Seroatlas · Human Serome Atlas

TUBA1A

Tubulin alpha-1A chain

Also known as: B-ALPHA-1, FLJ25113, TBA1A_HUMAN, TUBA3

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q71U36
Gene: TUBA1A
Ensembl: ENSG00000167552
Chromosome: 12
Canonical length: 451 aa
Protein class: Cancer-related genes, Disease related genes, FDA approved drug targets, Human disease related genes, Predicted intracellular proteins, Transporters
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 tubulins. The genes encoding these microtubule constituents belong to 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, which are highly conserved among species. This gene encodes alpha tubulin and is highly similar to the mouse and rat Tuba1 genes. Northern blot studies have shown that the gene expression is predominantly found in morphologically differentiated neurologic cells. This gene is one of three alpha-tubulin genes in a cluster on chromosome 12q. Mutations in this gene cause lissencephaly type 3 (LIS3) - a neurological condition characterized by microcephaly, intellectual disability, and early-onset epilepsy caused by defective neuronal migration. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2017]

Canonical amino-acid sequenceUniProt

451 residues, UniProt reviewed canonical sequence.

>Q71U36|TUBA1A
     1  MRECISIHVG QAGVQIGNAC WELYCLEHGI QPDGQMPSDK TIGGGDDSFN TFFSETGAGK
    61  HVPRAVFVDL EPTVIDEVRT GTYRQLFHPE QLITGKEDAA NNYARGHYTI GKEIIDLVLD
   121  RIRKLADQCT GLQGFLVFHS FGGGTGSGFT SLLMERLSVD YGKKSKLEFS IYPAPQVSTA
   181  VVEPYNSILT THTTLEHSDC AFMVDNEAIY DICRRNLDIE RPTYTNLNRL IGQIVSSITA
   241  SLRFDGALNV DLTEFQTNLV PYPRIHFPLA TYAPVISAEK AYHEQLSVAE ITNACFEPAN
   301  QMVKCDPRHG KYMACCLLYR GDVVPKDVNA AIATIKTKRT IQFVDWCPTG FKVGINYQPP
   361  TVVPGGDLAK VQRAVCMLSN TTAIAEAWAR LDHKFDLMYA KRAFVHWYVG EGMEEGEFSE
   421  AREDMAALEK DYEEVGVDSV EGEGEEEGEE Y

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against TUBA1A 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: 2,690 nTPM

Expression across tissuesHPA

Tissue

spinal cord: 2,690 nTPM
midbrain: 1,192 nTPM
hypothalamus: 1,012 nTPM
hippocampal formation: 852 nTPM
smooth muscle: 808 nTPM
cerebral cortex: 807 nTPM

Single-cell type

decidual stromal cells: 1,712 nCPM
respiratory ciliated cells: 1,523 nCPM
fallopian tube ciliated cells: 1,193 nCPM
schwann cells: 844 nCPM
mast cells: 745 nCPM
neutrophils: 743 nCPM

Immune cell

neutrophil: 1,668 nTPM
eosinophil: 827 nTPM
non-classical monocyte: 816 nTPM
intermediate monocyte: 555 nTPM
basophil: 506 nTPM
total PBMC: 495 nTPM

Brain region

white matter: 1,664 nTPM
medulla oblongata: 1,519 nTPM
cerebellum: 1,213 nTPM
spinal cord: 1,213 nTPM
pons: 1,200 nTPM
hypothalamus: 1,191 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about TUBA1A.

Disease | AllUniProt

Conditions TUBA1A is implicated in, by any mechanism.

Lissencephaly 3 (LIS3) MIM:611603

Disease | GeneticClinVar

200 pathogenic / likely-pathogenic of 440 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Tubulinopathy
Lissencephaly due to TUBA1A mutation
Inborn genetic diseases
TUBA1A-related disorder
Lissencephaly

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): 0.32
gnomAD pLI: 0.97
gnomAD missense Z: 5.58
DepMap mean gene effect: -0.24
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

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of TUBA1A 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 TUBA1A as an antibody target. Whether an autoantibody or antibody against TUBA1A could matter depends on whether native TUBA1A is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

TUBA1A 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 TUBA1A as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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