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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
External Ids for FBXL12 Gene
- HGNC: 13611
- Entrez Gene: 54850
- Ensembl: ENSG00000127452
- OMIM: 609079
- UniProtKB: Q9NXK8
Previous GeneCards Identifiers for FBXL12 Gene
- GC19M010042
- GC19M010143
- GC19M009766
- GC19M009781
- GC19M009920
- GC19M009501
Summaries 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 Innate Immune System and Class I MHC mediated antigen processing and presentation.
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
- HGNC(13611)
- Entrez Gene(54850)
- Ensembl(ENSG00000127452)
- OMIM(609079)
- UniProtKB(Q9NXK8)
- Open Targets Platform(ENSG00000127452)
- Search for FBXL12 at DataMed
- Search for FBXL12 at HumanCyc
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 Pubs
Promoters and enhancers for FBXL12 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 FBXL12 on the GeneHancer Hub at the UCSC Golden Path
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:
-
- 19p13.2 by HGNC
- 19p13.2 by Entrez Gene
- 19p13.2 by Ensembl
FBXL12 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- B3KSJ8
- Q9H5K4
Protein attributes for FBXL12 Gene
- Size:
- 326 amino acids
- Molecular mass:
- 37026 Da
- Quaternary structure:
-
- Interacts with SKP1 and CUL1.
Protein Expression for FBXL12 Gene
Post-translational modifications for FBXL12 Gene
Other Protein References for FBXL12 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for FBXL12
-
Abcam antibodies for FBXL12
- Invitrogen Antibodies for FBXL12 (AFLGC-FBXL12)
-
Biorbyt antibodies for FBXL12
-
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Protein Products
-
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- antibodies-online: Show 6 available FBXL12 Proteins ranked by validation data
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-
Quality Products:
-
Abcam proteins for FBXL12
Assay Products
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
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for FBXL12 Gene
- GenScript: Design optimal peptide antigens:
-
- F-box protein FBL12 (FXL12_HUMAN)
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
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IEA,IPI | 18660753 |
| GO:0061630 | ubiquitin protein ligase activity | IBA | -- |
Phenotypes for FBXL12 Gene
- MGI mutant phenotypes for FBXL12:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for FBXL12:
-
- Increased vaccinia virus (VACV) infection
- no effect
- Decreased viability
- Increased cell death HMECs cells
- Decreased vaccinia virus (VACV) infection
- shRNA abundance <= 50%
- Decreased shRNA abundance
- Increased transferrin (TF) endocytosis
- Upregulation of Wnt/beta-catenin pathway after WNT3A stimulation
- Upregulation of Wnt pathway
- Increased number of cells in monopolar arrest with EMD534085 (a Kinesin-5 inhibitor)
Animal Models for FBXL12 Gene
- MGI Knock Outs for FBXL12:
-
- Fbxl12 Fbxl12<tm1Kei>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
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-
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- MR228928
- MR229412
- RC200178
- RC200178L1
- RC200178L2
- RC200178L3
- RC200178L4
- RG200178
- RR214111
- RR214111L3
- RR214111L4
- MR203656L3V
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- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for FBXL12
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Cell Line Products
-
Horizon Cell Lines for FBXL12
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for FBXL12 Gene
Localization for FBXL12 Gene
| Compartment | Confidence |
|---|---|
| nucleus | 3 |
| cytosol | 3 |
| mitochondrion | 2 |
| extracellular | 1 |
| cytoskeleton | 1 |
| peroxisome | 0 |
- Mitochondria (2)
| 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 |
No data available for Subcellular locations from UniProtKB/Swiss-Prot for FBXL12 Gene
Pathways & Interactions for FBXL12 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Class I MHC mediated antigen processing and presentation | ||
| 2 | Innate Immune System |
.61
|
|
Pathways by source for FBXL12 Gene
4 Reactome pathways for FBXL12 Gene
UniProtKB/Swiss-Prot Q9NXK8-FXL12_HUMAN
- Pathway: Protein modification; protein ubiquitination.
Interacting Proteins for FBXL12 Gene
Selected Interacting proteins:
Q9NXK8-FXL12_HUMAN
ENSP00000247977
for FBXL12 Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for FBXL12
| 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 |
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 :
-
- ENST00000247977 1873 nts (view in UCSC)
- ENST00000585379 956 nts (view in UCSC)
- ENST00000586073 582 nts (view in UCSC)
- ENST00000586469 544 nts (view in UCSC)
- ENST00000586651 1736 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for FBXL12 - Select products 50% OFF >
- * FBXL12 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
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-
OriGene CRISPR knockouts for FBXL12
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-
Santa Cruz Biotechnology (SCBT) CRISPR for FBXL12
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for FBXL12
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Clone Products
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- MG203656
- MG204773
- MG216031
- MR203656
- MR203656L3
- MR203656L4
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- MR216031L3
- MR216031L4
- MR228928
- MR229412
- RC200178
- RC200178L1
- RC200178L2
- RC200178L3
- RC200178L4
- RG200178
- RR214111
- RR214111L3
- RR214111L4
- MR203656L3V
- MR203656L4V
- MR216031L3V
- MR216031L4V
- RC200178L1V
- RC200178L2V
- RC200178L3V
- RC200178L4V
- RR214111L3V
- RR214111L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for FBXL12
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for FBXL12
| 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
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.12439Evidence on tissue expression from TISSUES for FBXL12 Gene
- Intestine(4.3)
- Nervous system(3)
Primer Products
-
OriGene qPCR primer pairs for FBXL12
-
OriGene qPCR primer pairs and template standards for FBXL12
Gene Expression Assay Products
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | FBXL12 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | FBXL12 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | FBXL12 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Fbxl12 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Fbxl12 30 |
|
||
| Oppossum (Monodelphis domestica) |
Mammalia | FBXL12 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | LOC100859027 30 |
|
||
| Lizard (Anolis carolinensis) |
Reptilia | FBXL12 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | fbxl12 30 |
|
||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.8417 31 |
|
OneToOne |
- Species where no ortholog for FBXL12 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)
- Platypus (Ornithorhynchus anatinus)
- 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 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
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 |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv2669314 | CNV | deletion | 23128226 |
| esv3643642 | CNV | loss | 21293372 |
| nsv520683 | CNV | loss | 19592680 |
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
SNP Genotyping and Copy Number Assay Products
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
- Fbxl12 triggers G1 arrest by mediating degradation of calmodulin kinase I. (PMID: 23707388) Mallampalli RK … Agassandian M (Cellular signalling 2013) 3 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
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
- A family of mammalian F-box proteins. (PMID: 10531037) Winston JT … Harper JW (Current biology : CB 1999) 2 3
- A SARS-CoV-2 protein interaction map reveals targets for drug repurposing. (PMID: 32353859) Gordon DE … Krogan NJ (Nature 2020) 3
ExternalLinks
Products for FBXL12 Gene
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- OriGene qPCR primer pairs for FBXL12
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- MG203656
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- MR203656
- MR203656L3
- MR203656L4
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- MR216031L3
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- MR228928
- MR229412
- RC200178
- RC200178L1
- RC200178L2
- RC200178L3
- RC200178L4
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- RR214111
- RR214111L3
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- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
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- antibodies-online: Show 15 available FBXL12 Antibodies ranked by validation data
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- Boster Bio Antibodies for FBXL12
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Sources for FBXL12 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
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