Free for academic non-profit institutions. Other users need a Commercial license

Aliases for FBXO31 Gene

Aliases for FBXO31 Gene

  • F-Box Protein 31 2 3 5
  • Fbx31 3 4
  • FBX14 3 4
  • SCF Ubiquitin Ligase Specificity Factor 3
  • Putative Breast Cancer Tumor-Suppressor 3
  • F-Box Only Protein 31 2
  • FBXO14 3
  • Pp2386 3
  • MRT45 3

External Ids for FBXO31 Gene

Previous GeneCards Identifiers for FBXO31 Gene

  • GC00U991104
  • GC16M087145
  • GC16M085920
  • GC16M087362
  • GC16M073106
  • GC16M087365
  • GC16M087367

Summaries for FBXO31 Gene

Entrez Gene Summary for FBXO31 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]

GeneCards Summary for FBXO31 Gene

FBXO31 (F-Box Protein 31) is a Protein Coding gene. Diseases associated with FBXO31 include Mental Retardation, Autosomal Recessive 45 and Intellectual Disability. Among its related pathways are Antigen processing- Ubiquitination and Proteasome degradation and Immune System. GO annotations related to this gene include cyclin binding.

UniProtKB/Swiss-Prot for FBXO31 Gene

  • Component of some SCF (SKP1-cullin-F-box) protein ligase complex that plays a central role in G1 arrest following DNA damage. Specifically recognizes phosphorylated cyclin-D1 (CCND1), promoting its ubiquitination and degradation by the proteasome, resulting in G1 arrest. May act as a tumor suppressor.

Gene Wiki entry for FBXO31 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FBXO31 Gene

Genomics for FBXO31 Gene

Regulatory Elements for FBXO31 Gene

Enhancers for FBXO31 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around FBXO31 on UCSC Golden Path with GeneCards custom track

Promoters for FBXO31 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around FBXO31 on UCSC Golden Path with GeneCards custom track

Genomic Location for FBXO31 Gene

Chromosome:
16
Start:
87,326,987 bp from pter
End:
87,392,142 bp from pter
Size:
65,156 bases
Orientation:
Minus strand

Genomic View for FBXO31 Gene

Genes around FBXO31 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FBXO31 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FBXO31 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FBXO31 Gene

Proteins for FBXO31 Gene

  • Protein details for FBXO31 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5XUX0-FBX31_HUMAN
    Recommended name:
    F-box only protein 31
    Protein Accession:
    Q5XUX0
    Secondary Accessions:
    • Q5K680
    • Q8WYV1
    • Q96D73
    • Q9UFV4

    Protein attributes for FBXO31 Gene

    Size:
    539 amino acids
    Molecular mass:
    60664 Da
    Quaternary structure:
    • Part of a SCF (SKP1-cullin-F-box) protein ligase complex.
    SequenceCaution:
    • Sequence=AAH12748.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAL55855.1; Type=Frameshift; Positions=496; Evidence={ECO:0000305}; Sequence=CAB55929.2; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for FBXO31 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FBXO31 Gene

Proteomics data for FBXO31 Gene at MOPED

Post-translational modifications for FBXO31 Gene

  • Phosphorylation at Ser-278 by ATM following gamma-irradiation results in its stabilization.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for FBXO31 Gene

No data available for DME Specific Peptides for FBXO31 Gene

Domains & Families for FBXO31 Gene

Gene Families for FBXO31 Gene

Protein Domains for FBXO31 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for FBXO31 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q5XUX0

UniProtKB/Swiss-Prot:

FBX31_HUMAN :
  • Contains 1 F-box domain.
  • Belongs to the FBXO31 family.
Domain:
  • Contains 1 F-box domain.
Family:
  • Belongs to the FBXO31 family.
genes like me logo Genes that share domains with FBXO31: view

