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TUBB1 Gene(Protein Coding)

Tubulin Beta 1 Class VI

GCID:
GC20P059020
GIFtS:
68
Genes Participants
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Aliases for TUBB1 Gene

Aliases for TUBB1 Gene

  • Tubulin Beta 1 Class VI 2 3 5
  • Class VI Beta-Tubulin 2
  • Tubulin, Beta 1 2

External Ids for TUBB1 Gene

Previous GeneCards Identifiers for TUBB1 Gene

  • GC20P057322
  • GC20P058232
  • GC20P058279
  • GC20P057027
  • GC20P057594
  • GC20P054381

Summaries for TUBB1 Gene

Entrez Gene Summary for TUBB1 Gene

  • This gene encodes a 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 specifically expressed in platelets and megakaryocytes and may be involved in proplatelet production and platelet release. A mutations in this gene is associated with autosomal dominant macrothrombocytopenia. Two pseudogenes of this gene are found on chromosome Y.[provided by RefSeq, Jul 2010]

GeneCards Summary for TUBB1 Gene

TUBB1 (Tubulin Beta 1 Class VI) is a Protein Coding gene. Diseases associated with TUBB1 include Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related and Autosomal Dominant Macrothrombocytopenia. Among its related pathways are Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding and Regulation of CFTR activity (norm and CF). GO annotations related to this gene include GTP binding and structural constituent of cytoskeleton. An important paralog of this gene is TUBB2B.

UniProtKB/Swiss-Prot for TUBB1 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 (By similarity).

Tocris Summary for TUBB1 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 TUBB1 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TUBB1 Gene

Genomics for TUBB1 Gene

Products:

  1. Regulatory Element

Regulatory Elements for TUBB1 Gene

Enhancers for TUBB1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around TUBB1 on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the TUBB1 gene promoter:

Genomic Location for TUBB1 Gene

Chromosome:
20
Start:
59,019,254 bp from pter
End:
59,026,654 bp from pter
Size:
7,401 bases
Orientation:
Plus strand

Genomic View for TUBB1 Gene

Genes around TUBB1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TUBB1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TUBB1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for TUBB1 Gene

Proteins for TUBB1 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for TUBB1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H4B7-TBB1_HUMAN
    Recommended name:
    Tubulin beta-1 chain
    Protein Accession:
    Q9H4B7

    Protein attributes for TUBB1 Gene

    Size:
    451 amino acids
    Molecular mass:
    50327 Da
    Quaternary structure:
    • Dimer of alpha and beta chains. 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 RANBP10.

neXtProt entry for TUBB1 Gene

Proteomics data for TUBB1 Gene at MOPED

Protein Expression for TUBB1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for TUBB1 Gene

  • Some glutamate residues at the C-terminus are polyglutamylated. This modification occurs exclusively on glutamate residues and results in polyglutamate chains on the gamma-carboxyl group. Also 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) whereas glutamylation is prevalent in neuronal cells, centrioles, axonemes, and the mitotic spindle. Both modifications can coexist on the same protein on adjacent residues, and lowering glycylation levels increases polyglutamylation, and reciprocally. The precise function of such modifications is still unclear but they regulate the assembly and dynamics of axonemal microtubules (Probable).
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TUBB1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • R&D Systems Antibodies for TUBB1 (beta-I Tubulin)
  • Cloud-Clone Corp. Antibodies for TUBB1

No data available for DME Specific Peptides for TUBB1 Gene

Domains & Families for TUBB1 Gene

Gene Families for TUBB1 Gene

HGNC:

Protein Domains for TUBB1 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for TUBB1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9H4B7

UniProtKB/Swiss-Prot:

TBB1_HUMAN :
  • Belongs to the tubulin family.
Family:
  • Belongs to the tubulin family.
genes like me logo Genes that share domains with TUBB1: view

Function for TUBB1 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line
  7. Flow Cytometry

Molecular function for TUBB1 Gene

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 (By similarity).

