Seroatlas · Human Serome Atlas

FBXW7

F-box/WD repeat-containing protein 7

Also known as: AGO, CDC4, FBW7, FBX30, FBXW6, FBXW7_HUMAN, FLJ11071, SEL-10, SEL10

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q969H0
Gene: FBXW7
Ensembl: ENSG00000109670
Chromosome: 4
Canonical length: 707 aa
Protein class: Cancer-related genes, Predicted intracellular proteins
Subcellular location: Nucleoplasm,Vesicles
Quaternary structure: Homodimer

OverviewNCBI Gene

This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene was previously referred to as FBX30, and belongs to the Fbws class; in addition to an F-box, this protein contains 7 tandem WD40 repeats. This protein binds directly to cyclin E and probably targets cyclin E for ubiquitin-mediated degradation. Mutations in this gene are detected in ovarian and breast cancer cell lines, implicating the gene's potential role in the pathogenesis of human cancers. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2012]

Canonical amino-acid sequenceUniProt

707 residues, UniProt reviewed canonical sequence.

>Q969H0|FBXW7
     1  MNQELLSVGS KRRRTGGSLR GNPSSSQVDE EQMNRVVEEE QQQQLRQQEE EHTARNGEVV
    61  GVEPRPGGQN DSQQGQLEEN NNRFISVDED SSGNQEEQEE DEEHAGEQDE EDEEEEEMDQ
   121  ESDDFDQSDD SSREDEHTHT NSVTNSSSIV DLPVHQLSSP FYTKTTKMKR KLDHGSEVRS
   181  FSLGKKPCKV SEYTSTTGLV PCSATPTTFG DLRAANGQGQ QRRRITSVQP PTGLQEWLKM
   241  FQSWSGPEKL LALDELIDSC EPTQVKHMMQ VIEPQFQRDF ISLLPKELAL YVLSFLEPKD
   301  LLQAAQTCRY WRILAEDNLL WREKCKEEGI DEPLHIKRRK VIKPGFIHSP WKSAYIRQHR
   361  IDTNWRRGEL KSPKVLKGHD DHVITCLQFC GNRIVSGSDD NTLKVWSAVT GKCLRTLVGH
   421  TGGVWSSQMR DNIIISGSTD RTLKVWNAET GECIHTLYGH TSTVRCMHLH EKRVVSGSRD
   481  ATLRVWDIET GQCLHVLMGH VAAVRCVQYD GRRVVSGAYD FMVKVWDPET ETCLHTLQGH
   541  TNRVYSLQFD GIHVVSGSLD TSIRVWDVET GNCIHTLTGH QSLTSGMELK DNILVSGNAD
   601  STVKIWDIKT GQCLQTLQGP NKHQSAVTCL QFNKNFVITS SDDGTVKLWD LKTGEFIRNL
   661  VTLESGGSGG VVWRIRASNT KLVCAVGSRN GTEETKLLVL DFDVDMK

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against FBXW7 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.39
Highest tissue expression: 58 nTPM

Expression across tissuesHPA

Tissue

cerebral cortex: 58 nTPM
skin: 58 nTPM
cerebellum: 33 nTPM
amygdala: 31 nTPM
hippocampal formation: 25 nTPM
epididymis: 22 nTPM

Single-cell type

neutrophils: 1,271 nCPM
plasma cells: 1,259 nCPM
neutrophil progenitors: 726 nCPM
urothelial cells: 498 nCPM
ocular epithelial cells: 442 nCPM
basal keratinocytes: 442 nCPM

Immune cell

basophil: 21 nTPM
NK-cell: 6.9 nTPM
neutrophil: 4.7 nTPM
gdT-cell: 4 nTPM
naive CD4 T-cell: 3.3 nTPM
memory CD4 T-cell: 3.1 nTPM

Brain region

cerebral cortex: 131 nTPM
cerebellum: 126 nTPM
white matter: 110 nTPM
basal ganglia: 102 nTPM
amygdala: 97 nTPM
hippocampal formation: 92 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about FBXW7.

Disease | AllUniProt

Conditions FBXW7 is implicated in, by any mechanism.

Developmental delay, hypotonia, and impaired language (DEDHIL) MIM:620012

Disease | GeneticClinVar

31 pathogenic / likely-pathogenic of 294 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Developmental delay, hypotonia, and impaired language
FBXW7-related disorder
Medulloblastoma WNT activated
Neurodevelopmental disorder
Colorectal cancer

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.23
gnomAD pLI: 1
gnomAD missense Z: 3.71
DepMap mean gene effect: -0.07
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of FBXW7 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads FBXW7 as an antibody target. Whether an autoantibody or antibody against FBXW7 could matter depends on whether native FBXW7 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

FBXW7 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label FBXW7 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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