Human Gene TBCE (uc001hxa.1) Description and Page Index
Description: Homo sapiens tubulin folding cofactor E (TBCE), transcript variant 1, mRNA. RefSeq Summary (NM_001079515): 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. [provided by RefSeq, Jul 2008]. Transcript (Including UTRs) Position: hg19 chr1:235,530,728-235,612,280 Size: 81,553 Total Exon Count: 17 Strand: + Coding Region Position: hg19 chr1:235,543,365-235,612,077 Size: 68,713 Coding Exon Count: 16
ID:TBCE_HUMAN DESCRIPTION: RecName: Full=Tubulin-specific chaperone E; AltName: Full=Tubulin-folding cofactor E; FUNCTION: Tubulin-folding protein; involved in the second step of the tubulin folding pathway. Seems to be implicated in the maintenance of the neuronal microtubule network. Involved in regulation of tubulin heterodimer dissociation. SUBUNIT: Supercomplex made of cofactors A to E. Cofactors A and D function by capturing and stabilizing tubulin in a quasi-native conformation. Cofactor E binds to the cofactor D-tubulin complex; interaction with cofactor C then causes the release of tubulin polypeptides that are committed to the native state. Cofactors B and E can form a heterodimer which binds to alpha-tubulin and enhances their ability to dissociate tubulin heterodimers. SUBCELLULAR LOCATION: Cytoplasm (By similarity). Cytoplasm, cytoskeleton (By similarity). DISEASE: Defects in TBCE are a cause of hypoparathyroidism- retardation-dysmorphism syndrome (HRD) [MIM:241410]; also known as hypoparathyroidism with short stature, mental retardation, and seizures or Sanjad-Sakati syndrome. HRD is an autosomal recessive disorder reported almost exclusively in Middle Eastern populations. DISEASE: Defects in TBCE are the cause of Kenny-Caffey syndrome type 1 (KCS1) [MIM:244460]. KCS1 is similar to HRD with the additional features of osteosclerosis and recurrent bacterial infections. SIMILARITY: Belongs to the TBCE family. SIMILARITY: Contains 1 CAP-Gly domain. SIMILARITY: Contains 7 LRR (leucine-rich) repeats. SIMILARITY: Contains 1 LRRCT domain.
Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): TBCE CDC HuGE Published Literature: TBCE Positive Disease Associations: adiposity Related Studies:
adiposity Lindgren ,et al. 2009, Genome-Wide Association Scan Meta-Analysis Identifies Three Loci Influencing Adiposity and Fat Distribution, PLoS genetics 2009 5- 6 : e1000508.
Adiposity Cecilia M Lindgren et al. PLoS genetics 2009, Genome-wide association scan meta-analysis identifies three Loci influencing adiposity and fat distribution., PLoS genetics.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q15813
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.