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Protein

F-box/WD repeat-containing protein 4

Gene

FBXW4

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at transcript 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 - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Biological processi

Ubl conjugation pathway, Wnt signaling pathway

Enzyme and pathway databases

ReactomeiR-HSA-390471. Association of TriC/CCT with target proteins during biosynthesis.
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

HGNCiHGNC:10847. FBXW4.

Subcellular locationi

GO - Cellular componenti

  • ubiquitin ligase complex Source: UniProtKB
Complete GO annotation...

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

MalaCardsiFBXW4.
MIMi246560. phenotype.
Orphaneti2440. Split hand-split foot malformation.
PharmGKBiPA35751.

Polymorphism and mutation databases

BioMutaiFBXW4.
DMDMi13124191.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 412412F-box/WD repeat-containing protein 4PRO_0000050990Add
BLAST

Proteomic databases

EPDiP57775.
MaxQBiP57775.
PaxDbiP57775.
PeptideAtlasiP57775.
PRIDEiP57775.

PTM databases

PhosphoSiteiP57775.

Expressioni

Tissue specificityi

Expressed in brain, kidney, lung and liver.

Gene expression databases

BgeeiENSG00000107829.
CleanExiHS_FBXW4.
GenevisibleiP57775. HS.

Organism-specific databases

HPAiHPA043496.

Interactioni

Subunit structurei

Part of a SCF (SKP1-cullin-F-box) protein ligase complex.By similarity

Protein-protein interaction databases

BioGridi112364. 51 interactions.
DIPiDIP-41762N.
IntActiP57775. 6 interactions.
MINTiMINT-276648.
STRINGi9606.ENSP00000373698.

Structurei

3D structure databases

ProteinModelPortaliP57775.
SMRiP57775. Positions 31-367.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini25 – 7147F-boxPROSITE-ProRule annotationAdd
BLAST
Repeati154 – 19037WD 1Add
BLAST
Repeati193 – 22937WD 2Add
BLAST
Repeati236 – 27742WD 3Add
BLAST
Repeati283 – 32139WD 4Add
BLAST
Repeati327 – 36640WD 5Add
BLAST
Repeati373 – 40937WD 6Add
BLAST

Sequence similaritiesi

Contains 1 F-box domain.PROSITE-ProRule annotation
Contains 6 WD repeats.PROSITE-ProRule annotation

Keywords - Domaini

Repeat, WD repeat

Phylogenomic databases

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

Family and domain databases

Gene3Di2.130.10.10. 1 hit.
InterProiIPR001810. F-box_dom.
IPR015943. WD40/YVTN_repeat-like_dom.
IPR001680. WD40_repeat.
IPR017986. WD40_repeat_dom.
[Graphical view]
PfamiPF12937. F-box-like. 1 hit.
PF00400. WD40. 2 hits.
[Graphical view]
SMARTiSM00320. WD40. 5 hits.
[Graphical view]
SUPFAMiSSF50978. SSF50978. 1 hit.
SSF81383. SSF81383. 1 hit.
PROSITEiPS50181. FBOX. 1 hit.
PS50082. WD_REPEATS_2. 1 hit.
PS50294. WD_REPEATS_REGION. 1 hit.
[Graphical view]

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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti119 – 1191S → R in CAI12232 (PubMed:15164054).Curated
Sequence conflicti119 – 1191S → R in CAI41027 (PubMed:15164054).Curated
Sequence conflicti363 – 3631L → P in AAH07380 (PubMed:15489334).Curated

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.

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. Positions 31-367.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi112364. 51 interactions.
DIPiDIP-41762N.
IntActiP57775. 6 interactions.
MINTiMINT-276648.
STRINGi9606.ENSP00000373698.

PTM databases

PhosphoSiteiP57775.

Polymorphism and mutation databases

BioMutaiFBXW4.
DMDMi13124191.

Proteomic databases

EPDiP57775.
MaxQBiP57775.
PaxDbiP57775.
PeptideAtlasiP57775.
PRIDEiP57775.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi6468.
GeneCardsiFBXW4.
HGNCiHGNC:10847. FBXW4.
HPAiHPA043496.
MalaCardsiFBXW4.
MIMi246560. phenotype.
608071. gene.
neXtProtiNX_P57775.
Orphaneti2440. Split hand-split foot malformation.
PharmGKBiPA35751.
GenAtlasiSearch...

Phylogenomic databases

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

Enzyme and pathway databases

ReactomeiR-HSA-390471. Association of TriC/CCT with target proteins during biosynthesis.
SignaLinkiP57775.

Miscellaneous databases

ChiTaRSiFBXW4. human.
GeneWikiiFBXW4.
GenomeRNAii6468.
PROiP57775.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000107829.
CleanExiHS_FBXW4.
GenevisibleiP57775. HS.

Family and domain databases

Gene3Di2.130.10.10. 1 hit.
InterProiIPR001810. F-box_dom.
IPR015943. WD40/YVTN_repeat-like_dom.
IPR001680. WD40_repeat.
IPR017986. WD40_repeat_dom.
[Graphical view]
PfamiPF12937. F-box-like. 1 hit.
PF00400. WD40. 2 hits.
[Graphical view]
SMARTiSM00320. WD40. 5 hits.
[Graphical view]
SUPFAMiSSF50978. SSF50978. 1 hit.
SSF81383. SSF81383. 1 hit.
PROSITEiPS50181. FBOX. 1 hit.
PS50082. WD_REPEATS_2. 1 hit.
PS50294. WD_REPEATS_REGION. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiFBXW4_HUMAN
AccessioniPrimary (citable) accession number: P57775
Secondary accession number(s): Q5SVS1, Q96IM6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 21, 2001
Last sequence update: February 21, 2001
Last modified: September 7, 2016
This is version 150 of the entry and version 1 of the sequence. [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. Human chromosome 10
    Human chromosome 10: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.