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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

FBXO31 Gene

protein-coding   GIFtS: 46
GCID: GC16M087365

F-Box Protein 31

(Previous name: F-box only protein 31)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
F-Box Protein 311 2     Fbx312
FBX142 3 5     pp23862
F-Box Only Protein 311 2     Putative Breast Cancer Tumor-Suppressor2
FBXO142 5     SCF Ubiquitin Ligase Specificity Factor2
FBX313 5     

External Ids:    HGNC: 165101   Entrez Gene: 797912   Ensembl: ENSG000001032647   OMIM: 6091025   UniProtKB: Q5XUX03   

Export aliases for FBXO31 gene to outside databases

Previous GC identifers: GC00U991104 GC16M087145 GC16M085920 GC16M087362 GC16M073106


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 mast cell neoplasm, and breast cancer. GO annotations related to this gene include cyclin binding.

UniProtKB/Swiss-Prot: FBX31_HUMAN, Q5XUX0
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

Gene Wiki entry for FBXO31 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000016.9  NC_018927.2  NT_010498.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the FBXO31 gene promoter:
         Egr-3   Spz1   HOXA3   POU3F2 (N-Oct-5a)   POU3F2 (N-Oct-5b)   POU3F2   HNF-4alpha1   AREB6   Msx-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidFBXO31 promoter sequence
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Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FBXO31


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 16q24.2   Ensembl cytogenetic band:  16q24.2   HGNC cytogenetic band: 16q24

FBXO31 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FBXO31 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16M087365:  view genomic region     (about GC identifiers)

Start:
87,360,593 bp from pter      End:
87,425,748 bp from pter
Size:
65,156 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: FBX31_HUMAN, Q5XUX0 (See protein sequence)
Recommended Name: F-box only protein 31  
Size: 539 amino acids; 60664 Da
Subunit: Part of a SCF (SKP1-cullin-F-box) protein ligase complex
Developmental stage: Expression is cell-cycle regulated, and peaks at late G2 to early G1 phase (at protein level)
Sequence caution: Sequence=AAH12748.1; Type=Erroneous initiation; Sequence=AAL55855.1; Type=Frameshift;
Positions=496; Sequence=CAB55929.2; Type=Erroneous initiation;
Secondary accessions: Q5K680 Q8WYV1 Q96D73 Q9UFV4
Alternative splicing: 2 isoforms:  Q5XUX0-1   Q5XUX0-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for FBXO31: NX_Q5XUX0

Explore proteomics data for FBXO31 at MOPED 

Post-translational modifications:

  • UniProtKB: Phosphorylation at Ser-278 by ATM following gamma-irradiation results in its stabilization
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q5XUX0

  • FBXO31 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    FBXO31 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001269612.1  NP_079011.3  

    ENSEMBL proteins: 
     ENSP00000310841   ENSP00000455772   ENSP00000457578  

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    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0019005SCF ubiquitin ligase complex IDA19412162

    FBXO31 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    FBXO: F-boxes / "other"

    2 InterPro protein domains:
     IPR001810 F-box_dom_cyclin-like
     IPR026941 FBXO31

    Graphical View of Domain Structure for InterPro Entry Q5XUX0

    ProtoNet protein and cluster: Q5XUX0

    UniProtKB/Swiss-Prot: FBX31_HUMAN, Q5XUX0
    Similarity: Belongs to the FBXO31 family
    Similarity: Contains 1 F-box domain


    FBXO31 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: FBX31_HUMAN, Q5XUX0
    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
    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

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
    GO:0030332cyclin binding IPI19412162
         
    FBXO31 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for FBXO31:
     Upregulation of NF-kappaB path 

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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section



    UniProtKB/Swiss-Prot: FBX31_HUMAN, Q5XUX0
    Pathway: Protein modification; protein ubiquitination

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for FBXO31

    STRING Interaction Network Preview (showing 5 interactants - click image to see 24)

