NP_001072983.1
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
64,852 Da
NCBI Official Full Name
tubulin-specific chaperone E isoform a
NCBI Official Synonym Full Names
tubulin folding cofactor E
NCBI Protein Information
tubulin-specific chaperone E
UniProt Protein Name
Tubulin-specific chaperone E
UniProt Synonym Protein Names
Tubulin-folding cofactor E
UniProt Entry Name
TBCE_HUMAN
NCBI Summary for TBCE
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]
UniProt Comments for TBCE
TBCE: 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. Defects in TBCE are a cause of hypoparathyroidism- retardation-dysmorphism syndrome (HRD); 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. Defects in TBCE are the cause of Kenny-Caffey syndrome type 1 (KCS1). KCS1 is similar to HRD with the additional features of osteosclerosis and recurrent bacterial infections. Belongs to the TBCE family.
Protein type: Chaperone
Chromosomal Location of Human Ortholog: 1q42.3
Cellular Component: microtubule; cytoplasm
Molecular Function: chaperone binding
Biological Process: developmental growth; 'de novo' posttranslational protein folding; cellular protein metabolic process; protein folding; adult locomotory behavior; muscle atrophy; microtubule cytoskeleton organization and biogenesis; post-chaperonin tubulin folding pathway; peripheral nervous system neuron axonogenesis; post-embryonic development
Disease: Hypoparathyroidism-retardation-dysmorphism Syndrome; Kenny-caffey Syndrome, Type 1
Research Articles on TBCE
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Products associated with TBCE sirna
Pathways associated with TBCE sirna
Diseases associated with TBCE sirna
Organs/Tissues associated with TBCE sirna
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