FBLL1: Fibrillarin-Like 1
A snoRNP component gene with limited functional characterization
Gene Information Card
| Symbol | FBLL1 |
|---|---|
| Full Name | Fibrillarin-Like 1 |
| Gene Type | Protein-coding |
| Chromosomal Location | 5q35.3 |
| NCBI Gene ID | 114049 ncbi.nlm.nih.gov/gene/114049 |
| Ensembl ID | ENSG00000164327 |
| UniProt ID | Q8N5X1 |
| OMIM ID | 617447 |
| HGNC ID | 28925 |
| Aliases | FBL1, FBL-L1, FLJ10305 |
Description
FBLL1 (Fibrillarin-Like 1) is a protein-coding gene located on chromosome 5q35.3. It encodes a protein with sequence similarity to fibrillarin, a component of the small nucleolar ribonucleoprotein (snoRNP) complex involved in rRNA processing and ribosome biogenesis. The precise biological function of FBLL1 remains incompletely understood, but it is predicted to participate in RNA methylation and nucleolar processes. Expression data suggest broad tissue distribution with highest levels in testis and certain cancer cell lines.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No confirmed disease associations | Not established | No curated evidence in ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Thyroid | 8.3 | Low |
| Prostate | 7.1 | Low |
| Lung | 5.9 | Low |
| Brain | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | Highest in available cell lines |
| HeLa | 10.8 | Moderate expression |
| K562 | 7.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Likely loss of start codon; no functional data |
| c.100C>T (p.Arg34Trp) | Missense | <0.01% | Rare variant; unknown significance |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function variants reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function variants reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • RNA binding | • methyltransferase activity |
| • nucleolus | • small nucleolar ribonucleoprotein complex |
| • rRNA processing |
Pathways
• Ribosome biogenesis (Reactome: R-HSA-6791226)
• rRNA modification in the nucleus and cytosol (Reactome: R-HSA-6790901)
Protein Summary
The FBLL1 protein (UniProt Q8N5X1) is a 299-amino acid polypeptide with a predicted molecular weight of ~33 kDa. It contains a fibrillarin-like domain and is localized to the nucleolus. Structural homology suggests involvement in 2'-O-methylation of rRNA, though direct enzymatic activity has not been experimentally confirmed. The protein is highly conserved in vertebrates.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FBLL1 Knockout HEK293 Cell Line | EDJ-KQ12689 | Human | 345630 | Details Get a Quote |
Displaying Records 1 To 1 Of 1 Records