Function for FBXO31 Gene

Molecular function for FBXO31 Gene

UniProtKB/Swiss-Prot Function:
Component of some SCF (SKP1-cullin-F-box) protein ligase complex that plays a central role in G1 arrest following DNA damage. Specifically recognizes phosphorylated cyclin-D1 (CCND1), promoting its ubiquitination and degradation by the proteasome, resulting in G1 arrest. May act as a tumor suppressor.
UniProtKB/Swiss-Prot Induction:
By DNA damage. Increases after UV irradiation, X-ray irradiation, oxidative stress (H(2)O(2)) or addition of the chemotherapeutic DNA-damaging agents etoposide, adriamycin, cisplatin or fluorouracil.
genes like me logo Genes that share phenotypes with FBXO31: view

Human Phenotype Ontology for FBXO31 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for FBXO31 Gene

MGI Knock Outs for FBXO31:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for FBXO31 Gene

Localization for FBXO31 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for FBXO31 Gene COMPARTMENTS Subcellular localization image for FBXO31 gene
Compartment Confidence
cytosol 2
mitochondrion 2
plasma membrane 1

Gene Ontology (GO) - Cellular Components for FBXO31 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0043025 neuronal cell body IEA,ISS --
genes like me logo Genes that share ontologies with FBXO31: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for FBXO31 Gene

Pathways & Interactions for FBXO31 Gene

genes like me logo Genes that share pathways with FBXO31: view

UniProtKB/Swiss-Prot Q5XUX0-FBX31_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

SIGNOR curated interactions for FBXO31 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for FBXO31 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000209 protein polyubiquitination TAS --
GO:0006974 cellular response to DNA damage stimulus IDA 19412162
GO:0008054 negative regulation of cyclin-dependent protein serine/threonine kinase by cyclin degradation IMP 19412162
GO:0031146 SCF-dependent proteasomal ubiquitin-dependent protein catabolic process IEA,IDA 19412162
genes like me logo Genes that share ontologies with FBXO31: view

Drugs & Compounds for FBXO31 Gene

No Compound Related Data Available

Transcripts for FBXO31 Gene

Unigene Clusters for FBXO31 Gene

F-box protein 31:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for FBXO31 Gene

No ASD Table

Relevant External Links for FBXO31 Gene

GeneLoc Exon Structure for
FBXO31
ECgene alternative splicing isoforms for
FBXO31

Expression for FBXO31 Gene

mRNA expression in normal human tissues for FBXO31 Gene

Protein differential expression in normal tissues from HIPED for FBXO31 Gene

This gene is overexpressed in Adipocyte (49.5) and Frontal cortex (19.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for FBXO31 Gene



SOURCE GeneReport for Unigene cluster for FBXO31 Gene Hs.567582

mRNA Expression by UniProt/SwissProt for FBXO31 Gene

Q5XUX0-FBX31_HUMAN
Tissue specificity: Highly expressed in brain. Expressed at moderate levels in most tissues, except bone marrow.
genes like me logo Genes that share expression patterns with FBXO31: view

Protein tissue co-expression partners for FBXO31 Gene

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for FBXO31 Gene

Orthologs for FBXO31 Gene

This gene was present in the common ancestor of chordates.

Orthologs for FBXO31 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia FBXO31 35
  • 86.75 (n)
  • 89.62 (a)
FBXO31 36
  • 81 (a)
OneToOne
dog
(Canis familiaris)
Mammalia FBXO31 35
  • 84.98 (n)
  • 88.21 (a)
FBXO31 36
  • 82 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Fbxo31 35
  • 86.26 (n)
  • 91.72 (a)
Fbxo31 16
Fbxo31 36
  • 91 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia FBXO31 35
  • 99.38 (n)
  • 99.81 (a)
FBXO31 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Fbxo31 35
  • 86.19 (n)
  • 91.12 (a)
oppossum
(Monodelphis domestica)
Mammalia FBXO31 36
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FBXO31 36
  • 86 (a)
OneToOne
chicken
(Gallus gallus)
Aves LOC100857445 35
  • 78.29 (n)
  • 84.26 (a)
-- 36
  • 73 (a)
OneToMany
-- 36
  • 79 (a)
OneToMany
-- 36
  • 78 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia FBXO31 36
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fbxo31 35
  • 68.08 (n)
  • 73.55 (a)
zebrafish
(Danio rerio)
Actinopterygii si:ch211-147k9.7 35
  • 69.71 (n)
  • 71.98 (a)
FBXO31 36
  • 65 (a)
OneToOne
Species with no ortholog for FBXO31:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for FBXO31 Gene

