TBCE

Tubulin-specific chaperone E is a protein that in humans is encoded by the TBCE gene.^[4][5]

PDBOrtholog search: PDBe RCSB

AliasesTBCE, HRD, KCS, KCS1, pac2, tubulin folding cofactor E, PEAMO

External IDsOMIM: 604934; MGI: 1917680; HomoloGene: 37744; GeneCards: TBCE; OMA:TBCE - orthologs

Chr.Chromosome 13 (mouse)^[1]

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TBCE
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes uniRank, 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)[1] Band 13 A1|13 5.29 cM Start 14,172,534 bp[1] End 14,214,223 bp[1]
RNA expression pattern Bgee Human Mouse (ortholog) 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 BioGPS 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 Species Human Mouse Entrez 6905 70430 Ensembl ENSG00000116957 ENSMUSG00000039233 UniProt Q15813 Q8CIV8 RefSeq (mRNA) NM_003193 NM_001079515 NM_001287801 NM_001287802 NM_178337 RefSeq (protein) NP_001072983 NP_001274730 NP_001274731 NP_003184 NP_848027 Location (UCSC) n/a Chr 13: 14.17 – 14.21 Mb PubMed search [2] [3]
Wikidata
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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.^[5]

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