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Aliases for TUBB Gene

Aliases for TUBB Gene

  • Tubulin Beta Class I 2 3 5
  • Tubulin, Beta Polypeptide 2 3
  • Tubulin Beta-5 Chain 3 4
  • TUBB5 3 4
  • Tubulin, Beta Class I 2
  • Class I Beta-Tubulin 2
  • Tubulin Beta-1 Chain 3
  • Tubulin Beta Chain 3
  • Beta Ib Tubulin 3
  • Beta1-Tubulin 2
  • Tubulin, Beta 2
  • OK/SW-Cl.56 3
  • CDCBM6 3
  • CSCSC1 3
  • TUBB1 3
  • M40 3

External Ids for TUBB Gene

Previous GeneCards Identifiers for TUBB Gene

  • GC06M003138
  • GC06M003098
  • GC06P030797
  • GC06Pc30826
  • GC06P030687
  • GC06P030489

Summaries for TUBB Gene

Entrez Gene Summary for TUBB 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]

GeneCards Summary for TUBB Gene

TUBB (Tubulin Beta Class I) is a Protein Coding gene. Diseases associated with TUBB include Cortical Dysplasia, Complex, With Other Brain Malformations 6 and Skin Creases, Congenital Symmetric Circumferential, 1. Among its related pathways are Development Slit-Robo signaling and Cytoskeleton remodeling Neurofilaments. GO annotations related to this gene include GTP binding and structural molecule activity. An important paralog of this gene is TUBB4B.

UniProtKB/Swiss-Prot for TUBB Gene

  • Tubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site on the beta chain and one at a non-exchangeable site on the alpha chain.

Tocris Summary for TUBB Gene

  • Microtubules are cylindrical tubes of 20-25 nm in diameter. They are composed of protofilaments which are in turn composed of alpha- and beta-tubulin polymers. Each microtubule is polarized; at one end alpha-subunits are exposed (-) and at the other, beta-subunits are exposed (+).

Gene Wiki entry for TUBB Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TUBB Gene

Genomics for TUBB Gene

Regulatory Elements for TUBB Gene

Enhancers for TUBB Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around TUBB on UCSC Golden Path with GeneCards custom track

Promoters for TUBB Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

Genomic Location for TUBB Gene

Chromosome:
6
Start:
30,720,201 bp from pter
End:
30,725,426 bp from pter
Size:
5,226 bases
Orientation:
Plus strand

Genomic View for TUBB Gene

Genes around TUBB on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TUBB Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TUBB Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

Proteins for TUBB Gene

  • Protein details for TUBB Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P07437-TBB5_HUMAN
    Recommended name:
    Tubulin beta chain
    Protein Accession:
    P07437
    Secondary Accessions:
    • P05218
    • Q8WUC1
    • Q9CY33

    Protein attributes for TUBB Gene

    Size:
    444 amino acids
    Molecular mass:
    49671 Da
    Quaternary structure:
    • Heterodimer of alpha and beta chains (PubMed:26637975). A typical microtubule is a hollow water-filled tube with an outer diameter of 25 nm and an inner diameter of 15 nM. Alpha-beta heterodimers associate head-to-tail to form protofilaments running lengthwise along the microtubule wall with the beta-tubulin subunit facing the microtubule plus end conferring a structural polarity. Microtubules usually have 13 protofilaments but different protofilament numbers can be found in some organisms and specialized cells. Interacts with PIFO (PubMed:20643351). Interacts with DIAPH1 (PubMed:23325789). Interacts with MX1 (By similarity). May interact with RNABP10 (By similarity).

    Three dimensional structures from OCA and Proteopedia for TUBB Gene

neXtProt entry for TUBB Gene

Post-translational modifications for TUBB Gene

  • Some glutamate residues at the C-terminus are monoglycylated but not polyglycylated due to the absence of functional TTLL10 in human. Monoglycylation is mainly limited to tubulin incorporated into axonemes (cilia and flagella). Both polyglutamylation and monoglycylation can coexist on the same protein on adjacent residues, and lowering glycylation levels increases polyglutamylation, and reciprocally. The precise function of monoglycylation is still unclear (Probable).
  • Some glutamate residues at the C-terminus are polyglutamylated, resulting in polyglutamate chains on the gamma-carboxyl group (PubMed:26875866). Polyglutamylation plays a key role in microtubule severing by spastin (SPAST). SPAST preferentially recognizes and acts on microtubules decorated with short polyglutamate tails: severing activity by SPAST increases as the number of glutamates per tubulin rises from one to eight, but decreases beyond this glutamylation threshold (PubMed:26875866).
  • Ubiquitination at Lys 297, Lys 324, Lys 362, and Lys 379
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for TUBB Gene

