-box and WD-40 domain-containing protein 4; F-box/WD repeat protein 4; dactylin; epididymis secretory sperm binding protein

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.

Genomic

NG_008091.1 RefSeqGene

Range

4817..89321

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001323541.2 → NP_001310470.1 F-box/WD repeat-containing protein 4 isoform 2

Status: REVIEWED

Source sequence(s)

AC010789, AL627144, AL627424
NM_022039.4 → NP_071322.2 F-box/WD repeat-containing protein 4 isoform 1

Status: REVIEWED

Source sequence(s)

AF281859

Consensus CDS

CCDS31271.2

UniProtKB/TrEMBL

A0A5F9UQ55

Related

ENSP00000359149.3, ENST00000331272.9