Human Gene FBL (ENST00000221801.8_8) from GENCODE V47lift37
  Description: fibrillarin (from RefSeq NM_001436.4)
Gencode Transcript: ENST00000221801.8_8
Gencode Gene: ENSG00000105202.9_16
Transcript (Including UTRs)
   Position: hg19 chr19:40,325,098-40,337,019 Size: 11,922 Total Exon Count: 9 Strand: -
Coding Region
   Position: hg19 chr19:40,325,178-40,336,940 Size: 11,763 Coding Exon Count: 9 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr19:40,325,098-40,337,019)mRNA (may differ from genome)Protein (321 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: FBRL_HUMAN
DESCRIPTION: RecName: Full=rRNA 2'-O-methyltransferase fibrillarin; EC=2.1.1.-; AltName: Full=34 kDa nucleolar scleroderma antigen;
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. Site specificity is provided by a guide RNA that base pairs with the substrate. Methylation occurs at a characteristic distance from the sequence involved in base pairing with the guide RNA.
SUBUNIT: Interacts with NOLC1 (By similarity). Component of box C/D small nucleolar ribonucleoprotein (snoRNP) particles that contain NHP2L1, FBL, NOP5 and NOP56, plus a guide RNA. It is associated with the U3, U8, U13, X and Y small nuclear RNAs. Component of several ribosomal and nucleolar protein complexes. Interacts with PRMT5 and UTP20. Interacts with DDX5.
INTERACTION: P17844:DDX5; NbExp=6; IntAct=EBI-358318, EBI-351962;
SUBCELLULAR LOCATION: Nucleus, nucleolus. Note=Fibrillar region of the nucleolus.
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


-  MalaCards Disease Associations
  MalaCards Gene Search: FBL
Diseases sorted by gene-association score: systemic scleroderma (5), myositis (4), esophageal varix (2), dyskeratosis congenita (1)

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

+  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: 164.94 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 2816.95 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 -29.0079-0.367 Picture PostScript Text
3' UTR -15.3080-0.191 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
PF08704 - tRNA methyltransferase complex GCD14 subunit

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

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2IPX - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P22087
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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 Gene Details  
Gene SorterGene Sorter Gene Sorter  
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0001094 TFIID-class transcription factor binding
GO:0003723 RNA binding
GO:0005515 protein binding
GO:0008168 methyltransferase activity
GO:0008649 rRNA methyltransferase activity
GO:0016740 transferase activity
GO:0051117 ATPase binding
GO:1990259 histone-glutamine methyltransferase activity

Biological Process:
GO:0000494 box C/D snoRNA 3'-end processing
GO:0001649 osteoblast differentiation
GO:0006364 rRNA processing
GO:0016074 snoRNA metabolic process
GO:0031167 rRNA methylation
GO:0032259 methylation
GO:0048254 snoRNA localization
GO:1990258 histone glutamine methylation

Cellular Component:
GO:0001650 fibrillar center
GO:0001651 dense fibrillar component
GO:0001652 granular component
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005694 chromosome
GO:0005730 nucleolus
GO:0015030 Cajal body
GO:0016020 membrane
GO:0031428 box C/D snoRNP complex
GO:0032040 small-subunit processome
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  BC019609 - Homo sapiens, clone IMAGE:4538098, mRNA, partial cds.
BC015218 - Homo sapiens fibrillarin, mRNA (cDNA clone IMAGE:3856436), partial cds.
M59849 - Human fibrillarin (Hfib1) mRNA, complete cds.
M30448 - Human casein kinase II beta subunit mRNA, complete cds.
BC019260 - Homo sapiens fibrillarin, mRNA (cDNA clone MGC:2347 IMAGE:3504198), complete cds.
AK296950 - Homo sapiens cDNA FLJ56738 complete cds, highly similar to Fibrillarin.
X56597 - Human humFib mRNA for fibrillarin.
KJ891122 - Synthetic construct Homo sapiens clone ccsbBroadEn_00516 FBL gene, encodes complete protein.
BT006830 - Homo sapiens fibrillarin mRNA, complete cds.
BT020144 - Homo sapiens fibrillarin mRNA, complete cds.
DQ892314 - Synthetic construct clone IMAGE:100004944; FLH185178.01X; RZPDo839G02146D fibrillarin (FBL) gene, encodes complete protein.
DQ895517 - Synthetic construct Homo sapiens clone IMAGE:100009977; FLH185174.01L; RZPDo839G02145D fibrillarin (FBL) gene, encodes complete protein.
AB451384 - Homo sapiens FBL mRNA for fibrillarin, partial cds, clone: FLJ08072AAAF.
AB463635 - Synthetic construct DNA, clone: pF1KB8263, Homo sapiens FBL gene for fibrillarin, without stop codon, in Flexi system.
CR457069 - Homo sapiens full open reading frame cDNA clone RZPDo834F0511D for gene FBL, fibrillarin; complete cds, incl. stopcodon.
AK308649 - Homo sapiens cDNA, FLJ98690.
JD443458 - Sequence 424482 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_SARSpathway - SARS Coronavirus Protease

Reactome (by CSHL, EBI, and GO)

Protein P22087 (Reactome details) participates in the following event(s):

R-HSA-6790907 Box C/D snoRNP methylates ribonucleotides in pre-rRNA yielding 2'-O-methylribonucleotides
R-HSA-6790906 EMG1 of the SSU processome methylates pseudouridine-1248 of 18S rRNA yielding N(1)-methylpseudouridine-1248
R-HSA-6790901 rRNA modification in the nucleus and cytosol
R-HSA-8868773 rRNA processing in the nucleus and cytosol
R-HSA-6791226 Major pathway of rRNA processing in the nucleolus and cytosol
R-HSA-72312 rRNA processing
R-HSA-8953854 Metabolism of RNA

-  Other Names for This Gene
  Alternate Gene Symbols: B5BUE8, ENST00000221801.1, ENST00000221801.2, ENST00000221801.3, ENST00000221801.4, ENST00000221801.5, ENST00000221801.6, ENST00000221801.7, FBL , FBRL_HUMAN, FIB1, FLRN, NM_001436, O75259, P22087, Q6IAT5, Q9UPI6, uc317dcj.1, uc317dcj.2
UCSC ID: ENST00000221801.8_8
RefSeq Accession: NM_001436.4
Protein: P22087 (aka FBRL_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.