InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: TBCE

Summary

InnateDB Protein

IDBP-295746.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

TBCE

Protein Name

tubulin folding cofactor E

Synonyms

HRD; KCS; KCS1; pac2;

Species

Homo sapiens

Ensembl Protein

ENSP00000384571

InnateDB Gene

IDBG-107548 (TBCE)

Protein Structure

UniProt Annotation

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. {ECO:0000269PubMed:11847227}.

Subcellular Localization

Cytoplasm {ECO:0000250}. Cytoplasm, cytoskeleton {ECO:0000250}.

Disease Associations

Hypoparathyroidism-retardation-dysmorphism syndrome (HRD) [MIM:241410]: Autosomal recessive disorder reported almost exclusively in Middle Eastern populations. {ECO:0000269PubMed:12389028}. Note=The disease is caused by mutations affecting the gene represented in this entry.Kenny-Caffey syndrome 1 (KCS1) [MIM:244460]: An autosomal recessive form of Kenny-Caffey syndrome, a disorder characterized by impaired skeletal development with small and dense bones, short stature, and primary hypoparathyroidism with hypocalcemia. Clinical features include cortical thickening and medullary stenosis of the tubular bones, delayed closure of fontanels, defective dentition, small eyes with hypermetropia, and frontal bossing with a triangular face. {ECO:0000269PubMed:12389028}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 8 experimentally validated interaction(s) in this database.

Experimentally validated
Total	8 [view]
Protein-Protein	7 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0051087	chaperone binding

Biological Process

GO:0006457	protein folding
GO:0007023	post-chaperonin tubulin folding pathway
GO:0044267	cellular protein metabolic process
GO:0051084	'de novo' posttranslational protein folding