FBXW4
entrez
6468
canonical
uniprot
P57775
canonical
ensembl
ENSG00000107829
resolver
ensp
ENSP00000359149
resolver
ensp
ENSP00000499522
resolver
enst
ENST00000331272
resolver
enst
ENST00000664783
resolver
genesymbol
FBXW4
resolver
genesymbol_syn
FBW4
resolver
genesymbol_syn
SHFM3
resolver
hgnc
HGNC:10847
resolver
uniprot
A0A384P5X9
resolver
uniprot
A0A5F9UQ55
resolver
uniprot
Q5SVS1
resolver
uniprot
Q96IM6
resolver
uniprot_entry
A0A384P5X9_HUMAN
resolver
uniprot_entry
A0A5F9UQ55_HUMAN
resolver
uniprot_entry
FBXW4_HUMAN
resolver
uniprot_sec
Q5SVS1
resolver
uniprot_sec
Q96IM6
resolver
amino_acid_sequence
MAAAAGEEEEEEEAARESAARPAAGPALWRLPEELLLLICSYLDMRALGRLAQVCRWLRRFTSCDLLWRRIARASLNSGFTRLGTDLMTSVPVKERVKVSQNWRLGRCREGILLKWRCSQMPWMQLEDDSLYISQANFILAYQFRPDGASLNRRPLGVFAGHDEDVCHFVLANSHIVSAGGDGKIGIHKIHSTFTVKYSAHEQEVNCVDCKGGIIVSGSRDRTAKVWPLASGRLGQCLHTIQTEDRVWSIAISPLLSSFVTGTACCGHFSPLRIWDLNSGQLMTHLGSDFPPGAGVLDVMYESPFTLLSCGYDTYVRYWDLRTSVRKCVMEWEEPHDSTLYCLQTDGNHLLATGSSYYGVVRLWDRRQRACLHAFPLTSTPLSSPVYCLRLTTKHLYAALSYNLHVLDFQNP
uniprot
proteins
disease_involvement
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 intellectual disability, ectodermal and craniofacial findings, and orofacial clefting. {ECO:0000269|PubMed:12913067}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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.
uniprot
proteins
mass_dalton
46337
uniprot
proteins
pubmed
10405324
uniprot
proteins
pubmed
10945468
uniprot
proteins
pubmed
12913067
uniprot
proteins
pubmed
15164054
uniprot
proteins
pubmed
15489334
uniprot
proteins
sequence_length
412
uniprot
proteins