Human Gene TUBB1 (ENST00000217133.2) from GENCODE V44
Description: Homo sapiens tubulin beta 1 class VI (TUBB1), mRNA. (from RefSeq NM_030773) RefSeq Summary (NM_030773): 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]. Gencode Transcript: ENST00000217133.2 Gencode Gene: ENSG00000101162.4 Transcript (Including UTRs) Position: hg38 chr20:59,019,429-59,026,654 Size: 7,226 Total Exon Count: 4 Strand: + Coding Region Position: hg38 chr20:59,019,523-59,024,783 Size: 5,261 Coding Exon Count: 4
ID:TBB1_HUMAN DESCRIPTION: RecName: Full=Tubulin beta-1 chain; 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). SUBUNIT: Dimer of alpha and beta chains (By similarity). Interacts with RANBP10. SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton. TISSUE SPECIFICITY: Hematopoietic cell-specific. Major isotype in leukocytes, where it represents 50% of all beta-tubulins. PTM: 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). DISEASE: Defects in TUBB1 are a cause of macrothrombocytopenia autosomal dominant TUBB1-related (MAD-TUBB1) [MIM:613112]. It is a congenital blood disorder characterized by increased platelet size and decreased number of circulating platelets. SIMILARITY: Belongs to the tubulin family.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q9H4B7
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
JF432703 - Synthetic construct Homo sapiens clone IMAGE:100073942 tubulin, beta 1 (TUBB1) gene, encodes complete protein. AJ292757 - Homo sapiens TUBB1 gene for human beta tubulin 1, class VI. BC033679 - Homo sapiens tubulin, beta 1, mRNA (cDNA clone MGC:44928 IMAGE:5180793), complete cds. AB590525 - Synthetic construct DNA, clone: pFN21AE1914, Homo sapiens TUBB1 gene for tubulin, beta 1, without stop codon, in Flexi system. KJ899662 - Synthetic construct Homo sapiens clone ccsbBroadEn_09056 TUBB1 gene, encodes complete protein. KR710850 - Synthetic construct Homo sapiens clone CCSBHm_00017674 TUBB1 (TUBB1) mRNA, encodes complete protein.
Biochemical and Signaling Pathways
KEGG - Kyoto Encyclopedia of Genes and Genomes hsa04540 - Gap junction hsa05130 - Pathogenic Escherichia coli infection
Reactome (by CSHL, EBI, and GO)
Protein Q9H4B7 (Reactome details) participates in the following event(s):
R-HSA-389980 unfolded actin/tubulin associates with prefoldin R-HSA-389970 Actin/tubulin:prefoldin complex associates with CCT/TriC R-HSA-389954 Hydrolysis of ATP and release of tubulin folding intermediate from CCT/TriC R-HSA-389961 ADP is exchanged for ATP in the (ADP:CCT/TriC):tubulin complex R-HSA-389956 Beta-tubulin:GTP + Cofactor A -> Beta-tubulin:GTP: Cofactor A R-HSA-389969 Beta-tubulin:GTP + Cofactor D -> Beta-tubulin:GTP: Cofactor D R-HSA-389974 Beta-tubulin:GTP:Cofactor D:alpha-tubulin:GTP:Cofactor E:Cofactor C-> Beta-tubulin:GDP :alpha-tubulin:GTP heterodimer +Cofactor E+ Cofactor D+ Cofactor C+ Pi R-HSA-8955706 TTL ligates L-Tyr to the carboxy terminus of alpha-tubulin R-HSA-8955712 TTCP hydrolyzes the terminal L-Tyr residue from alpha-tubulin R-HSA-389955 Beta-tubulin:GTP: Cofactor A+ Cofactor D -> Beta-tubulin:GTP:Cofactor D + Cofactor A R-HSA-389976 Beta-tubulin:GTP:Cofactor D+alpha-tubulin:GTP:Cofactor E-> Beta-tubulin:GTP:Cofactor D:alpha-tubulin:GTP:Cofactor E R-HSA-389964 Beta-tubulin:GTP:Cofactor D:alpha-tubulin:GTP:Cofactor E+ Cofactor C-> Beta-tubulin:GTP:Cofactor D:alpha-tubulin:GTP:Cofactor E:Cofactor C R-HSA-389957 Prefoldin mediated transfer of substrate to CCT/TriC R-HSA-389958 Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding R-HSA-389960 Formation of tubulin folding intermediates by CCT/TriC R-HSA-389977 Post-chaperonin tubulin folding pathway R-HSA-8955332 Carboxyterminal post-translational modifications of tubulin R-HSA-390466 Chaperonin-mediated protein folding R-HSA-391251 Protein folding R-HSA-597592 Post-translational protein modification R-HSA-392499 Metabolism of proteins
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