Domains & Families for TUBB Gene

Gene Families for TUBB Gene

Graphical View of Domain Structure for InterPro Entry

P07437

UniProtKB/Swiss-Prot:

TBB5_HUMAN :
  • The highly acidic C-terminal region may bind cations such as calcium.
  • Belongs to the tubulin family.
Domain:
  • The highly acidic C-terminal region may bind cations such as calcium.
Family:
  • Belongs to the tubulin family.
genes like me logo Genes that share domains with TUBB: view

Function for TUBB Gene

Molecular function for TUBB Gene

GENATLAS Biochemistry:
tubulin,beta polypeptide
UniProtKB/Swiss-Prot Function:
Tubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site on the beta chain and one at a non-exchangeable site on the alpha chain.

Gene Ontology (GO) - Molecular Function for TUBB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003924 GTPase activity IEA --
GO:0005198 structural molecule activity TAS 12090300
GO:0005200 structural constituent of cytoskeleton IEA --
GO:0005515 protein binding IEA,IPI 18457437
GO:0005525 GTP binding IEA --
genes like me logo Genes that share ontologies with TUBB: view
genes like me logo Genes that share phenotypes with TUBB: view

Human Phenotype Ontology for TUBB Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for TUBB Gene

Localization for TUBB Gene

Subcellular locations from UniProtKB/Swiss-Prot for TUBB Gene

Cytoplasm, cytoskeleton.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TUBB Gene COMPARTMENTS Subcellular localization image for TUBB gene
Compartment Confidence
cytosol 3
cytoskeleton 2
nucleus 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for TUBB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005634 nucleus IEA,IDA 21630459
GO:0005641 nuclear envelope lumen IDA 19567321
GO:0005856 cytoskeleton TAS 16130169
GO:0005874 microtubule IEA,TAS 12090300
genes like me logo Genes that share ontologies with TUBB: view

Pathways & Interactions for TUBB Gene

genes like me logo Genes that share pathways with TUBB: view

SIGNOR curated interactions for TUBB Gene

Inactivates:
Is activated by:

Gene Ontology (GO) - Biological Process for TUBB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000086 G2/M transition of mitotic cell cycle TAS --
GO:0006928 movement of cell or subcellular component TAS 16130169
GO:0007017 microtubule-based process IEA,TAS 12090300
GO:0009987 cellular process IDA 19567321
GO:0030705 cytoskeleton-dependent intracellular transport TAS 12090300
genes like me logo Genes that share ontologies with TUBB: view

Drugs & Compounds for TUBB Gene

(71) Drugs for TUBB Gene - From: DrugBank, ApexBio, DGIdb, FDA Approved Drugs, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Colchicine Approved Pharma Antagonist, binder, Target, inhibitor Tubulin Inhibitor, Inhibitor of tubulin 106
Docetaxel Approved May 1996, Investigational Pharma Inhibition, inhibitor, Biomarker Microtubulin disassembly inhibitor, Tubulin and VEGF inhibitor, Taxanes, Microtubule stabilizer 1880
Vinblastine Approved Pharma inhibitor, Target, adduct 398
Vincristine Approved, Investigational Pharma binder, Target, inhibitor Microtubule disrupter,antitumor agent 888
Vinorelbine Approved, Investigational Pharma Target, inhibitor 358

(55) Additional Compounds for TUBB Gene - From: Novoseek and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Dolastatin 10 trifluoroacetate
MMAE
474645-27-7

(5) Tocris Compounds for TUBB Gene

Compound Action Cas Number
Colchicine Inhibitor of tubulin 64-86-8
Docetaxel Microtubule stabilizer 114977-28-5
Dolastatin 10 trifluoroacetate Tubulin polymerization inhibitor
MMAE Potent dolastatin 10 analog; antitumor 474645-27-7
Vinblastine sulfate Disrupts microtubules 143-67-9

