TUBA1A
Summary: Microtubules of the eukaryotic cytoskeleton perform essential and diverse functions and are composed of a heterodimer of alpha and beta tubulins. The genes encoding these microtubule constituents belong to the tubulin superfamily, which is composed of six distinct families. Genes from the alpha, beta and gamma tubulin families are found in all eukaryotes. The alpha and beta tubulins represent the major components of microtubules, while gamma tubulin plays a critical role in the nucleation of microtubule assembly. There are multiple alpha and beta tubulin genes, which are highly conserved among species. This gene encodes alpha tubulin and is highly similar to the mouse and rat Tuba1 genes. Northern blot studies have shown that the gene expression is predominantly found in morphologically differentiated neurologic cells. This gene is one of three alpha-tubulin genes in a cluster on chromosome 12q. Mutations in this gene cause lissencephaly type 3 (LIS3) - a neurological condition characterized by microcephaly, intellectual disability, and early-onset epilepsy caused by defective neuronal migration. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2017].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| tubulin alpha 1a | MIM:602529 | Ensembl:ENSG00000167552 | HGNC:HGNC:20766 | PA162407319 | 12q13.12 |
GO terms in TUBA1A
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IEA | GO:0003924 | GTPase activity |
| MF | TAS | GO:0005198 | structural molecule activity |
| MF | IBA | GO:0005200 | structural constituent of cytoskeleton |
| MF | IEA | GO:0005200 | structural constituent of cytoskeleton |
| MF | IPI | GO:0005515 | protein binding |
| MF | IBA | GO:0005525 | GTP binding |
| MF | IEA | GO:0005525 | GTP binding |
| MF | IEA | GO:0019904 | protein domain specific binding |
| CC | HDA | GO:0005634 | nucleus |
| CC | IBA | GO:0005737 | cytoplasm |
| CC | TAS | GO:0005829 | cytosol |
| CC | IBA | GO:0005874 | microtubule |
| CC | IDA | GO:0005874 | microtubule |
| CC | TAS | GO:0005874 | microtubule |
| CC | IEA | GO:0005881 | cytoplasmic microtubule |
| CC | IDA | GO:0015630 | microtubule cytoskeleton |
| CC | IDA | GO:0036464 | cytoplasmic ribonucleoprotein granule |
| CC | IEA | GO:0043209 | myelin sheath |
| CC | IEA | GO:0045121 | membrane raft |
| CC | IDA | GO:0055037 | recycling endosome |
| CC | HDA | GO:0070062 | extracellular exosome |
| BP | TAS | GO:0000086 | G2/M transition of mitotic cell cycle |
| BP | IBA | GO:0000226 | microtubule cytoskeleton organization |
| BP | IBA | GO:0000278 | mitotic cell cycle |
| BP | IEA | GO:0007010 | cytoskeleton organization |
| BP | IBA | GO:0007017 | microtubule-based process |
| BP | TAS | GO:0007017 | microtubule-based process |
| BP | TAS | GO:0010389 | regulation of G2/M transition of mitotic cell cycle |
| BP | TAS | GO:0030705 | cytoskeleton-dependent intracellular transport |
| BP | TAS | GO:0051301 | cell division |
| BP | TAS | GO:0097711 | ciliary basal body-plasma membrane docking |
Gene expression in normal tissue: TUBA1A
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in TUBA1A
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-109582 | Hemostasis |
| reactome | R-HSA-1266738 | Developmental Biology |
| reactome | R-HSA-1266738 | Developmental Biology |
| reactome | R-HSA-1280218 | Adaptive Immune System |
| reactome | R-HSA-1445148 | Translocation of SLC2A4 (GLUT4) to the plasma membrane |
| reactome | R-HSA-157858 | Gap junction trafficking and regulation |
| reactome | R-HSA-157858 | Gap junction trafficking and regulation |
| reactome | R-HSA-162582 | Signal Transduction |
| reactome | R-HSA-1640170 | Cell Cycle |
| reactome | R-HSA-168256 | Immune System |
| reactome | R-HSA-1852241 | Organelle biogenesis and maintenance |
| reactome | R-HSA-190828 | Gap junction trafficking |
| reactome | R-HSA-190828 | Gap junction trafficking |
| reactome | R-HSA-190840 | Microtubule-dependent trafficking of connexons from Golgi to the plasma membrane |
| reactome | R-HSA-190861 | Gap junction assembly |
| reactome | R-HSA-190861 | Gap junction assembly |
| reactome | R-HSA-190872 | Transport of connexons to the plasma membrane |
| reactome | R-HSA-194315 | Signaling by Rho GTPases |
| reactome | R-HSA-195258 | RHO GTPase Effectors |
| reactome | R-HSA-199977 | ER to Golgi Anterograde Transport |
| reactome | R-HSA-199991 | Membrane Trafficking |
| reactome | R-HSA-199991 | Membrane Trafficking |
| reactome | R-HSA-2132295 | MHC class II antigen presentation |
| reactome | R-HSA-2262752 | Cellular responses to stress |
| reactome | R-HSA-2467813 | Separation of Sister Chromatids |
