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'''F-box/WD repeat-containing protein 4''' is a [[protein]] that in humans is encoded by the ''FBXW4'' [[gene]].<ref name="pmid8723077">{{cite journal | vauthors = Gurrieri F, Prinos P, Tackels D, Kilpatrick MW, Allanson J, Genuardi M, Vuckov A, Nanni L, Sangiorgi E, Garofalo G, Nunes ME, Neri G, Schwartz C, Tsipouras P | title = A split hand-split foot (SHFM3) gene is located at 10q24-->25 | journal = Am J Med Genet | volume = 62 | issue = 4 | pages = 427–36 |date=Oct 1996 | pmid = 8723077 | pmc = | doi = 10.1002/(SICI)1096-8628(19960424)62:4<427::AID-AJMG16>3.0.CO;2-Q }}</ref><ref name="pmid7912888">{{cite journal | vauthors = Palmer SE, Scherer SW, Kukolich M, Wijsman EM, Tsui LC, Stephens K, Evans JP | title = Evidence for locus heterogeneity in human autosomal dominant split hand/split foot malformation | journal = Am J Hum Genet | volume = 55 | issue = 1 | pages = 21–6 |date=Jul 1994 | pmid = 7912888 | pmc = 1918225 | doi =  }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: FBXW4 F-box and WD repeat domain containing 4| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6468| accessdate = }}</ref>
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<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
{{GNF_Protein_box
| image = 
| image_source = 
| PDB =
| Name = F-box and WD repeat domain containing 4
| HGNCid = 10847
| Symbol = FBXW4
| AltSymbols =; DAC; FBW4; FBWD4; SHFM3; SHSF3
| OMIM = 608071
| ECnumber = 
| Homologene = 32197
| MGIid = 1354698
| GeneAtlas_image1 = PBB_GE_FBXW4_221519_at_tn.png
| Function = {{GNF_GO|id=GO:0003674 |text = molecular_function}}
| Component = {{GNF_GO|id=GO:0000151 |text = ubiquitin ligase complex}}
| Process = {{GNF_GO|id=GO:0006511 |text = ubiquitin-dependent protein catabolic process}} {{GNF_GO|id=GO:0006512 |text = ubiquitin cycle}} {{GNF_GO|id=GO:0007275 |text = multicellular organismal development}} {{GNF_GO|id=GO:0016055 |text = Wnt receptor signaling pathway}} {{GNF_GO|id=GO:0030326 |text = embryonic limb morphogenesis}}  
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 6468
    | Hs_Ensembl = ENSG00000107829
    | Hs_RefseqProtein = NP_071322
    | Hs_RefseqmRNA = NM_022039
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 10
    | Hs_GenLoc_start = 103360413
    | Hs_GenLoc_end = 103445006
    | Hs_Uniprot = P57775
    | Mm_EntrezGene = 30838
    | Mm_Ensembl = ENSMUSG00000040913
    | Mm_RefseqmRNA = NM_013907
    | Mm_RefseqProtein = NP_038935
    | Mm_GenLoc_db =   
    | Mm_GenLoc_chr = 19
    | Mm_GenLoc_start = 45631568
    | Mm_GenLoc_end = 45713504
    | Mm_Uniprot = Q9JMJ2
  }}
}}
'''F-box and WD repeat domain containing 4''', also known as '''FBXW4''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: FBXW4 F-box and WD repeat domain containing 4| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6468| accessdate = }}</ref>


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| section_title =  
| summary_text = 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.<ref name="entrez">{{cite web | title = Entrez Gene: FBXW4 F-box and WD repeat domain containing 4| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6468| accessdate = }}</ref>
| summary_text = 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.<ref name="entrez">{{cite web | title = Entrez Gene: FBXW4 F-box and WD repeat domain containing 4| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6468| accessdate = }}</ref>
}}
}}


