tbce-1

Caenorhabditis elegans

Predicted to enable alpha-tubulin binding activity. Predicted to be involved in microtubule cytoskeleton organization; post-chaperonin tubulin folding pathway; and tubulin complex assembly. Located in cytoplasm. Human ortholog(s) of this gene implicated in Kenny-Caffey syndrome type 1; hypoparathyroidism; and hypoparathyroidism-retardation-dysmorphism syndrome. Is an ortholog of human TBCE (tubulin folding cofactor E).

key

Drosophila melanogaster

kenny (key) encodes a scaffold protein that is a component of the IKK (IkappaB Kinase) complex, which participates in the activation of the transcription factor Rel in the Imd pathway. This pathway regulates the antibacterial response and other less characterized cellular processes.

Fam111a

Rattus norvegicus

Predicted to enable single-stranded DNA binding activity. Predicted to be involved in DNA metabolic process; negative regulation of viral genome replication; and protein autoprocessing. Predicted to be located in cytoplasm; fibrillar center; and nucleoplasm. Predicted to be part of chromatin. Predicted to be active in nucleus. Human ortholog(s) of this gene implicated in Kenny-Caffey syndrome type 2. Orthologous to human FAM111A (FAM111 trypsin like peptidase A); INTERACTS WITH 17beta-estradiol; 2,2',4,4'-Tetrabromodiphenyl ether; 2,3,7,8-tetrachlorodibenzodioxine.

Tbce

Rattus norvegicus

Predicted to enable alpha-tubulin binding activity. Predicted to be involved in mitotic spindle organization; post-chaperonin tubulin folding pathway; and tubulin complex assembly. Predicted to act upstream of or within several processes, including adult locomotory behavior; muscle atrophy; and peripheral nervous system neuron axonogenesis. Predicted to be located in cytoskeleton. Predicted to be active in cytoplasm. Human ortholog(s) of this gene implicated in Kenny-Caffey syndrome type 1; hypoparathyroidism; and hypoparathyroidism-retardation-dysmorphism syndrome. Orthologous to human TBCE (tubulin folding cofactor E); INTERACTS WITH 17alpha-ethynylestradiol; 2,3,7,8-tetrachlorodibenzodioxine; 2,4-dinitrotoluene.

Fam111a

Homo sapiens

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]