RUNDC1
RUN Domain Containing 1
Gene Information Card
| Symbol | RUNDC1 |
|---|---|
| Full Name | RUN domain containing 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 17q21.31 |
| NCBI Gene ID | 146713 ncbi.nlm.nih.gov/gene/146713 |
| Ensembl ID | ENSG00000187764 |
| UniProt ID | Q96C34 |
| OMIM ID | 617625 |
| HGNC ID | 28931 |
| Aliases | FLJ20291, MGC13170 |
Description
RUNDC1 (RUN domain containing 1) is a protein-coding gene located on chromosome 17q21.31. The encoded protein contains a RUN domain, which is involved in Ras-like GTPase signaling. RUNDC1 is expressed in various tissues and may play a role in cellular signaling and vesicle transport. Limited functional studies are available.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease associations | Not established | No evidence in OMIM or ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Low |
| Lung | 6.1 | Low |
| Liver | 4.3 | Low |
| Kidney | 5.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.0 | Moderate expression |
| HeLa | 7.5 | Low expression |
| K562 | 6.8 | 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
Gain of Function (GOF)
No data
Dominant Negative (DN)
No data
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • cytoplasm (GO:0005737) |
Pathways
• No curated pathways
Protein Summary
The RUNDC1 protein (UniProt Q96C34) contains a RUN domain (residues 1-130) and is predicted to be cytoplasmic. Its exact function is not well characterized, but it may participate in GTPase signaling.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RUNDC1 Knockout HEK293 Cell Line | EDJ-KQ10520 | Human | 146923 | Details Get a Quote |
| RUNDC1 Knockout A-549 Cell Line | EDJ-KQ37930 | Human | 146923 | Details Get a Quote |
| RUNDC1 Knockout HCT 116 Cell Line | EDJ-KQ37931 | Human | 146923 | Details Get a Quote |
| RUNDC1 Knockout HeLa Cell Line | EDJ-KQ37932 | Human | 146923 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
