TBCE

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TBCE
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesTBCE, HRD, KCS, KCS1, pac2, tubulin folding cofactor E, PEAMO
External IDsOMIM: 604934 MGI: 1917680 HomoloGene: 37744 GeneCards: TBCE
RNA expression pattern
PBB GE TBCE 203714 s at fs.png

PBB GE TBCE 203715 at fs.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
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/aChr 13: 14 – 14.04 Mb
PubMed search[2][3]
Wikidata
View/Edit HumanView/Edit Mouse

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

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

References[edit]

  1. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000039233 - Ensembl, May 2017
  2. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  3. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ Tian G, Huang Y, Rommelaere H, Vandekerckhove J, Ampe C, Cowan NJ (Sep 1996). "Pathway leading to correctly folded beta-tubulin". Cell. 86 (2): 287–96. doi:10.1016/S0092-8674(00)80100-2. PMID 8706133.
  5. ^ a b "Entrez Gene: TBCE tubulin folding cofactor E".

Further reading[edit]