TUBA4A (tubulin alpha 4a)

2003-11-01  

Identity

HGNC
LOCATION
2q35
LOCUSID
ALIAS
ALS22,H2-ALPHA,TUBA1
FUSION GENES

Other Information

Locus ID:

NCBI: 7277
MIM: 191110
HGNC: 12407
Ensembl: ENSG00000127824

Variants:

dbSNP: 7277
ClinVar: 7277
TCGA: ENSG00000127824
COSMIC: TUBA4A

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000127824ENST00000248437P68366
ENSG00000127824ENST00000392088P68366
ENSG00000127824ENST00000398989C9JDS9
ENSG00000127824ENST00000425551C9JDL2
ENSG00000127824ENST00000427737C9JQ00
ENSG00000127824ENST00000447205C9JEV8
ENSG00000127824ENST00000456818C9JJQ8

Expression (GTEx)

0
50
100
150
200
250

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
HemostasisREACTOMER-HSA-109582
Platelet activation, signaling and aggregationREACTOMER-HSA-76002
Response to elevated platelet cytosolic Ca2+REACTOMER-HSA-76005
Platelet degranulationREACTOMER-HSA-114608
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
253743582014Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS.91
120546442002Increased levels of tyrosinated alpha-, beta(III)-, and beta(IV)-tubulin isotypes in paclitaxel-resistant MCF-7 breast cancer cells.22
261039862015Involvement of 14-3-3 in tubulin instability and impaired axon development is mediated by Tau.21
205466122010The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature.19
223604202012Proteomic analysis identifies dysfunction in cellular transport, energy, and protein metabolism in different brain regions of atypical frontotemporal lobar degeneration.18
280693112017Investigating the role of ALS genes CHCHD10 and TUBA4A in Belgian FTD-ALS spectrum patients.15
206686892010Dynamic subunit exchange and the regulation of microtubule assembly by the stress response protein human alphaB crystallin.14
159349462005Protein tyrosine nitration in rat brain is associated with raft proteins, flotillin-1 and alpha-tubulin: effect of biological aging.12
242687072014Acetylated α-tubulin is reduced in individuals with poor sperm motility.8
206867802011Postmortem proteomic analysis in human amygdala of drug addicts: possible impact of tubulin on drug-abusing behavior.6

Citation

Dessen P

TUBA4A (tubulin alpha 4a)

Atlas Genet Cytogenet Oncol Haematol. 2003-11-01

Online version: http://atlasgeneticsoncology.org/gene/42729/tuba4a