(9) ApexBio Compounds for TUBB Gene

Compound Action Cas Number
Albendazole Oxide 54029-12-8
Combretastatin A4 117048-59-6
Docetaxel Microtubulin disassembly inhibitor 114977-28-5
Epothilone A Microtubule stabilizing macrolide 152044-53-6
Epothilone B (EPO906, Patupilone) Microtubule stabilizing macrolide 152044-54-7
MPC 6827 hydrochloride Potent microtubule inhibitor 917369-31-4
Plinabulin (NPI-2358) Tumor cell lines inhibitor 714272-27-2
Vc-MMAD Potent tubulin inhibitor 1401963-17-4
Vinflunine Tartrate 1201898-17-0
genes like me logo Genes that share compounds with TUBB: view

Transcripts for TUBB Gene

Unigene Clusters for TUBB Gene

Tubulin, beta class I:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for TUBB Gene

No ASD Table

Relevant External Links for TUBB Gene

GeneLoc Exon Structure for
TUBB
ECgene alternative splicing isoforms for
TUBB

Expression for TUBB Gene

mRNA expression in normal human tissues for TUBB Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for TUBB Gene

This gene is overexpressed in Bone (22.2) and Bone marrow stromal cell (7.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for TUBB Gene



Protein tissue co-expression partners for TUBB Gene

NURSA nuclear receptor signaling pathways regulating expression of TUBB Gene:

TUBB

SOURCE GeneReport for Unigene cluster for TUBB Gene:

Hs.636480

mRNA Expression by UniProt/SwissProt for TUBB Gene:

P07437-TBB5_HUMAN
Tissue specificity: Ubiquitously expressed with highest levels in spleen, thymus and immature brain.
genes like me logo Genes that share expression patterns with TUBB: view

Primer Products

No data available for mRNA differential expression in normal tissues for TUBB Gene

Orthologs for TUBB Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for TUBB Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia TUBB 34
  • 92.27 (n)
  • 100 (a)
TUBB5 35
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TUBB 34
  • 92.27 (n)
  • 100 (a)
TUBB 35
  • 100 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tubb5 34
  • 91.44 (n)
  • 100 (a)
Tubb5 16
Tubb5 35
  • 100 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia TUBB 34
  • 99.85 (n)
  • 100 (a)
TUBB 35
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tubb5 34
  • 90.69 (n)
  • 100 (a)
oppossum
(Monodelphis domestica)
Mammalia TUBB 35
  • 100 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TUBB 35
  • 92 (a)
OneToOne
chicken
(Gallus gallus)
Aves TUBB 34
  • 85.36 (n)
  • 100 (a)
TUBB 35
  • 100 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TUBB 35
  • 97 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tubb 34
  • 83.33 (n)
  • 99.77 (a)
zebrafish
(Danio rerio)
Actinopterygii tubb5 34
  • 83.26 (n)
  • 98.65 (a)
tubb5 35
  • 99 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta bgrTub56D 36
  • 97 (a)
bgrTub60D 36
  • 88 (a)
bgrTub85D 36
  • 96 (a)
CG4869 36
  • 86 (a)
betaTub56D 35
  • 89 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea ben-1 36
  • 90 (a)
mec-7 36
  • 94 (a)
tbb-1 36
  • 88 (a)
tbb-2 36
  • 90 (a)
tbb-4 36
  • 93 (a)
ben-1 34
  • 75.06 (n)
  • 92.54 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TUB2 37
thale cress
(Arabidopsis thaliana)
eudicotyledons TUB6 34
  • 73.58 (n)
  • 86.48 (a)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.6402 34
barley
(Hordeum vulgare)
Liliopsida Hv.735 34
rice
(Oryza sativa)
Liliopsida Os01g0805900 34
  • 76.85 (n)
  • 86.95 (a)
wheat
(Triticum aestivum)
Liliopsida Ta.1544 34
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4227 35
  • 96 (a)
ManyToMany
CSA.7878 35
  • 96 (a)
ManyToMany
Species where no ortholog for TUBB was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for TUBB Gene

ENSEMBL:
Gene Tree for TUBB (if available)
TreeFam:
Gene Tree for TUBB (if available)

