FRA10AC1: Fragile Site, Folic Acid Type, Rare, Fra(10)(q23.3) Associated Protein 1
A gene encoding a protein involved in chromosome stability and linked to fragile site FRA10A.
Gene Information Card
| Symbol | FRA10AC1 |
|---|---|
| Full Name | FRA10A associated CGG repeat 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 10q23.3 |
| NCBI Gene ID | 118924 ncbi.nlm.nih.gov/gene/118924 |
| Ensembl ID | ENSG00000148773 |
| UniProt ID | Q9HKI9 |
| OMIM ID | 608866 |
| HGNC ID | 25411 |
| Aliases | FRA10A, C10orf4, FRA10AC1 |
Description
FRA10AC1 is a protein-coding gene located on chromosome 10q23.3. It encodes a protein of unknown function but is associated with the fragile site FRA10A, which is induced by folic acid deficiency. The gene contains a CGG repeat in its 5' untranslated region that can expand and cause fragility. Expression is observed in various tissues, and alterations may contribute to genomic instability.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| FRA10A fragile site associated with intellectual disability | Expansion of CGG repeat in FRA10AC1 leads to chromosome fragility and possible gene silencing | OMIM #608866; ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 5.2 | Low |
| Testis | 8.1 | Medium |
| Lung | 3.4 | Low |
| Liver | 2.1 | Low |
| Heart | 4.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 6.5 | Moderate expression |
| HeLa | 4.8 | Low expression |
| K562 | 3.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| CGG repeat expansion (premutation) | Repeat expansion | <0.1% | Chromosome fragility, possible reduced expression |
| CGG repeat expansion (full mutation) | Repeat expansion | <0.01% | FRA10A expression, intellectual disability |
Mutation functional classification
Loss of Function (LOF)
Expanded CGG repeats may reduce FRA10AC1 mRNA and protein levels.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • nucleus (GO:0005634) |
| • cytoplasm (GO:0005737) |
Protein Summary
The FRA10AC1 protein (UniProt Q9HKI9) is 131 amino acids long with a molecular weight of approximately 14.5 kDa. It contains a nuclear localization signal and is predicted to localize to the nucleus and cytoplasm. Its exact function is unknown, but it may play a role in chromatin structure or gene regulation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FRA10AC1 Knockout HEK293 Cell Line | EDJ-KQ7634 | Human | 118924 | Details Get a Quote |
| FRA10AC1 Knockout HCT 116 Cell Line | EDJ-KQ32986 | Human | 118924 | Details Get a Quote |
| FRA10AC1 Knockout HeLa Cell Line | EDJ-KQ32987 | Human | 118924 | Details Get a Quote |
| FRA10AC1 Knockout A-549 Cell Line | EDJ-KQ31646 | Human | 118924 | Details Get a Quote |
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