==References==
==References==
{{reflist|2}}
{{reflist}}
 
==Further reading==
==Further reading==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading  
{{PBB_Further_reading  
| citations =  
| citations =  
*{{cite journal  | author=Palmer SE, Scherer SW, Kukolich M, ''et al.'' |title=Evidence for locus heterogeneity in human autosomal dominant split hand/split foot malformation. |journal=Am. J. Hum. Genet. |volume=55 |issue= 1 |pages= 21-6 |year= 1994 |pmid= 7912888 |doi=  }}
*{{cite journal  | vauthors=Ianakiev P, Kilpatrick MW, Dealy C |title=A novel human gene encoding an F-box/WD40 containing protein maps in the SHFM3 critical region on 10q24. |journal=Biochem. Biophys. Res. Commun. |volume=261 |issue= 1 |pages= 64–70 |year= 1999 |pmid= 10405324 |doi= 10.1006/bbrc.1999.0963 |display-authors=etal}}
*{{cite journal  | author=Gurrieri F, Prinos P, Tackels D, ''et al.'' |title=A split hand-split foot (SHFM3) gene is located at 10q24-->25. |journal=Am. J. Med. Genet. |volume=62 |issue= 4 |pages= 427-36 |year= 1996 |pmid= 8723077 |doi= 10.1002/(SICI)1096-8628(19960424)62:4<427::AID-AJMG16>3.0.CO;2-Q }}
*{{cite journal  | vauthors=Ilyin GP, Rialland M, Pigeon C, Guguen-Guillouzo C |title=cDNA cloning and expression analysis of new members of the mammalian F-box protein family. |journal=Genomics |volume=67 |issue= 1 |pages= 40–7 |year= 2001 |pmid= 10945468 |doi= 10.1006/geno.2000.6211 }}
*{{cite journal  | author=Ianakiev P, Kilpatrick MW, Dealy C, ''et al.'' |title=A novel human gene encoding an F-box/WD40 containing protein maps in the SHFM3 critical region on 10q24. |journal=Biochem. Biophys. Res. Commun. |volume=261 |issue= 1 |pages= 64-70 |year= 1999 |pmid= 10405324 |doi= 10.1006/bbrc.1999.0963 }}
*{{cite journal  | vauthors=Strausberg RL, Feingold EA, Grouse LH |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 |display-authors=etal}}
*{{cite journal  | author=Ilyin GP, Rialland M, Pigeon C, Guguen-Guillouzo C |title=cDNA cloning and expression analysis of new members of the mammalian F-box protein family. |journal=Genomics |volume=67 |issue= 1 |pages= 40-7 |year= 2001 |pmid= 10945468 |doi= 10.1006/geno.2000.6211 }}
*{{cite journal  | vauthors=de Mollerat XJ, Gurrieri F, Morgan CT |title=A genomic rearrangement resulting in a tandem duplication is associated with split hand-split foot malformation 3 (SHFM3) at 10q24. |journal=Hum. Mol. Genet. |volume=12 |issue= 16 |pages= 1959–71 |year= 2004 |pmid= 12913067 |doi=10.1093/hmg/ddg212 |display-authors=etal}}
*{{cite journal  | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
*{{cite journal  | vauthors=Basel D, DePaepe A, Kilpatrick MW, Tsipouras P |title=Split hand foot malformation is associated with a reduced level of Dactylin gene expression. |journal=Clin. Genet. |volume=64 |issue= 4 |pages= 350–4 |year= 2004 |pmid= 12974740 |doi=10.1034/j.1399-0004.2003.00153.x }}
*{{cite journal  | author=de Mollerat XJ, Gurrieri F, Morgan CT, ''et al.'' |title=A genomic rearrangement resulting in a tandem duplication is associated with split hand-split foot malformation 3 (SHFM3) at 10q24. |journal=Hum. Mol. Genet. |volume=12 |issue= 16 |pages= 1959-71 |year= 2004 |pmid= 12913067 |doi=  }}
*{{cite journal  | vauthors=Busino L, Donzelli M, Chiesa M |title=Degradation of Cdc25A by beta-TrCP during S phase and in response to DNA damage. |journal=Nature |volume=426 |issue= 6962 |pages= 87–91 |year= 2003 |pmid= 14603323 |doi= 10.1038/nature02082 |display-authors=etal}}
*{{cite journal  | author=Basel D, DePaepe A, Kilpatrick MW, Tsipouras P |title=Split hand foot malformation is associated with a reduced level of Dactylin gene expression. |journal=Clin. Genet. |volume=64 |issue= 4 |pages= 350-4 |year= 2004 |pmid= 12974740 |doi=  }}
*{{cite journal  | vauthors=Roscioli T, Taylor PJ, Bohlken A |title=The 10q24-linked split hand/split foot syndrome (SHFM3): narrowing of the critical region and confirmation of the clinical phenotype. |journal=Am. J. Med. Genet. A |volume=124 |issue= 2 |pages= 136–41 |year= 2004 |pmid= 14699611 |doi= 10.1002/ajmg.a.20348 |display-authors=etal}}
*{{cite journal  | author=Busino L, Donzelli M, Chiesa M, ''et al.'' |title=Degradation of Cdc25A by beta-TrCP during S phase and in response to DNA damage. |journal=Nature |volume=426 |issue= 6962 |pages= 87-91 |year= 2003 |pmid= 14603323 |doi= 10.1038/nature02082 }}
*{{cite journal  | vauthors=Ota T, Suzuki Y, Nishikawa T |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 |display-authors=etal}}