| reactome | R-HSA-2500257 | Resolution of Sister Chromatid Cohesion |
| reactome | R-HSA-2555396 | Mitotic Metaphase and Anaphase |
| reactome | R-HSA-2565942 | Regulation of PLK1 Activity at G2/M Transition |
| reactome | R-HSA-3371497 | HSP90 chaperone cycle for steroid hormone receptors (SHR) |
| reactome | R-HSA-373760 | L1CAM interactions |
| reactome | R-HSA-373760 | L1CAM interactions |
| reactome | R-HSA-380259 | Loss of Nlp from mitotic centrosomes |
| reactome | R-HSA-380270 | Recruitment of mitotic centrosome proteins and complexes |
| reactome | R-HSA-380284 | Loss of proteins required for interphase microtubule organization from the centrosome |
| reactome | R-HSA-380287 | Centrosome maturation |
| reactome | R-HSA-380320 | Recruitment of NuMA to mitotic centrosomes |
| reactome | R-HSA-389957 | Prefoldin mediated transfer of substrate to CCT/TriC |
| reactome | R-HSA-389958 | Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding |
| reactome | R-HSA-389960 | Formation of tubulin folding intermediates by CCT/TriC |
| reactome | R-HSA-389977 | Post-chaperonin tubulin folding pathway |
| reactome | R-HSA-390466 | Chaperonin-mediated protein folding |
| reactome | R-HSA-391251 | Protein folding |
| reactome | R-HSA-392499 | Metabolism of proteins |
| reactome | R-HSA-392499 | Metabolism of proteins |
| reactome | R-HSA-422475 | Axon guidance |
| reactome | R-HSA-422475 | Axon guidance |
| reactome | R-HSA-437239 | Recycling pathway of L1 |
| reactome | R-HSA-437239 | Recycling pathway of L1 |
| reactome | R-HSA-446203 | Asparagine N-linked glycosylation |
| reactome | R-HSA-453274 | Mitotic G2-G2/M phases |
| reactome | R-HSA-5358351 | Signaling by Hedgehog |
| reactome | R-HSA-5610787 | Hedgehog 'off' state |
| reactome | R-HSA-5617833 | Cilium Assembly |
| reactome | R-HSA-5620912 | Anchoring of the basal body to the plasma membrane |
| reactome | R-HSA-5620924 | Intraflagellar transport |
| reactome | R-HSA-5626467 | RHO GTPases activate IQGAPs |
| reactome | R-HSA-5653656 | Vesicle-mediated transport |
| reactome | R-HSA-5653656 | Vesicle-mediated transport |
| reactome | R-HSA-5663220 | RHO GTPases Activate Formins |
| reactome | R-HSA-597592 | Post-translational protein modification |
| reactome | R-HSA-597592 | Post-translational protein modification |
| reactome | R-HSA-6807878 | COPI-mediated anterograde transport |
| reactome | R-HSA-6811434 | COPI-dependent Golgi-to-ER retrograde traffic |
| reactome | R-HSA-6811436 | COPI-independent Golgi-to-ER retrograde traffic |
| reactome | R-HSA-6811442 | Intra-Golgi and retrograde Golgi-to-ER traffic |
| reactome | R-HSA-68877 | Mitotic Prometaphase |
| reactome | R-HSA-68882 | Mitotic Anaphase |
| reactome | R-HSA-68886 | M Phase |
| reactome | R-HSA-69275 | G2/M Transition |
| reactome | R-HSA-69278 | Cell Cycle, Mitotic |
| reactome | R-HSA-8852276 | The role of GTSE1 in G2/M progression after G2 checkpoint |
| reactome | R-HSA-8854518 | AURKA Activation by TPX2 |
| reactome | R-HSA-8856688 | Golgi-to-ER retrograde transport |
| reactome | R-HSA-8953897 | Cellular responses to external stimuli |
| reactome | R-HSA-8955332 | Carboxyterminal post-translational modifications of tubulin |
| reactome | R-HSA-8955332 | Carboxyterminal post-translational modifications of tubulin |
| reactome | R-HSA-948021 | Transport to the Golgi and subsequent modification |
| reactome | R-HSA-983189 | Kinesins |
| reactome | R-HSA-983231 | Factors involved in megakaryocyte development and platelet production |
| biocarta | mta3pathway | downregulated of mta-3 in er-negative breast tumors |
| biocarta | stathminpathway | stathmin and breast cancer resistance to antimicrotubule agents |
| pid | p73pathway | p73 transcription factor network |
| netpath | Pathway_TCR | TCR |
| kegg | hsa04145 | Phagosome - Homo sapiens (human) |
| kegg | hsa04210 | Apoptosis - Homo sapiens (human) |
| kegg | hsa04530 | Tight junction - Homo sapiens (human) |
| kegg | hsa04540 | Gap junction - Homo sapiens (human) |
| kegg | hsa05130 | Pathogenic Escherichia coli infection - Homo sapiens (human) |
| wikipathways | WP2002 | miR-targeted genes in epithelium - TarBase |
| wikipathways | WP2003 | miR-targeted genes in leukocytes - TarBase |
| wikipathways | WP2004 | miR-targeted genes in lymphocytes - TarBase |
| wikipathways | WP2006 | miR-targeted genes in squamous cell - TarBase |
| wikipathways | WP2272 | Pathogenic Escherichia coli infection |
| wikipathways | WP2359 | Parkin-Ubiquitin Proteasomal System pathway |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in TUBA1A
CLASSFICATION
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