Aliases for FAM111A Gene
External Ids for FAM111A Gene
Previous GeneCards Identifiers for FAM111A Gene
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]
GeneCards Summary for FAM111A Gene
FAM111A (Family With Sequence Similarity 111 Member A) is a Protein Coding gene. Diseases associated with FAM111A include gracile bone dysplasia and kenny-caffey syndrome, type 2. GO annotations related to this gene include serine-type endopeptidase activity. An important paralog of this gene is FAM111B.
UniProtKB/Swiss-Prot for FAM111A Gene
Chromatin-associated protein required for PCNA loading on replication sites. Promotes S-phase entry and DNA synthesis (PubMed:24561620). May directly function at replication forks, explaining why Simian virus 40 (SV40) interacts with FAM111A to overcome host range restriction (PubMed:23093934).