ENSEMBL:
Gene Tree for FBXO31 (if available)
TreeFam:
Gene Tree for FBXO31 (if available)

Paralogs for FBXO31 Gene

No data available for Paralogs for FBXO31 Gene

Variants for FBXO31 Gene

Sequence variations from dbSNP and Humsavar for FBXO31 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs42857 -- 87,357,333(-) aaaaa(A/T)aaaaa intron-variant
rs4240793 -- 87,355,350(+) TTTGG(A/C)TGCTG intron-variant
rs8062893 -- 87,384,391(+) CCCGG(C/G)GAGGG intron-variant, upstream-variant-2KB
rs4294823 -- 87,387,836(+) GCCAC(A/G)TTAAC intron-variant
rs189703 -- 87,332,746(-) GCTCC(C/T)GGAGG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for FBXO31 Gene

Variant ID Type Subtype PubMed ID
nsv907153 CNV Loss 21882294
nsv510694 CNV Loss 20534489
nsv907154 CNV Gain 21882294
nsv907155 CNV Loss 21882294
nsv907156 CNV Loss 21882294
nsv907157 CNV Gain 21882294
nsv833320 CNV Gain 17160897
nsv428330 CNV Gain 18775914
esv2714922 CNV Deletion 23290073
dgv499n67 CNV Gain 20364138
dgv2950n71 CNV Loss 21882294
esv2658266 CNV Deletion 23128226

Variation tolerance for FBXO31 Gene

Residual Variation Intolerance Score: 10.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.79; 16.69% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for FBXO31 Gene

Human Gene Mutation Database (HGMD)
FBXO31

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FBXO31 Gene

Disorders for FBXO31 Gene

MalaCards: The human disease database

(3) MalaCards diseases for FBXO31 Gene - From: OMIM, ClinVar, Orphanet, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

FBX31_HUMAN
  • Mental retardation, autosomal recessive 45 (MRT45) [MIM:615979]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT45 manifestations include mild to moderate intellectual disability and dysmorphic features, including coarse facies, broad nasal bridge, fleshy nares, and thick, prominent lips. {ECO:0000269 PubMed:24623383}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for FBXO31

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FBXO31
genes like me logo Genes that share disorders with FBXO31: view

No data available for Genatlas for FBXO31 Gene

Publications for FBXO31 Gene

  1. Truncation of the E3 ubiquitin ligase component FBXO31 causes non- syndromic autosomal recessive intellectual disability in a Pakistani family. (PMID: 24623383) Mir A. … Vincent J.B. (Hum. Genet. 2014) 3 4 67
  2. Biophysical studies on interactions and assembly of full-size E3 ubiquitin ligase: suppressor of cytokine signaling 2 (SOCS2)-elongin BC-cullin 5-ring box protein 2 (RBX2). (PMID: 25505247) Bulatov E. … Ciulli A. (J. Biol. Chem. 2015) 3
  3. F-box protein FBXO31 directs degradation of MDM2 to facilitate p53-mediated growth arrest following genotoxic stress. (PMID: 26124108) Malonia S.K. … Green M.R. (Proc. Natl. Acad. Sci. U.S.A. 2015) 3
  4. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein M.Y. … Mann M. (Cell 2015) 3
  5. Genome-wide association study of peripheral neuropathy with D-drug-containing regimens in AIDS Clinical Trials Group protocol 384. (PMID: 24554482) Leger P.D. … Haas D.W. (J. Neurovirol. 2014) 3

Products for FBXO31 Gene

Sources for FBXO31 Gene

Content