*{{cite journal  | author=Roscioli T, Taylor PJ, Bohlken A, ''et al.'' |title=The 10q24-linked split hand/split foot syndrome (SHFM3): narrowing of the critical region and confirmation of the clinical phenotype. |journal=Am. J. Med. Genet. A |volume=124 |issue= 2 |pages= 136-41 |year= 2004 |pmid= 14699611 |doi= 10.1002/ajmg.a.20348 }}
*{{cite journal  | vauthors=Deloukas P, Earthrowl ME, Grafham DV |title=The DNA sequence and comparative analysis of human chromosome 10. |journal=Nature |volume=429 |issue= 6990 |pages= 375–81 |year= 2004 |pmid= 15164054 |doi= 10.1038/nature02462 |display-authors=etal}}
*{{cite journal  | author=Ota T, Suzuki Y, Nishikawa T, ''et al.'' |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40-5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 }}
*{{cite journal  | vauthors=Kang YS, Cheong HM, Moon Y |title=Molecular genetic characterization of a Korean split hand/split foot malformation (SHFM). |journal=Mol. Cells |volume=17 |issue= 3 |pages= 397–403 |year= 2004 |pmid= 15232212 |doi=  |display-authors=etal}}
*{{cite journal  | author=Deloukas P, Earthrowl ME, Grafham DV, ''et al.'' |title=The DNA sequence and comparative analysis of human chromosome 10. |journal=Nature |volume=429 |issue= 6990 |pages= 375-81 |year= 2004 |pmid= 15164054 |doi= 10.1038/nature02462 }}
*{{cite journal  | vauthors=Gerhard DS, Wagner L, Feingold EA |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 | pmc=528928 |display-authors=etal}}
*{{cite journal  | author=Kang YS, Cheong HM, Moon Y, ''et al.'' |title=Molecular genetic characterization of a Korean split hand/split foot malformation (SHFM). |journal=Mol. Cells |volume=17 |issue= 3 |pages= 397-403 |year= 2004 |pmid= 15232212 |doi=  }}
*{{cite journal  | vauthors=Kano H, Kurosawa K, Horii E |title=Genomic rearrangement at 10q24 in non-syndromic split-hand/split-foot malformation. |journal=Hum. Genet. |volume=118 |issue= 3–4 |pages= 477–83 |year= 2006 |pmid= 16235095 |doi= 10.1007/s00439-005-0074-0 |display-authors=etal}}
*{{cite journal  | author=Gerhard DS, Wagner L, Feingold EA, ''et al.'' |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121-7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 }}
*{{cite journal  | vauthors=Everman DB, Morgan CT, Lyle R |title=Frequency of genomic rearrangements involving the SHFM3 locus at chromosome 10q24 in syndromic and non-syndromic split-hand/foot malformation |journal=Am. J. Med. Genet. A |volume=140 |issue= 13 |pages= 1375–83 |year= 2006 |pmid= 16761290 |doi= 10.1002/ajmg.a.31246 |display-authors=etal}}
*{{cite journal  | author=Kano H, Kurosawa K, Horii E, ''et al.'' |title=Genomic rearrangement at 10q24 in non-syndromic split-hand/split-foot malformation. |journal=Hum. Genet. |volume=118 |issue= 3-4 |pages= 477-83 |year= 2006 |pmid= 16235095 |doi= 10.1007/s00439-005-0074-0 }}
*{{cite journal  | author=Everman DB, Morgan CT, Lyle R, ''et al.'' |title=Frequency of genomic rearrangements involving the SHFM3 locus at chromosome 10q24 in syndromic and non-syndromic split-hand/foot malformation. |journal=Am. J. Med. Genet. A |volume=140 |issue= 13 |pages= 1375-83 |year= 2006 |pmid= 16761290 |doi= 10.1002/ajmg.a.31246 }}
}}
}}
{{refend}}
{{refend}}


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Latest revision as of 04:42, 31 August 2017

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

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RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

F-box/WD repeat-containing protein 4 is a protein that in humans is encoded by the FBXW4 gene.[1][2][3]

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.[3]

References

  1. ↑ Gurrieri F, Prinos P, Tackels D, Kilpatrick MW, Allanson J, Genuardi M, Vuckov A, Nanni L, Sangiorgi E, Garofalo G, Nunes ME, Neri G, Schwartz C, Tsipouras P (Oct 1996). "A split hand-split foot (SHFM3) gene is located at 10q24-->25". Am J Med Genet. 62 (4): 427–36. doi:10.1002/(SICI)1096-8628(19960424)62:4<427::AID-AJMG16>3.0.CO;2-Q. PMID 8723077.
  2. ↑ Palmer SE, Scherer SW, Kukolich M, Wijsman EM, Tsui LC, Stephens K, Evans JP (Jul 1994). "Evidence for locus heterogeneity in human autosomal dominant split hand/split foot malformation". Am J Hum Genet. 55 (1): 21–6. PMC 1918225. PMID 7912888.
  3. ↑ 3.0 3.1 "Entrez Gene: FBXW4 F-box and WD repeat domain containing 4".

Further reading



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