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Family with sequence similarity 111, member A (HGNC Symbol)
Entrez gene 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]
Q96PZ2 [Direct mapping] Protein FAM111A A0A024R4Z3 [Target identity:100%; Query identity:100%] Family with sequence similarity 111, member A, isoform CRA_a
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THUMBUP predicted membrane proteins Predicted intracellular proteins Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Q96PZ2 [Direct mapping] Protein FAM111A A0A024R4Z3 [Target identity:100%; Query identity:100%] Family with sequence similarity 111, member A, isoform CRA_a
Show all
THUMBUP predicted membrane proteins Predicted intracellular proteins Disease related genes Protein evidence (Ezkurdia et al 2014)
Q96PZ2 [Direct mapping] Protein FAM111A A0A024R4Z3 [Target identity:100%; Query identity:100%] Family with sequence similarity 111, member A, isoform CRA_a
Show all
THUMBUP predicted membrane proteins Predicted intracellular proteins Disease related genes Protein evidence (Ezkurdia et al 2014)
Q96PZ2 [Direct mapping] Protein FAM111A A0A024R4Z3 [Target identity:100%; Query identity:100%] Family with sequence similarity 111, member A, isoform CRA_a
Show all
THUMBUP predicted membrane proteins Predicted intracellular proteins Disease related genes Protein evidence (Ezkurdia et al 2014)
Q96PZ2 [Direct mapping] Protein FAM111A A0A024R4Z3 [Target identity:100%; Query identity:100%] Family with sequence similarity 111, member A, isoform CRA_a
Show all
THUMBUP predicted membrane proteins Predicted intracellular proteins Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
