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P57775 Proteins with WD Repeats
Uniprot ID: P57775
Protein name : F-box/WD repeat-containing protein 4
Gene : FBXW4 FBW4 SHFM3
Protein Families :
Squence Length : 412
Sequence
>P57775 413 MAAAAGEEEEEEEAARESAARPAAGPALWRLPEELLLLICSYLDMRALGRLAQVCRWLRRFTSCDLLWRRIARASLNSGFTRLGTDLMTSVPVKERVKVSQNWRLGRCREGILLKWRCSQMPWMQLEDDSLYISQANFILAYQFRPDGASLNRRPLGVFAGHDEDVCHFVLANSHIVSAGGDGKIGIHKIHSTFTVKYSAHEQEVNCVDCKGGIIVSGSRDRTAKVWPLASGRLGQCLHTIQTEDRVWSIAISPLLSSFVTGTACCGHFSPLRIWDLNSGQLMTHLGSDFPPGAGVLDVMYESPFTLLSCGYDTYVRYWDLRTSVRKCVMEWEEPHDSTLYCLQTDGNHLLATGSSYYGVVRLWDRRQRACLHAFPLTSTPLSSPVYCLRLTTKHLYAALSYNLHVLDFQNP
Repeat regions
REPEAT 154 190 WD 1 REPEAT 193 229 WD 2 REPEAT 236 277 WD 3 REPEAT 283 321 WD 4 REPEAT 327 366 WD 5 REPEAT 373 409 WD 6
Sequence region of repeats
154- 190 LGVFAGHDEDVCHFVLANSHIVSAGGDGKIGIHKIHS 193- 229 TVKYSAHEQEVNCVDCKGGIIVSGSRDRTAKVWPLAS 236- 277 LHTIQTEDRVWSIAISPLLSSFVTGTACCGHFSPLRIWDLNS 283- 321 HLGSDFPPGAGVLDVMYESPFTLLSCGYDTYVRYWDLRT 327- 366 VMEWEEPHDSTLYCLQTDGNHLLATGSSYYGVVRLWDRRQ 373- 409 FPLTSTPLSSPVYCLRLTTKHLYAALSYNLHVLDFQN
Domains
DOMAIN 25 71 F-box
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
Disease
"DISEASE: 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 Note=The disease is caused by mutations affecting the gene represented in this entry"