RWDD1 Gene
RWD Domain Containing 1
Gene Information Card
| Symbol | RWDD1 |
|---|---|
| Full Name | RWD Domain Containing 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 6q14.1 |
| NCBI Gene ID | 51389 ncbi.nlm.nih.gov/gene/51389 |
| Ensembl ID | ENSG00000112297 |
| UniProt ID | Q9H446 |
| OMIM ID | 617883 |
| HGNC ID | 29147 |
| Aliases | MSTP032, MSTP032, dJ402H5.2 |
Description
The RWDD1 gene encodes a protein containing a RWD (RING finger, WD repeat, and DEAD-like helicase) domain. This domain is involved in protein-protein interactions and may play a role in cellular signaling and chromatin remodeling. The gene is located on chromosome 6q14.1 and is broadly expressed in various tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association | Not established | No evidence from ClinVar, OMIM, or COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 8.5 | Medium |
| Brain | 6.2 | Medium |
| Lung | 5.1 | Low |
| Liver | 4.8 | Low |
| Kidney | 4.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 7.0 | Moderate expression |
| HeLa | 6.5 | Moderate expression |
| K562 | 5.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No reported pathogenic variants | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
No data available
Gain of Function (GOF)
No data available
Dominant Negative (DN)
No data available
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • nucleus (GO:0005634) |
| • cytoplasm (GO:0005737) |
Pathways
• No curated pathways available
Protein Summary
The RWDD1 protein (UniProt Q9H446) is 244 amino acids long and contains a conserved RWD domain. It is predicted to localize to the nucleus and cytoplasm and may participate in protein complex assembly. Its exact biological function remains under investigation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RWDD1 Knockout HEK293 Cell Line | EDJ-KQ11081 | Human | 51389 | Details Get a Quote |
| RWDD1 Knockout A-549 Cell Line | EDJ-KQ39016 | Human | 51389 | Details Get a Quote |
| RWDD1 Knockout HeLa Cell Line | EDJ-KQ39017 | Human | 51389 | Details Get a Quote |
| RWDD1 Knockout HCT 116 Cell Line | EDJ-KQ37715 | Human | 51389 | Details Get a Quote |
