The protein encoded by this gene is cell-cycle regulated, and has nuclear localization. The C-terminal half of the protein shares homology with trypsin-like peptidases and it contains a PCNA-interacting peptide (PIP) box, that is necessary for its co-localization with proliferating cell nuclear antigen (PCNA). Reduced expression of this gene resulted in DNA replication defects, consistent with the demonstrated role for this gene in Simian Virus 40 (SV40) viral replication. Mutations in this gene have been associated with Kenny-Caffey syndrome (KCS) type 2 and the more severe osteocraniostenosis (OCS, also known as Gracile Bone Dysplasia), both characterized by short stature, hypoparathyroidism, bone development abnormalities, and hypocalcemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]
Transcription factors with Perturb-seq knockdown data for FAM111A. The Binding column indicates whether any binding evidence exists for this TF–gene pair (ChIP-seq or motif footprint peaks). The Mean coef is the average Perturb-seq regression coefficient across active gRNAs (positive = FAM111A upregulated upon KD; negative = downregulated). The Outlier column indicates whether this gene is in the top or bottom 5% of all TF knockdown effects.
| TF | Mean coef | Binding | Outlier | TF→Gene link |
|---|
Open chromatin peaks (ATAC-seq) in the genomic neighbourhood of FAM111A, linked by TSS proximity or chromatin conformation (Multiome / HiCAR). Each element overlaps at least one TF ChIP-seq binding site — the TFs column shows how many distinct TFs bind that element.
| Accessibility | Element | Dist. to TSS | Link type | TFs |
|---|---|---|---|---|
| chr11:58,900,167–58,901,350 | 241.8 kb | Distal (>10kb) Multiome | 303 | |
| chr11:58,905,068–58,906,400 | 236.9 kb | Distal (>10kb) Multiome | 397 | |
| chr11:58,926,958–58,929,011 | 215.2 kb | Distal (>10kb) Multiome | 272 | |
| chr11:58,963,030–58,964,168 | 179.0 kb | Distal (>10kb) Multiome | 243 | |
| chr11:59,058,072–59,058,928 | 84.2 kb | Distal (>10kb) Multiome | 236 | |
| chr11:59,101,879–59,102,715 | 40.4 kb | Distal (>10kb) Multiome | 199 | |
| chr11:59,106,296–59,108,091 | 35.8 kb | Distal (>10kb) Multiome | 495 | |
| chr11:59,135,767–59,136,804 | 5.9 kb | Proximal (<10kb) | 474 | |
| chr11:59,142,370–59,143,459 | 194 bp | At TSS Multiome | 736 | |
| chr11:59,144,606–59,145,343 | 2.2 kb | Proximal (<10kb) Multiome | 528 | |
| chr11:59,171,483–59,174,527 | 29.2 kb | Distal (>10kb) Multiome | 865 |
Genomic view of the FAM111A locus showing ATAC-seq accessibility and RNA-seq expression across the ESC → DE time course, together with TF binding peaks and element-to-TSS loop connections.