    5/24 Interacting proteins for FBXO31 (Q5XUX03 ENSP000003108414) via UniProtKB, MINT, STRING, and/or I2D (see all 24)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    CUL1Q136163, ENSP000003268044I2D: score=2 STRING: ENSP00000326804
    RBX1P628773, ENSP000002162254I2D: score=2 STRING: ENSP00000216225
    SKP1P632083, ENSP000002314874I2D: score=2 STRING: ENSP00000231487
    CCND1P243853, ENSP000002275074I2D: score=1 STRING: ENSP00000227507
    BTRCENSP000003592064STRING: ENSP00000359206
    About this table

    Gene Ontology (GO): 5 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006974response to DNA damage stimulus IDA19412162
    GO:0008054cyclin catabolic process IMP19412162
    GO:0016567protein ubiquitination IEA--
    GO:0031146SCF-dependent proteasomal ubiquitin-dependent protein catabolic process IDA19412162
    GO:0031571mitotic G1 DNA damage checkpoint IMP19412162

    FBXO31 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for FBXO31 (FBX31)

    Search CenterWatch for drugs/clinical trials and news about FBXO31 / FBX31

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for FBXO31 gene (2 alternative transcripts): 
    NM_001282683.1  NM_024735.4  

    Unigene Cluster for FBXO31:

    F-box protein 31
    Hs.567582  [show with all ESTs]
    Unigene Representative Sequence: AF318348
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000311635(uc002fjv.3 uc002fjw.3 uc010vot.2) ENST00000565593
    ENST00000563113 ENST00000561664 ENST00000569412 ENST00000563956 ENST00000567622

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    hsa-miR-519d hsa-miR-20a hsa-miR-106a hsa-miR-106b hsa-miR-3617 hsa-miR-519c-3p hsa-miR-519a hsa-miR-519b-3p
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    Additional mRNA sequence: 

    AF318348.1 AF428140.1 AK311122.1 AL117444.1 AY736035.1 BC012748.1 NR_024568.1 

    11 DOTS entries:

    DT.95277997  DT.116196  DT.99985379  DT.40211501  DT.92432396  DT.100699556  DT.120672925  DT.95087735 
    DT.95266578  DT.101970786  DT.92432392 

    24/257 AceView cDNA sequences (see all 257):

    AA854791 BP334339 BE351048 BI254086 BU741199 BM467749 BU541895 BU541763 
    AL117444 AI298379 CD369955 AA626878 BF110519 BG760339 AI378962 AI419213 
    AI383687 AI187995 AI741611 BM726429 BM726927 BC002985 CR621785 AA931611 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    FBXO31 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    FBXO31 Expression
    About this image


    See FBXO31 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for FBXO31

    SOURCE GeneReport for Unigene cluster: Hs.567582

    UniProtKB/Swiss-Prot: FBX31_HUMAN, Q5XUX0
    Tissue specificity: Highly expressed in brain. Expressed at moderate levels in most tissues, except bone marrow

        SABiosciences Expression via Pathway-Focused PCR Arrays including FBXO31: 
              Ubiquitination (Ubiquitylation) Pathway in human mouse rat
              Ubiquitin Ligases in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for FBXO31 gene from 4/10 species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Fbxo311 , 5 F-box protein 311, 5 86.26(n)1
    91.72(a)1
      8 (70.65 cM)5
    764541  NM_133765.41  NP_598526.31 
     1215494405 
    chicken
    (Gallus gallus)
    Aves FBXO311 F-box protein 31 75.23(n)
    78.57(a)
      415828  XM_414190.3  XP_414190.3 
    lizard
    (Anolis carolinensis)
    Reptilia FBXO316
    F-box protein 31
    72(a)
    1 ↔ 1
    GL343957.1(43524-66581)
    zebrafish
    (Danio rerio)
    Actinopterygii FBXO316
    F-box protein 31
    63(a)
    1 ↔ 1
    25(22531322-22564893)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1565 SNPs in FBXO31 are shown (see all 1565)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1488495901,2
    --87362451(+) TAATGC/TGCTTG 2 -- int10--------
    rs1425781561,2
    C--87362497(+) GAAACA/GGTTTT 2 -- int10--------
    rs740387251,2
    C--87362524(+) CCCTTA/TGGCCT 2 -- int16Minor allele frequency- T:0.13WA CSA NA EA 362
    rs1149908131,2
    F--87362525(+) CCTTAG/CGCCTC 2 -- int11Minor allele frequency- C:0.01WA 118
    rs1829933001,2
    --87362641(+) TGAGGC/TGCGCA 2 -- int10--------
    rs1423923371,2
    C--87362746(+) TGGCT-/GGTGCG 2 -- int10--------
    rs2007945941,2
    --87362829(+) AGAGA-/CCCCCG 2 -- int10--------
    rs1460693471,2
    C--87362951(+) GATCTA/GAGATT 2 -- ut31 nc-transcript-variant0--------
    rs1869635071,2
    --87363009(+) AAAGGA/GCACGC 2 -- ut31 nc-transcript-variant0--------
    rs1389393761,2
    C--87363147(+) GGCCAC/TAGTCA 2 -- ut31 nc-transcript-variant0--------

