InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: FBXW4

Summary

InnateDB Protein

IDBP-87373.7

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

FBXW4

Protein Name

F-box and WD repeat domain containing 4

Synonyms

DAC; FBW4; FBWD4; SHFM3; SHSF3;

Species

Homo sapiens

Ensembl Protein

ENSP00000359149

InnateDB Gene

IDBG-87371 (FBXW4)

Protein Structure

UniProt Annotation

Function

Probably recognizes and binds to some phosphorylated proteins and promotes their ubiquitination and degradation. Likely to be involved in key signaling pathways crucial for normal limb development. May participate in Wnt signaling.

Subcellular Localization

Disease Associations

Split-hand/foot malformation 3 (SHFM3) [MIM:246560]: A limb malformation involving the central rays of the autopod and presenting with syndactyly, median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals. Some patients have been found to have mental retardation, ectodermal and craniofacial findings, and orofacial clefting. {ECO:0000269PubMed:12913067}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Expressed in brain, kidney, lung and liver.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 44 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.

Experimentally validated
Total	44 [view]
Protein-Protein	44 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	2 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003674	molecular_function
GO:0005515	protein binding

Biological Process

GO:0002053	positive regulation of mesenchymal cell proliferation
GO:0006511	ubiquitin-dependent protein catabolic process
GO:0016055	Wnt signaling pathway
GO:0030326	embryonic limb morphogenesis
GO:0042733	embryonic digit morphogenesis
GO:0051216	cartilage development
GO:0060173	limb development