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FLASH GENE
Symbol TUBB1 contributors: npt/ - updated : 16-01-2006
HGNC name tubulin, beta 1
HGNC id 16257
Corresponding disease
MTCP macrothrombocytopenia, TUBB1-related
Location 20q13.32      Physical location : 57.594.308 - 57.601.707
Synonym name beta tubulin 1, class VI
Synonym symbol(s) dJ543J19.4
DNA
TYPE functioning gene
STRUCTURE 7.40 kb     4 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
4 - 3496 - 451 - -
EXPRESSION
Type
constitutive of
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveintestinesmall intestine   
Nervousbrain    
Reproductivefemale systemovary   
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Blood / hematopoieticbone marrow   
Nervousperipherous   
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
secondary structure dimer of alpha and beta chains
mono polymer dimer
HOMOLOGY
interspecies ortholog to murine Tubb1
homolog to C.elegans mec-7
Homologene
FAMILY
  • tubulin family
  • CATEGORY structural protein
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm
    basic FUNCTION
  • major constituent of microtubules, binding two moles of GTP, one at an exchangeable site on the beta chain and one at a nonexchangeable site on the alpha-chain
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule nucleotide,
  • GTP binding
  • protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MTCP
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral somatic mutation      
    high incidence in non small cell lung cancer
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS