Tbio FAM111A Protein FAM111A

Protein Summary

Description

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). 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]

Uniprot Accession IDs

• Q96PZ2
• A8K5Y8
• Q5RKS9
• Q5XKM2
• Q68DK9
• Q6IPR7
• Q9H5Y1

Gene Name

• FAM111A

Ensembl ID

• ENST00000361723
• ENSP00000355264
• ENSG00000166801
• ENST00000420244
• ENSP00000406683
• ENST00000528737
• ENSP00000434435
• ENST00000531147
• ENSP00000431631
• ENST00000533703
• ENSP00000433154

Symbol

• KIAA1895
• KCS2
• GCLEB

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
transcription factor perturbation	0.8
transcription factor	0.72
tissue sample	0.7
phenotype	0.66
disease perturbation	0.62

Protein Classes

No PANTHER Classes or DTO Classes found

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 25.5   (req: < 5)

Gene RIFs: 5   (req: <= 3)

Antibodies: 41   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 25.5   (req: >= 5)

Gene RIFs: 5   (req: > 3)

Antibodies: 41   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 4

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0