Human Gene FBXL12 (ENST00000247977.9) from GENCODE V44
  Description: Homo sapiens F-box and leucine rich repeat protein 12 (FBXL12), transcript variant 1, mRNA. (from RefSeq NM_017703)
RefSeq Summary (NM_017703): 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].
Gencode Transcript: ENST00000247977.9
Gencode Gene: ENSG00000127452.9
Transcript (Including UTRs)
   Position: hg38 chr19:9,810,270-9,819,079 Size: 8,810 Total Exon Count: 3 Strand: -
Coding Region
   Position: hg38 chr19:9,810,896-9,818,813 Size: 7,918 Coding Exon Count: 3 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr19:9,810,270-9,819,079)mRNA (may differ from genome)Protein (326 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMGIneXtProtOMIM
PubMedReactomeUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: FXL12_HUMAN
DESCRIPTION: RecName: Full=F-box/LRR-repeat protein 12; AltName: Full=F-box and leucine-rich repeat protein 12; AltName: Full=F-box protein FBL12;
FUNCTION: Substrate-recognition component of the SCF (SKP1-CUL1-F- box protein)-type E3 ubiquitin ligase complex (By similarity).
SUBUNIT: Interacts with SKP1 and CUL1 (By similarity).
INTERACTION: Q9H0A6:RNF32; NbExp=2; IntAct=EBI-719790, EBI-724829;
SIMILARITY: Contains 1 F-box domain.
SIMILARITY: Contains 8 LRR (leucine-rich) repeats.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 11.86 RPKM in Fallopian Tube
Total median expression: 371.40 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -96.70266-0.364 Picture PostScript Text
3' UTR -167.58626-0.268 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001810 - F-box_dom_cyclin-like

ModBase Predicted Comparative 3D Structure on Q9NXK8
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologGenome BrowserNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD Ensembl  
Protein SequenceProtein Sequence Protein Sequence  
AlignmentAlignment Alignment  

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004842 ubiquitin-protein transferase activity
GO:0005515 protein binding

Biological Process:
GO:0000209 protein polyubiquitination
GO:0006511 ubiquitin-dependent protein catabolic process
GO:0016567 protein ubiquitination
GO:0043687 post-translational protein modification

Cellular Component:
GO:0000151 ubiquitin ligase complex
GO:0005737 cytoplasm
GO:0005829 cytosol


-  Descriptions from all associated GenBank mRNAs
  AK000195 - Homo sapiens cDNA FLJ20188 fis, clone COLF0561.
AK027004 - Homo sapiens cDNA: FLJ23351 fis, clone HEP14009.
AK093760 - Homo sapiens cDNA FLJ36441 fis, clone THYMU2012625, highly similar to F-box/LRR-repeat protein 12.
BX647073 - Homo sapiens mRNA; cDNA DKFZp779I1143 (from clone DKFZp779I1143).
BC001586 - Homo sapiens F-box and leucine-rich repeat protein 12, mRNA (cDNA clone MGC:1070 IMAGE:2966439), complete cds.
JD089015 - Sequence 70039 from Patent EP1572962.
JD459617 - Sequence 440641 from Patent EP1572962.
JD233192 - Sequence 214216 from Patent EP1572962.
JD469449 - Sequence 450473 from Patent EP1572962.
HQ447834 - Synthetic construct Homo sapiens clone IMAGE:100071177; CCSB005853_04 F-box and leucine-rich repeat protein 12 (FBXL12) gene, encodes complete protein.
KJ899024 - Synthetic construct Homo sapiens clone ccsbBroadEn_08418 FBXL12 gene, encodes complete protein.
CU674772 - Synthetic construct Homo sapiens gateway clone IMAGE:100018951 5' read FBXL12 mRNA.
AL389936 - Homo sapiens EST from clone 1609327, 5' end.
JD192944 - Sequence 173968 from Patent EP1572962.
JD527256 - Sequence 508280 from Patent EP1572962.
JD202054 - Sequence 183078 from Patent EP1572962.
JD422557 - Sequence 403581 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9NXK8 (Reactome details) participates in the following event(s):

R-HSA-8952620 NEDD8:AcM-UBE2M binds CRL1 E3 ubiquitin ligase complex
R-HSA-8956200 MyrG-DCUN1D3 binds CRL1 E3 ubiquitin ligase complex
R-HSA-983157 Interaction of E3 with substrate and E2-Ub complex
R-HSA-983147 Release of E3 from polyubiquitinated substrate
R-HSA-8955241 CAND1 binds cytosolic CRL E3 ubiquitin ligases
R-HSA-8952618 AcM-UBE2M transfers NEDD8 to CRL1 E3 ubiquitin ligase complex
R-HSA-8955289 COMMDs displace CAND1 from cytosolic CRL E3 ubiquitin ligase complexes
R-HSA-8956040 COP9 signalosome deneddylates cytosolic CRL E3 ubiquitin ligase complexes
R-HSA-983140 Transfer of Ub from E2 to substrate and release of E2
R-HSA-8951664 Neddylation
R-HSA-983168 Antigen processing: Ubiquitination & Proteasome degradation
R-HSA-597592 Post-translational protein modification
R-HSA-983169 Class I MHC mediated antigen processing & presentation
R-HSA-392499 Metabolism of proteins
R-HSA-1280218 Adaptive Immune System
R-HSA-168256 Immune System

-  Other Names for This Gene
  Alternate Gene Symbols: B3KSJ8, ENST00000247977.1, ENST00000247977.2, ENST00000247977.3, ENST00000247977.4, ENST00000247977.5, ENST00000247977.6, ENST00000247977.7, ENST00000247977.8, FBL12, FXL12_HUMAN, NM_017703, Q9H5K4, Q9NXK8, uc002mme.1, uc002mme.2, uc002mme.3, uc002mme.4
UCSC ID: ENST00000247977.9
RefSeq Accession: NM_017703
Protein: Q9NXK8 (aka FXL12_HUMAN or FXLC_HUMAN)
CCDS: CCDS12218.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.