ANKHD1-EIF4EBP3 readthrough transcript
A readthrough gene encoding a fusion protein of ANKHD1 and EIF4EBP3, involved in cell proliferation and translation regulation.
Gene Information Card
| Symbol | ANKHD1-EIF4EBP3 |
|---|---|
| Full Name | ANKHD1-EIF4EBP3 readthrough |
| Gene Type | readthrough transcript (protein-coding) |
| Chromosomal Location | 5q31.3 |
| NCBI Gene ID | 100526737 ncbi.nlm.nih.gov/gene/100526737 |
| Ensembl ID | ENSG00000269313 |
| UniProt ID | Q8IWW6 |
| OMIM ID | 615057 |
| HGNC ID | 44062 |
| Aliases | ANKHD1-EIF4EBP3 fusion, ANKHD1-EIF4EBP3 readthrough |
Description
ANKHD1-EIF4EBP3 is a readthrough transcript that fuses the 5' part of ANKHD1 (ankyrin repeat and KH domain containing 1) with the 3' part of EIF4EBP3 (eukaryotic translation initiation factor 4E binding protein 3). The resulting protein contains ankyrin repeats from ANKHD1 and the eIF4E-binding domain from EIF4EBP3, potentially modulating translation initiation and cell growth. This readthrough locus is conserved in primates and may play a role in cancer biology.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | Fusion protein may alter eIF4E activity, promoting translation of oncogenic mRNAs | Inferred from homology; limited direct evidence |
| Breast cancer | Overexpression of ANKHD1-EIF4EBP3 transcript observed in some breast cancer cell lines | COSMIC; RNA-seq data |
| Colorectal cancer | Readthrough transcript detected in tumor samples | COSMIC; TCGA data |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 3.2 | Low |
| Lymph node | 2.1 | Low |
| Bone marrow | 1.8 | Low |
| Brain | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 4.5 | Moderate expression |
| MCF7 | 3.8 | Detected |
| HCT116 | 2.9 | Detected |
| K562 | 1.2 | Low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | missense | <0.01% | Unknown |
| c.245C>T | missense | <0.01% | Unknown |
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)
| • translation regulator activity | • protein binding |
| • cytoplasm |
Pathways
• mTOR signaling pathway
• eIF4E-mediated translation initiation
Protein Summary
The ANKHD1-EIF4EBP3 readthrough protein (UniProt Q8IWW6) is a 1,200-amino acid fusion containing N-terminal ankyrin repeats (from ANKHD1) and a C-terminal eIF4E-binding motif (from EIF4EBP3). It is predicted to localize to the cytoplasm and may sequester eIF4E, thereby regulating cap-dependent translation. Expression is low in most normal tissues but elevated in some cancer cell lines.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ANKHD1-EIF4EBP3 Knockout HEK293 Cell Line | EDJ-KQ52331 | Human | 404734 | Details Get a Quote |
| ANKHD1-EIF4EBP3 Knockout HeLa Cell Line | EDJ-KQ60347 | Human | 404734 | Details Get a Quote |
| ANKHD1-EIF4EBP3 Knockout A-549 Cell Line | EDJ-KQ68814 | Human | 404734 | Details Get a Quote |
| ANKHD1-EIF4EBP3 Knockout HCT 116 Cell Line | EDJ-KQ77178 | Human | 404734 | Details Get a Quote |
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