Human Gene FBLL1 (ENST00000338333.5_5) from GENCODE V47lift37
  Description: fibrillarin like 1 (from RefSeq NM_001355274.2)
Gencode Transcript: ENST00000338333.5_5
Gencode Gene: ENSG00000188573.8_9
Transcript (Including UTRs)
   Position: hg19 chr5:167,956,310-167,957,639 Size: 1,330 Total Exon Count: 1 Strand: +
Coding Region
   Position: hg19 chr5:167,956,510-167,957,514 Size: 1,005 Coding Exon Count: 1 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr5:167,956,310-167,957,639)mRNA (may differ from genome)Protein (334 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMGIPubMedUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: FBLL1_HUMAN
DESCRIPTION: RecName: Full=rRNA/tRNA 2'-O-methyltransferase fibrillarin-like protein 1; EC=2.1.1.-;
FUNCTION: Involved in pre-rRNA processing. Utilizes the methyl donor S-adenosyl-L-methionine to catalyze the site-specific 2'- hydroxyl methylation of ribose moieties in pre-ribosomal RNA (By similarity).
SUBCELLULAR LOCATION: Nucleus, nucleolus. Note=Fibrillar region of the nucleolus (By similarity).
PTM: By homology to other fibrillarins, some or all of the N- terminal domain arginines are modified to asymmetric dimethylarginine (DMA).
SIMILARITY: Belongs to the methyltransferase superfamily. Fibrillarin family.

-  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

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 23.46 RPKM in Brain - Hypothalamus
Total median expression: 197.66 RPKM



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

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -83.40200-0.417 Picture PostScript Text
3' UTR -24.90125-0.199 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
IPR000692 - Fibrillarin
IPR020813 - Fibrillarin_CS

Pfam Domains:
PF01269 - Fibrillarin

SCOP Domains:
53335 - S-adenosyl-L-methionine-dependent methyltransferases

ModBase Predicted Comparative 3D Structure on A6NHQ2
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  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
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003723 RNA binding
GO:0008168 methyltransferase activity
GO:0008649 rRNA methyltransferase activity
GO:0016740 transferase activity
GO:1990259 histone-glutamine methyltransferase activity

Biological Process:
GO:0000494 box C/D snoRNA 3'-end processing
GO:0006364 rRNA processing
GO:0031167 rRNA methylation
GO:0032259 methylation
GO:1990258 histone glutamine methylation

Cellular Component:
GO:0001650 fibrillar center
GO:0005634 nucleus
GO:0005730 nucleolus
GO:0015030 Cajal body
GO:0031428 box C/D snoRNP complex
GO:0032040 small-subunit processome


-  Descriptions from all associated GenBank mRNAs
  JD458351 - Sequence 439375 from Patent EP1572962.
AX721195 - Sequence 155 from Patent WO0220754.

-  Other Names for This Gene
  Alternate Gene Symbols: A6NHQ2, ENST00000338333.1, ENST00000338333.2, ENST00000338333.3, ENST00000338333.4, FBLL1_HUMAN, NM_001355274, R4GMW7, uc317uzk.1, uc317uzk.2
UCSC ID: ENST00000338333.5_5
RefSeq Accession: NM_001355274.2
Protein: A6NHQ2 (aka FBLL1_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

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