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Aliases for FBXO31 Gene

Aliases for FBXO31 Gene

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

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

Additional gene information for FBXO31 Gene

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

Genomics for FBXO31 Gene

GeneHancer (GH) Regulatory Elements for FBXO31 Gene

Promoters and enhancers for FBXO31 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH16I087380 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 578.1 +9.2 9156 5.3 CLOCK MLX ZFP64 DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 FBXO31 MAP1LC3B TRM-CAT6-1 GC16M087385 ZCCHC14 PIR52096
GH16I087390 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 561.1 -0.6 -569 4 HDGF PKNOX1 CLOCK SMAD1 MLX ARNT ARID4B SIN3A DMAP1 YY1 FBXO31 MAP1LC3B MTHFSD BANP KLHDC4 ZCCHC14 ENSG00000261592
GH16I087947 Promoter/Enhancer 2.9 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10.1 -560.8 -560757 10.5 CLOCK MLX ZFP64 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 BANP ZC3H18 ZCCHC14 GALNS ENSG00000269901 FBXO31 LOC400553 SLC7A5 PIR49178
GH16I087386 Enhancer 1.3 ENCODE dbSUPER 19 +4.1 4103 4 CLOCK MLX FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF416 MTHFSD FBXO31 ZCCHC14 KLHDC4 BANP GC16M087385 MAP1LC3B TRM-CAT6-1
GH16I087787 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 11.2 -398.0 -398000 4.9 PKNOX1 FOXA2 MLX ZFP64 ARID4B NEUROD1 SIN3A DMAP1 YY1 SLC30A9 CA5A BANP FBXO31 CTU2 KLHDC4 LOC102724467 ENSG00000260177
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around FBXO31 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the FBXO31 gene promoter:

Genomic Locations for FBXO31 Gene

Genomic Locations for FBXO31 Gene
chr16:87,326,987-87,392,142
(GRCh38/hg38)
Size:
65,156 bases
Orientation:
Minus strand
chr16:87,360,593-87,425,748
(GRCh37/hg19)

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

Post-translational modifications for FBXO31 Gene

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

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:

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:0004842 ubiquitin-protein transferase activity TAS --
GO:0005515 protein binding 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:

Inhibitory RNA Products

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 5
cytoskeleton 2
mitochondrion 2
plasma membrane 1

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 IDA,IEA 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

Unigene Clusters for FBXO31 Gene

F-box protein 31:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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



Protein tissue co-expression partners for FBXO31 Gene

NURSA nuclear receptor signaling pathways regulating expression of FBXO31 Gene:

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)

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
Organs:
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

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
chimpanzee
(Pan troglodytes)
Mammalia FBXO31 33 34
  • 99.38 (n)
cow
(Bos Taurus)
Mammalia FBXO31 33 34
  • 86.75 (n)
mouse
(Mus musculus)
Mammalia Fbxo31 33 16 34
  • 86.26 (n)
rat
(Rattus norvegicus)
Mammalia Fbxo31 33
  • 86.19 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia FBXO31 34
  • 86 (a)
OneToOne
dog
(Canis familiaris)
Mammalia FBXO31 33 34
  • 84.98 (n)
oppossum
(Monodelphis domestica)
Mammalia FBXO31 34
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves -- 34
  • 79 (a)
OneToMany
LOC100857445 33
  • 78.29 (n)
-- 34
  • 78 (a)
OneToMany
-- 34
  • 73 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia FBXO31 34
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fbxo31 33
  • 68.08 (n)
zebrafish
(Danio rerio)
Actinopterygii si:ch211-147k9.7 33
  • 69.71 (n)
FBXO31 34
  • 65 (a)
OneToOne
Species where no ortholog for FBXO31 was found in the sources mined by GeneCards:
  • 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 Variation AA Info Type
rs587777703 pathogenic, Mental retardation, autosomal recessive 45 87,335,448(-) CAGGCA/T coding_sequence_variant, frameshift
rs34412175 likely-benign, not provided 87,334,102(-) C/G/T coding_sequence_variant, missense_variant
rs370916343 likely-benign, not specified 87,360,308(-) G/A 5_prime_UTR_variant, coding_sequence_variant, synonymous_variant
rs780050895 likely-benign, not specified 87,383,628(-) G/A/T coding_sequence_variant, intron_variant, synonymous_variant
rs371015325 uncertain-significance, not specified 87,334,284(-) G/A coding_sequence_variant, synonymous_variant

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

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: HGMD, OMIM, ClinVar, Orphanet, and GeneCards

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 mutations 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 58
  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 58
  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 58
  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 58
  5. Systematic analysis and nomenclature of mammalian F-box proteins. (PMID: 15520277) Jin J … Harper JW (Genes & development 2004) 3 4 58

Products for FBXO31 Gene

Sources for FBXO31 Gene

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