UniProt Protein Function: | FAM111A: Belongs to the FAM111 family.Protein type: Unknown functionChromosomal Location of Human Ortholog: 11q12.1Cellular Component: cytoplasm; nucleus; chromatinMolecular Function: protein binding; catalytic activityBiological Process: negative regulation of viral genome replication; viral reproduction; DNA replication; defense response to virusDisease: Kenny-caffey Syndrome, Type 2; Gracile Bone Dysplasia |
UniProt Protein Details: | |
NCBI Summary: | 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 Code: | Q96PZ2 |
NCBI GenInfo Identifier: | 215983094 |
NCBI Gene ID: | 63901 |
NCBI Accession: | NP_001135991.1 |
UniProt Secondary Accession: | Q96PZ2,Q5RKS9, Q5XKM2, Q68DK9, Q6IPR7, Q9H5Y1, A8K5Y8 |
UniProt Related Accession: | Q96PZ2 |
Molecular Weight: | 70,196 Da |
NCBI Full Name: | protein FAM111A |
NCBI Synonym Full Names: | family with sequence similarity 111, member A |
NCBI Official Symbol: | FAM111AÂ Â |
NCBI Official Synonym Symbols: | KCS2; GCLEBÂ Â |
NCBI Protein Information: | protein FAM111A |
UniProt Protein Name: | Protein FAM111A |
UniProt Synonym Protein Names: | |
Protein Family: | Protein |
UniProt Gene Name: | FAM111AÂ Â |
UniProt Entry Name: | F111A_HUMAN |