TUBB (tubulin beta class I)

2007-02-01  

Identity

HGNC
LOCATION
6p21.33
LOCUSID
ALIAS
CDCBM6,CSCSC1,M40,OK/SW-cl.56,TUBB1,TUBB5
FUSION GENES

Other Information

Locus ID:

NCBI: 203068
MIM: 191130
HGNC: 20778
Ensembl: ENSG00000196230

Variants:

dbSNP: 203068
ClinVar: 203068
TCGA: ENSG00000196230
COSMIC: TUBB

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000196230ENST00000327892P07437
ENSG00000196230ENST00000327892Q5SU16
ENSG00000196230ENST00000330914Q5ST81
ENSG00000196230ENST00000396384Q5ST81
ENSG00000196230ENST00000396389Q5JP53

Expression (GTEx)

0
500
1000
1500

Pathways

PathwaySourceExternal ID
Gap junctionKEGGko04540
Pathogenic Escherichia coli infectionKEGGko05130
Gap junctionKEGGhsa04540
Pathogenic Escherichia coli infectionKEGGhsa05130
PhagosomeKEGGko04145
PhagosomeKEGGhsa04145
Organelle biogenesis and maintenanceREACTOMER-HSA-1852241
Cilium AssemblyREACTOMER-HSA-5617833
Anchoring of the basal body to the plasma membraneREACTOMER-HSA-5620912
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
Cell CycleREACTOMER-HSA-1640170
Cell Cycle, MitoticREACTOMER-HSA-69278
Mitotic G2-G2/M phasesREACTOMER-HSA-453274
G2/M TransitionREACTOMER-HSA-69275
Regulation of PLK1 Activity at G2/M TransitionREACTOMER-HSA-2565942
Centrosome maturationREACTOMER-HSA-380287
Recruitment of mitotic centrosome proteins and complexesREACTOMER-HSA-380270
Loss of proteins required for interphase microtubule organization from the centrosomeREACTOMER-HSA-380284
Loss of Nlp from mitotic centrosomesREACTOMER-HSA-380259
AURKA Activation by TPX2REACTOMER-HSA-8854518
Neutrophil degranulationREACTOMER-HSA-6798695

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
232460032012Mutations in the β-tubulin gene TUBB5 cause microcephaly with structural brain abnormalities.54
163715102006Microtubule regulation in mitosis: tubulin phosphorylation by the cyclin-dependent kinase Cdk1.52
198514452009High-density SNP screening of the major histocompatibility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions.51
242756542014A direct interaction between leucine-rich repeat kinase 2 and specific β-tubulin isoforms regulates tubulin acetylation.40
194059532009Proteome analysis of schizophrenia patients Wernicke's area reveals an energy metabolism dysregulation.38
150031982004Do beta-tubulin mutations have a role in resistance to chemotherapy?34
213272972011Targeting S100P inhibits colon cancer growth and metastasis by Lentivirus-mediated RNA interference and proteomic analysis.32
201035992010Human mutations that confer paclitaxel resistance.25
223604202012Proteomic analysis identifies dysfunction in cellular transport, energy, and protein metabolism in different brain regions of atypical frontotemporal lobar degeneration.18
206770142010An approach based on a genome-wide association study reveals candidate loci for narcolepsy.16

Citation

Dessen P

TUBB (tubulin beta class I)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/43650/tubb