Human Gene FRA10AC1 (ENST00000359204.5) from GENCODE V44
Description: Homo sapiens FRA10A associated CGG repeat 1 (FRA10AC1), transcript variant 6, non-coding RNA. (from RefSeq NR_144635) RefSeq Summary (NM_145246): The protein encoded by this gene is a nuclear phosphoprotein of unknown function. This gene contains a tandem CGG repeat region within a CpG island that normally consists of 8-14 repeats but can expand to over 200 repeats. The repeat region is within the 5' UTR of some transcript variants, but is intronic to another variant. The expanded repeat allele is a fragile site and becomes hypermethylated, causing a reduction in gene expression. A disease phenotype has not been associated with expanded alleles. This gene is found within the rare FRA10A folate-sensitive fragile site. [provided by RefSeq, Dec 2016]. Gencode Transcript: ENST00000359204.5 Gencode Gene: ENSG00000148690.12 Transcript (Including UTRs) Position: hg38 chr10:93,667,883-93,702,592 Size: 34,710 Total Exon Count: 14 Strand: - Coding Region Position: hg38 chr10:93,669,826-93,700,106 Size: 30,281 Coding Exon Count: 13
ID:F10C1_HUMAN DESCRIPTION: RecName: Full=Protein FRA10AC1; INTERACTION: Q12852:MAP3K12; NbExp=2; IntAct=EBI-710176, EBI-710223; SUBCELLULAR LOCATION: Nucleus. TISSUE SPECIFICITY: Ubiquitously expressed with higher expression in brain, heart, skeletal muscle, kidney and liver. MISCELLANEOUS: Expansion of a polymorphic CGG repeat within the 5'-UTR of this gene FRA10AC1 may be the cause of folate-sensitive fragile site FRA10A expression which is characterized by chromosomal breakage under specific cell culture conditions. No distinct phenotype has been associated with expression of FRA10A. Nevertheless, some studies have proposed that this fragile site expression might be associated with mental retardation, tumorigenesis, or neurological disorders. However, these associations can be attributed to ascertainment bias. SEQUENCE CAUTION: Sequence=AAK55529.1; Type=Miscellaneous discrepancy; Note=Chimeric cDNA;
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Pfam Domains: PF09725 - Folate-sensitive fragile site protein Fra10Ac1
ModBase Predicted Comparative 3D Structure on Q70Z53
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
