TUBB1 (tubulin beta 1 class VI)

2007-02-01  

Identity

HGNC
LOCATION
20q13.32
LOCUSID
ALIAS
-
FUSION GENES

Other Information

Locus ID:

NCBI: 81027
MIM: 612901
HGNC: 16257
Ensembl: ENSG00000101162

Variants:

dbSNP: 81027
ClinVar: 81027
TCGA: ENSG00000101162
COSMIC: TUBB1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000101162ENST00000217133Q9H4B7

Expression (GTEx)

0
5
10
15
20

Pathways

PathwaySourceExternal ID
Gap junctionKEGGko04540
Pathogenic Escherichia coli infectionKEGGko05130
Gap junctionKEGGhsa04540
Pathogenic Escherichia coli infectionKEGGhsa05130
PhagosomeKEGGko04145
PhagosomeKEGGhsa04145
Metabolism of proteinsREACTOMER-HSA-392499
Protein foldingREACTOMER-HSA-391251
Chaperonin-mediated protein foldingREACTOMER-HSA-390466
Cooperation of Prefoldin and TriC/CCT in actin and tubulin foldingREACTOMER-HSA-389958
Prefoldin mediated transfer of substrate to CCT/TriCREACTOMER-HSA-389957
Formation of tubulin folding intermediates by CCT/TriCREACTOMER-HSA-389960
Post-chaperonin tubulin folding pathwayREACTOMER-HSA-389977

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA443560Breast NeoplasmsDiseaseClinicalAnnotationassociated25148458
PA448432anastrozoleChemicalClinicalAnnotationassociated25148458
PA449563exemestaneChemicalClinicalAnnotationassociated25148458

References

Pubmed IDYearTitleCitations
188494862009Mutation of the beta1-tubulin gene associated with congenital macrothrombocytopenia affecting microtubule assembly.32
179934812008Conformational analysis of the carboxy-terminal tails of human beta-tubulin isotypes.18
223604202012Proteomic analysis identifies dysfunction in cellular transport, energy, and protein metabolism in different brain regions of atypical frontotemporal lobar degeneration.18
159562862005The TUBB1 Q43P functional polymorphism reduces the risk of cardiovascular disease in men by modulating platelet function and structure.17
159562862005The TUBB1 Q43P functional polymorphism reduces the risk of cardiovascular disease in men by modulating platelet function and structure.17
153159662004Interactions between the megakaryocyte/platelet-specific beta1 tubulin and the secretory leukocyte protease inhibitor SLPI suggest a role for regulated proteolysis in platelet functions.11
243446102014TUBB1 mutation disrupting microtubule assembly impairs proplatelet formation and results in congenital macrothrombocytopenia.11
174886622007The association of the beta1-tubulin Q43P polymorphism with intracerebral hemorrhage in men.10
199962742009Natural product derivative Bis(4-fluorobenzyl)trisulfide inhibits tumor growth by modification of beta-tubulin at Cys 12 and suppression of microtubule dynamics.7
248946702014Association of ABCB1, β tubulin I, and III with multidrug resistance of MCF7/DOC subline from breast cancer cell line MCF7.7

Citation

Dessen P

TUBB1 (tubulin beta 1 class VI)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/43959/tubb1