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Protein

F-box/WD repeat-containing protein 4

Gene

FBXW4

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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.

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionDevelopmental protein
Biological processUbl conjugation pathway, Wnt signaling pathway

Enzyme and pathway databases

ReactomeiR-HSA-390471 Association of TriC/CCT with target proteins during biosynthesis
R-HSA-8951664 Neddylation
R-HSA-983168 Antigen processing: Ubiquitination & Proteasome degradation
SignaLinkiP57775

Names & Taxonomyi

Protein namesi
Recommended name:
F-box/WD repeat-containing protein 4
Alternative name(s):
Dactylin
F-box and WD-40 domain-containing protein 4
Gene namesi
Name:FBXW4
Synonyms:FBW4, SHFM3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 10

Organism-specific databases

EuPathDBiHostDB:ENSG00000107829.13
HGNCiHGNC:10847 FBXW4
MIMi608071 gene
neXtProtiNX_P57775

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Pathology & Biotechi

Involvement in diseasei

Split-hand/foot malformation 3 (SHFM3)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:246560

Organism-specific databases

DisGeNETi6468
MIMi246560 phenotype
OpenTargetsiENSG00000107829
PharmGKBiPA35751

Polymorphism and mutation databases

BioMutaiFBXW4
DMDMi13124191

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000509901 – 412F-box/WD repeat-containing protein 4Add BLAST412

Proteomic databases

EPDiP57775
MaxQBiP57775
PaxDbiP57775
PeptideAtlasiP57775
PRIDEiP57775
ProteomicsDBi57037

PTM databases

PhosphoSitePlusiP57775

Expressioni

Tissue specificityi

Expressed in brain, kidney, lung and liver.1 Publication

Gene expression databases

BgeeiENSG00000107829 Expressed in 226 organ(s), highest expression level in C1 segment of cervical spinal cord
CleanExiHS_FBXW4
GenevisibleiP57775 HS

Organism-specific databases

HPAiHPA043496

Interactioni

Subunit structurei

Part of a SCF (SKP1-cullin-F-box) protein ligase complex (Probable). Interacts with POUF51 (By similarity).By similarityCurated

Binary interactionsi

WithEntry#Exp.IntActNotes
SKP1P632082EBI-2372268,EBI-307486

Protein-protein interaction databases

BioGridi112364, 54 interactors
DIPiDIP-41762N
IntActiP57775, 6 interactors
MINTiP57775
STRINGi9606.ENSP00000373698

Structurei

3D structure databases

ProteinModelPortaliP57775
SMRiP57775
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini25 – 71F-boxPROSITE-ProRule annotationAdd BLAST47
Repeati154 – 190WD 1Add BLAST37
Repeati193 – 229WD 2Add BLAST37
Repeati236 – 277WD 3Add BLAST42
Repeati283 – 321WD 4Add BLAST39
Repeati327 – 366WD 5Add BLAST40
Repeati373 – 409WD 6Add BLAST37

Keywords - Domaini

Repeat, WD repeat

Phylogenomic databases

eggNOGiENOG410II9E Eukaryota
ENOG4111J40 LUCA
GeneTreeiENSGT00390000005029
HOGENOMiHOG000112554
HOVERGENiHBG051594
InParanoidiP57775
KOiK10262
OMAiHDSALYC
OrthoDBiEOG091G092K
PhylomeDBiP57775
TreeFamiTF325020

Family and domain databases

Gene3Di2.130.10.10, 2 hits
InterProiView protein in InterPro
IPR036047 F-box-like_dom_sf
IPR001810 F-box_dom
IPR015943 WD40/YVTN_repeat-like_dom_sf
IPR001680 WD40_repeat
IPR017986 WD40_repeat_dom
IPR036322 WD40_repeat_dom_sf
PfamiView protein in Pfam
PF12937 F-box-like, 1 hit
PF00400 WD40, 2 hits
SMARTiView protein in SMART
SM00320 WD40, 5 hits
SUPFAMiSSF50978 SSF50978, 1 hit
SSF81383 SSF81383, 1 hit
PROSITEiView protein in PROSITE
PS50181 FBOX, 1 hit
PS50082 WD_REPEATS_2, 1 hit
PS50294 WD_REPEATS_REGION, 1 hit

Sequencei

Sequence statusi: Complete.

