FAM111A Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | FAM111A |
| Official Name | FAM111 trypsin like peptidase A [Source:HGNC Symbol;Acc:HGNC:24725] |
| Ensembl ID | ENSG00000166801 |
| Bio databases IDs | |
| Aliases | FAM111 trypsin like peptidase A |
| Synonyms | 4632417K18Rik, FAM111 trypsin like peptidase A, family with sequence similarity 111, member A, FLJ22794, GCLEB, KCS2, RGD1560913 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human FAM111A often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Tryp_SPc
- single-stranded DNA binding
- Trypsin-like peptidase domain
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- hereditary disorder
- Kenny-Caffey syndrome type 2
- glioblastoma
- glioblastoma cancer
- gracile bone dysplasia
role in cell
- production in
- apoptosis
- cell viability
- replication in
- association
- association in
- transcription in
- DNA damage response
- processing
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- fibrillar center
- Cytoplasm
- nucleoplasm
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human FAM111A gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- DNA replication
- proteolysis
- replication fork processing
- protein autoprocessing
- response to DNA damage stimulus
- negative regulation of viral genome replication
Cellular Component
Where in the cell the gene product is active
- nucleus
- cytoplasm
- chromatin
- fibrillar center
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- protein binding
- peptidase activity
- single-stranded DNA binding