TUBB
Tubulin beta chain
Also known as: M40, MGC16435, OK/SW-cl.56, TBB5_HUMAN, Tubb5
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P07437
- Gene
- TUBB
- Ensembl
- ENSG00000196230
- Chromosome
- 6
- Canonical length
- 444 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 beta tubulin protein. This protein forms a dimer with alpha tubulin and acts as a structural component of microtubules. Mutations in this gene cause cortical dysplasia, complex, with other brain malformations 6. Alternative splicing results in multiple splice variants. There are multiple pseudogenes for this gene on chromosomes 1, 6, 7, 8, 9, and 13. [provided by RefSeq, Jun 2014]
Canonical amino-acid sequenceUniProt
444 residues, UniProt reviewed canonical sequence.
>P07437|TUBB
1 MREIVHIQAG QCGNQIGAKF WEVISDEHGI DPTGTYHGDS DLQLDRISVY YNEATGGKYV
61 PRAILVDLEP GTMDSVRSGP FGQIFRPDNF VFGQSGAGNN WAKGHYTEGA ELVDSVLDVV
121 RKEAESCDCL QGFQLTHSLG GGTGSGMGTL LISKIREEYP DRIMNTFSVV PSPKVSDTVV
181 EPYNATLSVH QLVENTDETY CIDNEALYDI CFRTLKLTTP TYGDLNHLVS ATMSGVTTCL
241 RFPGQLNADL RKLAVNMVPF PRLHFFMPGF APLTSRGSQQ YRALTVPELT QQVFDAKNMM
301 AACDPRHGRY LTVAAVFRGR MSMKEVDEQM LNVQNKNSSY FVEWIPNNVK TAVCDIPPRG
361 LKMAVTFIGN STAIQELFKR ISEQFTAMFR RKAFLHWYTG EGMDEMEFTE AESNMNDLVS
421 EYQQYQDATA EEEEDFGEEA EEEALocalizationUniProt · AlphaFold · HPA
Whether an antibody against TUBB 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
- 578 nTPM
Expression across tissuesHPA
Tissue
- thymus: 578 nTPM
- bone marrow: 510 nTPM
- tonsil: 457 nTPM
- ovary: 439 nTPM
- endometrium: 347 nTPM
- smooth muscle: 346 nTPM
Single-cell type
- other brain neurons: 171 nCPM
- brain excitatory neurons: 62 nCPM
- brain inhibitory neurons: 52 nCPM
- microglia: 43 nCPM
- renal collecting duct principal cells: 43 nCPM
- oligodendrocyte progenitor cells: 34 nCPM
Immune cell
- total PBMC: 342 nTPM
- plasmacytoid DC: 228 nTPM
- non-classical monocyte: 223 nTPM
- MAIT T-cell: 219 nTPM
- memory CD8 T-cell: 189 nTPM
- gdT-cell: 188 nTPM
Brain region
- hypothalamus: 278 nTPM
- pons: 235 nTPM
- choroid plexus: 208 nTPM
- medulla oblongata: 194 nTPM
- basal ganglia: 191 nTPM
- midbrain: 183 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about TUBB.
Disease | AllUniProt
Conditions TUBB is implicated in, by any mechanism.
- Cortical dysplasia, complex, with other brain malformations 6 (CDCBM6) MIM:615771
- Skin creases, congenital symmetric circumferential, 1 (CSCSC1) MIM:156610
Disease | GeneticClinVar
38 pathogenic / likely-pathogenic of 128 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Complex cortical dysplasia with other brain malformations 6
- Multiple benign circumferential skin creases on limbs 1
- Inborn genetic diseases
- TUBB-related disorder
- Ventriculomegaly
Disease | ImmuneIEDB
Conditions an epitope on TUBB was assayed in.
- multiple sclerosis B cell
- Chagas disease 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)
- 0.29
- gnomAD pLI
- 0.98
- gnomAD missense Z
- 5.63
- DepMap mean gene effect
- -1.67
- DepMap dependency class
- common
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 8% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- cell division
- cytoskeleton-dependent intracellular transport
- microtubule cytoskeleton organization
- microtubule-based process
- mitotic cell cycle
- natural killer cell mediated cytotoxicity
- odontoblast differentiation
- regulation of synapse organization
- spindle assembly
Molecular functions
- GTP binding
- GTPase activating protein binding
- GTPase activity
- metal ion binding
- MHC class I protein binding
- protein domain specific binding
- protein-containing complex binding
- structural constituent of cytoskeleton
- structural molecule activity
- ubiquitin protein ligase binding
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 TUBB 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 TUBB as an antibody target. Whether an autoantibody or antibody against TUBB could matter depends on whether native TUBB is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
TUBB 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 TUBB as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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