YTHDF1
YTH N6-methyladenosine RNA binding protein 1
Gene Information Card
| Symbol | YTHDF1 |
|---|---|
| Full Name | YTH N6-methyladenosine RNA binding protein 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 20q13.33 |
| NCBI Gene ID | 54915 ncbi.nlm.nih.gov/gene/54915 |
| Ensembl ID | ENSG00000101445 |
| UniProt ID | Q9BYJ9 |
| OMIM ID | 616522 |
| HGNC ID | 18538 |
| Aliases | C20orf21, DF1, YTH domain family member 1 |
Description
YTHDF1 is a member of the YTH domain family of proteins that specifically recognize and bind N6-methyladenosine (m6A)-modified RNA. It promotes translation of m6A-modified mRNAs by interacting with the translation initiation machinery, thereby regulating protein synthesis in response to RNA methylation. YTHDF1 is implicated in various cellular processes including stem cell differentiation, stress response, and tumorigenesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hepatocellular carcinoma | YTHDF1 overexpression enhances translation of m6A-modified oncogenic mRNAs, promoting cell proliferation and metastasis | PMID: 30449622 |
| Colorectal cancer | Increased YTHDF1 expression correlates with poor prognosis; promotes translation of m6A-modified transcripts involved in cell cycle and invasion | PMID: 31511696 |
| Acute myeloid leukemia | YTHDF1 upregulation supports leukemic cell survival by enhancing translation of m6A-modified transcripts of anti-apoptotic genes | PMID: 32814838 |
| Gastric cancer | YTHDF1 overexpression promotes tumor growth and metastasis via m6A-dependent translation of target mRNAs | PMID: 31959747 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | High |
| Bone marrow | 10.8 | Medium |
| Lymph node | 9.5 | Medium |
| Liver | 7.3 | Medium |
| Brain | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 12.4 | Embryonic kidney cell line |
| HeLa | 11.0 | Cervical carcinoma cell line |
| HepG2 | 9.8 | Hepatocellular carcinoma cell line |
| K562 | 8.5 | Chronic myeloid leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1124G>A (p.Arg375Gln) | Missense | <0.01% | Unknown functional impact; rare variant |
| c.157C>T (p.Arg53Cys) | Missense | <0.01% | Unknown functional impact; rare variant |
| c.1045A>G (p.Ile349Val) | Missense | <0.01% | Unknown functional impact; rare variant |
Mutation functional classification
Loss of Function (LOF)
No well-characterized loss-of-function mutations reported in YTHDF1.
Gain of Function (GOF)
No well-characterized gain-of-function mutations reported; overexpression is common in cancers.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • RNA binding (GO:0003723) | • N6-methyladenosine-containing RNA binding (GO:1990247) |
| • Translation regulator activity (GO:0045182) | • Cytoplasm (GO:0005737) |
| • P-body (GO:0000932) | • Regulation of translation (GO:0006417) |
| • Response to stress (GO:0006950) |
Pathways
• m6A-mediated translation regulation (Reactome: R-HSA-9759560)
• RNA methylation and translation control (KEGG: hsa03015)
Protein Summary
YTHDF1 is a 559-amino acid protein containing a conserved YTH domain that specifically recognizes N6-methyladenosine (m6A) modifications on mRNA. It localizes to the cytoplasm and processing bodies (P-bodies), where it promotes translation of m6A-tagged transcripts by recruiting eIF3 and other translation initiation factors. YTHDF1 plays a key role in cellular stress responses, stem cell differentiation, and cancer progression. Its overexpression is frequently observed in multiple cancer types and correlates with poor prognosis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| YTHDF1 Knockout HEK293 Cell Line | EDJ-KQ1110 | Human | 54915 | Details Get a Quote |
| YTHDF1 Knockout A-549 Cell Line | EDJ-KQ18944 | Human | 54915 | Details Get a Quote |
| YTHDF1 Knockout HCT 116 Cell Line | EDJ-KQ20294 | Human | 54915 | Details Get a Quote |
| YTHDF1 Knockout HeLa Cell Line | EDJ-KQ20295 | Human | 54915 | Details Get a Quote |
| Ythdf1 Knockout 4T1 Cell Line | EDJ-KZ83 | Mouse | 228994 | Details Get a Quote |
| Ythdf1 Knockout B16-F10 Cell Line | EDJ-KZ84 | Mouse | 54915 | Details Get a Quote |
| Ythdf1 Knockout MC-38 Cell Line | EDJ-KZ85 | Mouse | 54915 | Details Get a Quote |
