RELCH (RAB11 Binding and LisH Domain, Coiled-Coil, and HEAT Repeat Containing)
A gene encoding a protein involved in endocytic recycling and cytoskeletal organization.
Gene Information Card
| Symbol | RELCH |
|---|---|
| Full Name | RAB11 binding and LisH domain, coiled-coil, and HEAT repeat containing |
| Gene Type | protein-coding |
| Chromosomal Location | 1p36.13 |
| NCBI Gene ID | 7157 ncbi.nlm.nih.gov/gene/7157 |
| Ensembl ID | ENSG00000117525 |
| UniProt ID | Q9Y6Y0 |
| OMIM ID | 608919 |
| HGNC ID | 25033 |
| Aliases | C1orf86, FLJ10305, KIAA1468 |
Description
RELCH encodes a protein that contains a LisH domain, coiled-coil regions, and HEAT repeats. It interacts with RAB11, a small GTPase involved in endocytic recycling, and is implicated in regulating vesicle trafficking and cytoskeletal dynamics. The gene is located on chromosome 1p36.13.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported | Not applicable | No evidence in ClinVar or OMIM as of current data |
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 | 6.0 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No pathogenic variants reported | 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) | • cytoplasm (GO:0005737) |
| • vesicle-mediated transport (GO:0016192) | • cell projection organization (GO:0030030) |
Pathways
• Endocytic recycling (RAB11 pathway)
Protein Summary
The RELCH protein (UniProt Q9Y6Y0) is a 1,048-amino acid protein containing a LisH domain, coiled-coil regions, and HEAT repeats. It binds RAB11 and is involved in endocytic recycling and cytoskeletal organization. Its precise cellular functions are still under investigation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RELCH Knockout HEK293 Cell Line | EDJ-KQ15030 | Human | 57614 | Details Get a Quote |
| RELCH Knockout A-549 Cell Line | EDJ-KQ44308 | Human | 57614 | Details Get a Quote |
| RELCH Knockout HCT 116 Cell Line | EDJ-KQ45564 | Human | 57614 | Details Get a Quote |
| RELCH Knockout HeLa Cell Line | EDJ-KQ45565 | Human | 57614 | Details Get a Quote |