P57775-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MAAAAGEEEE EEEAARESAA RPAAGPALWR LPEELLLLIC SYLDMRALGR
60 70 80 90 100
LAQVCRWLRR FTSCDLLWRR IARASLNSGF TRLGTDLMTS VPVKERVKVS
110 120 130 140 150
QNWRLGRCRE GILLKWRCSQ MPWMQLEDDS LYISQANFIL AYQFRPDGAS
160 170 180 190 200
LNRRPLGVFA GHDEDVCHFV LANSHIVSAG GDGKIGIHKI HSTFTVKYSA
210 220 230 240 250
HEQEVNCVDC KGGIIVSGSR DRTAKVWPLA SGRLGQCLHT IQTEDRVWSI
260 270 280 290 300
AISPLLSSFV TGTACCGHFS PLRIWDLNSG QLMTHLGSDF PPGAGVLDVM
310 320 330 340 350
YESPFTLLSC GYDTYVRYWD LRTSVRKCVM EWEEPHDSTL YCLQTDGNHL
360 370 380 390 400
LATGSSYYGV VRLWDRRQRA CLHAFPLTST PLSSPVYCLR LTTKHLYAAL
410
SYNLHVLDFQ NP
Length:412
Mass (Da):46,337
Last modified:February 21, 2001 - v1
Checksum:i36C175FDE30D283B
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti119S → R in CAI12232 (PubMed:15164054).Curated1
Sequence conflicti119S → R in CAI41027 (PubMed:15164054).Curated1
Sequence conflicti363L → P in AAH07380 (PubMed:15489334).Curated1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF281859 mRNA Translation: AAG22739.1
AL627144, AC010789, AL627424 Genomic DNA Translation: CAI12232.1
AL627424, AL627144, AC010789 Genomic DNA Translation: CAI41027.1
BC007380 mRNA Translation: AAH07380.2
BC063415 mRNA Translation: AAH63415.1
CCDSiCCDS31271.1
RefSeqiNP_071322.1, NM_022039.3
UniGeneiHs.500822

Genome annotation databases

EnsembliENST00000331272; ENSP00000359149; ENSG00000107829
GeneIDi6468
KEGGihsa:6468
UCSCiuc001kto.4 human

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF281859 mRNA Translation: AAG22739.1
AL627144, AC010789, AL627424 Genomic DNA Translation: CAI12232.1
AL627424, AL627144, AC010789 Genomic DNA Translation: CAI41027.1
BC007380 mRNA Translation: AAH07380.2
BC063415 mRNA Translation: AAH63415.1
CCDSiCCDS31271.1
RefSeqiNP_071322.1, NM_022039.3
UniGeneiHs.500822

3D structure databases

ProteinModelPortaliP57775
SMRiP57775
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi112364, 54 interactors
DIPiDIP-41762N
IntActiP57775, 6 interactors
MINTiP57775
STRINGi9606.ENSP00000373698

PTM databases

PhosphoSitePlusiP57775

Polymorphism and mutation databases

BioMutaiFBXW4
DMDMi13124191

Proteomic databases

EPDiP57775
MaxQBiP57775
PaxDbiP57775
PeptideAtlasiP57775
PRIDEiP57775
ProteomicsDBi57037

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000331272; ENSP00000359149; ENSG00000107829
GeneIDi6468
KEGGihsa:6468
UCSCiuc001kto.4 human

Organism-specific databases

CTDi6468
DisGeNETi6468
EuPathDBiHostDB:ENSG00000107829.13
GeneCardsiFBXW4
HGNCiHGNC:10847 FBXW4
HPAiHPA043496
MIMi246560 phenotype
608071 gene
neXtProtiNX_P57775
OpenTargetsiENSG00000107829
PharmGKBiPA35751
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410II9E Eukaryota
ENOG4111J40 LUCA
GeneTreeiENSGT00390000005029
HOGENOMiHOG000112554
HOVERGENiHBG051594
InParanoidiP57775
KOiK10262
OMAiHDSALYC
OrthoDBiEOG091G092K
PhylomeDBiP57775
TreeFamiTF325020

Enzyme and pathway databases

ReactomeiR-HSA-390471 Association of TriC/CCT with target proteins during biosynthesis
R-HSA-8951664 Neddylation
R-HSA-983168 Antigen processing: Ubiquitination & Proteasome degradation
SignaLinkiP57775

Miscellaneous databases

ChiTaRSiFBXW4 human
GeneWikiiFBXW4
GenomeRNAii6468
PROiPR:P57775
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000107829 Expressed in 226 organ(s), highest expression level in C1 segment of cervical spinal cord
CleanExiHS_FBXW4
GenevisibleiP57775 HS

Family and domain databases

Gene3Di2.130.10.10, 2 hits
InterProiView protein in InterPro
IPR036047 F-box-like_dom_sf
IPR001810 F-box_dom
IPR015943 WD40/YVTN_repeat-like_dom_sf
IPR001680 WD40_repeat
IPR017986 WD40_repeat_dom
IPR036322 WD40_repeat_dom_sf
PfamiView protein in Pfam
PF12937 F-box-like, 1 hit
PF00400 WD40, 2 hits
SMARTiView protein in SMART
SM00320 WD40, 5 hits
SUPFAMiSSF50978 SSF50978, 1 hit
SSF81383 SSF81383, 1 hit
PROSITEiView protein in PROSITE
PS50181 FBOX, 1 hit
PS50082 WD_REPEATS_2, 1 hit
PS50294 WD_REPEATS_REGION, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiFBXW4_HUMAN
AccessioniPrimary (citable) accession number: P57775
Secondary accession number(s): Q5SVS1, Q96IM6
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 21, 2001
Last sequence update: February 21, 2001
Last modified: November 7, 2018
This is version 169 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  2. Human chromosome 10
    Human chromosome 10: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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