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

    Gene ID: 6468, updated on 10-Dec-2024

    Summary

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    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

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    See FBXW4 in Genome Data Viewer
    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_000010.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3912 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3913 Neighboring gene NANOG hESC enhancer GRCh37_chr10:103356755-103357323 Neighboring gene DNA polymerase lambda Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2722 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:103367960-103368675 Neighboring gene deleted in primary ciliary dyskinesia homolog (mouse) Neighboring gene microRNA 3158-1 Neighboring gene microRNA 3158-2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:103371133-103371633 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:103372791-103373324 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:103373325-103373858 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:103378239-103379151 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:103379197-103379698 Neighboring gene RNA, U6 small nuclear 1165, pseudogene Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:103402902-103403748 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:103403749-103404596 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3914 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3915 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2723 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2724 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2725 Neighboring gene long intergenic non-protein coding RNA 3046 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:103483003-103483722 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:103489563-103490062 Neighboring gene uncharacterized LOC105378458 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:103517739-103518240 Neighboring gene VISTA enhancer hs511

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Frequency of genomic rearrangements involving the SHFM3 locus at chromosome 10q24 in syndromic and non-syndromic split-hand/foot malformation. Everman DB, et al. Am J Med Genet A, 2006 Jul 1. PMID 16761290
    2. Evidence for locus heterogeneity in human autosomal dominant split hand/split foot malformation. Palmer SE, et al. Am J Hum Genet, 1994 Jul. PMID 7912888, Free PMC Article
    3. A split hand-split foot (SHFM3) gene is located at 10q24-->25. Gurrieri F, et al. Am J Med Genet, 1996 Apr 24. PMID 8723077
    4. Genomic rearrangement at 10q24 in non-syndromic split-hand/split-foot malformation. Kano H, et al. Hum Genet, 2005 Dec. PMID 16235095
    5. Split hand foot malformation is associated with a reduced level of Dactylin gene expression. Basel D, et al. Clin Genet, 2003 Oct. PMID 12974740

    See all (40) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. 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.
    2. 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.
    3. 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.
    4. 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.
    5. 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.
    Submit: New GeneRIF Correction

    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 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 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

    1. NG_008091.1 RefSeqGene

      Range
      4817..89321
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

      Status: REVIEWED

      Source sequence(s)
      AC010789, AL627144, AL627424

    2. 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

    RNA

    1. NR_136613.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC010789, AL627144, AL627424
      Related
      ENST00000664783.1

    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_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      101610666..101695295 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      102494739..102578296 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P57775.1 GenPept UniProtKB/Swiss-Prot:P57775

    Gene LinkOut

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