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 ubiquitin... See more...

Aliases for FBXO31 Gene

Aliases for FBXO31 Gene

  • F-Box Protein 31 2 3 5
  • F-Box Only Protein 31 2 3 4
  • FBX14 2 3 4
  • FBXO14 2 3
  • Fbx31 2 3
  • SCF Ubiquitin Ligase Specificity Factor 3
  • Putative Breast Cancer Tumor-Suppressor 3
  • MGC15419 2
  • Pp2386 3
  • FBXO31 5
  • MRT45 3
  • FBX31 4

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 Autosomal Recessive Non-Syndromic Intellectual Disability. Among its related pathways are Innate Immune System and Class I MHC mediated antigen processing and presentation. Gene Ontology (GO) annotations related to this gene include cyclin binding. An important paralog of this gene is FBXO39.

UniProtKB/Swiss-Prot Summary 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 CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FBXO31 Gene

Genomics for FBXO31 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for FBXO31 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FBXO31 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FBXO31

Top Transcription factor binding sites by QIAGEN in the FBXO31 gene promoter:
  • AREB6
  • Egr-3
  • HNF-4alpha1
  • HOXA3
  • Msx-1
  • POU3F2
  • POU3F2 (N-Oct-5a)
  • POU3F2 (N-Oct-5b)
  • Spz1

Genomic Locations for FBXO31 Gene

Latest Assembly
chr16:87,326,987-87,392,142
(GRCh38/hg38)
Size:
65,156 bases
Orientation:
Minus strand

Previous Assembly
chr16:87,360,593-87,425,727
(GRCh37/hg19 by Entrez Gene)
Size:
65,135 bases
Orientation:
Minus strand

chr16:87,360,593-87,425,748
(GRCh37/hg19 by Ensembl)
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; Evidence={ECO:0000305}; Sequence=CAB55929.2; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for FBXO31 Gene

    Alternative splice isoforms for FBXO31 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FBXO31 Gene

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

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for FBXO31 Gene

Suggested Antigen Peptide Sequences for FBXO31 Gene

GenScript: Design optimal peptide antigens:
  • F-box only protein 31 (FBX31_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q5XUX0

UniProtKB/Swiss-Prot:

FBX31_HUMAN :
  • Belongs to the FBXO31 family.
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.

Phenotypes From GWAS Catalog for FBXO31 Gene

Gene Ontology (GO) - Molecular Function for FBXO31 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA,IPI 19412162
GO:0030332 cyclin binding IEA,IPI 19412162
genes like me logo Genes that share ontologies with FBXO31: view
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:
  • Fbxo31 Fbxo31<tm1b(EUCOMM)Wtsi>

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FBXO31

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for FBXO31 Gene

Localization for FBXO31 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FBXO31 gene
Compartment Confidence
cytosol 4
cytoskeleton 2
mitochondrion 2
extracellular 1
nucleus 1
plasma membrane 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Golgi apparatus (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for FBXO31 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005813 centrosome IEA --
GO:0005829 cytosol TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0019005 SCF ubiquitin ligase complex IEA,IDA 19412162
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 IEA,IDA 19412162
GO:0007049 cell cycle IEA --
GO:0016567 protein ubiquitination IEA --
GO:0031145 anaphase-promoting complex-dependent catabolic process IMP 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

mRNA/cDNA for FBXO31 Gene

2 REFSEQ mRNAs :
17 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FBXO31

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

No ASD Table

Relevant External Links for FBXO31 Gene

GeneLoc Exon Structure for
FBXO31

Expression for FBXO31 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for FBXO31 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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 and MOPED for FBXO31 Gene



Protein tissue co-expression partners for FBXO31 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FBXO31

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.

