ELOF1
Elongation Factor 1 Homolog (S. cerevisiae)
Gene Information Card
| Symbol | ELOF1 |
|---|---|
| Full Name | Elongation Factor 1 Homolog (S. cerevisiae) |
| Gene Type | Protein-coding |
| Chromosomal Location | 19q13.2 |
| NCBI Gene ID | 7157 ncbi.nlm.nih.gov/gene/7157 |
| Ensembl ID | ENSG00000104879 |
| UniProt ID | Q9H6K5 |
| OMIM ID | 617442 |
| HGNC ID | 33717 |
| Aliases | C19orf42, ELF1, SPT6 |
Description
ELOF1 encodes a protein that functions as a transcription elongation factor, interacting with RNA polymerase II and chromatin to facilitate efficient transcription elongation. It is conserved from yeast to humans and plays a role in chromatin remodeling and gene expression regulation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported | N/A | No direct evidence from ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Brain | 8.5 | Low |
| Lung | 6.1 | Low |
| Liver | 4.3 | Low |
| Heart | 3.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 12.0 | Moderate expression |
| HEK293 | 10.5 | Moderate expression |
| K562 | 8.2 | Low expression |
| A549 | 7.0 | 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; effect unknown |
| c.100C>T (p.Arg34Trp) | Missense | <0.01% | Rare variant; no known disease association |
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)
| • transcription (GO:0006351) | • regulation of transcription (GO:0006355) |
| • nucleus (GO:0005634) | • protein binding (GO:0005515) |
| • translation elongation factor activity (GO:0003746) |
Pathways
• Transcription elongation by RNA polymerase II
• Chromatin remodeling
Protein Summary
ELOF1 is a 152-amino acid protein (UniProt Q9H6K5) that localizes to the nucleus and interacts with RNA polymerase II and chromatin. It is involved in transcription elongation and may influence chromatin structure. The protein is conserved across eukaryotes.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ELOF1 Knockout HEK293 Cell Line | EDJ-KQ3852 | Human | 84337 | Details Get a Quote |
| ELOF1 Knockout A-549 Cell Line | EDJ-KQ26037 | Human | 84337 | Details Get a Quote |
| ELOF1 Knockout HCT 116 Cell Line | EDJ-KQ26038 | Human | 84337 | Details Get a Quote |
| ELOF1 Knockout HeLa Cell Line | EDJ-KQ26039 | Human | 84337 | Details Get a Quote |
