TUBB3
Tubulin beta-3 chain
Also known as: beta-4, CFEOM3, CFEOM3A, FEOM3, TBB3_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q13509
- Gene
- TUBB3
- Ensembl
- ENSG00000258947
- Chromosome
- 16
- Canonical length
- 450 aa
- Protein class
- Disease related genes, FDA approved drug targets, 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 class III member of the beta tubulin protein family. Beta tubulins are one of two core protein families (alpha and beta tubulins) that heterodimerize and assemble to form microtubules. This protein is primarily expressed in neurons and may be involved in neurogenesis and axon guidance and maintenance. Mutations in this gene are the cause of congenital fibrosis of the extraocular muscles type 3. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 6. [provided by RefSeq, Oct 2010]
Canonical amino-acid sequenceUniProt
450 residues, UniProt reviewed canonical sequence.
>Q13509|TUBB3
1 MREIVHIQAG QCGNQIGAKF WEVISDEHGI DPSGNYVGDS DLQLERISVY YNEASSHKYV
61 PRAILVDLEP GTMDSVRSGA FGHLFRPDNF IFGQSGAGNN WAKGHYTEGA ELVDSVLDVV
121 RKECENCDCL QGFQLTHSLG GGTGSGMGTL LISKVREEYP DRIMNTFSVV PSPKVSDTVV
181 EPYNATLSIH QLVENTDETY CIDNEALYDI CFRTLKLATP TYGDLNHLVS ATMSGVTTSL
241 RFPGQLNADL RKLAVNMVPF PRLHFFMPGF APLTARGSQQ YRALTVPELT QQMFDAKNMM
301 AACDPRHGRY LTVATVFRGR MSMKEVDEQM LAIQSKNSSY FVEWIPNNVK VAVCDIPPRG
361 LKMSSTFIGN STAIQELFKR ISEQFTAMFR RKAFLHWYTG EGMDEMEFTE AESNMNDLVS
421 EYQQYQDATA EEEGEMYEDD EEESEAQGPKLocalizationUniProt · AlphaFold · HPA
Whether an antibody against TUBB3 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
- 344 nTPM
Expression across tissuesHPA
Tissue
- hypothalamus: 344 nTPM
- midbrain: 215 nTPM
- cerebral cortex: 210 nTPM
- cerebellum: 128 nTPM
- hippocampal formation: 126 nTPM
- amygdala: 124 nTPM
Single-cell type
- other brain neurons: 291 nCPM
- brain inhibitory neurons: 89 nCPM
- brain excitatory neurons: 88 nCPM
- astrocytes: 19 nCPM
- oligodendrocyte progenitor cells: 19 nCPM
- ependymal cells: 12 nCPM
Immune cell
- naive B-cell: 2.5 nTPM
- memory B-cell: 0.3 nTPM
- plasmacytoid DC: 0.2 nTPM
- non-classical monocyte: 0.1 nTPM
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
Brain region
- hypothalamus: 691 nTPM
- pons: 594 nTPM
- medulla oblongata: 462 nTPM
- thalamus: 408 nTPM
- midbrain: 303 nTPM
- cerebral cortex: 282 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about TUBB3.
Disease | AllUniProt
Conditions TUBB3 is implicated in, by any mechanism.
- Fibrosis of extraocular muscles, congenital, 3A (CFEOM3A) MIM:600638
- Cortical dysplasia, complex, with other brain malformations 1 (CDCBM1) MIM:614039
Disease | GeneticClinVar
54 pathogenic / likely-pathogenic of 384 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Complex cortical dysplasia with other brain malformations 1
- Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement
- TUBB3-related disorder
- Inborn genetic diseases
- TUBB3-related tubulinopathy
Disease | ImmuneIEDB
Conditions an epitope on TUBB3 was assayed in.
- multiple sclerosis B cell
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
- 4.58
- DepMap mean gene effect
- -0.06
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- axon guidance
- dorsal root ganglion development
- microtubule cytoskeleton organization
- mitotic cell cycle
Molecular functions
- GTP binding
- GTPase activity
- metal ion binding
- netrin receptor binding
- peptide binding
- structural constituent of cytoskeleton
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Tubulin
- Beta tubulin
- Tubulin/FtsZ, GTPase domain
- Tubulin/FtsZ, C-terminal
- Beta tubulin, autoregulation binding site
- Tubulin, conserved site
- Tubulin/FtsZ, 2-layer sandwich domain
- Tubulin, C-terminal
- Tubulin/FtsZ, GTPase domain superfamily
- Tubulin/FtsZ-like, C-terminal domain
- Tubulin/FtsZ family, GTPase domain
- Tubulin C-terminal domain
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of TUBB3 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 TUBB3 as an antibody target. Whether an autoantibody or antibody against TUBB3 could matter depends on whether native TUBB3 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
TUBB3 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 TUBB3 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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