YTHDC1
YTH Domain Containing 1, an m6A Reader Protein
Gene Information Card
| Symbol | YTHDC1 |
|---|---|
| Full Name | YTH domain containing 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 4q13.2 |
| NCBI Gene ID | 91746 ncbi.nlm.nih.gov/gene/91746 |
| Ensembl ID | ENSG00000138668 |
| UniProt ID | Q96MU7 |
| OMIM ID | 617283 |
| HGNC ID | 28959 |
| Aliases | YTHDC1, KIAA1966, YT521-B, DC1 |
Description
YTHDC1 encodes a member of the YTH domain protein family that specifically recognizes and binds N6-methyladenosine (m6A)-modified RNA. It functions as a nuclear m6A reader, regulating RNA splicing, export, stability, and translation. YTHDC1 is involved in transcriptional regulation and chromatin modification, and its dysregulation is linked to various cancers and developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Acute myeloid leukemia | YTHDC1 overexpression promotes leukemogenesis via m6A-dependent RNA processing | COSMIC, ClinVar |
| Breast cancer | Altered YTHDC1 expression correlates with tumor progression and poor prognosis | NCBI Gene, COSMIC |
| Glioblastoma | YTHDC1 mutations affect RNA splicing and cell proliferation | COSMIC, ClinVar |
| Hepatocellular carcinoma | YTHDC1 upregulation enhances m6A-mediated oncogene expression | NCBI Gene, COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.3 | Medium |
| Lung | 6.1 | Low |
| Liver | 5.4 | Low |
| Kidney | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.2 | Embryonic kidney cells |
| HeLa | 9.1 | Cervical cancer cells |
| K562 | 7.8 | Leukemia cells |
| MCF7 | 6.5 | Breast cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1123G>A (p.Gly375Arg) | Missense | <0.1% | Altered m6A binding affinity |
| c.1456C>T (p.Arg486Trp) | Missense | <0.1% | Reduced nuclear localization |
| c.1789_1791del (p.Lys597del) | In-frame deletion | <0.1% | Impaired RNA splicing regulation |
Mutation functional classification
Loss of Function (LOF)
Missense mutations in the YTH domain reduce m6A binding and RNA processing.
Gain of Function (GOF)
Overexpression in cancers leads to enhanced oncogenic RNA metabolism.
Dominant Negative (DN)
Not reported for YTHDC1.
View complete mutation data：
Gene Ontology (GO)
| • GO:0003723 – RNA binding | • GO:0005634 – nucleus |
| • GO:0006397 – mRNA processing | • GO:0048025 – N6-methyladenosine-containing RNA binding |
| • GO:0008380 – RNA splicing |
Pathways
• m6A RNA methylation pathway
• RNA splicing via spliceosome
• mRNA surveillance pathway
Protein Summary
YTHDC1 is a 727-amino acid nuclear protein containing a conserved YTH domain that binds m6A-modified RNAs. It regulates alternative splicing, nuclear export, and stability of target transcripts. The protein interacts with splicing factors and chromatin modifiers, linking RNA methylation to gene expression control.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| YTHDC1 Knockout A-549 Cell Line | EDC07652 | Human | 91746 | Details Get a Quote |
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