Seroatlas · Human Serome Atlas

TUBB4A

Tubulin beta-4A chain

Also known as: beta-5, DYT4, TBB4A_HUMAN, TUBB4

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

Protein identityUniProt · HPA

UniProt accession
P04350
Gene
TUBB4A
Ensembl
ENSG00000104833
Chromosome
19
Canonical length
444 aa
Protein class
Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins
Subcellular location
Microtubules,Cytokinetic bridge,Mitotic spindle,Primary cilium,Basal body,Flagellar centriole,Principal piece,End piece

OverviewNCBI Gene

This gene encodes a member of the beta tubulin family. Beta tubulins are one of two core protein families (alpha and beta tubulins) that heterodimerize and assemble to form microtubules. Mutations in this gene cause hypomyelinating leukodystrophy-6 and autosomal dominant torsion dystonia-4. Alternate splicing results in multiple transcript variants encoding different isoforms. A pseudogene of this gene is found on chromosome X. [provided by RefSeq, Jan 2014]

Canonical amino-acid sequenceUniProt

444 residues, UniProt reviewed canonical sequence.

>P04350|TUBB4A
     1  MREIVHLQAG QCGNQIGAKF WEVISDEHGI DPTGTYHGDS DLQLERINVY YNEATGGNYV
    61  PRAVLVDLEP GTMDSVRSGP FGQIFRPDNF VFGQSGAGNN WAKGHYTEGA ELVDAVLDVV
   121  RKEAESCDCL QGFQLTHSLG GGTGSGMGTL LISKIREEFP DRIMNTFSVV PSPKVSDTVV
   181  EPYNATLSVH QLVENTDETY CIDNEALYDI CFRTLKLTTP TYGDLNHLVS ATMSGVTTCL
   241  RFPGQLNADL RKLAVNMVPF PRLHFFMPGF APLTSRGSQQ YRALTVPELT QQMFDAKNMM
   301  AACDPRHGRY LTVAAVFRGR MSMKEVDEQM LSVQSKNSSY FVEWIPNNVK TAVCDIPPRG
   361  LKMAATFIGN STAIQELFKR ISEQFTAMFR RKAFLHWYTG EGMDEMEFTE AESNMNDLVS
   421  EYQQYQDATA EEGEFEEEAE EEVA

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against TUBB4A 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
1,156 nTPM

Expression across tissuesHPA

Tissue

  • cerebellum: 1,156 nTPM
  • spinal cord: 806 nTPM
  • hippocampal formation: 537 nTPM
  • cerebral cortex: 513 nTPM
  • midbrain: 507 nTPM
  • basal ganglia: 443 nTPM

Single-cell type

  • oligodendrocytes: 184 nCPM
  • brain excitatory neurons: 96 nCPM
  • retinal pigment epithelial cells: 85 nCPM
  • other brain neurons: 45 nCPM
  • adrenal cortex cells: 39 nCPM
  • brain inhibitory neurons: 37 nCPM

Immune cell

  • gdT-cell: 5.4 nTPM
  • memory CD8 T-cell: 5 nTPM
  • memory B-cell: 3.8 nTPM
  • naive CD8 T-cell: 3.8 nTPM
  • MAIT T-cell: 3.2 nTPM
  • naive CD4 T-cell: 1.6 nTPM

Brain region

  • white matter: 1,888 nTPM
  • cerebellum: 1,171 nTPM
  • pons: 1,150 nTPM
  • basal ganglia: 1,056 nTPM
  • cerebral cortex: 1,050 nTPM
  • thalamus: 1,011 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about TUBB4A.

Disease | AllUniProt

Conditions TUBB4A is implicated in, by any mechanism.

  • Dystonia 4, torsion, autosomal dominant (DYT4) MIM:128101
  • Leukodystrophy, hypomyelinating, 6 (HLD6) MIM:612438

Disease | GeneticClinVar

47 pathogenic / likely-pathogenic of 375 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Disease | ImmuneIEDB

Conditions an epitope on TUBB4A was assayed in.

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)
0.67
gnomAD pLI
0.11
gnomAD missense Z
4.26
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

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of TUBB4A 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 TUBB4A as an antibody target. Whether an autoantibody or antibody against TUBB4A could matter depends on whether native TUBB4A is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

TUBB4A 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 TUBB4A as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/TUBB4A. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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