TUBA1A (tubulin alpha 1a)

2003-08-01  

Identity

HGNC
LOCATION
12q13.12
LOCUSID
ALIAS
B-ALPHA-1,LIS3,TUBA3
FUSION GENES

Other Information

Locus ID:

NCBI: 7846
MIM: 602529
HGNC: 20766
Ensembl: ENSG00000167552

Variants:

dbSNP: 7846
ClinVar: 7846
TCGA: ENSG00000167552
COSMIC: TUBA1A

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000167552ENST00000295766Q71U36
ENSG00000167552ENST00000301071Q71U36
ENSG00000167552ENST00000546918F8W0F6
ENSG00000167552ENST00000547939F8VQQ4
ENSG00000167552ENST00000550767Q71U36
ENSG00000167552ENST00000550811F8VXZ7
ENSG00000167552ENST00000552924F8VRZ4

Expression (GTEx)

0
500
1000
1500
2000

Pathways

PathwaySourceExternal ID
ApoptosisKEGGko04210
Tight junctionKEGGko04530
Gap junctionKEGGko04540
Pathogenic Escherichia coli infectionKEGGko05130
ApoptosisKEGGhsa04210
Tight junctionKEGGhsa04530
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
Organelle biogenesis and maintenanceREACTOMER-HSA-1852241
Cilium AssemblyREACTOMER-HSA-5617833
Anchoring of the basal body to the plasma membraneREACTOMER-HSA-5620912
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

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
172182542007Mutations in alpha-tubulin cause abnormal neuronal migration in mice and lissencephaly in humans.158
175848542007Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A).81
204667332010TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins.59
173892322007Recognition of C-terminal amino acids in tubulin by pore loops in Spastin is important for microtubule severing.58
233610652013Overlapping cortical malformations and mutations in TUBB2B and TUBA1A.42
262273342015Tubulin acetylation: responsible enzymes, biological functions and human diseases.42
194059532009Proteome analysis of schizophrenia patients Wernicke's area reveals an energy metabolism dysregulation.38
187280722008Refinement of cortical dysgeneses spectrum associated with TUBA1A mutations.37
186694902008Neuropathological phenotype of a distinct form of lissencephaly associated with mutations in TUBA1A.33
189544132008Refining the phenotype of alpha-1a Tubulin (TUBA1A) mutation in patients with classical lissencephaly.30

Citation

Dessen P

TUBA1A (tubulin alpha 1a)

Atlas Genet Cytogenet Oncol Haematol. 2003-08-01

Online version: http://atlasgeneticsoncology.org/gene/42730/tuba1a-(tubulin-alpha-1a)