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FLASH GENE

Symbol

TUBB

contributors: mct - updated : 06-01-2016

HGNC name	tubulin, beta
HGNC id	20778

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	CDCBM6 cortical dysplasia, complex, with other brain malformations 6 CSCKT1 circumferential skin creases Kunze type syndrome 1
Location	6p21.33      Physical location : 1.981.087 - 30.693.193
Synonym name	beta 5-tubulin
	tubulin beta-1 chain
	beta-4 tubulin
	beta Ib tubulin
Synonym symbol(s)	TUBB1, TUBB5, M40, OK/SW-cl.56, MGC117247, MGC16435, CDCBM6

DNA

TYPE	functioning gene
STRUCTURE	5.23 kb     4 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

Map

see MHC1

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001293212 4 - 2772 NP_001280141 - 464 - - NM_178014 4 - 2688 NP_821133 - 444 - - NM_001293213 5 - 2082 NP_001280142 - 242 - - NM_001293214 3 - 2556 NP_001280143 - 400 - - NM_001293215 4 - 2675 NP_001280144 - 372 - - NM_001293216 4 - 2574 NP_001280145 - 372 - -

EXPRESSION

Type

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 intestine small intestine       Nervous brain         Reproductive female system ovary

tissue

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

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES		acid
STRUCTURE

motifs/domains

conjugated

PhosphoP

mono polymer

heteromer , dimer

HOMOLOGY

interspecies	homolog to rattus Tubb5 (100 pc)
	homolog to murine Tubb5 (100 pc)

Homologene

FAMILY

tubulin family

CATEGORY

structural protein

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

basic FUNCTION	being the major constituent of microtubules
	is necessary for the proper generation and migration of neurons
	is essential for neuronal differentiation and dendritic spine formation

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

dimer of alpha and beta chains

INTERACTION

DNA

RNA

small molecule	metal binding, nucleotide,
	cations such as calcium
	GTP

protein	interaction between TRPV4 and tubulin beta 5 by associating together
	ADAP2 interaction with TUBB involving the C-terminal region of TUBB

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

CSCKT1 , CDCBM6

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS