Members of the F-box protein family, such as FBXL12, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction ... See more...

Aliases for FBXL12 Gene

Aliases for FBXL12 Gene

  • F-Box And Leucine Rich Repeat Protein 12 2 3 5
  • F-Box/LRR-Repeat Protein 12 3 4
  • F-Box Protein FBL12 3 4
  • F-Box And Leucine-Rich Repeat Protein 12 4
  • Fbl12 3
  • FBL12 4

External Ids for FBXL12 Gene

Previous GeneCards Identifiers for FBXL12 Gene

  • GC19M010042
  • GC19M010143
  • GC19M009766
  • GC19M009781
  • GC19M009920
  • GC19M009501

Summaries for FBXL12 Gene

Entrez Gene Summary for FBXL12 Gene

  • Members of the F-box protein family, such as FBXL12, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]

GeneCards Summary for FBXL12 Gene

FBXL12 (F-Box And Leucine Rich Repeat Protein 12) is a Protein Coding gene. Among its related pathways are Class I MHC mediated antigen processing and presentation and Innate Immune System.

UniProtKB/Swiss-Prot Summary for FBXL12 Gene

  • Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex. Mediates the polyubiquitination and proteasomal degradation of CAMK1 leading to disruption of cyclin D1/CDK4 complex assembly which results in G1 cell cycle arrest in lung epithelia.

Additional gene information for FBXL12 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FBXL12 Gene

Genomics for FBXL12 Gene

GeneHancer (GH) Regulatory Elements for FBXL12 Gene

Promoters and enhancers for FBXL12 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
GH19J009817 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 500.4 +9.1 9066 3.5 ZBTB40 ZNF217 EP300 MYC NRF1 POLR2G SP1 PHF8 ZNF639 POLR2A ENSG00000200237 RPL10P15 FBXL12 ZNF561 EIF3G piR-55985-092
GH19J009826 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 500.7 +0.2 215 3.2 FOXK2 ZBTB40 ZNF217 EP300 TCF12 SIN3A NRF1 USF1 POLR2G SP1 FBXL12 NONHSAG024755.2 UBL5 PIN1 RF00017-2797
GH19J010100 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 64.7 -276.6 -276571 8.3 RXRA ZBTB40 ZNF217 EP300 SIN3A MYC NRF1 POLR2G USF1 SP1 PPAN ANGPTL6 PPAN-P2RY11 ZNF699 LOC100419831 FBXL12 ZNF561 ILF3 ZNF317 ZNF559
GH19J010379 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 68.6 -552.7 -552685 2.2 ZNF217 EP300 SIN3A NRF1 POLR2G SP1 PHF8 FOS TEAD4 ZIC2 TYK2 lnc-CDC37-1 lnc-PDE4A-3 ILF3 FBXL12 KRI1 ZNF561 RAVER1 LOC100419831 PPAN
GH19J010110 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE 62.6 -285.2 -285212 5.2 CTCF POLR2G SP1 ZNF10 EP300 ZIC2 SNRNP70 ZBTB10 POLR2A TCF7 P2RY11 piR-54092 ILF3 ZNF266 ZNF317 ZNF699 FBXL12 KRI1 PPAN ZNF559
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FBXL12 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FBXL12

Top Transcription factor binding sites by QIAGEN in the FBXL12 gene promoter:
  • AP-1
  • ATF-2
  • c-Jun
  • CREB
  • deltaCREB
  • E47
  • Elk-1
  • LCR-F1
  • Pax-5
  • STAT3

Genomic Locations for FBXL12 Gene

Genomic Locations for FBXL12 Gene
chr19:9,810,267-9,827,816
(GRCh38/hg38)
Size:
17,550 bases
Orientation:
Minus strand
chr19:9,920,943-9,938,492
(GRCh37/hg19)
Size:
17,550 bases
Orientation:
Minus strand

Genomic View for FBXL12 Gene

Genes around FBXL12 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FBXL12 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FBXL12 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FBXL12 Gene

Proteins for FBXL12 Gene

  • Protein details for FBXL12 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NXK8-FXL12_HUMAN
    Recommended name:
    F-box/LRR-repeat protein 12
    Protein Accession:
    Q9NXK8
    Secondary Accessions:
    • B3KSJ8
    • Q9H5K4

    Protein attributes for FBXL12 Gene

    Size:
    326 amino acids
    Molecular mass:
    37026 Da
    Quaternary structure:
    • Interacts with SKP1 and CUL1.

    Alternative splice isoforms for FBXL12 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FBXL12 Gene

Post-translational modifications for FBXL12 Gene

  • Ubiquitination at Lys305
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for FBXL12 Gene

Domains & Families for FBXL12 Gene

Gene Families for FBXL12 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for FBXL12 Gene

Suggested Antigen Peptide Sequences for FBXL12 Gene

GenScript: Design optimal peptide antigens:
  • F-box protein FBL12 (FXL12_HUMAN)
genes like me logo Genes that share domains with FBXL12: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for FBXL12 Gene

Function for FBXL12 Gene

Molecular function for FBXL12 Gene

UniProtKB/Swiss-Prot Function:
Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex. Mediates the polyubiquitination and proteasomal degradation of CAMK1 leading to disruption of cyclin D1/CDK4 complex assembly which results in G1 cell cycle arrest in lung epithelia.

