TUBA4A
Tubulin alpha-4A chain
Also known as: FLJ30169, H2-ALPHA, TBA4A_HUMAN, TUBA1
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P68366
- Gene
- TUBA4A
- Ensembl
- ENSG00000127824
- Chromosome
- 2
- Canonical length
- 448 aa
- Protein class
- Disease related genes, FDA approved drug targets, Human disease related genes, Plasma proteins, Predicted intracellular proteins
- Subcellular location
- Microtubules,Primary cilium
OverviewNCBI Gene
Microtubules of the eukaryotic cytoskeleton perform essential and diverse functions and are composed of a heterodimer of alpha and beta tubulin. The genes encoding these microtubule constituents are part of the tubulin superfamily, which is composed of six distinct families. Genes from the alpha, beta and gamma tubulin families are found in all eukaryotes. The alpha and beta tubulins represent the major components of microtubules, while gamma tubulin plays a critical role in the nucleation of microtubule assembly. There are multiple alpha and beta tubulin genes and they are highly conserved among and between species. This gene encodes an alpha tubulin that is a highly conserved homolog of a rat testis-specific alpha tubulin. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2013]
Canonical amino-acid sequenceUniProt
448 residues, UniProt reviewed canonical sequence.
>P68366|TUBA4A
1 MRECISVHVG QAGVQMGNAC WELYCLEHGI QPDGQMPSDK TIGGGDDSFT TFFCETGAGK
61 HVPRAVFVDL EPTVIDEIRN GPYRQLFHPE QLITGKEDAA NNYARGHYTI GKEIIDPVLD
121 RIRKLSDQCT GLQGFLVFHS FGGGTGSGFT SLLMERLSVD YGKKSKLEFS IYPAPQVSTA
181 VVEPYNSILT THTTLEHSDC AFMVDNEAIY DICRRNLDIE RPTYTNLNRL ISQIVSSITA
241 SLRFDGALNV DLTEFQTNLV PYPRIHFPLA TYAPVISAEK AYHEQLSVAE ITNACFEPAN
301 QMVKCDPRHG KYMACCLLYR GDVVPKDVNA AIAAIKTKRS IQFVDWCPTG FKVGINYQPP
361 TVVPGGDLAK VQRAVCMLSN TTAIAEAWAR LDHKFDLMYA KRAFVHWYVG EGMEEGEFSE
421 AREDMAALEK DYEEVGIDSY EDEDEGEELocalizationUniProt · AlphaFold · HPA
Whether an antibody against TUBA4A can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.22
- Highest tissue expression
- 346 nTPM
Expression across tissuesHPA
Tissue
- skeletal muscle: 346 nTPM
- tongue: 249 nTPM
- skin: 183 nTPM
- cerebral cortex: 154 nTPM
- bone marrow: 104 nTPM
- heart muscle: 100 nTPM
Single-cell type
- platelets: 3,539 nCPM
- late spermatids: 1,174 nCPM
- megakaryocytes: 983 nCPM
- early spermatids: 574 nCPM
- esophageal suprabasal cells: 573 nCPM
- suprabasal keratinocytes: 466 nCPM
Immune cell
- neutrophil: 334 nTPM
- total PBMC: 272 nTPM
- eosinophil: 175 nTPM
- memory CD4 T-cell: 155 nTPM
- memory CD8 T-cell: 151 nTPM
- T-reg: 150 nTPM
Brain region
- cerebral cortex: 331 nTPM
- white matter: 162 nTPM
- medulla oblongata: 152 nTPM
- basal ganglia: 135 nTPM
- pons: 122 nTPM
- hypothalamus: 122 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about TUBA4A.
Disease | AllUniProt
Conditions TUBA4A is implicated in, by any mechanism.
- Frontotemporal dementia and/or amyotrophic lateral sclerosis 9 (FTDALS9) MIM:616208
- Congenital myopathy 26 (CMYO26) MIM:621225
- Spastic ataxia 11, autosomal dominant (SPAX11) MIM:621226
- Oocyte/zygote/embryo maturation arrest 23 (OZEMA23) MIM:621231
Disease | GeneticClinVar
18 pathogenic / likely-pathogenic of 116 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Amyotrophic lateral sclerosis type 22
- Oocyte/zygote/embryo maturation arrest 23
- Spastic ataxia 11, autosomal dominant
- Congenital myopathy 26
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.62
- gnomAD pLI
- 0.16
- gnomAD missense Z
- 3.3
- DepMap mean gene effect
- -0.08
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
Molecular functions
- GTP binding
- hydrolase activity
- metal ion binding
- protein kinase binding
- structural constituent of cytoskeleton
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of TUBA4A in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads TUBA4A as an antibody target. Whether an autoantibody or antibody against TUBA4A could matter depends on whether native TUBA4A is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
TUBA4A is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label TUBA4A as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
Loading the interactive Seroatlas protein explorer...