ABCF3: ATP Binding Cassette Subfamily F Member 3
A member of the ABC transporter family involved in translational regulation and cellular stress responses.
Gene Information Card
| Symbol | ABCF3 |
|---|---|
| Full Name | ATP Binding Cassette Subfamily F Member 3 |
| Gene Type | Protein-coding |
| Chromosomal Location | 3q27.1 |
| NCBI Gene ID | 91574 ncbi.nlm.nih.gov/gene/91574 |
| Ensembl ID | ENSG00000163947 |
| UniProt ID | Q9NUQ8 |
| OMIM ID | 618496 |
| HGNC ID | 14689 |
| Aliases | ABC50, EST201864 |
Description
ABCF3 encodes a member of the ATP-binding cassette (ABC) transporter family, subfamily F. Unlike classical ABC transporters, ABCF3 lacks transmembrane domains and is involved in translational regulation by interacting with ribosomes and eukaryotic initiation factors. It plays a role in cellular stress responses and may influence protein synthesis under various conditions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | ABCF3 overexpression may promote translation of oncogenic mRNAs; altered expression observed in multiple tumor types. | COSMIC; NCBI Gene |
| Neurodevelopmental disorders | Rare variants in ABCF3 have been reported in patients with intellectual disability; functional studies suggest impaired ribosomal function. | ClinVar; OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Medium |
| Brain | 8.7 | Low |
| Liver | 6.5 | Low |
| Heart | 5.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.1 | Moderate expression |
| HeLa | 8.9 | Moderate expression |
| K562 | 7.4 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1045C>T (p.Arg349Trp) | Missense | <0.01% | Unknown; predicted damaging by SIFT |
| c.1567G>A (p.Glu523Lys) | Missense | <0.01% | Unknown; predicted benign |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in major databases.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • ATP binding | • ribosome binding |
| • translation initiation factor activity | • cellular response to stress |
| • cytoplasm |
Pathways
• Translation initiation (Reactome: R-HSA-72649)
• ABC transporter family (KEGG: hsa02010)
Protein Summary
ABCF3 is a 709-amino acid protein localized to the cytoplasm. It contains two ATP-binding cassette domains but no transmembrane segments. It interacts with eukaryotic initiation factor 2 (eIF2) and ribosomes, modulating translation initiation. Under stress conditions, ABCF3 may help reprogram protein synthesis to support cell survival.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ABCF3 Knockout HEK293 Cell Line | EDJ-KQ8015 | Human | 55324 | Details Get a Quote |
| ABCF3 Knockout A-549 Cell Line | EDJ-KQ33775 | Human | 55324 | Details Get a Quote |
| ABCF3 Knockout HCT 116 Cell Line | EDJ-KQ33776 | Human | 55324 | Details Get a Quote |
| ABCF3 Knockout HeLa Cell Line | EDJ-KQ33777 | Human | 55324 | Details Get a Quote |
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