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Aliases for TUBB1 Gene

Aliases for TUBB1 Gene

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

External Ids for TUBB1 Gene

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 ERK Signaling and GPCR Pathway. GO annotations related to this gene include GTP binding and structural constituent of cytoskeleton. An important paralog of this gene is TUBB3.

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 (+). Microtubules act as a scaffold to determine cell shape, and provide a backbone for cell organelles and vesicles to move on, a process that requires motor proteins. The major microtubule motor proteins are kinesin, which generally moves towards the (+) end of the microtubule, and dynein, which generally moves towards the (-) end. Microtubules also form the spindle fibers for separating chromosomes during mitosis.

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

Genomic Location for TUBB1 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for TUBB1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TUBB1 Gene

Regulatory Elements for TUBB1 Gene

Proteins for TUBB1 Gene

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

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

    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

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
  • Ubiquitination at Lys252

Other Protein References for TUBB1 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for TUBB1 Gene

Domains for TUBB1 Gene

Gene Families for TUBB1 Gene

HGNC:
  • TUB :Tubulins

UniProtKB/Swiss-Prot:

TBB1_HUMAN
Family:
  • Belongs to the tubulin family.:
    • Q9H4B7
genes like me logo Genes that share domains with TUBB1: view

Function for TUBB1 Gene

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:0003924 GTPase activity IEA --
GO:0005200 structural constituent of cytoskeleton IEA --
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

Animal Models for TUBB1 Gene

MGI Knock Outs for TUBB1:

miRNA for TUBB1 Gene

miRTarBase miRNAs that target TUBB1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting 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
cytoskeleton 5
cytosol 4
plasma membrane 4
nucleus 2
extracellular 1

Gene Ontology (GO) - Cellular Components for TUBB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 18849486
GO:0005874 microtubule IEA --
GO:0043234 protein complex --
GO:0070062 extracellular exosome IDA 23533145
genes like me logo Genes that share ontologies with TUBB1: view

Pathways 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:0006184 obsolete GTP catabolic process --
GO:0006457 protein folding TAS --
GO:0007017 microtubule-based process --
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

Compounds for TUBB1 Gene

(5) Tocris Compounds for TUBB1 Gene

Compound Action Cas Number
Colchicine Inhibitor of tubulin [64-86-8]
Docetaxel Microtubule stabilizer [114977-28-5]
Epothilone B Microtubule stabilization agent; promotes tubulin polymerization [152044-54-7]
Vinblastine sulfate Disrupts microtubules [143-67-9]
Vinorelbine ditartrate Selective mitotic microtubule antagonist [125317-39-7]

(1) HMDB Compounds for TUBB1 Gene

Compound Synonyms Cas Number PubMed IDs
Guanosine triphosphate
  • 5'-GTP
86-01-1

(7) Drugbank Compounds for TUBB1 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Cabazitaxel
  • RPR-116258A
183133-96-2 target binder
Colchicine
  • Colchicin
64-86-8 target inhibitor
Docetaxel
  • Docetaxel anhydrous
114977-28-5 target
Epothilone B
  • EPO 906
152044-54-7 target
Epothilone D
189453-10-9 target
genes like me logo Genes that share compounds with TUBB1: view

Transcripts for TUBB1 Gene

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:

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

mRNA expression in normal human tissues 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 (38.4).

Integrated Proteomics: protein expression 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 expressions with TUBB1: view

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
chimpanzee
(Pan troglodytes)
Mammalia TUBB1 36
  • 99.56 (n)
  • 99.56 (a)
TUBB1 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TUBB1 36
  • 84.42 (n)
  • 90.23 (a)
TUBB1 37
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TUBB1 36
  • 81.4 (n)
  • 82.37 (a)
TUBB1 37
  • 62 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tubb1 36
  • 85.37 (n)
  • 91.8 (a)
Tubb1 16
Tubb1 37
  • 92 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TUBB1 37
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TUBB1 37
  • 88 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tubb1 36
  • 85.34 (n)
  • 92.59 (a)
chicken
(Gallus gallus)
Aves TUBB1 36
  • 76.28 (n)
  • 85.58 (a)
TUBB1 37
  • 84 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TUBB1 37
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100498230 36
  • 76.77 (n)
  • 81.61 (a)
zebrafish
(Danio rerio)
Actinopterygii tubb1 36
  • 71.78 (n)
  • 80.47 (a)
tubb1 37
  • 75 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta betaTub85D 37
  • 78 (a)
OneToMany
bgrTub85D 38
  • 79 (a)
CG4869 38
  • 77 (a)
bgrTub56D 38
  • 87 (a)
bgrTub60D 38
  • 77 (a)
worm
(Caenorhabditis elegans)
Secernentea mec-7 37
  • 77 (a)
ManyToMany
tbb-4 37
  • 78 (a)
ManyToMany
tbb-2 38
  • 78 (a)
ben-1 38
  • 77 (a)
mec-7 38
  • 78 (a)
tbb-4 38
  • 77 (a)
tbb-1 38
  • 76 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TUB2 37
  • 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

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 MAF
rs12326 -- 59,025,520(+) ACATA(C/T)ATGTT utr-variant-3-prime
rs151351 -- 59,022,008(+) ataaa(C/T)aaaca intron-variant
rs151352 -- 59,026,940(+) AACTA(A/G)TTAGT downstream-variant-500B
rs163777 -- 59,023,961(-) ACCAC(A/C/G/T)GTGTC synonymous-codon, reference
rs415064 - 59,022,916(+) TTGCA(C/G)CTGGA missense, reference

Relevant External Links for TUBB1 Gene

HapMap Linkage Disequilibrium report
TUBB1
Human Gene Mutation Database (HGMD)
TUBB1

No data available for Structural Variations from Database of Genomic Variants (DGV) for TUBB1 Gene

Disorders for TUBB1 Gene

(1) OMIM Diseases for TUBB1 Gene (612901)

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

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 49
  2. The DNA sequence and comparative analysis of human chromosome 20. (PMID: 11780052) Deloukas P. … Rogers J. (Nature 2001) 3 4
  3. Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides. (PMID: 12665801) Gevaert K. … Vandekerckhove J. (Nat. Biotechnol. 2003) 3 4
  4. Study of 18 functional hemostatic polymorphisms in mucocutaneous bleeding disorders. (PMID: 20532885) AntA^n A.I. … Mezzano D. (Ann. Hematol. 2010) 3 49
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4

Products for TUBB1 Gene

Sources for TUBB1 Gene

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