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FLASH GENE

Symbol

TBCE

contributors: mct/npt - updated : 23-11-2016

HGNC name	tubulin folding cofactor E
HGNC id	11582

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	81.61 kb     17 Exon(s)

Genomic sequence alignment details
10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001079515 17 - 1973 NP_001072983 - 527 - 2015 25908846 NM_003193 17 - 1925 NP_003184 - 527 - 2015 25908846 NM_001287801 18 - 2130 NP_001274730 - 578 - 2015 25908846 NM_001287802 16 - 1948 NP_001274731 - 414 - 2015 25908846

EXPRESSION

Type

widely

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular heart       highly Digestive liver       lowly Endocrine pancreas       lowly Nervous brain       lowly Reproductive male system prostate     highly Respiratory lung       lowly Urinary kidney       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial secretory glandular endocrine   Epithelial secretory glandular exocrine   Muscular striatum skeletal

cells

System Cell Pubmed Species Stage Rna symbol Endocrine islet cell (alpha,beta...)

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	N-terminal CAP-Gly domain, a motif mediating protein binding to alpha-tubulin, followed by
	nine tandemly arranged leucine-rich repeat (LRR) motifs,
	a C-terminal ubiquitin-like domain possibly implicated in alpha-tubulin degradation via the proteasome

HOMOLOGY

interspecies

ortholog to murine Tbce

Homologene

FAMILY

TBCE family

CATEGORY

chaperone/stress

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,Golgi
	intracellular,cytoplasm,cytosolic
	intracellular,cytoplasm,cytoskeleton,microtubule
text	peripheral membrane-associated protein that accumulates at the Golgi apparatus (Schaefer 2007)
	is concentrated at the Golgi membrane in an Arf1-regulated manner and facilitates both nucleation rates and polymerization speed of Golgi-derived microtubules

basic FUNCTION	involved in the pathway leading to correctly folded beta-tubulin from folding intermediates and in maintenance of microtubule in motor axons
	implicated in microtubule dynamics through regulation of tubulin heterodimer dissociation (Kortazar 2007)
	tubulin chaperone with critical role in axonal tubulin routing from the Golgi apparatus (Schaefer 2007)
	plays a critical role in the formation of the parathyroid opens (Parvari 2007)
	required for the normal development and function of neuromuscular synapses and promotes microtubule formation (Jin 2009)
	is required for the folding of alpha-tubulin, alpha/beta-tubulin dimerization, and subsequent heterodimer polymerization into microtubules, which are major components of the cytoskeleton
	TBCD and TBCE are also capable of acting in a reverse reaction in which they disrupt native heterodimers

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

TBCE, TBCB and alpha-tubulin form a ternary complex after heterodimer dissociation, whereas the free beta-tubulin subunit is recovered by TBCA (Kortazar 2007)

INTERACTION

DNA

RNA

small molecule

protein

ARF1/TBCE-mediated cross-talk that coordinates COPI formation and tubulin polymerization at the Golgi

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

HRD , KCS , EDSMA

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

gene defect in the pmn/pmn mouse is a missense mutation leading to a disturbance of tubulin structures in the auditory nerve and a progressive outer hair cell loss due to apoptosis with progressive hearing loss