Phenotypes From GWAS Catalog for FBXL12 Gene

Gene Ontology (GO) - Molecular Function for FBXL12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI,IEA 18660753
GO:0061630 contributes_to ubiquitin protein ligase activity IBA 21873635
genes like me logo Genes that share ontologies with FBXL12: view
genes like me logo Genes that share phenotypes with FBXL12: view

Animal Models for FBXL12 Gene

MGI Knock Outs for FBXL12:

Animal Model Products

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for FBXL12 Gene

Localization for FBXL12 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 FBXL12 gene
Compartment Confidence
nucleus 3
cytosol 3
mitochondrion 2
plasma membrane 1
cytoskeleton 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for FBXL12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000151 ubiquitin ligase complex IEA --
GO:0005634 nucleus IBA 21873635
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0019005 SCF ubiquitin ligase complex IBA 21873635
genes like me logo Genes that share ontologies with FBXL12: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for FBXL12 Gene

Pathways & Interactions for FBXL12 Gene

genes like me logo Genes that share pathways with FBXL12: view

UniProtKB/Swiss-Prot Q9NXK8-FXL12_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

Gene Ontology (GO) - Biological Process for FBXL12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000086 G2/M transition of mitotic cell cycle IBA 21873635
GO:0000209 protein polyubiquitination TAS --
GO:0006511 ubiquitin-dependent protein catabolic process IEA --
GO:0016567 protein ubiquitination IEA --
GO:0031146 SCF-dependent proteasomal ubiquitin-dependent protein catabolic process IBA 21873635
genes like me logo Genes that share ontologies with FBXL12: view

No data available for SIGNOR curated interactions for FBXL12 Gene

Drugs & Compounds for FBXL12 Gene

No Compound Related Data Available

Transcripts for FBXL12 Gene

mRNA/cDNA for FBXL12 Gene

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

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for FBXL12 Gene

ExUns: 1a · 1b · 1c · 1d · 1e · 1f · 1g ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b · 6c · 6d · 6e · 6f · 6g · 6h · 6i · 6j
SP1: - - - - -
SP2: - - - -
SP3: - - - - -
SP4: - - - - - -
SP5: - - - - -
SP6: - - - -
SP7: - - - - - -
SP8: - - - - - - -
SP9:
SP10: - - - - -
SP11:

Relevant External Links for FBXL12 Gene

GeneLoc Exon Structure for
FBXL12

Expression for FBXL12 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for FBXL12 Gene

Protein differential expression in normal tissues from HIPED for FBXL12 Gene

This gene is overexpressed in Breast (30.0), Serum (18.7), and Bone (15.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for FBXL12 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FBXL12

SOURCE GeneReport for Unigene cluster for FBXL12 Gene:

Hs.12439

Evidence on tissue expression from TISSUES for FBXL12 Gene

  • Intestine(4.2)
  • Nervous system(2.7)
genes like me logo Genes that share expression patterns with FBXL12: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for FBXL12 Gene

Orthologs for FBXL12 Gene

This gene was present in the common ancestor of chordates.

Orthologs for FBXL12 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FBXL12 31 30
  • 99.49 (n)
OneToOne
dog
(Canis familiaris)
Mammalia FBXL12 31 30
  • 90.59 (n)
OneToOne
cow
(Bos Taurus)
Mammalia FBXL12 31 30
  • 90.29 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Fbxl12 17 31 30
  • 86.61 (n)
rat
(Rattus norvegicus)
Mammalia Fbxl12 30
  • 86.08 (n)
oppossum
(Monodelphis domestica)
Mammalia FBXL12 31
  • 45 (a)
OneToOne
chicken
(Gallus gallus)
Aves LOC100859027 30
  • 53.08 (n)
lizard
(Anolis carolinensis)
Reptilia FBXL12 31
  • 38 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fbxl12 30
  • 46.71 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8417 31
  • 23 (a)
OneToOne
Species where no ortholog for FBXL12 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)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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)
  • zebrafish (Danio rerio)

Evolution for FBXL12 Gene

ENSEMBL:
Gene Tree for FBXL12 (if available)
TreeFam:
Gene Tree for FBXL12 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for FBXL12: view image

Paralogs for FBXL12 Gene

Pseudogenes.org Pseudogenes for FBXL12 Gene

genes like me logo Genes that share paralogs with FBXL12: view

No data available for Paralogs for FBXL12 Gene

Variants for FBXL12 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FBXL12 Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
VAR_064712 - p.Leu63His

Additional dbSNP identifiers (rs#s) for FBXL12 Gene

Structural Variations from Database of Genomic Variants (DGV) for FBXL12 Gene

Variant ID Type Subtype PubMed ID
esv2669314 CNV deletion 23128226
esv3643642 CNV loss 21293372
nsv520683 CNV loss 19592680

Variation tolerance for FBXL12 Gene

Residual Variation Intolerance Score: 76.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.89; 48.55% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FBXL12 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
FBXL12

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FBXL12 Gene

Disorders for FBXL12 Gene

Additional Disease Information for FBXL12

No disorders were found for FBXL12 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for FBXL12 Gene

Publications for FBXL12 Gene

  1. Fbxl12 triggers G1 arrest by mediating degradation of calmodulin kinase I. (PMID: 23707388) Mallampalli RK … Agassandian M (Cellular signalling 2013) 3 4 54
  2. 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 54
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  4. A family of mammalian F-box proteins. (PMID: 10531037) Winston JT … Harper JW (Current biology : CB 1999) 2 3 54
  5. CTDP1 regulates breast cancer survival and DNA repair through BRCT-specific interactions with FANCI. (PMID: 31240132) Hu WF … Woods NT (Cell death discovery 2019) 3 54

Products for FBXL12 Gene

Sources for FBXL12 Gene