Version 5.4
| Homo sapiens Gene: TUBA1A | |||||||||||||||||||||||
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| Summary | |||||||||||||||||||||||
| InnateDB Gene | IDBG-31211.6 | ||||||||||||||||||||||
| Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||||||
| Gene Symbol | TUBA1A | ||||||||||||||||||||||
| Gene Name | tubulin, alpha 1a | ||||||||||||||||||||||
| Synonyms | B-ALPHA-1; LIS3; TUBA3 | ||||||||||||||||||||||
| Species | Homo sapiens | ||||||||||||||||||||||
| Ensembl Gene | ENSG00000167552 | ||||||||||||||||||||||
| Encoded Proteins |
tubulin, alpha 1a
tubulin, alpha 1a
tubulin, alpha 1a
tubulin, alpha 1a
tubulin, alpha 1a
tubulin, alpha 1a
tubulin, alpha 1a
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| Protein Structure | |||||||||||||||||||||||
| Useful resources | Stemformatics EHFPI ImmGen | ||||||||||||||||||||||
| Entrez Gene | |||||||||||||||||||||||
| 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 blotting 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, mental retardation, and early-onset epilepsy and caused by defective neuronal migration. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2012] |
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| Gene Information | |||||||||||||||||||||||
| Type | Protein coding | ||||||||||||||||||||||
| Genomic Location | Chromosome 12:49184796-49189324 | ||||||||||||||||||||||
| Strand | Reverse strand | ||||||||||||||||||||||
| Band | q13.12 | ||||||||||||||||||||||
| Transcripts | |||||||||||||||||||||||
| Interactions | |||||||||||||||||||||||
| Number of Interactions |
This gene and/or its encoded proteins are associated with 207 experimentally validated interaction(s) in this database.
They are also associated with 20 interaction(s) predicted by orthology.
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| Gene Ontology | |||||||||||||||||||||||
Molecular Function |
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| Biological Process |
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| Cellular Component |
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| Orthologs | |||||||||||||||||||||||
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Species
Mus musculus
Bos taurus
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Gene ID
Gene Order
Not yet available
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| Pathways | |||||||||||||||||||||||
| NETPATH |
TCR pathway
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| REACTOME |
Resolution of Sister Chromatid Cohesion pathway
Mitotic Prometaphase pathway
Separation of Sister Chromatids pathway
Regulation of PLK1 Activity at G2/M Transition pathway
Loss of Nlp from mitotic centrosomes pathway
Loss of proteins required for interphase microtubule organization� from the centrosome pathway
Recruitment of NuMA to mitotic centrosomes pathway
Recruitment of mitotic centrosome proteins and complexes pathway
MHC class II antigen presentation pathway
Kinesins pathway
Factors involved in megakaryocyte development and platelet production pathway
Post-chaperonin tubulin folding pathway pathway
Prefoldin mediated transfer of substrate to CCT/TriC pathway
Formation of tubulin folding intermediates by CCT/TriC pathway
Microtubule-dependent trafficking of connexons from Golgi to the plasma membrane pathway
Transport of connexons to the plasma membrane pathway
Gap junction assembly pathway
Translocation of GLUT4 to the plasma membrane pathway
Recycling pathway of L1 pathway
L1CAM interactions pathway
Protein folding pathway
Developmental Biology pathway
Signaling by Hedgehog pathway
Axon guidance pathway
Signal Transduction pathway
Hedgehog 'off' state pathway
Gap junction trafficking pathway
Chaperonin-mediated protein folding pathway
Cell Cycle pathway
Metabolism of proteins pathway
Adaptive Immune System pathway
Immune System pathway
Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding pathway
M Phase pathway
Mitotic Anaphase pathway
Centrosome maturation pathway
G2/M Transition pathway
Cell Cycle, Mitotic pathway
Mitotic G2-G2/M phases pathway
Gap junction trafficking and regulation pathway
Hemostasis pathway
Membrane Trafficking pathway
Mitotic Metaphase and Anaphase pathway
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| KEGG |
Pathogenic Escherichia coli infection pathway
Gap junction pathway
Phagosome pathway
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| INOH | |||||||||||||||||||||||
| PID NCI |
p73 transcription factor network
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| Cross-References | |||||||||||||||||||||||
| SwissProt | |||||||||||||||||||||||
| TrEMBL | F8VQQ4 F8VRK0 F8VRZ4 F8VWV9 F8VX09 F8VXZ7 | ||||||||||||||||||||||
| UniProt Splice Variant | |||||||||||||||||||||||
| Entrez Gene | 7846 | ||||||||||||||||||||||
| UniGene | Hs.654422 Hs.728763 | ||||||||||||||||||||||
| RefSeq | NM_001270399 NM_001270400 NM_006009 | ||||||||||||||||||||||
| HUGO | HGNC:20766 | ||||||||||||||||||||||
| OMIM | 602529 | ||||||||||||||||||||||
| CCDS | CCDS58226 CCDS58227 CCDS8781 | ||||||||||||||||||||||
| HPRD | 03959 | ||||||||||||||||||||||
| IMGT | |||||||||||||||||||||||
| EMBL | AC010173 AC011603 | ||||||||||||||||||||||
| GenPept | |||||||||||||||||||||||
| RNA Seq Atlas | 7846 | ||||||||||||||||||||||