Gene Ontology (GO) - Molecular Function for TUBB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005525 GTP binding IEA --
genes like me logo Genes that share ontologies with TUBB1: view

Phenotypes for TUBB1 Gene

MGI mutant phenotypes for TUBB1:
inferred from 1 alleles
GenomeRNAi human phenotypes for TUBB1:
genes like me logo Genes that share phenotypes with TUBB1: view

Human Phenotype Ontology for TUBB1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TUBB1 Gene

MGI Knock Outs for TUBB1:

Animal Model Products

miRNA for TUBB1 Gene

miRTarBase miRNAs that target TUBB1

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for TUBB1 Gene

Localization for TUBB1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TUBB1 Gene

Cytoplasm, cytoskeleton.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TUBB1 Gene COMPARTMENTS Subcellular localization image for TUBB1 gene
Compartment Confidence
extracellular 5
cytoskeleton 4
cytosol 3
nucleus 2

Gene Ontology (GO) - Cellular Components for TUBB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 18849486
genes like me logo Genes that share ontologies with TUBB1: view

Pathways & Interactions for TUBB1 Gene

genes like me logo Genes that share pathways with TUBB1: view

Gene Ontology (GO) - Biological Process for TUBB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006457 protein folding TAS --
GO:0007017 microtubule-based process IEA --
GO:0044267 cellular protein metabolic process TAS --
GO:0051084 de novo posttranslational protein folding TAS --
genes like me logo Genes that share ontologies with TUBB1: view

No data available for SIGNOR curated interactions for TUBB1 Gene

Drugs & Compounds for TUBB1 Gene

Products:

  1. Drug

(30) Drugs for TUBB1 Gene - From: DrugBank, PharmGKB, DGIdb, FDA Approved Drugs, HMDB, and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Docetaxel Approved May 1996, Investigational Pharma Inhibition, inhibitor, Biomarker, Target Microtubulin disassembly inhibitor, Tubulin and VEGF inhibitor, Taxanes 1859
Colchicine Approved Pharma Antagonist, Target, inhibitor Tubulin Inhibitor, Inhibitor of tubulin 105
Cabazitaxel Approved Pharma inhibitor, Target, binder 0
Paclitaxel Approved Pharma inhibitor, Biomarker, binder, Target Tubulin and Bcl2 inhibitor, Taxanes 2655
Vindesine Approved Pharma binder, Target, inhibitor 39

(2) Additional Compounds for TUBB1 Gene - From: Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Vinblastine sulfate
143-67-9
Vincristine sulfate
2068-78-2

(5) Tocris Compounds for TUBB1 Gene

Compound Action Cas Number
Colchicine Inhibitor of tubulin 64-86-8
Nocodazole Microtubule inhibitor 31430-18-9
Taxol Promotes assembly and inhibits disassembly of microtubules 33069-62-4
Vinblastine sulfate Disrupts microtubules 143-67-9
Vincristine sulfate Disrupts microtubules 2068-78-2
genes like me logo Genes that share compounds with TUBB1: view

Transcripts for TUBB1 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

mRNA/cDNA for TUBB1 Gene

(1) REFSEQ mRNAs :
(2) Additional mRNA sequences :
(40) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for TUBB1 Gene

Tubulin, beta 1 class VI:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for TUBB1 Gene

No ASD Table

Relevant External Links for TUBB1 Gene

GeneLoc Exon Structure for
TUBB1
ECgene alternative splicing isoforms for
TUBB1

Expression for TUBB1 Gene

Products:

  1. Primer

mRNA expression in normal human tissues for TUBB1 Gene

mRNA expression in normal human tissues for TUBB1 Gene
mRNA expression by BioGPS for TUBB1 GenemRNA expression by GTEx for TUBB1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TUBB1 Gene

This gene is overexpressed in Whole Blood (x38.4).

Protein differential expression in normal tissues from HIPED for TUBB1 Gene

This gene is overexpressed in Platelet (43.1) and Peripheral blood mononuclear cells (16.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for TUBB1 Gene



SOURCE GeneReport for Unigene cluster for TUBB1 Gene Hs.303023

mRNA Expression by UniProt/SwissProt for TUBB1 Gene

Q9H4B7-TBB1_HUMAN
Tissue specificity: Hematopoietic cell-specific. Major isotype in leukocytes, where it represents 50% of all beta-tubulins.
genes like me logo Genes that share expression patterns with TUBB1: view

