FCF1 rRNA-Processing Protein
Essential component of the U3 small nucleolar ribonucleoprotein (snoRNP) complex involved in 18S rRNA processing
Gene Information Card
| Symbol | FCF1 |
|---|---|
| Full Name | FCF1 rRNA-processing protein |
| Gene Type | Protein-coding |
| Chromosomal Location | 14q24.3 |
| NCBI Gene ID | 51023 ncbi.nlm.nih.gov/gene/51023 |
| Ensembl ID | ENSG00000100811 |
| UniProt ID | Q9Y324 |
| OMIM ID | 618365 |
| HGNC ID | 28966 |
| Aliases | BAP, CGI-35, FCF1, UTP24 |
Description
FCF1 (FCF1 rRNA-processing protein) encodes a component of the U3 small nucleolar ribonucleoprotein (snoRNP) complex essential for the early cleavage steps of pre-rRNA during 18S rRNA maturation. The protein localizes to the nucleolus and is required for ribosome biogenesis. FCF1 is conserved across eukaryotes and its dysfunction can impair cell growth and proliferation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported | Not applicable | No curated disease entries in OMIM, ClinVar, or COSMIC as of current data |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lymph node | 9.8 | Medium |
| Spleen | 8.2 | Medium |
| Bone marrow | 7.6 | Medium |
| Brain | 4.3 | Low |
| Liver | 3.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.2 | Embryonic kidney cells |
| HeLa | 9.5 | Cervical cancer cells |
| K562 | 8.8 | Leukemia cells |
| A549 | 7.4 | Lung cancer cells |
| HepG2 | 6.1 | Liver cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Potential loss of start codon; effect unknown |
| c.100C>T (p.Arg34Trp) | Missense | <0.01% | Rare variant; no functional data |
| c.250G>A (p.Gly84Ser) | Missense | <0.01% | Rare variant; no functional data |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • nucleolus (GO:0005730) | • rRNA processing (GO:0006364) |
| • maturation of SSU-rRNA (GO:0030490) | • nucleus (GO:0005634) |
| • protein binding (GO:0005515) |
Pathways
• R-HSA-6791226 (Major pathway of rRNA processing in the nucleolus and cytosol)
• R-HSA-72312 (rRNA processing)
• R-HSA-8868773 (rRNA processing in the nucleus and cytosol)
Protein Summary
FCF1 is a 218-amino-acid protein (UniProt Q9Y324) localized to the nucleolus. It is a component of the U3 snoRNP complex and participates in the endonucleolytic cleavage of pre-rRNA at site A1, a critical step for 18S rRNA production. The protein contains a conserved FCF1 domain and is essential for ribosome biogenesis and cell proliferation.
Related Services
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|---|---|---|---|---|
| No Data | ||||
