TBCE

TBCE
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	4ICU, 4ICV
Identifiers
Aliases	TBCE, HRD, KCS, KCS1, pac2, tubulin folding cofactor E, PEAMO
External IDs	OMIM: 604934; MGI: 1917680; HomoloGene: 37744; GeneCards: TBCE; OMA:TBCE - orthologs
Gene location (Mouse)
Chr.	Chromosome 13 (mouse)
End	14,214,223 bp
RNA expression pattern
	n/a
	Top expressed in
	neural layer of retina; ; genital tubercle; ; granulocyte; ; superior frontal gyrus; ; tail of embryo; ; primary visual cortex; ; cerebellar cortex; ; spermatid; ; neural tube; ; ganglionic eminence;
	; ;
	More reference expression data
Gene ontology
Molecular function	chaperone binding; protein binding; alpha-tubulin binding;
Cellular component	cytoplasm; microtubule; cytoskeleton;
Biological process	post-chaperonin tubulin folding pathway; protein folding; mitotic spindle organization; microtubule cytoskeleton organization; tubulin complex assembly;
	Sources:Amigo / QuickGO
Orthologs
	6905
	70430
	ENSG00000116957
	ENSMUSG00000039233
	Q15813
	Q8CIV8
	NM_003193; NM_001079515; NM_001287801; NM_001287802
	NM_178337
	NP_001072983; NP_001274730; NP_001274731; NP_003184
	NP_848027
	Wikidata
View/Edit Human	View/Edit Mouse

Tubulin-specific chaperone E is a protein that in humans is encoded by the TBCE gene.

Cofactor E is one of four proteins (cofactors A, D, E, and C) involved in the pathway leading to correctly folded beta-tubulin from folding intermediates. Cofactors A and D are believed to play a role in capturing and stabilizing beta-tubulin intermediates in a quasi-native confirmation. Cofactor E binds to the cofactor D/beta-tubulin complex; interaction with cofactor C then causes the release of beta-tubulin polypeptides that are committed to the native state. Two transcript variants encoding the same protein have been found for this gene.

The TBCE gene is either deleted or mutated in Sanjad-Sakati Syndrome