Primer Products

No data available for Protein tissue co-expression partners for TUBB1 Gene

Orthologs for TUBB1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for TUBB1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
 Mammalia TUBB1 35
  • 84.42 (n)
  • 90.23 (a)
TUBB1 36
  • 89 (a)
 OneToOne
dog
(Canis familiaris)
 Mammalia TUBB1 35
  • 81.4 (n)
  • 82.37 (a)
TUBB1 36
  • 62 (a)
 OneToOne
mouse
(Mus musculus)
 Mammalia Tubb1 35
  • 85.37 (n)
  • 91.8 (a)
Tubb1 16
Tubb1 36
  • 92 (a)
 OneToOne
chimpanzee
(Pan troglodytes)
 Mammalia TUBB1 35
  • 99.56 (n)
  • 99.56 (a)
TUBB1 36
  • 100 (a)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Tubb1 35
  • 85.34 (n)
  • 92.59 (a)
oppossum
(Monodelphis domestica)
 Mammalia TUBB1 36
  • 90 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia TUBB1 36
  • 88 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves TUBB1 35
  • 76.28 (n)
  • 85.58 (a)
TUBB1 36
  • 84 (a)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia TUBB1 36
  • 80 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia LOC100498230 35
  • 76.77 (n)
  • 81.61 (a)
zebrafish
(Danio rerio)
 Actinopterygii tubb1 35
  • 71.78 (n)
  • 80.47 (a)
tubb1 36
  • 75 (a)
 OneToOne
fruit fly
(Drosophila melanogaster)
 Insecta bgrTub56D 37
  • 87 (a)
bgrTub60D 37
  • 77 (a)
bgrTub85D 37
  • 79 (a)
CG4869 37
  • 77 (a)
betaTub85D 36
  • 78 (a)
 OneToMany
worm
(Caenorhabditis elegans)
 Secernentea ben-1 37
  • 77 (a)
mec-7 37
  • 78 (a)
tbb-1 37
  • 76 (a)
tbb-2 37
  • 78 (a)
tbb-4 37
  • 77 (a)
mec-7 36
  • 77 (a)
 ManyToMany
tbb-4 36
  • 78 (a)
 ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes TUB2 36
  • 66 (a)
 OneToMany
Species with no ortholog for TUBB1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • 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 (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for TUBB1 Gene

ENSEMBL:
Gene Tree for TUBB1 (if available)
TreeFam:
Gene Tree for TUBB1 (if available)

Paralogs for TUBB1 Gene

Paralogs for TUBB1 Gene

(26) SIMAP similar genes for TUBB1 Gene using alignment to 1 proteins:

Pseudogenes.org Pseudogenes for TUBB1 Gene

genes like me logo Genes that share paralogs with TUBB1: view

Variants for TUBB1 Gene

Sequence variations from dbSNP and Humsavar for TUBB1 Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type
rs415064 - 59,022,916(+) TTGCA(C/G)CTGGA reference, missense
rs463312 - 59,022,915(+) CTTGC(A/C)GCTGG reference, missense
rs35565630 - 59,024,248(-) GGGCC(A/G)TGAGT reference, missense
rs6070697 - 59,024,347(+) CCGCC(A/G)TGGCC reference, missense
rs121918555 Macrothrombocytopenia, autosomal dominant, TUBB1-related (MAD-TUBB1) 59,024,379(+) TTTTC(C/T)GGGGC reference, missense

Variation tolerance for TUBB1 Gene

Residual Variation Intolerance Score: 81.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.76; 89.42% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TUBB1 Gene

Human Gene Mutation Database (HGMD)
TUBB1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for TUBB1 Gene

Disorders for TUBB1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for TUBB1 Gene - From: OMIM, ClinVar, Orphanet, Swiss-Prot, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search TUBB1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

TBB1_HUMAN
  • Macrothrombocytopenia, autosomal dominant, TUBB1-related (MAD-TUBB1) [MIM:613112]: A congenital blood disorder characterized by increased platelet size and decreased number of circulating platelets. {ECO:0000269 PubMed:18849486}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for TUBB1

Genetic Association Database (GAD)
TUBB1
Human Genome Epidemiology (HuGE) Navigator
TUBB1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TUBB1
genes like me logo Genes that share disorders with TUBB1: view

No data available for Genatlas for TUBB1 Gene

Publications for TUBB1 Gene

  1. The TUBB1 Q43P functional polymorphism reduces the risk of cardiovascular disease in men by modulating platelet function and structure. (PMID: 15956286) Freson K. … Van Geet C. (Blood 2005) 3 4 48 67
  2. Colchicine poisoning: the dark side of an ancient drug. (PMID: 20586571) Finkelstein Y. … Bentur Y. (Clin Toxicol (Phila) 2010) 25 26
  3. Competitive mass spectrometry binding assay for characterization of three binding sites of tubulin. (PMID: 20814887) Li C.M. … Dalton J.T. (J Mass Spectrom 2010) 25 26
  4. Vitamin K3 disrupts the microtubule networks by binding to tubulin: a novel mechanism of its antiproliferative activity. (PMID: 19527023) Acharya B.R. … Chakrabarti G. (Biochemistry 2009) 25 26
  5. Survivin counteracts the therapeutic effect of microtubule de-stabilizers by stabilizing tubulin polymers. (PMID: 19575780) Cheung C.H. … Chang J.Y. (Mol. Cancer 2009) 25 26

Products for TUBB1 Gene

Sources for TUBB1 Gene

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