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

    Gene ID: 6468, updated on 28-Oct-2024

    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
    NEW
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    Genomic context

    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    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)

    NEW Try the new Transcript table

    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_001323541.2NP_001310470.1  F-box/WD repeat-containing protein 4 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC010789, AL627144, AL627424
    2. NM_022039.4NP_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)