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FLASH GENE

Symbol

TUBB3

contributors: mct/npt/shn/pgu - updated : 02-02-2022

HGNC name	tubulin, beta 3
HGNC id	20774

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	CFEOM3A congenital fibrosis of the extraocular muscles, 3 PMGAD polymicrogyria with axon guidance defects
Location	16q24.3      Physical location : 89.989.744 - 90.002.505
Synonym name	tubulin beta-3 chain
	tubulin beta-4 chain
	tubulin beta-III
Synonym symbol(s)	TUBB4, MC1R, beta-4, CFEOM3A, CDCBM, CDCBM1, CFEOM3, FEOM3,

DNA

TYPE	functioning gene
STRUCTURE	12.76 kb     4 Exon(s)

MAPPING

cloned

Y

linked

N

status

confirmed

Map	cen - D16S3026 - D16S3121 - TUBB3 - qter

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_006086 (transcript variant 1) 12 splicing 1736 NP_006077 - 450 - 2010 20074521 NM_001197181 (transcript variant 2) 5 splicing 1851 NP_001184110 - 378 - 2010 20074521

EXPRESSION

Type	ubiquitous

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 Digestive mouth tongue (see gustatory)         salivary gland       highly Endocrine pancreas         Lymphoid/Immune tonsils       moderately Nervous brain       highly   nerve cranial nerve     moderately   nerve       predominantly Visual eye       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Nervous peripherous

cell lineage
cell lines
fluid/secretion	moderately in lymph

at STAGE

physiological period

embryo

Text	moderately in embryonic tissue

PROTEIN

PHYSICAL PROPERTIES		acid
STRUCTURE

motifs/domains

a highly acidic C-terminal region that may bind cations such as calcium

mono polymer

heteromer , dimer

HOMOLOGY

interspecies	ortholog to Tubb3, Mus musculus
	ortholog to Tubb3, Rattus norvegicus

Homologene

FAMILY

tubulin family

CATEGORY

structural protein

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytoskeleton,microtubule
	intracellular,nucleus

basic FUNCTION	acting as a GTPase
	acting as a melanocyte stimulating hormone receptor
	acting as a rhodopsin-like receptor
	betaIII-tubulin diminishes microtubule assembly, is toxic when present at high levels, but is able to confer weak resistance to paclitaxel when expressed at moderate levels in mammalian cells
	survival factor able to directly contribute to drug resistance
	required for axon guidance and maintenance, and necessary for guidance of commissural fibers and cranial nerve
	TUBB3 directly links NTN1 signaling pathways to MT dynamics and plays an important role in guiding commissural axons
	while TUBB3 is not required for formation of the nervous system, it has a specific role in the rate of peripheral axon regeneration that cannot be replaced by other beta-tubulins

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

signal transduction

G-protein coupled receptor protein signaling pathway

a component	involved in a heterodimer of alpha and beta chains
	being the major constituent of microtubules

INTERACTION

DNA

RNA

small molecule	nucleotide,
	GTP (two moles, one at an exchangeable site on the beta chain and one at a nonexchangeable site on the alpha-chain)

protein	regulates expression of proteins associated with malignant growth and metastases
	expression of relatively low levels of TUBB3 in mitotic cells can be detrimental for their cytokinesis and underscore the importance of CIT in counteracting this event
	disengagement of UNC5C with polymerized TUBB3 plays an essential role in NTN-1/UNC5C-mediated axon repulsion
	NTN1, a canonical guidance cue, induced the interaction of TUBB3 with the netrin receptor DCC
	TUBA1B and TUBB3, were identified as the novel CLDN11-interacting proteins, and CLDN11 interacted with these two tubulins through its intracellular loop and C-terminus
	direct coupling of dynamic TUBB3 in microtubules with netrin receptors is required for NTN1-mediated axon guidance, and the interaction of NTN1 repulsive receptor UNC5C with TUBB3 is involved in NTN1 mediated axonal repulsion
	interaction of exogenous RILPL2 with TUBB3 resulted in the downregulation of Breast canncer cell proliferation and migration and upregulation of PTEN expression by promoting destabilization of TUBB3

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

CFEOM3A , PMGAD

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --low   in most tumors

Susceptibility

Variant & Polymorphism

Candidate gene	marker of drug resistance in human cancer
Marker
Therapy target

ANIMAL & CELL MODELS