TUBA1A (tubulin alpha 1a)

2003-08-01  

Identity

HGNC
TUBA1A
LOCATION
12q13.12
LOCUSID
7846
ALIAS
B-ALPHA-1,LIS3,TUBA3
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
378737302023TUBA1A licenses APC/C-mediated mitotic progression to drive glioblastoma growth by inhibiting PLK3.0
378737302023TUBA1A licenses APC/C-mediated mitotic progression to drive glioblastoma growth by inhibiting PLK3.0
345081642022αTAT1-induced tubulin acetylation promotes ameloblastoma migration and invasion.5
350176932022Complementing the phenotypical spectrum of TUBA1A tubulinopathy and its role in early-onset epilepsies.6
355110302022TUBA1A tubulinopathy mutants disrupt neuron morphogenesis and override XMAP215/Stu2 regulation of microtubule dynamics.6
345081642022αTAT1-induced tubulin acetylation promotes ameloblastoma migration and invasion.5
350176932022Complementing the phenotypical spectrum of TUBA1A tubulinopathy and its role in early-onset epilepsies.6
355110302022TUBA1A tubulinopathy mutants disrupt neuron morphogenesis and override XMAP215/Stu2 regulation of microtubule dynamics.6
336495412021Novel variants in TUBA1A cause congenital fibrosis of the extraocular muscles with or without malformations of cortical brain development.11
341858192021Novel proteins associated with chronic intermittent hypoxia and obstructive sleep apnea: From rat model to clinical evidence.0
336495412021Novel variants in TUBA1A cause congenital fibrosis of the extraocular muscles with or without malformations of cortical brain development.11
341858192021Novel proteins associated with chronic intermittent hypoxia and obstructive sleep apnea: From rat model to clinical evidence.0
315745702020Tubulin mutations in brain development disorders: Why haploinsufficiency does not explain TUBA1A tubulinopathies.15
317676812020Structure of spastin bound to a glutamate-rich peptide implies a hand-over-hand mechanism of substrate translocation.22
318332002020Microcephaly with a simplified gyral pattern in a child with a de novo TUBA1A variant.4

Citation

Dessen P

TUBA1A (tubulin alpha 1a)

Atlas Genet Cytogenet Oncol Haematol. 2003-08-01

Online version: http://atlasgeneticsoncology.org/gene/42730/gene-explorer/deep-insight-explorer/