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

Gene ID: 6468, updated on 23-Nov-2021

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
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
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Genomic context

See FBXW4 in Genome Data Viewer
Location:
10q24.32
Exon count:
12
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (101610664..101695295, complement)
105.20201022 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 DNA polymerase lambda Neighboring gene deleted in primary ciliary dyskinesia homolog (mouse) Neighboring gene microRNA 3158-1 Neighboring gene microRNA 3158-2 Neighboring gene RNA, U6 small nuclear 1165, pseudogene Neighboring gene uncharacterized LOC105378456 Neighboring gene uncharacterized LOC105378455 Neighboring gene uncharacterized LOC105378458 Neighboring gene uncharacterized LOC105378457

Genomic regions, transcripts, and products

Expression

  • Project title: 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

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
part_of SCF ubiquitin ligase complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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)

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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_001323541.2NP_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
    CCDS31271.1
    Related
    ENSP00000359149.3, ENST00000331272.9

RNA

  1. NR_136613.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC010789, AL627144, AL627424

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

    Range
    101610664..101695295 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005270053.3XP_005270110.2  F-box/WD repeat-containing protein 4 isoform X1

    Related
    ENSP00000499522.1, ENST00000664783.1
    Conserved Domains (4) summary
    COG2319
    Location:159426
    WD40; WD40 repeat [General function prediction only]
    pfam12937
    Location:2871
    F-box-like; F-box-like
    sd00039
    Location:206242
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:155414
    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 ...
  2. XM_017016570.2XP_016872059.1  F-box/WD repeat-containing protein 4 isoform X2

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