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Aliases for FBXL12 Gene

Aliases for FBXL12 Gene

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

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 Immune System and Class I MHC mediated antigen processing and presentation.

UniProtKB/Swiss-Prot 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.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FBXL12 Gene

Genomics for FBXL12 Gene

Regulatory Elements for FBXL12 Gene

Enhancers for FBXL12 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH19F010100 1.5 FANTOM5 ENCODE 81.4 -276.6 -276572 8.3 HDGF PKNOX1 CREB3L1 MLX WRNIP1 ZFP64 ARID4B SIN3A YBX1 DMAP1 FBXL12 ZNF699 ZNF561 LOC100419831 ZNF559 TIMM29 YIPF2 ZNF562 EIF3G ZNF121
GH19F010267 1.2 ENCODE 54.2 -442.5 -442522 5.6 MLX CREB3L1 ZFP64 DMAP1 YY1 SLC30A9 ZNF416 ZNF143 ZNF263 SP3 ZNF699 FBXL12 ZNF559 LOC100419831 ZNF561 ZNF426 RAVER1 TIMM29 EIF3G ZNF121
GH19F010379 1.1 ENCODE 55.5 -552.7 -552711 1.9 HDGF PKNOX1 CREB3L1 WRNIP1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 FBXL12 ZNF561 LOC100419831 RAVER1 TIMM29 ZNF426 YIPF2 ZNF121 ZNF562 EIF3G
GH19F010717 1.4 FANTOM5 ENCODE 41.5 -891.3 -891340 3.7 HDGF PKNOX1 ARNT CREB3L1 WRNIP1 ARID4B SIN3A FEZF1 ZNF2 YY1 FBXL12 EIF3G DOCK6 ZNF627 LOC100419831 RAVER1 S1PR2 HNRNPA1P10 KANK2 SLC44A2
GH19F010746 1.8 FANTOM5 Ensembl ENCODE 29.4 -929.4 -929398 20.8 MLX DMAP1 YY1 SLC30A9 ZNF143 ZNF263 MCM3 SP3 NFYC TBX21 FBXL12 HNRNPA1P10 SLC44A2 CDKN2D ZNF627 RAVER1 DNM2 KRI1 MIR638 PRKCSH
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around FBXL12 on UCSC Golden Path with GeneCards custom track

Promoters for FBXL12 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001015280 316 2601 HDGF PKNOX1 ZFP64 ARID4B SIN3A DMAP1 SLC30A9 KLF13 SP3 SP5

Genomic Location for FBXL12 Gene

Chromosome:
19
Start:
9,810,267 bp from pter
End:
9,827,816 bp from pter
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 Lys 305
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for FBXL12 Gene

Domains & Families for FBXL12 Gene

Gene Families for FBXL12 Gene

Protein Domains for FBXL12 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for FBXL12 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9NXK8

UniProtKB/Swiss-Prot:

FXL12_HUMAN :
  • Contains 1 F-box domain.
  • Contains 8 LRR (leucine-rich) repeats.
Domain:
  • Contains 1 F-box domain.
Similarity:
  • Contains 8 LRR (leucine-rich) repeats.
genes like me logo Genes that share domains with FBXL12: view

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.

Gene Ontology (GO) - Molecular Function for FBXL12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 18660753
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

Inhibitory RNA Products

Flow Cytometry 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
cytosol 5
mitochondrion 3
peroxisome 1

Gene Ontology (GO) - Cellular Components for FBXL12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000151 ubiquitin ligase complex IEA --
GO:0005737 cytoplasm IEA --
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:0006511 ubiquitin-dependent protein catabolic process IEA --
GO:0016567 protein ubiquitination IEA --
genes like me logo Genes that share ontologies with FBXL12: view

No data available for SIGNOR curated interactions for FBXL12 Gene

Transcripts for FBXL12 Gene

Unigene Clusters for FBXL12 Gene

F-box and leucine-rich repeat protein 12:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry 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
ECgene alternative splicing isoforms 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, PaxDb, MaxQB, and MOPED for FBXL12 Gene



NURSA nuclear receptor signaling pathways regulating expression of FBXL12 Gene:

FBXL12

SOURCE GeneReport for Unigene cluster for FBXL12 Gene:

Hs.12439
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 and mRNA Expression by UniProt/SwissProt 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 34 35
  • 99.49 (n)
dog
(Canis familiaris)
Mammalia FBXL12 34 35
  • 90.59 (n)
cow
(Bos Taurus)
Mammalia FBXL12 34 35
  • 90.29 (n)
mouse
(Mus musculus)
Mammalia Fbxl12 34 16 35
  • 86.61 (n)
rat
(Rattus norvegicus)
Mammalia Fbxl12 34
  • 86.08 (n)
oppossum
(Monodelphis domestica)
Mammalia FBXL12 35
  • 45 (a)
OneToOne
chicken
(Gallus gallus)
Aves LOC100859027 34
  • 53.08 (n)
lizard
(Anolis carolinensis)
Reptilia FBXL12 35
  • 38 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fbxl12 34
  • 46.71 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8417 35
  • 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)

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 from dbSNP and Humsavar for FBXL12 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs10409680 -- 9,820,587(+) acaca(C/T)aCACA upstream-variant-2KB
rs10409695 -- 9,820,593(+) ACACA(C/T)ACACA upstream-variant-2KB
rs10410467 -- 9,820,562(+) tgtat(A/G)tatat upstream-variant-2KB
rs10416068 -- 9,820,563(+) gtata(C/T)atata upstream-variant-2KB
rs10416236 -- 9,818,362(+) ggatg(A/G)ggaaa intron-variant

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)

Relevant External Links 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

Relevant External Links for FBXL12

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 R.K. … Agassandian M. (Cell. Signal. 2013) 3 4 64
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  4. A family of mammalian F-box proteins. (PMID: 10531037) Winston J.T. … Harper J.W. (Curr. Biol. 1999) 2 3 64
  5. FBXL12-Mediated Degradation of ALDH3 is Essential for Trophoblast Differentiation During Placental Development. (PMID: 26124079) Nishiyama M. … Nakayama K.I. (Stem Cells 2015) 3 64

Products for FBXL12 Gene

Sources for FBXL12 Gene

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