LEO1
LEO1 Homolog, Paf1/RNA Polymerase II Complex Component
Gene Information Card
| Symbol | LEO1 |
|---|---|
| Full Name | LEO1 Homolog, Paf1/RNA Polymerase II Complex Component |
| Gene Type | Protein-coding |
| Chromosomal Location | 15q21.1 |
| NCBI Gene ID | 123169 ncbi.nlm.nih.gov/gene/123169 |
| Ensembl ID | ENSG00000137807 |
| UniProt ID | Q8WVC0 |
| OMIM ID | 610507 |
| HGNC ID | 29516 |
| Aliases | LEO1, FLJ10305, Paf1 complex component LEO1 |
Description
LEO1 encodes a component of the Paf1 complex, which associates with RNA polymerase II and is involved in transcription elongation, chromatin modification, and mRNA processing. The protein is conserved across eukaryotes and plays a role in cell cycle regulation and development.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (pan-cancer) | LEO1 overexpression or mutation may alter Paf1 complex function, affecting transcription of oncogenes or tumor suppressors. | COSMIC; multiple studies show somatic mutations and copy number alterations in various cancers. |
| Neurodevelopmental disorders | Disruption of Paf1 complex components can impair neuronal gene expression; LEO1 variants have been reported in patients with intellectual disability. | ClinVar; limited evidence from case reports. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Bone marrow | 8.2 | Low |
| Brain | 6.1 | Low |
| Heart | 5.3 | Low |
| Liver | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 | 10.1 | Leukemia cell line |
| HeLa | 9.3 | Cervical cancer cell line |
| HepG2 | 7.8 | Hepatocellular carcinoma cell line |
| A549 | 6.5 | Lung cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1015C>T (p.Arg339Trp) | Missense | <0.1% | Unknown; reported in COSMIC |
| c.1234G>A (p.Glu412Lys) | Missense | <0.1% | Unknown; reported in COSMIC |
| c.1456_1457del (p.Leu486fs) | Frameshift | <0.1% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations likely lead to truncated protein and loss of Paf1 complex function.
Gain of Function (GOF)
No clear gain-of-function mutations reported.
Dominant Negative (DN)
Not established; potential dominant-negative effects of missense variants are speculative.
View complete mutation data：
Gene Ontology (GO)
| • transcription (GO:0006351) | • regulation of transcription (GO:0006355) |
| • Paf1 complex (GO:0016593) | • nucleus (GO:0005634) |
| • transcription elongation from RNA polymerase II promoter (GO:0006368) |
Pathways
• Paf1 complex pathway (Reactome: R-HSA-5250924)
• RNA polymerase II transcription elongation (Reactome: R-HSA-75955)
Protein Summary
LEO1 is a 666-amino-acid protein that localizes to the nucleus and is a core component of the Paf1 complex. It interacts with other complex members (e.g., PAF1, CTR9, CDC73) and RNA polymerase II to facilitate transcription elongation and histone modification. The protein contains no known enzymatic domains but is essential for complex stability.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LEO1 Knockout HEK293 Cell Line | EDJ-KQ51953 | Human | 123169 | Details Get a Quote |
| LEO1 Knockout HeLa Cell Line | EDJ-KQ58115 | Human | 123169 | Details Get a Quote |
| LEO1 Knockout A-549 Cell Line | EDJ-KQ66602 | Human | 123169 | Details Get a Quote |
| LEO1 Knockout HCT 116 Cell Line | EDJ-KQ75020 | Human | 123169 | Details Get a Quote |
