ABCF1: ATP Binding Cassette Subfamily F Member 1
A non-transport ABC protein involved in translational control and immune regulation
Gene Information Card
| Symbol | ABCF1 |
|---|---|
| Full Name | ATP Binding Cassette Subfamily F Member 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 6p21.33 |
| NCBI Gene ID | 23 ncbi.nlm.nih.gov/gene/23 |
| Ensembl ID | ENSG00000136231 |
| UniProt ID | Q8NE71 |
| OMIM ID | 603429 |
| HGNC ID | 70 |
| Aliases | ABC50, EST123147 |
Description
ABCF1 encodes a member of the ATP-binding cassette (ABC) transporter superfamily, but unlike most ABC proteins, it does not function as a transmembrane transporter. Instead, ABCF1 is a cytoplasmic protein that binds ATP and is involved in translation initiation and ribosome biogenesis. It interacts with eukaryotic initiation factor 2 (eIF2) and may regulate protein synthesis under stress conditions. The gene is located in the major histocompatibility complex (MHC) class III region on chromosome 6, suggesting a role in immune system modulation. ABCF1 has been implicated in inflammatory and autoimmune diseases, as well as in cancer progression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Rheumatoid arthritis | ABCF1 polymorphisms are associated with altered immune response and increased disease susceptibility. | OMIM 603429; GWAS studies |
| Systemic lupus erythematosus | Variants in the MHC region including ABCF1 contribute to lupus risk through immune dysregulation. | OMIM 603429; NCBI Gene |
| Cancer (multiple types) | ABCF1 overexpression promotes translation of oncogenic proteins and correlates with poor prognosis in breast, lung, and colorectal cancers. | COSMIC; PubMed studies |
| Inflammatory bowel disease | ABCF1 expression changes in intestinal epithelium may modulate inflammatory cytokine production. | NCBI Gene; ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 15.2 | Medium |
| Spleen | 12.8 | Medium |
| Bone marrow | 10.5 | Medium |
| Lung | 8.3 | Low |
| Colon | 7.1 | Low |
| Breast | 6.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 18.5 | Embryonic kidney cells; high baseline expression |
| HeLa | 14.2 | Cervical carcinoma; moderate expression |
| K562 | 12.0 | Leukemia cell line; moderate expression |
| MCF7 | 9.8 | Breast cancer; lower expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1015C>T (p.Arg339Trp) | Missense | <0.01% | Unknown functional effect; reported in ClinVar |
| c.1543G>A (p.Gly515Arg) | Missense | <0.01% | May affect ATP binding; limited evidence |
| c.2026_2027insA (p.Thr676Asnfs*2) | Frameshift | <0.01% | Predicted loss of function; rare |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations in ABCF1 are predicted to cause loss of function, potentially impairing translation initiation and cellular stress responses.
Gain of Function (GOF)
No confirmed gain-of-function mutations have been reported for ABCF1.
Dominant Negative (DN)
No dominant-negative mutations have been described for ABCF1.
View complete mutation data：
Gene Ontology (GO)
| • ATP binding (GO:0005524) | • Translation initiation factor activity (GO:0003743) |
| • Ribosome binding (GO:0043022) | • Cytoplasm (GO:0005737) |
| • Regulation of translational initiation (GO:0006446) | • Innate immune response (GO:0045087) |
Pathways
• Eukaryotic translation initiation (Reactome R-HSA-72649)
• Ribosome biogenesis (Reactome R-HSA-72689)
• Interferon gamma signaling (Reactome R-HSA-877300)
Protein Summary
ABCF1 (ABC50) is a 845-amino acid protein with two nucleotide-binding domains (NBDs) typical of ABC proteins but lacks transmembrane domains. It localizes to the cytoplasm and associates with ribosomes. ABCF1 binds ATP and interacts with eIF2, facilitating the formation of the 43S preinitiation complex. It is upregulated in response to interferon-gamma and other immune stimuli, linking translational control to immune function. Structural studies show that ATP binding induces conformational changes that modulate its interaction with the ribosome. Dysregulation of ABCF1 contributes to autoimmune diseases and cancer by altering the translation of key regulatory proteins.
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