RTRAF: RNA Transcription, Translation and Transport Factor
A multifunctional RNA-binding protein involved in transcription, translation, and RNA transport, with links to cancer and neurological disorders.
Gene Information Card
| Symbol | RTRAF |
|---|---|
| Full Name | RNA transcription, translation and transport factor |
| Gene Type | Protein coding |
| Chromosomal Location | 21q22.3 |
| NCBI Gene ID | 51637 ncbi.nlm.nih.gov/gene/51637 |
| Ensembl ID | ENSG00000160211 |
| UniProt ID | Q9Y224 |
| OMIM ID | 617862 |
| HGNC ID | HGNC:2619 |
| Aliases | C21orf77, CGI-99, LCRP369, hCG_1815491 |
Description
RTRAF (RNA transcription, translation and transport factor) is a protein-coding gene located on chromosome 21q22.3. It encodes a multifunctional RNA-binding protein involved in transcription, translation, and RNA transport. The protein is part of the tRNA splicing ligase complex and plays a role in RNA processing. RTRAF has been implicated in various cancers and neurological conditions. Its expression is enriched in the brain and testis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal cancer | Overexpression may promote cell proliferation and migration | COSMIC; PMID: 25691885 |
| Glioblastoma | Altered expression linked to tumor progression | COSMIC; PMID: 27149842 |
| Intellectual disability | Homozygous loss-of-function mutations associated with neurodevelopmental delay | OMIM #617862; PMID: 28492532 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 15.2 | Medium |
| Lung | 6.8 | Low |
| Liver | 4.3 | Low |
| Kidney | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 18.3 | High expression in embryonic kidney cells |
| HeLa | 14.7 | Moderate expression in cervical cancer cells |
| SH-SY5Y | 22.1 | High expression in neuroblastoma cells |
| HepG2 | 9.2 | Low expression in 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 | Rare | Loss of start codon, likely loss of function |
| c.325C>T (p.Arg109Trp) | Missense | 0.01% | Unknown functional effect |
| c.487_489del (p.Lys163del) | In-frame deletion | Rare | May affect RNA binding |
Mutation functional classification
Loss of Function (LOF)
Homozygous loss-of-function mutations (e.g., start codon loss) cause intellectual disability.
Gain of Function (GOF)
Not well documented; overexpression in cancer may suggest oncogenic gain-of-function.
Dominant Negative (DN)
No evidence currently available.
View complete mutation data：
Gene Ontology (GO)
| • RNA binding (GO:0003723) | • nucleus (GO:0005634) |
| • cytoplasm (GO:0005737) | • mRNA processing (GO:0006397) |
| • RNA splicing (GO:0008380) | • translation (GO:0006412) |
Pathways
• tRNA splicing ligase complex
• RNA transport
• mRNA surveillance pathway
Protein Summary
The RTRAF protein (UniProt Q9Y224) is a 299-amino acid RNA-binding protein that localizes to both the nucleus and cytoplasm. It is a component of the tRNA splicing ligase complex, where it participates in RNA processing and transport. The protein contains an RNA recognition motif (RRM) and is involved in transcription, translation, and RNA transport. Its expression is highest in brain and testis, and it has been implicated in cancer and neurodevelopmental disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RTRAF Knockout HEK293 Cell Line | EDJ-KQ11169 | Human | 51637 | Details Get a Quote |
| RTRAF Knockout A-549 Cell Line | EDJ-KQ39191 | Human | 51637 | Details Get a Quote |
| RTRAF Knockout HCT 116 Cell Line | EDJ-KQ39192 | Human | 51637 | Details Get a Quote |
| RTRAF Knockout HeLa Cell Line | EDJ-KQ39193 | Human | 51637 | Details Get a Quote |
