THUMPD1 Gene
THUMP Domain Containing 1
Gene Information Card
| Symbol | THUMPD1 |
|---|---|
| Full Name | THUMP domain containing 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 16p12.3 |
| NCBI Gene ID | 55623 ncbi.nlm.nih.gov/gene/55623 |
| Ensembl ID | ENSG00000140987 |
| UniProt ID | Q9NXG2 |
| OMIM ID | 616982 |
| HGNC ID | 25607 |
| Aliases | FLJ11273, MGC13170 |
Description
THUMPD1 encodes a protein containing a THUMP domain, which is involved in RNA modification and metabolism. The protein is predicted to function as a methyltransferase, potentially modifying tRNA or other RNA substrates. It is ubiquitously expressed with higher levels in testis and certain brain regions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Intellectual disability | Disruption of THUMPD1 leads to impaired RNA modification affecting neuronal development | Case reports and functional studies (OMIM #616982) |
| Autosomal recessive non-syndromic intellectual disability | Homozygous loss-of-function mutations in THUMPD1 cause cognitive impairment | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Cerebellum | 10.2 | Medium |
| Cerebral cortex | 8.1 | Medium |
| Heart | 6.3 | Low |
| Liver | 4.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.3 | Moderate expression |
| HeLa | 12.1 | Moderate expression |
| K562 | 9.8 | Low expression |
| HepG2 | 7.5 | Low expression |
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.502C>T (p.Arg168*) | nonsense | Rare | Premature stop, loss of function |
| c.845G>A (p.Arg282Gln) | missense | Rare | Unknown significance |
Mutation functional classification
Loss of Function (LOF)
Nonsense and start-loss mutations lead to truncated or absent protein, associated with intellectual disability.
Gain of Function (GOF)
No evidence of gain-of-function mutations reported.
Dominant Negative (DN)
No evidence of dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • RNA binding (GO:0003723) | • methyltransferase activity (GO:0008168) |
| • cytoplasm (GO:0005737) | • nucleus (GO:0005634) |
| • RNA methylation (GO:0001510) |
Pathways
• tRNA modification in the nucleus and cytoplasm
Protein Summary
THUMPD1 is a 369-amino acid protein containing a THUMP domain and a predicted methyltransferase domain. It localizes to both the nucleus and cytoplasm and is involved in RNA methylation, likely targeting tRNAs. Loss of function leads to intellectual disability, highlighting its role in neuronal RNA metabolism.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| THUMPD1 Knockout HEK293 Cell Line | EDJ-KQ12049 | Human | 55623 | Details Get a Quote |
| THUMPD1 Knockout HeLa Cell Line | EDJ-KQ39426 | Human | 55623 | Details Get a Quote |
| THUMPD1 Knockout A-549 Cell Line | EDJ-KQ40686 | Human | 55623 | Details Get a Quote |
| THUMPD1 Knockout HCT 116 Cell Line | EDJ-KQ40687 | Human | 55623 | Details Get a Quote |