Evidence on tissue expression from TISSUES for FBXO31 Gene

  • Nervous system(3.7)
  • Muscle(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for FBXO31 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • outer ear
  • pharynx
  • skull
  • tooth
Thorax:
  • chest wall
  • heart
Abdomen:
  • abdominal wall
Limb:
  • foot
  • lower limb
General:
  • blood vessel
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
genes like me logo Genes that share expression patterns with FBXO31: view

Primer products for research

No data available for 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
Chimpanzee
(Pan troglodytes)
Mammalia FBXO31 30 31
  • 99.38 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia FBXO31 30 31
  • 86.75 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Fbxo31 30 17 31
  • 86.26 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Fbxo31 30
  • 86.19 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia FBXO31 31
  • 86 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia FBXO31 30 31
  • 84.98 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia FBXO31 31
  • 80 (a)
OneToOne
Chicken
(Gallus gallus)
Aves -- 31
  • 79 (a)
OneToMany
LOC100857445 30
  • 78.29 (n)
-- 31
  • 78 (a)
OneToMany
-- 31
  • 73 (a)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia FBXO31 31
  • 72 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia fbxo31 30
  • 68.08 (n)
Zebrafish
(Danio rerio)
Actinopterygii si:ch211-147k9.7 30
  • 69.71 (n)
FBXO31 31
  • 65 (a)
OneToOne
Species where no ortholog for FBXO31 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for FBXO31: view image

Paralogs for FBXO31 Gene

Paralogs for FBXO31 Gene

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

Variants for FBXO31 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FBXO31 Gene

SNP ID Clinical significance and condition Chr 16 pos Variation AA Info Type
rs139144108 Likely Benign: not provided 87,347,195(-) G/A
NM_024735.5(FBXO31):c.468C>T (p.Tyr156=)
SYNONYMOUS_VARIANT,FIVE_PRIME_UTR
rs139174683 Benign: not provided 87,333,945(-) G/A
NM_024735.5(FBXO31):c.1338C>T (p.Phe446=)
SYNONYMOUS
rs140641305 Benign: not provided 87,342,892(-) G/A
NM_024735.5(FBXO31):c.717C>T (p.Ser239=)
SYNONYMOUS
rs142281776 Benign: not provided 87,383,661(-) C/G
NM_024735.5(FBXO31):c.84G>C (p.Thr28=)
SYNONYMOUS_VARIANT,INTRON
rs144701197 Likely Benign: not provided 87,383,423(-) T/G
NM_024735.5(FBXO31):c.322A>C (p.Arg108=)
SYNONYMOUS_VARIANT,INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for FBXO31 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

Variant ID Type Subtype PubMed ID
dgv499n67 CNV gain 20364138
esv2658266 CNV deletion 23128226
esv2714922 CNV deletion 23290073
esv3639509 CNV gain 21293372
esv3639511 CNV loss 21293372
esv3639512 CNV gain 21293372
esv3639513 CNV loss 21293372
esv3639514 CNV loss 21293372
nsv1062525 CNV gain 25217958
nsv428330 CNV gain 18775914
nsv510694 CNV deletion 20534489
nsv833320 CNV gain 17160897

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)

Additional Variant Information for FBXO31 Gene

Human Gene Mutation Database (HGMD)
FBXO31
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FBXO31

SNP Genotyping and Copy Number Assays for research

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

Disorders for FBXO31 Gene

MalaCards: The human disease database

(2) MalaCards diseases for FBXO31 Gene - From: OMI, CVR, GTR, ORP, and GCD

Disorder Aliases PubMed IDs
mental retardation, autosomal recessive 45
  • mrt45
autosomal recessive non-syndromic intellectual disability
  • autosomal recessive mental retardation
- 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 variants affecting the gene represented in this entry.

Additional Disease Information for 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 JB (Human genetics 2014) 3 4 74
  2. F-box protein FBXO31 mediates cyclin D1 degradation to induce G1 arrest after DNA damage. (PMID: 19412162) Santra MK … Green MR (Nature 2009) 3 4
  3. FBXO31 is the chromosome 16q24.3 senescence gene, a candidate breast tumor suppressor, and a component of an SCF complex. (PMID: 16357137) Kumar R … Callen DF (Cancer research 2005) 3 4
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  5. Systematic analysis and nomenclature of mammalian F-box proteins. (PMID: 15520277) Jin J … Harper JW (Genes & development 2004) 3 4

Products for FBXO31 Gene

Sources for FBXO31 Gene