    HapMap Linkage Disequilibrium report for FBXO31 (87360593 - 87425748 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/12 variations for FBXO31 (see all 12):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2658266CNV Deletion23128226
    esv2714922CNV Deletion23290073
    dgv2950n71CNV Loss21882294
    nsv907155CNV Loss21882294
    nsv510694CNV Loss20534489
    nsv907156CNV Loss21882294
    nsv907153CNV Loss21882294
    nsv833320CNV Gain17160897
    nsv907154CNV Gain21882294
    nsv907157CNV Gain21882294

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 609102    OMIM disorders: --

    4 diseases for FBXO31:    About MalaCards
    mast cell neoplasm    breast cancer    major depressive disorder    esophagitis

    1 disease from the University of Copenhagen DISEASES database for FBXO31:
    Mast cell neoplasm

    FBXO31 for disorders           About GeneDecksing


    Export disorders for FBXO31 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for FBXO31 gene, integrated from 9 sources (see all 21):
    (articles sorted by number of sources associating them with FBXO31)
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    1. F-box protein FBXO31 mediates cyclin D1 degradation to induce G1 arrest after DNA damage. (PubMed id 19412162)1, 2 Santra M.K.... Green M.R. (2009)
    2. FBXO31 is the chromosome 16q24.3 senescence gene, a candidate breast tumor suppressor, and a component of an SCF complex. (PubMed id 16357137)1, 2 Kumar R.... Callen D.F. (2005)
    3. Systematic analysis and nomenclature of mammalian F-box proteins. (PubMed id 15520277)1, 2 Jin J....Harper J.W. (2004)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    5. The centrosomal E3 ubiquitin ligase FBXO31-SCF regulat es neuronal morphogenesis and migration. (PubMed id 23469015)1 Vadhvani M....Stegmuller J. (2013)
    6. The Skp2-SCF E3 ligase regulates Akt ubiquitination, g lycolysis, herceptin sensitivity, and tumorigenesis. (PubMed id 22632973)1 Chan C.H....Lin H.K. (2012)
    7. A mega-analysis of genome-wide association studies for major depressive disorder. (PubMed id 22472876)1 (2012)
    8. FBXO31 determines poor prognosis in esophageal squamo us cell carcinoma. (PubMed id 21537837)1 Kogo R....Mori M. (2011)
    9. FBXO31 is down-regulated and may function as a tumor s uppressor in hepatocellular carcinoma. (PubMed id 20664978)1 Huang H.L....Ma W.L. (2010)
    10. Dynamics of cullin-RING ubiquitin ligase network revea led by systematic quantitative proteomics. (PubMed id 21145461)1 Bennett E.J....Harper J.W. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 79791 HGNC: 16510 AceView: FBXO31 Ensembl:ENSG00000103264 euGenes: HUgn79791
    ECgene: FBXO31 H-InvDB: FBXO31

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for FBXO31 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for FBXO31 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for FBXO31 gene:
    Search GeneIP for patents involving FBXO31

    GeneCards and IP:
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