RPEL1 Gene - RPEL1 Actin Binding Protein
Comprehensive genomic and proteomic analysis of RPEL1, a member of the RPEL family involved in actin binding and cellular signaling.
Gene Information Card
| Symbol | RPEL1 |
|---|---|
| Full Name | RPEL1 actin binding protein |
| Gene Type | protein-coding |
| Chromosomal Location | 18q12.1 |
| NCBI Gene ID | 100131731 ncbi.nlm.nih.gov/gene/100131731 |
| Ensembl ID | ENSG00000267508 |
| UniProt ID | Q6ZUT3 |
| OMIM ID | 618702 |
| HGNC ID | 37228 |
| Aliases | MGC16384, RPEL1 |
Description
RPEL1 encodes a protein containing an RPEL motif, which is involved in actin binding and regulation of actin dynamics. The protein is implicated in cellular processes such as cytoskeletal organization and signal transduction.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported | Not established | No evidence from ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 5.2 | Low |
| Spleen | 3.1 | Low |
| Lung | 2.8 | Low |
| Brain | 1.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 2.0 | Low expression |
| HeLa | 1.8 | Low expression |
| K562 | 1.2 | 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)
| • actin binding | • cytoskeleton |
| • signal transduction |
Pathways
• Actin cytoskeleton regulation
Protein Summary
RPEL1 is a 200-amino acid protein with a molecular weight of approximately 22 kDa. It contains an RPEL motif that mediates interaction with actin, suggesting a role in actin dynamics and cellular signaling.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RPEL1 Knockout HEK293 Cell Line | EDJ-KQ15120 | Human | 729020 | Details Get a Quote |
| RPEL1 Knockout HeLa Cell Line | EDJ-KQ60729 | Human | 729020 | Details Get a Quote |
| RPEL1 Knockout A-549 Cell Line | EDJ-KQ69199 | Human | 729020 | Details Get a Quote |
| RPEL1 Knockout HCT 116 Cell Line | EDJ-KQ77556 | Human | 729020 | Details Get a Quote |
