FBXO31

Protein identityUniProt · HPA

UniProt accession

Q5XUX0

Gene

FBXO31

Ensembl

ENSG00000103264

Chromosome

16

Canonical length

539 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins

Subcellular location

Nucleoplasm,Golgi apparatus,Cytosol

OverviewNCBI Gene

This gene is a member of the F-box family. Members are classified into three classes according to the substrate interaction domain, FBW for WD40 repeats, FBL for leucing-rich repeats, and FBXO for other domains. This protein, classified into the last category because of the lack of a recognizable substrate binding domain, has been proposed to be a component of the SCF ubiquitination complex. It is thought to bind and recruit substrate for ubiquitination and degradation. This protein may have a role in regulating the cell cycle as well as dendrite growth and neuronal migration. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]

Canonical amino-acid sequenceUniProt

539 residues, UniProt reviewed canonical sequence.

>Q5XUX0|FBXO31
     1  MAVCARLCGV GPSRGCRRRQ QRRGPAETAA ADSEPDTDPE EERIEASAGV GGGLCAGPSP
    61  PPPRCSLLEL PPELLVEIFA SLPGTDLPSL AQVCTKFRRI LHTDTIWRRR CREEYGVCEN
   121  LRKLEITGVS CRDVYAKLLH RYRHILGLWQ PDIGPYGGLL NVVVDGLFII GWMYLPPHDP
   181  HVDDPMRFKP LFRIHLMERK AATVECMYGH KGPHHGHIQI VKKDEFSTKC NQTDHHRMSG
   241  GRQEEFRTWL REEWGRTLED IFHEHMQELI LMKFIYTSQY DNCLTYRRIY LPPSRPDDLI
   301  KPGLFKGTYG SHGLEIVMLS FHGRRARGTK ITGDPNIPAG QQTVEIDLRH RIQLPDLENQ
   361  RNFNELSRIV LEVRERVRQE QQEGGHEAGE GRGRQGPRES QPSPAQPRAE APSKGPDGTP
   421  GEDGGEPGDA VAAAEQPAQC GQGQPFVLPV GVSSRNEDYP RTCRMCFYGT GLIAGHGFTS
   481  PERTPGVFIL FDEDRFGFVW LELKSFSLYS RVQATFRNAD APSPQAFDEM LKNIQSLTS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against FBXO31 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)

0.36

Highest tissue expression

61 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about FBXO31.

Disease | AllUniProt

Conditions FBXO31 is implicated in, by any mechanism.

• Intellectual developmental disorder, autosomal recessive 45 (MRT45) MIM:615979

Disease | GeneticClinVar

3 pathogenic / likely-pathogenic of 131 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Intellectual disability, autosomal recessive 45
• Ectopic thyroid
• Spastic cerebral palsy

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)

0.46

gnomAD pLI

0.44

gnomAD missense Z

2.46

DepMap mean gene effect

0.04

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• anaphase-promoting complex-dependent catabolic process
• cellular response to oxidative stress
• DNA damage response
• mitotic G1 DNA damage checkpoint signaling
• proteasome-mediated ubiquitin-dependent protein catabolic process
• protein ubiquitination
• SCF-dependent proteasomal ubiquitin-dependent protein catabolic process
• signal transduction in response to DNA damage

Molecular functions

• cyclin binding
• ubiquitin-like ligase-substrate adaptor activity

Cellular components

• centrosome
• cytoplasm
• cytosol
• neuronal cell body
• SCF ubiquitin ligase complex

Protein domainsUniProt · Pfam · InterPro

• F-box domain
• F-box-like domain superfamily
• F-box only protein 31/39
• F-box-like
• Cyclin D1 binding domain

KeywordsUniProt

• Cell cycle
• Cytoplasm
• Cytoskeleton
• DNA damage
• Intellectual disability
• Phosphoprotein
• Ubl conjugation
• Ubl conjugation pathway

InteractionsUniProt · HPA

Protein binding partners of FBXO31 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• CCND1
• SKP1