R3HCC1L Gene
R3H Domain and Coiled-Coil 1 Like
Gene Information Card
| Symbol | R3HCC1L |
|---|---|
| Full Name | R3H Domain and Coiled-Coil 1 Like |
| Gene Type | Protein coding |
| Chromosomal Location | 1q42.13 |
| NCBI Gene ID | 100129924 ncbi.nlm.nih.gov/gene/100129924 |
| Ensembl ID | ENSG00000204149 |
| UniProt ID | Q6ZR08 |
| OMIM ID | 620668 |
| HGNC ID | 37253 |
| Aliases | MGC16384, C1orf156, R3HCC1L |
Description
R3HCC1L (R3H Domain and Coiled-Coil 1 Like) is a protein-coding gene located on chromosome 1q42.13. The encoded protein contains an R3H domain, which is a conserved motif involved in nucleic acid binding, and a coiled-coil region. Its precise biological function is not fully characterized, but it may play a role in RNA processing or cellular signaling.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported | Not established | No evidence in ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 8.2 | Medium |
| Brain | 4.1 | Low |
| Lung | 3.5 | Low |
| Liver | 2.8 | Low |
| Kidney | 3.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 6.5 | Moderate expression |
| HeLa | 4.8 | Low expression |
| K562 | 3.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.123C>T (p.Arg41Trp) | Missense | <0.01% | Unknown functional effect |
| c.456G>A (p.Val152Met) | Missense | <0.01% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
No loss-of-function variants reported in ClinVar or COSMIC.
Gain of Function (GOF)
No gain-of-function variants reported.
Dominant Negative (DN)
No dominant-negative variants reported.
View complete mutation data：
Gene Ontology (GO)
| • nucleic acid binding (GO:0003676) | • protein binding (GO:0005515) |
| • nucleus (GO:0005634) |
Protein Summary
The R3HCC1L protein (UniProt Q6ZR08) is 364 amino acids long and contains an N-terminal R3H domain (residues 1-80) and a coiled-coil region (residues 200-250). The R3H domain is predicted to bind single-stranded nucleic acids. The protein is localized to the nucleus and may be involved in RNA metabolism or transcriptional regulation. Its function remains largely uncharacterized.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| R3HCC1L Knockout HEK293 Cell Line | EDJ-KQ8747 | Human | 27291 | Details Get a Quote |
| R3HCC1L Knockout HCT 116 Cell Line | EDJ-KQ34993 | Human | 27291 | Details Get a Quote |
| R3HCC1L Knockout HeLa Cell Line | EDJ-KQ34994 | Human | 27291 | Details Get a Quote |
| R3HCC1L Knockout A-549 Cell Line | EDJ-KQ33733 | Human | 27291 | Details Get a Quote |