Paralogs for TUBB Gene

Paralogs for TUBB Gene

genes like me logo Genes that share paralogs with TUBB: view

Variants for TUBB Gene

Sequence variations from dbSNP and Humsavar for TUBB Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs587777355 Cortical dysplasia, complex, with other brain malformations 6 (CDCBM6) 30,723,957(+) AGAAC(A/G)TGATG intron-variant, nc-transcript-variant, reference, missense
rs587777356 Cortical dysplasia, complex, with other brain malformations 6 (CDCBM6) 30,724,119(+) CAGCC(A/G)TCTGT nc-transcript-variant, reference, missense
rs587777357 Cortical dysplasia, complex, with other brain malformations 6 (CDCBM6) 30,724,263(+) CAGGC(A/G)AGGGC nc-transcript-variant, reference, missense
rs1059145 -- 30,723,709(+) TCTGA(A/G)GCTGA intron-variant, reference, missense
rs1061142 -- 30,724,442(+) GCCGT(A/C/G/T)TTACT nc-transcript-variant, utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for TUBB Gene

Variant ID Type Subtype PubMed ID
esv2670269 CNV deletion 23128226
esv2731791 CNV deletion 23290073
esv2759413 CNV loss 17122850
esv3411275 CNV duplication 20981092
nsv1074389 CNV deletion 25765185
nsv1122126 CNV deletion 24896259
nsv1144137 CNV deletion 24896259
nsv601264 CNV loss 21841781
nsv601481 CNV loss 21841781
nsv830626 CNV loss 17160897
nsv970104 CNV duplication 23825009

Variation tolerance for TUBB Gene

Residual Variation Intolerance Score: 26.7% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TUBB Gene

Human Gene Mutation Database (HGMD)
TUBB
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TUBB

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TUBB Gene

Disorders for TUBB Gene

MalaCards: The human disease database

(10) MalaCards diseases for TUBB Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search TUBB in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

TBB5_HUMAN
  • Cortical dysplasia, complex, with other brain malformations 6 (CDCBM6) [MIM:615771]: A disorder of aberrant neuronal migration and disturbed axonal guidance. Affected individuals have microcephaly, ataxia, and severe delayed psychomotor development. Brain imaging shows variable malformations of cortical development, including white matter streaks, dysmorphic basal ganglia, corpus callosum abnormalities, brainstem and cerebellar hypoplasia, cortical dysplasia, polymicrogyria. {ECO:0000269 PubMed:23246003}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Skin creases, congenital symmetric circumferential, 1 (CSCSC1) [MIM:156610]: An autosomal dominant disease characterized by multiple, symmetric, circumferential rings of folded skin, affecting primarily the limbs. Affected individuals also exhibit intellectual disability, cleft palate, and dysmorphic features. {ECO:0000269 PubMed:26637975}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for TUBB

Genetic Association Database (GAD)
TUBB
Human Genome Epidemiology (HuGE) Navigator
TUBB
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TUBB
genes like me logo Genes that share disorders with TUBB: view

No data available for Genatlas for TUBB Gene

Publications for TUBB Gene

  1. Tubulins in the primate retina: evidence that xanthophylls may be endogenous ligands for the paclitaxel-binding site. (PMID: 11504633) Crabtree D.V. … Adler A.J. (Bioorg. Med. Chem. 2001) 2 3 4 22 65
  2. Mutations in the I^-tubulin gene TUBB5 cause microcephaly with structural brain abnormalities. (PMID: 23246003) Breuss M. … Keays D.A. (Cell Rep 2012) 3 4 65
  3. Tumoral and tissue-specific expression of the major human beta- tubulin isotypes. (PMID: 20191564) Leandro-Garcia L.J. … Rodriguez-Antona C. (Cytoskeleton 2010) 3 4 65
  4. An approach based on a genome-wide association study reveals candidate loci for narcolepsy. (PMID: 20677014) Shimada M. … Tokunaga K. (Hum. Genet. 2010) 3 46 65
  5. Leucine-rich repeat kinase 2 phosphorylates brain tubulin-beta isoforms and modulates microtubule stability--a point of convergence in parkinsonian neurodegeneration? (PMID: 19545277) Gillardon F. (J. Neurochem. 2009) 3 22 65

Products for TUBB Gene

Sources for TUBB Gene

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