ISY1-RAB43 readthrough
A readthrough transcript encoding a fusion protein of ISY1 and RAB43, with potential roles in splicing and vesicular trafficking.
Gene Information Card
| Symbol | ISY1-RAB43 |
|---|---|
| Full Name | ISY1-RAB43 readthrough |
| Gene Type | Readthrough (fusion transcript) |
| Chromosomal Location | 3q21.3 |
| NCBI Gene ID | 100526737 ncbi.nlm.nih.gov/gene/100526737 |
| Ensembl ID | ENSG00000255374 |
| UniProt ID | Not available (readthrough transcript) |
| OMIM ID | Not available |
| HGNC ID | HGNC:44233 |
| Aliases | ISY1-RAB43 fusion, RAB43-ISY1 |
Description
ISY1-RAB43 is a readthrough transcript resulting from the natural fusion of the ISY1 and RAB43 genes on chromosome 3q21.3. This transcript encodes a protein that combines domains from ISY1, involved in pre-mRNA splicing, and RAB43, a small GTPase involved in vesicular trafficking. The biological significance of this readthrough is not fully characterized, but it may represent a regulatory mechanism or produce a functional chimeric protein.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Not established | No direct disease association reported | No evidence in ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Not available | N/A | N/A |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Not available | N/A | N/A |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| Not reported | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
Not characterized
Gain of Function (GOF)
Not characterized
Dominant Negative (DN)
Not characterized
View complete mutation data：
Protein Summary
The predicted ISY1-RAB43 fusion protein is expected to contain the N-terminal region of ISY1 (including the splicing factor domain) and the C-terminal region of RAB43 (including the GTPase domain). Its functional significance in cellular processes such as splicing and membrane trafficking remains to be experimentally validated.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ISY1-RAB43 Knockout HEK293 Cell Line | EDJ-KQ52512 | Human | 100534599 | Details Get a Quote |
| ISY1-RAB43 Knockout HeLa Cell Line | EDJ-KQ60977 | Human | 100534599 | Details Get a Quote |
| ISY1-RAB43 Knockout A-549 Cell Line | EDJ-KQ69452 | Human | 100534599 | Details Get a Quote |
| ISY1-RAB43 Knockout HCT 116 Cell Line | EDJ-KQ77803 | Human | 100534599 | Details Get a Quote |
